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Gene: CYP27B1 (cytochrome P450 family 27 subfamily B member 1) Homo sapiens

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Symbol:

CYP27B1

Name:

cytochrome P450 family 27 subfamily B member 1

RGD ID:

69201

HGNC Page

HGNC:2606

Description:

Enables calcidiol 1-monooxygenase activity and secalciferol 1-monooxygenase activity. Involved in several processes, including calcitriol biosynthetic process from calciol; decidualization; and negative regulation of calcidiol 1-monooxygenase activity. Located in cytoplasm. Implicated in hepatitis B; obesity; rickets; type 1 diabetes mellitus; and vitamin D-dependent rickets type 1A. Biomarker of gestational diabetes and pre-eclampsia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 25-OHD-1 alpha-hydroxylase; calcidiol 1-monooxygenase; CP2B; CYP1; CYP1alpha; CYP27B; cytochrome p450 27B1; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; P450c1; PDDR; VD3 1A hydroxylase; VDD1; VDDR; VDDRI; VDR

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	LOC102011841 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	LOC101978323 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Sus scrofa (pig):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CYP27B1 (cytochrome P450 family 27 subfamily B member 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	LOC101700851 (25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cyp27b1 (cytochrome P450, family 27, subfamily b, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cyp27b1 (cytochrome P450, family 27, subfamily B, polypeptide 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Cyp12c1	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp49a1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Caenorhabditis elegans (roundworm):	cyp-44A1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12a4	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12a5	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12b2	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12d1-d	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12d1-p	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp12e1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Cyp301a1	Alliance	DIOPT (InParanoid\|OrthoInspector\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	il17d	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cyp27b1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	cyp27b1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	cyp27b1.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,762,334 - 57,768,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,156,117 - 58,160,861 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,442,385 - 56,447,151	NCBI
Celera	12	57,813,712 - 57,818,571 (-)	NCBI		Celera
Cytogenetic Map	12	q14.1	NCBI
HuRef	12	55,192,956 - 55,197,815 (-)	NCBI		HuRef
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	Acidoses		ISO	Cyp27b1 (Rattus norvegicus)	2307324		RGD
CYP27B1	Human	acute kidney failure		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:6223803 and REF_RGD_ID:2307326
CYP27B1	Human	autosomal dominant hypocalcemia		ISO	Cyp27b1 (Mus musculus)	734871		RGD
CYP27B1	Human	Chemical and Drug Induced Liver Injury		ISO	Cyp27b1 (Mus musculus)	25671412	mRNA and protein:decreased expression:kidney (mouse)	RGD
CYP27B1	Human	Chronic Hepatitis C	severity	IAGP		25671413	DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)	RGD
CYP27B1	Human	Experimental Diabetes Mellitus		ISO	Cyp27b1 (Rattus norvegicus)	2307313		RGD
CYP27B1	Human	gestational diabetes		IEP		401901174	mRNA:increased expression:placenta (human)	RGD
CYP27B1	Human	hepatitis B	severity	IAGP		25671410	DNA:SNP:promoter: -1260C>A (rs10877012) (human)	RGD
CYP27B1	Human	hyperparathyroidism		ISO	Cyp27b1 (Mus musculus)	734871		RGD
CYP27B1	Human	metabolic dysfunction-associated steatotic liver disease		ISO	Cyp27b1 (Mus musculus)	25671411	protein:decreased expression:liver (mouse)	RGD
CYP27B1	Human	nephrosis		ISO	Cyp27b1 (Rattus norvegicus)	2307321		RGD
CYP27B1	Human	nephrotoxicity	treatment	ISO	Cyp27b1 (Rattus norvegicus)	329853759		RGD
CYP27B1	Human	obesity	susceptibility	IAGP		2307312	associated with Diabetes Mellitus more ...	RGD
CYP27B1	Human	pre-eclampsia		IEP		401901075	associated with hypoxia and protein:increased expression:placenta (human)	RGD
CYP27B1	Human	pre-eclampsia		IEP		401901174	mRNA:increased expression:placenta (human)	RGD
CYP27B1	Human	rickets		ISO	Cyp27b1 (Mus musculus)	734871		RGD
CYP27B1	Human	rickets		IAGP		1600874	vitamin D-dependent rickets type I more ...	RGD
CYP27B1	Human	steatotic liver disease		ISO	Cyp27b1 (Mus musculus)	25671414	mRNA:increased expression:liver (mouse)	RGD
CYP27B1	Human	type 1 diabetes mellitus	susceptibility	IAGP		2307312	DNA more ...	RGD
CYP27B1	Human	type 1 diabetes mellitus	susceptibility	IAGP		2307311	DNA:polymorphisms:promoter more ...	RGD
CYP27B1	Human	Vitamin D Deficiency	susceptibility	IAGP		2307310	associated with Diabetes more ...	RGD
CYP27B1	Human	vitamin D-dependent rickets type 1A	treatment	ISO	Cyp27b1 (Rattus norvegicus)	32716373		RGD
CYP27B1	Human	Wilson disease		ISO	Cyp27b1 (Rattus norvegicus)	2307322		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	cataract 15 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 15 multiple types	ClinVar	PMID:28492532
CYP27B1	Human	Charcot-Marie-Tooth disease axonal type 2U		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE more ...	ClinVar	PMID:28492532
CYP27B1	Human	familial melanoma		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial melanoma	ClinVar	PMID:28492532
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25363760 and PMID:25741868
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17576681 more ...
CYP27B1	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:20926527 more ...
CYP27B1	Human	INTERSTITIAL LUNG AND LIVER DISEASE		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Interstitial lung and liver disease	ClinVar	PMID:28492532
CYP27B1	Human	multiple sclerosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple sclerosis and susceptibility to	ClinVar	PMID:25741868 and PMID:9837822
CYP27B1	Human	multiple sclerosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple sclerosis and susceptibility to	ClinVar	PMID:25741868
CYP27B1	Human	multiple sclerosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS	ClinVar	PMID:20926527 more ...
CYP27B1	Human	paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532
CYP27B1	Human	vitamin D-dependent rickets		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets	ClinVar
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:27287609 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10566658 and PMID:25741868
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: VITAMIN D DEPENDENCY and TYPE 1	ClinVar	PMID:28492532
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:16199547 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17576681 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10566658 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:25363760 and PMID:25741868
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10566658
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:23423976 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:16199547 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10566658 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:25741868
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:22588163 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:22588163 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:20926527 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:22588163 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193 and PMID:28492532
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:25741868 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:25741868 and PMID:9837822
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:22588163 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10566658 and PMID:11737215
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:11737215
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:9486994
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:35738466
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:20926527 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:20926527 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:21107545 and PMID:32932410
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:17488797 and PMID:25741868
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: VITAMIN D DEPENDENCY and TYPE 1	ClinVar	PMID:22588163 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:11737215 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:10518789 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: VITAMIN D DEPENDENCY and TYPE 1	ClinVar	PMID:17488797 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193 more ...
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:9415400

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	autism spectrum disorder		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:35663546
CYP27B1	Human	hypercalcemia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:20427501
CYP27B1	Human	polymyositis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:20427501
CYP27B1	Human	rickets		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16494812
CYP27B1	Human	vitamin D-dependent rickets type 1A		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	rickets		ISS	Cyp27b1 (Mus musculus)	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	vitamin D-dependent rickets type 1A		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	(-)-epigallocatechin 3-gallate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of CYP27B1 mRNA	CTD	PMID:22079256
CYP27B1	Human	1,2-dichloroethane	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	ethylene dichloride results in increased expression of CYP27B1 mRNA	CTD	PMID:28960355
CYP27B1	Human	1,2-dimethylhydrazine	decreases expression	ISO	Cyp27b1 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of CYP27B1 mRNA	CTD	PMID:22206623
CYP27B1	Human	17beta-estradiol	affects activity	EXP		6480464	Estradiol affects the activity of CYP27B1 protein	CTD	PMID:17659868
CYP27B1	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of CYP27B1 mRNA	CTD	PMID:31614463
CYP27B1	Human	17beta-estradiol	increases activity	EXP		6480464	Estradiol results in increased activity of CYP27B1 protein	CTD	PMID:15795327
CYP27B1	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of CYP27B1 mRNA	CTD	PMID:17659868
CYP27B1	Human	17beta-hydroxy-5alpha-androstan-3-one	affects expression	EXP		6480464	Dihydrotestosterone affects the expression of CYP27B1 mRNA	CTD	PMID:17659868
CYP27B1	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
CYP27B1	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2 more ...	CTD	PMID:23146750
CYP27B1	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
CYP27B1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of CYP27B1 and Tetrachlorodibenzodioxin results in increased expression of CYP27B1 mRNA	CTD	PMID:19367694 more ...
CYP27B1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of CYP27B1 mRNA	CTD	PMID:33387578
CYP27B1	Human	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine	decreases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Puromycin Aminonucleoside results in decreased expression of CYP27B1 mRNA	CTD	PMID:19297354
CYP27B1	Human	3,3',4,4',5-pentachlorobiphenyl	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	3 more ...	CTD	PMID:31820026 and PMID:34256052
CYP27B1	Human	3,3',4,4',5-pentachlorobiphenyl	multiple interactions	ISO	Cyp27b1 (Rattus norvegicus)	6480464	AHR gene mutant form inhibits the reaction [3 more ...	CTD	PMID:34256052
CYP27B1	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of CYP27B1 mRNA	CTD	PMID:32763439
CYP27B1	Human	aldehydo-D-glucose	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of CYP27B1 mRNA	CTD	PMID:37567420
CYP27B1	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of CYP27B1 mRNA	CTD	PMID:33212167
CYP27B1	Human	arsane	increases methylation	EXP		6480464	Arsenic results in increased methylation of CYP27B1 promoter	CTD	PMID:31135185
CYP27B1	Human	arsenic atom	increases methylation	EXP		6480464	Arsenic results in increased methylation of CYP27B1 promoter	CTD	PMID:31135185
CYP27B1	Human	Azoxymethane	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of CYP27B1 mRNA	CTD	PMID:29950665
CYP27B1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of CYP27B1 5' UTR and Benzo(a)pyrene results in increased methylation of CYP27B1 promoter	CTD	PMID:27901495
CYP27B1	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of CYP27B1 mRNA	CTD	PMID:35870112
CYP27B1	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of CYP27B1 exon	CTD	PMID:30157460
CYP27B1	Human	beta-naphthoflavone	increases expression	EXP		6480464	beta-Naphthoflavone results in increased expression of CYP27B1 mRNA	CTD	PMID:32151702
CYP27B1	Human	biochanin A	affects activity	EXP		6480464	biochanin A affects the activity of CYP27B1 protein	CTD	PMID:17659868
CYP27B1	Human	biochanin A	increases activity	EXP		6480464	biochanin A analog results in increased activity of CYP27B1 protein and biochanin A results in increased activity of CYP27B1 protein	CTD	PMID:15795327
CYP27B1	Human	biochanin A	increases expression	EXP		6480464	biochanin A analog results in increased expression of CYP27B1 mRNA and biochanin A results in increased expression of CYP27B1 mRNA	CTD	PMID:15795327
CYP27B1	Human	biochanin A	affects expression	EXP		6480464	biochanin A affects the expression of CYP27B1 mRNA and biochanin A analog affects the expression of CYP27B1 mRNA	CTD	PMID:17659868
CYP27B1	Human	bisphenol A	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	bisphenol A results in increased expression of CYP27B1 mRNA	CTD	PMID:22435627
CYP27B1	Human	bisphenol A	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of CYP27B1 mRNA	CTD	PMID:30816183 more ...
CYP27B1	Human	bisphenol A	decreases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of CYP27B1 mRNA	CTD	PMID:25181051
CYP27B1	Human	bromobenzene	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	bromobenzene results in increased expression of CYP27B1 mRNA	CTD	PMID:32479839
CYP27B1	Human	caesium atom	decreases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Cesium results in decreased expression of CYP27B1 mRNA	CTD	PMID:18797846
CYP27B1	Human	calcidiol	affects metabolic processing	EXP		6480464	CYP27B1 protein affects the metabolism of Calcifediol	CTD	PMID:16061850
CYP27B1	Human	calcidiol	multiple interactions	EXP		6480464	CYP27B1 protein promotes the reaction [Calcifediol results in increased expression of ALPL mRNA] more ...	CTD	PMID:21542014
CYP27B1	Human	calcidiol	increases hydroxylation	EXP		6480464	CYP27B1 protein results in increased hydroxylation of Calcifediol	CTD	PMID:21542014
CYP27B1	Human	calcidiol	affects metabolic processing	ISO	Cyp27b1 (Rattus norvegicus)	6480464	CYP27B1 protein affects the metabolism of Calcifediol	CTD	PMID:16061850
CYP27B1	Human	calciol	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Cholecalciferol results in increased expression of CYP27B1 mRNA	CTD	PMID:21843606
CYP27B1	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of CYP27B1 mRNA	CTD	PMID:16061850
CYP27B1	Human	calcitriol	increases chemical synthesis	EXP		6480464	CYP27B1 protein results in increased chemical synthesis of Calcitriol	CTD	PMID:21542014
CYP27B1	Human	calcitriol	decreases chemical synthesis	EXP		6480464	CYP27B1 gene mutant form results in decreased chemical synthesis of Calcitriol	CTD	PMID:16494812
CYP27B1	Human	calcitriol	multiple interactions	ISO	Cyp27b1 (Rattus norvegicus)	6480464	GH1 protein affects the reaction [CYP27B1 protein affects the abundance of Calcitriol]	CTD	PMID:11316734
CYP27B1	Human	calcitriol	affects abundance	ISO	Cyp27b1 (Rattus norvegicus)	6480464	CYP27B1 protein affects the abundance of Calcitriol	CTD	PMID:12846736
CYP27B1	Human	calcitriol	affects expression	ISO	Cyp27b1 (Mus musculus)	6480464	Calcitriol affects the expression of CYP27B1 protein	CTD	PMID:11796525
CYP27B1	Human	calcium atom	affects expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Calcium affects the expression of CYP27B1 mRNA	CTD	PMID:15913539
CYP27B1	Human	calcium(0)	affects expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Calcium affects the expression of CYP27B1 mRNA	CTD	PMID:15913539
CYP27B1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to CYP27B1 gene]	CTD	PMID:28238834
CYP27B1	Human	chlorpyrifos	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of CYP27B1 mRNA	CTD	PMID:37019170
CYP27B1	Human	cisplatin	multiple interactions	EXP		6480464	Cisplatin promotes the reaction [jinfukang results in decreased expression of CYP27B1 mRNA] and jinfukang promotes the reaction [Cisplatin results in decreased expression of CYP27B1 mRNA]	CTD	PMID:27392435
CYP27B1	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of CYP27B1 mRNA	CTD	PMID:20971185
CYP27B1	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of CYP27B1 mRNA	CTD	PMID:20971185
CYP27B1	Human	corosolic acid	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	corosolic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in decreased expression of CYP27B1 mRNA]	CTD	PMID:32135139
CYP27B1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of CYP27B1 mRNA	CTD	PMID:20106945
CYP27B1	Human	cyclosporin A	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Cyclosporine results in increased expression of CYP27B1 mRNA	CTD	PMID:21865292
CYP27B1	Human	D-glucose	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of CYP27B1 mRNA	CTD	PMID:37567420
CYP27B1	Human	dexamethasone	affects expression	ISO	Cyp27b1 (Mus musculus)	6480464	Dexamethasone affects the expression of CYP27B1 mRNA	CTD	PMID:10694374
CYP27B1	Human	dexamethasone	affects activity	ISO	Cyp27b1 (Mus musculus)	6480464	Dexamethasone affects the activity of CYP27B1 protein	CTD	PMID:10694374
CYP27B1	Human	dextran sulfate	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of CYP27B1 mRNA	CTD	PMID:29950665
CYP27B1	Human	dextran sulfate	decreases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Dextran Sulfate results in decreased expression of CYP27B1 protein	CTD	PMID:38588969
CYP27B1	Human	dioxygen	multiple interactions	ISO	Cyp27b1 (Rattus norvegicus)	6480464	[Oxygen deficiency co-treated with Blood Glucose deficiency co-treated with Particulate Matter] results in increased expression of CYP27B1 mRNA	CTD	PMID:33729688
CYP27B1	Human	diquat	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Diquat results in increased expression of CYP27B1 mRNA	CTD	PMID:36851058
CYP27B1	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of CYP27B1 mRNA	CTD	PMID:17716971
CYP27B1	Human	endosulfan	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of CYP27B1 mRNA	CTD	PMID:29391264
CYP27B1	Human	ethanol	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[Ethanol co-treated with Vitamin D] results in decreased expression of CYP27B1 mRNA	CTD	PMID:22892342
CYP27B1	Human	etoposide	increases expression	EXP		6480464	Etoposide results in increased expression of CYP27B1 mRNA	CTD	PMID:17716971
CYP27B1	Human	flavonoids	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Flavonoids results in increased expression of CYP27B1 mRNA	CTD	PMID:18035473
CYP27B1	Human	fructose	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of CYP27B1 mRNA	CTD	PMID:37567420
CYP27B1	Human	genistein	affects activity	EXP		6480464	Genistein affects the activity of CYP27B1 protein	CTD	PMID:17659868
CYP27B1	Human	genistein	increases expression	EXP		6480464	Genistein results in increased expression of CYP27B1 mRNA	CTD	PMID:15795327
CYP27B1	Human	genistein	increases activity	EXP		6480464	Genistein results in increased activity of CYP27B1 protein	CTD	PMID:15795327
CYP27B1	Human	genistein	affects expression	EXP		6480464	Genistein affects the expression of CYP27B1 mRNA	CTD	PMID:17659868
CYP27B1	Human	gentamycin	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of CYP27B1 mRNA	CTD	PMID:33387578
CYP27B1	Human	glucose	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of CYP27B1 mRNA	CTD	PMID:37567420
CYP27B1	Human	ketoconazole	decreases activity	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Ketoconazole results in decreased activity of CYP27B1 protein	CTD	PMID:16483768
CYP27B1	Human	lead diacetate	decreases expression	ISO	Cyp27b1 (Mus musculus)	6480464	lead acetate results in decreased expression of CYP27B1 mRNA	CTD	PMID:22609695
CYP27B1	Human	lead diacetate	decreases expression	EXP		6480464	lead acetate results in decreased expression of CYP27B1 mRNA	CTD	PMID:38568856
CYP27B1	Human	lipopolysaccharide	multiple interactions	EXP		6480464	IFNG protein promotes the reaction [Lipopolysaccharides results in increased expression of CYP27B1 mRNA]	CTD	PMID:16355272
CYP27B1	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of CYP27B1 mRNA and Lipopolysaccharides results in decreased expression of CYP27B1 protein	CTD	PMID:38588969
CYP27B1	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of CYP27B1 mRNA	CTD	PMID:16355272
CYP27B1	Human	malathion	increases expression	EXP		6480464	Malathion results in increased expression of CYP27B1 mRNA	CTD	PMID:37047231
CYP27B1	Human	medroxyprogesterone acetate	decreases expression	EXP		6480464	Medroxyprogesterone Acetate results in decreased expression of CYP27B1 mRNA	CTD	PMID:20843944
CYP27B1	Human	melphalan	increases expression	EXP		6480464	Melphalan results in increased expression of CYP27B1 mRNA	CTD	PMID:22363485
CYP27B1	Human	metformin	multiple interactions	EXP		6480464	[Paclitaxel co-treated with Metformin] results in increased expression of CYP27B1 mRNA	CTD	PMID:29309887
CYP27B1	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of CYP27B1 exon	CTD	PMID:30157460
CYP27B1	Human	N-methyl-N-nitrosourea	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Methylnitrosourea results in increased expression of CYP27B1 mRNA	CTD	PMID:21843606
CYP27B1	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of CYP27B1 mRNA	CTD	PMID:25583101
CYP27B1	Human	oxybenzone	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	oxybenzone results in increased expression of CYP27B1 mRNA	CTD	PMID:30316929
CYP27B1	Human	paclitaxel	multiple interactions	EXP		6480464	[Paclitaxel co-treated with Metformin] results in increased expression of CYP27B1 mRNA	CTD	PMID:29309887
CYP27B1	Human	paracetamol	affects expression	ISO	Cyp27b1 (Mus musculus)	6480464	Acetaminophen affects the expression of CYP27B1 mRNA	CTD	PMID:17562736
CYP27B1	Human	paracetamol	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of CYP27B1 mRNA	CTD	PMID:33387578
CYP27B1	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of CYP27B1 mRNA	CTD	PMID:25704631
CYP27B1	Human	PCB138	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
CYP27B1	Human	PD 0325901	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	mirdametinib results in increased expression of CYP27B1 mRNA	CTD	PMID:21976371
CYP27B1	Human	PhIP	decreases expression	EXP		6480464	2-amino-1-methyl-6-phenylimidazo(4 and 5-b)pyridine results in decreased expression of CYP27B1 mRNA	CTD	PMID:20816883
CYP27B1	Human	phorbol 13-acetate 12-myristate	decreases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Tetradecanoylphorbol Acetate results in decreased expression of CYP27B1 mRNA	CTD	PMID:32135139
CYP27B1	Human	phorbol 13-acetate 12-myristate	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	corosolic acid inhibits the reaction [Tetradecanoylphorbol Acetate results in decreased expression of CYP27B1 mRNA]	CTD	PMID:32135139
CYP27B1	Human	phosphorus atom	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	Phosphorus affects the reaction [FGF23 protein results in decreased expression of CYP27B1 mRNA]	CTD	PMID:17699549
CYP27B1	Human	phosphorus(.)	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	Phosphorus affects the reaction [FGF23 protein results in decreased expression of CYP27B1 mRNA]	CTD	PMID:17699549
CYP27B1	Human	potassium chromate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of CYP27B1 mRNA	CTD	PMID:22079256
CYP27B1	Human	potassium chromate	increases expression	EXP		6480464	potassium chromate(VI) results in increased expression of CYP27B1 mRNA	CTD	PMID:22079256
CYP27B1	Human	progesterone	decreases expression	EXP		6480464	Progesterone results in decreased expression of CYP27B1 mRNA	CTD	PMID:17404688
CYP27B1	Human	protein kinase inhibitor	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Protein Kinase Inhibitors results in increased expression of CYP27B1 mRNA	CTD	PMID:21976371
CYP27B1	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of CYP27B1 mRNA	CTD	PMID:21632981
CYP27B1	Human	raloxifene	increases expression	EXP		6480464	Raloxifene Hydrochloride results in increased expression of CYP27B1 mRNA	CTD	PMID:15795327
CYP27B1	Human	rotenone	decreases expression	EXP		6480464	Rotenone results in decreased expression of CYP27B1 mRNA	CTD	PMID:29955902
CYP27B1	Human	SB 203580	multiple interactions	EXP		6480464	SB 203580 inhibits the reaction [IFNG protein results in increased expression of CYP27B1 mRNA]	CTD	PMID:16355272
CYP27B1	Human	serpentine asbestos	decreases methylation	EXP		6480464	Asbestos and Serpentine results in decreased methylation of CYP27B1 promoter	CTD	PMID:29626692
CYP27B1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of CYP27B1 mRNA	CTD	PMID:38568856
CYP27B1	Human	sulfasalazine	decreases expression	EXP		6480464	Sulfasalazine results in decreased expression of CYP27B1 mRNA	CTD	PMID:15243130
CYP27B1	Human	tacrolimus hydrate	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Tacrolimus results in increased expression of CYP27B1 mRNA	CTD	PMID:21865292
CYP27B1	Human	tamoxifen	decreases expression	EXP		6480464	Tamoxifen results in decreased expression of CYP27B1 mRNA	CTD	PMID:15590111
CYP27B1	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of CYP27B1 mRNA	CTD	PMID:31758290
CYP27B1	Human	tetrachloroethene	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Tetrachloroethylene results in increased expression of CYP27B1 mRNA	CTD	PMID:28973375
CYP27B1	Human	thioacetamide	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of CYP27B1 mRNA	CTD	PMID:23411599 and PMID:34492290
CYP27B1	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of CYP27B1 mRNA	CTD	PMID:38568856
CYP27B1	Human	titanium dioxide	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of CYP27B1 mRNA	CTD	PMID:29950665
CYP27B1	Human	titanium dioxide	decreases methylation	ISO	Cyp27b1 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of CYP27B1 gene	CTD	PMID:35295148
CYP27B1	Human	titanium dioxide	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	titanium dioxide results in increased expression of CYP27B1 mRNA	CTD	PMID:35295148
CYP27B1	Human	triadimefon	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	triadimefon results in increased expression of CYP27B1 mRNA	CTD	PMID:16643972
CYP27B1	Human	Triptolide	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	triptolide results in increased expression of CYP27B1 mRNA	CTD	PMID:32835833
CYP27B1	Human	triptonide	increases expression	ISO	Cyp27b1 (Mus musculus)	6480464	triptonide results in increased expression of CYP27B1 mRNA	CTD	PMID:33045310
CYP27B1	Human	uranium atom	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Uranium results in increased expression of CYP27B1 mRNA	CTD	PMID:16502312
CYP27B1	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of CYP27B1 mRNA	CTD	PMID:28818685
CYP27B1	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of CYP27B1 gene	CTD	PMID:29154799
CYP27B1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of CYP27B1 mRNA	CTD	PMID:29501571
CYP27B1	Human	vancomycin	decreases expression	ISO	Cyp27b1 (Mus musculus)	6480464	Vancomycin results in decreased expression of CYP27B1 mRNA	CTD	PMID:18930951
CYP27B1	Human	vitamin D	increases expression	ISO	Cyp27b1 (Rattus norvegicus)	6480464	Vitamin D deficiency results in increased expression of CYP27B1 protein	CTD	PMID:8410379
CYP27B1	Human	vitamin D	multiple interactions	ISO	Cyp27b1 (Mus musculus)	6480464	[Ethanol co-treated with Vitamin D] results in decreased expression of CYP27B1 mRNA	CTD	PMID:22892342

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	bone mineralization	involved_in	IEP		150520179	PMID:17023519	BHF-UCL	PMID:17023519
CYP27B1	Human	calcitriol biosynthetic process from calciol	involved_in	IDA		150520179	PMID:15795327 more ...	BHF-UCL	PMID:15795327 more ...
CYP27B1	Human	calcitriol biosynthetic process from calciol	involved_in	IBA	MGI:1098274 more ...	150520179		GO_Central	GO_REF:0000033
CYP27B1	Human	calcitriol biosynthetic process from calciol	involved_in	IEA	UniProtKB:O35084 and ensembl:ENSMUSP00000130005	150520179		Ensembl	GO_REF:0000107
CYP27B1	Human	calcium ion homeostasis	involved_in	IMP		150520179	PMID:9415400	BHF-UCL	PMID:9415400
CYP27B1	Human	calcium ion transport	involved_in	ISS	UniProtKB:O35084	150520179		BHF-UCL	GO_REF:0000024
CYP27B1	Human	calcium ion transport	acts_upstream_of_or_within	IEA	UniProtKB:O35084 and ensembl:ENSMUSP00000130005	150520179		Ensembl	GO_REF:0000107
CYP27B1	Human	decidualization	involved_in	IEP		150520179	PMID:16720713	BHF-UCL	PMID:16720713
CYP27B1	Human	G1 to G0 transition	involved_in	IMP		150520179	PMID:12496369	BHF-UCL	PMID:12496369
CYP27B1	Human	lactation		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:8333523 and REF_RGD_ID:2307320
CYP27B1	Human	lipid metabolic process	involved_in	IEA	UniProtKB-KW:KW-0443	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	lipid metabolic process	involved_in	IEA	ARBA:ARBA00028591	150520179		UniProt	GO_REF:0000117
CYP27B1	Human	negative regulation of bone trabecula formation		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:32231239 and REF_RGD_ID:32716373
CYP27B1	Human	negative regulation of cell growth	involved_in	IMP		150520179	PMID:12496369	BHF-UCL	PMID:12496369
CYP27B1	Human	negative regulation of cell population proliferation	involved_in	IDA		150520179	PMID:16549446	BHF-UCL	PMID:16549446
CYP27B1	Human	negative regulation of ossification		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:32231239 and REF_RGD_ID:32716373
CYP27B1	Human	positive regulation of keratinocyte differentiation	involved_in	IMP		150520179	PMID:12496369	BHF-UCL	PMID:12496369
CYP27B1	Human	positive regulation of parathyroid hormone secretion		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:32231239 and REF_RGD_ID:32716373
CYP27B1	Human	positive regulation of vitamin D receptor signaling pathway	involved_in	IDA		150520179	PMID:16549446	BHF-UCL	PMID:16549446
CYP27B1	Human	regulation of bone mineralization	involved_in	IMP		150520179	PMID:9415400	BHF-UCL	PMID:9415400
CYP27B1	Human	response to calcium ion		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:8333523 and REF_RGD_ID:2307320
CYP27B1	Human	response to cAMP		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:6282936 and REF_RGD_ID:2307324
CYP27B1	Human	response to copper ion		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:3348368 and REF_RGD_ID:2307322
CYP27B1	Human	response to estrogen	involved_in	IEP		150520179	PMID:15795327	BHF-UCL	PMID:15795327
CYP27B1	Human	response to insulin		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:3295473 and REF_RGD_ID:2307313
CYP27B1	Human	response to lipopolysaccharide	involved_in	IDA		150520179	PMID:12855575	BHF-UCL	PMID:12855575
CYP27B1	Human	response to peptide hormone		ISO	Cyp27b1 (Rattus norvegicus)	9068941	parathyroid hormone	RGD	PMID:17223550 and REF_RGD_ID:2307315
CYP27B1	Human	response to peptide hormone		ISO	Cyp27b1 (Rattus norvegicus)	9068941	calcitonin	RGD	PMID:10393981 and REF_RGD_ID:2307327
CYP27B1	Human	response to prostaglandin E		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:3937586 and REF_RGD_ID:2307314
CYP27B1	Human	response to type II interferon	involved_in	IDA		150520179	PMID:9282826	BHF-UCL	PMID:9282826
CYP27B1	Human	response to vitamin D		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:3000565 and REF_RGD_ID:2307325
CYP27B1	Human	response to vitamin D	involved_in	IBA	MGI:1098274 more ...	150520179		GO_Central	GO_REF:0000033
CYP27B1	Human	response to vitamin D	involved_in	IDA		150520179	PMID:16549446	BHF-UCL	PMID:16549446
CYP27B1	Human	response to vitamin D	involved_in	IEA	UniProtKB:O35084 and ensembl:ENSMUSP00000130005	150520179		Ensembl	GO_REF:0000107
CYP27B1	Human	response to xenobiotic stimulus		ISO	Cyp27b1 (Rattus norvegicus)	9068941	indomethacin	RGD	PMID:3937586 and REF_RGD_ID:2307314
CYP27B1	Human	small molecule metabolic process	involved_in	IEA	ARBA:ARBA00028529	150520179		UniProt	GO_REF:0000117
CYP27B1	Human	vitamin D biosynthetic process	involved_in	IEA	UniPathway:UPA00954	150520179		UniProt	GO_REF:0000041
CYP27B1	Human	vitamin D catabolic process	involved_in	IEA	UniProtKB:O35084 and ensembl:ENSMUSP00000130005	150520179		Ensembl	GO_REF:0000107
CYP27B1	Human	vitamin D catabolic process	involved_in	IBA	MGI:1098274 more ...	150520179		GO_Central	GO_REF:0000033
CYP27B1	Human	vitamin D metabolic process		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:9371776 and REF_RGD_ID:69372
CYP27B1	Human	vitamin D metabolic process	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-196791
CYP27B1	Human	vitamin D metabolic process	involved_in	IDA		150520179	PMID:9415400	BHF-UCL	PMID:9415400
CYP27B1	Human	vitamin metabolic process	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-211916

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	cytoplasm	located_in	IDA		150520179	PMID:15589699 and PMID:16720713	BHF-UCL	PMID:15589699 and PMID:16720713
CYP27B1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	mitochondrial membrane	located_in	IEA	UniProtKB-SubCell:SL-0171	150520179		UniProt	GO_REF:0000044
CYP27B1	Human	mitochondrial outer membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-209868 and Reactome:R-HSA-5602186
CYP27B1	Human	mitochondrion	is_active_in	IBA	PANTHER:PTN001209853 and Cyp27a1 (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
CYP27B1	Human	mitochondrion	located_in	TAS		150520179	PMID:9333115	BHF-UCL	PMID:9333115
CYP27B1	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
CYP27B1	Human	mitochondrion	located_in	ISS	UniProtKB:O35084	150520179		BHF-UCL	GO_REF:0000024

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	calcidiol 1-monooxygenase activity		ISO	Cyp27b1 (Rattus norvegicus)	9068941		RGD	PMID:9371776 and REF_RGD_ID:69372
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	IEA	UniProtKB:O35084 and ensembl:ENSMUSP00000130005	150520179		Ensembl	GO_REF:0000107
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	TAS		150520179		Reactome	Reactome:R-HSA-209868 and Reactome:R-HSA-5602186
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	IDA		150520179	PMID:15795327 more ...	UniProt	PMID:15795327 more ...
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	IEA	EC:1.14.15.18	150520179		UniProt	GO_REF:0000003
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	IEA	RHEA:20573	150520179		RHEA	GO_REF:0000116
CYP27B1	Human	calcidiol 1-monooxygenase activity	enables	IBA	MGI:1098274 more ...	150520179		GO_Central	GO_REF:0000033
CYP27B1	Human	heme binding	enables	IEA	InterPro:IPR001128 more ...	150520179		InterPro	GO_REF:0000002
CYP27B1	Human	iron ion binding	enables	IEA	InterPro:IPR001128 more ...	150520179		InterPro	GO_REF:0000002
CYP27B1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	monooxygenase activity	enables	IEA	InterPro:IPR001128 more ...	150520179		InterPro	GO_REF:0000002
CYP27B1	Human	monooxygenase activity	enables	IEA	UniProtKB-KW:KW-0503	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043
CYP27B1	Human	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	enables	IEA	InterPro:IPR001128 more ...	150520179		InterPro	GO_REF:0000002
CYP27B1	Human	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	enables	IEA	ARBA:ARBA00027645	150520179		UniProt	GO_REF:0000117
CYP27B1	Human	secalciferol 1-monooxygenase activity	enables	IEA	RHEA:49064	150520179		RHEA	GO_REF:0000116
CYP27B1	Human	secalciferol 1-monooxygenase activity	enables	IDA		150520179	PMID:10518789	UniProt	PMID:10518789

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	tuberculosis pathway		IEA		6907045		KEGG	hsa:05152

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	Decreased circulating vitamin D concentration	severity	IAGP		25671413	DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)	RGD
CYP27B1	Human	Increased hepatitis B virus antibody level	severity	IAGP		25671410	DNA:SNP:promoter: -1260C>A (rs10877012) (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	Abdominal wall muscle weakness		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Abnormal blood chloride concentration		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Bone pain		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Bone pain		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Bowing of the legs		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Bulging epiphyses		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Bulging of the costochondral junction		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Cardiomyopathy		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Childhood onset		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Decreased circulating calcifediol concentration		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Deformed rib cage		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Deformed rib cage		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Delayed epiphyseal ossification		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Delayed eruption of teeth		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Delayed eruption of teeth		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Difficulty standing		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Elevated alkaline phosphatase of bone origin		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Elevated circulating alkaline phosphatase concentration		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Elevated circulating alkaline phosphatase concentration		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Elevated circulating parathyroid hormone level		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Elevated circulating parathyroid hormone level		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Enamel hypoplasia		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Enamel hypoplasia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Enlargement of the ankles		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Enlargement of the ankles		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Enlargement of the costochondral junction		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Enlargement of the costochondral junction		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Enlargement of the wrists		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Enlargement of the wrists		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Failure to thrive		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Failure to thrive		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Femoral bowing		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Femoral bowing		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Fibular bowing		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Flat occiput		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Flat occiput		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Frontal bossing		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Frontal bossing		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Gait disturbance		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Generalized aminoaciduria		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Generalized aminoaciduria		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Generalized hypotonia		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Generalized hypotonia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Genu varum		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Growth delay		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Hepatomegaly		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Hypocalcemia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Hypocalcemia		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Hypocalcemic seizures		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Hypocalcemic seizures		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Hypocalciuria		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Hypochromic anemia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Hypophosphatemia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Hypophosphatemia		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Hypotonia		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Increased susceptibility to fractures		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Infantile onset		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Irregular, rachitic-like metaphyses		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Irritability		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Irritability		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Ketonuria		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Leukocytosis		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Low serum calcitriol		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Low serum calcitriol		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Metabolic acidosis		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Metaphyseal cupping		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Metaphyseal irregularity		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Motor delay		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Motor delay		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Muscle weakness		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Muscle weakness		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Osteomalacia		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Postnatal growth retardation		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Postnatal growth retardation		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Protuberant abdomen		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Protuberant abdomen		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Rachitic rosary		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Rachitic rosary		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Recurrent fractures		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Reduced subcutaneous adipose tissue		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Renal phosphate wasting		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Rickets		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Rickets		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Secondary hyperparathyroidism		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Secondary hyperparathyroidism		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Short stature		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Sparse bone trabeculae		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Sparse bone trabeculae		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Splenomegaly		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Subperiosteal bone resorption		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Subperiosteal bone resorption		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Tetany		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Thin bony cortex		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Thin bony cortex		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Tibial bowing		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Tibial bowing		IAGP		8699517		HPO	MIM:264700
CYP27B1	Human	Wide cranial sutures		IAGP		8699517		HPO	ORPHA:289157
CYP27B1	Human	Widely patent fontanelles and sutures		IAGP		8699517		HPO	MIM:264700

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CYP27B1	Human	Spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.	Bailey R, etal., Diabetes. 2007 Oct;56(10):2616-21. Epub 2007 Jul 2.
2.	Vitamin D Deficiency Increases Lipogenesis and Reduces Beta-Oxidation in the Liver of Diet-Induced Obese Mice.	Borges CC, etal., J Nutr Sci Vitaminol (Tokyo). 2018;64(2):106-115. doi: 10.3177/jnsv.64.106.
3.	Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease.	Carpenter TO, etal., Am J Physiol. 1988 Feb;254(2 Pt 1):E150-4.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Role of insulin in the stimulation of renal 25-hydroxyvitamin D3-1 alpha-hydroxylase by phosphorus deprivation in rats.	Ikeda K, etal., Metabolism. 1987 Jun;36(6):555-7.
6.	Metabolic acidosis suppresses 25-hydroxyvitamin in D3-1alpha-hydroxylase in the rat kidney. Distinct site and mechanism of action.	Kawashima H, etal., J Clin Invest. 1982 Jul;70(1):135-40.
7.	Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.	Kitanaka S, etal., N Engl J Med. 1998 Mar 5;338(10):653-61.
8.	Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy.	Lange CM, etal., J Hepatol. 2011 May;54(5):887-93. doi: 10.1016/j.jhep.2010.08.036. Epub 2011 Jan 20.
9.	Expressions of vitamin D metabolic components VDBP, CYP2R1, CYP27B1, CYP24A1, and VDR in placentas from normal and preeclamptic pregnancies.	Ma R, etal., Am J Physiol Endocrinol Metab. 2012 Oct 1;303(7):E928-35. doi: 10.1152/ajpendo.00279.2012. Epub 2012 Aug 7.
10.	The deficiency and the supplementation of vitamin D and liver: Lessons of chronic fructose-rich diet in mice.	Maia-Ceciliano TC, etal., J Steroid Biochem Mol Biol. 2019 Sep;192:105399. doi: 10.1016/j.jsbmb.2019.105399. Epub 2019 Jun 5.
11.	Possible mechanism of impaired calcium and vitamin D metabolism in nephrotic rats.	Mizokuchi M, etal., Kidney Int. 1992 Aug;42(2):335-40.
12.	Generation of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions.	Nishikawa M, etal., Sci Rep. 2020 Mar 30;10(1):5677. doi: 10.1038/s41598-020-62048-1.
13.	Vitamin D and calcium co-therapy mitigates pre-established cadmium nephropathy by regulating renal calcium homeostatic molecules and improving anti-oxidative and anti-inflammatory activities in rat.	Obaid AA, etal., J Trace Elem Med Biol. 2023 May 24;79:127221. doi: 10.1016/j.jtemb.2023.127221.
14.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
15.	Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction.	Panda DK, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7498-503.
16.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
17.	Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms.	Ramos-Lopez E, etal., Diabetes Obes Metab. 2008 Aug;10(8):683-5. Epub 2008 May 12.
18.	CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients.	Ramos-Lopez E, etal., J Steroid Biochem Mol Biol. 2007 Mar;103(3-5):807-10. Epub 2007 Jan 16.
19.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
21.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22.	Effects of repeated administration of rifampicin and isoniazid on vitamin D metabolism in mice.	Sheng L, etal., Steroids. 2015 Dec;104:203-7. doi: 10.1016/j.steroids.2015.10.004. Epub 2015 Oct 22.
23.	Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients.	Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.
24.	Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection.	Zhu Q, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1115-21. doi: 10.1089/gtmb.2012.0148.

PMID:1662663	PMID:1690216	PMID:1971995	PMID:9282826	PMID:9295274	PMID:9333115	PMID:9344864	PMID:9415400	PMID:9428799	PMID:9837822	PMID:10320521	PMID:10359826
PMID:10518789	PMID:10566658	PMID:11799066	PMID:12039697	PMID:12050193	PMID:12050281	PMID:12107095	PMID:12137802	PMID:12161526	PMID:12386916	PMID:12477932	PMID:12496369
PMID:12520522	PMID:12746631	PMID:12855575	PMID:14671156	PMID:15225751	PMID:15243130	PMID:15296474	PMID:15331405	PMID:15342556	PMID:15583024	PMID:15589699	PMID:15795327
PMID:15947108	PMID:15951480	PMID:15956353	PMID:16061850	PMID:16549446	PMID:16720713	PMID:17023519	PMID:17079137	PMID:17207990	PMID:17207994	PMID:17236759	PMID:17254772
PMID:17267208	PMID:17287116	PMID:17368179	PMID:17395559	PMID:17395703	PMID:17426122	PMID:17488797	PMID:17878529	PMID:17932346	PMID:18495603	PMID:18676680	PMID:18689381
PMID:18767073	PMID:18767934	PMID:18768522	PMID:18843020	PMID:19064572	PMID:19154546	PMID:19170196	PMID:19219539	PMID:19255064	PMID:19343046	PMID:19453261	PMID:19454612
PMID:19505920	PMID:19524013	PMID:19525955	PMID:19625176	PMID:19667158	PMID:19706847	PMID:19783860	PMID:19852851	PMID:19891555	PMID:19913121	PMID:19951419	PMID:19966181
PMID:19998245	PMID:20007432	PMID:20082271	PMID:20152900	PMID:20304056	PMID:20453000	PMID:20518841	PMID:20534770	PMID:20619365	PMID:20628086	PMID:20648053	PMID:20654748
PMID:20687218	PMID:20701904	PMID:20809279	PMID:20831823	PMID:20847308	PMID:20877624	PMID:21107545	PMID:21440908	PMID:21441443	PMID:21542014	PMID:21833088	PMID:21869486
PMID:21873635	PMID:22190362	PMID:22326730	PMID:22443290	PMID:22446158	PMID:22511602	PMID:22516854	PMID:22547098	PMID:22588163	PMID:22612324	PMID:22862690	PMID:22995334
PMID:23045480	PMID:23063903	PMID:23149444	PMID:23286944	PMID:23334593	PMID:23423976	PMID:23444327	PMID:23483640	PMID:23614044	PMID:23886824	PMID:23894780	PMID:24029861
PMID:24158849	PMID:24245571	PMID:24308945	PMID:24371450	PMID:24471562	PMID:24535953	PMID:24576880	PMID:24643654	PMID:25060765	PMID:25284246	PMID:25371233	PMID:25488826
PMID:25501638	PMID:25542806	PMID:25544771	PMID:26124321	PMID:26241700	PMID:26291067	PMID:26466946	PMID:26575398	PMID:26607259	PMID:27016371	PMID:27074284	PMID:27175669
PMID:27210415	PMID:27287609	PMID:27381199	PMID:27399352	PMID:27618536	PMID:27904983	PMID:27922682	PMID:27977320	PMID:28009432	PMID:28033387	PMID:28074193	PMID:28594127
PMID:28622535	PMID:28665452	PMID:28665937	PMID:28926322	PMID:29110708	PMID:29175129	PMID:29457277	PMID:29502202	PMID:29549592	PMID:30172168	PMID:30382318	PMID:30578920
PMID:30668811	PMID:30875612	PMID:30887870	PMID:30993743	PMID:31235702	PMID:31398293	PMID:31467173	PMID:31520221	PMID:31696245	PMID:32001361	PMID:32056782	PMID:32127688
PMID:32142934	PMID:32183826	PMID:32197412	PMID:32260235	PMID:32393512	PMID:32844632	PMID:32915988	PMID:32926064	PMID:32932410	PMID:33058307	PMID:33109593	PMID:33259013
PMID:33305962	PMID:33594806	PMID:33823104	PMID:33961781	PMID:33961971	PMID:34226633	PMID:34250710	PMID:34800366	PMID:34977256	PMID:35166042	PMID:35508323	PMID:36321535
PMID:36326421	PMID:36524979	PMID:37244301	PMID:38876405

CYP27B1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,762,334 - 57,768,986 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,156,117 - 58,160,861 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	56,442,385 - 56,447,151	NCBI
Celera	12	57,813,712 - 57,818,571 (-)	NCBI		Celera
Cytogenetic Map	12	q14.1	NCBI
HuRef	12	55,192,956 - 55,197,815 (-)	NCBI		HuRef
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI		T2T-CHM13v2.0

Cyp27b1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	126,884,115 - 126,891,897 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	126,884,119 - 126,888,875 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	127,048,246 - 127,054,884 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	127,048,250 - 127,053,006 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	126,485,302 - 126,490,062 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	126,451,200 - 126,455,955 (+)	NCBI		MGSCv36	mm8
Celera	10	129,440,145 - 129,444,905 (+)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	74.5	NCBI

Cyp27b1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	64,756,626 - 64,761,570 (+)	NCBI		GRCr8
mRatBN7.2	7	62,869,340 - 62,876,242 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	62,871,297 - 62,876,241 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	64,760,608 - 64,765,551 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	66,963,010 - 66,967,953 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	66,764,060 - 66,769,003 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	70,333,150 - 70,340,006 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	70,335,061 - 70,340,005 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	70,512,763 - 70,517,707 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	7	60,014,507 - 60,019,451 (+)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

LOC102011841
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955458	5,472,404 - 5,477,001 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	5,472,404 - 5,477,001 (-)	NCBI	ChiLan1.0	ChiLan1.0

CYP27B1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	36,572,617 - 36,578,661 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	36,569,388 - 36,575,667 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	31,158,814 - 31,164,462 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	31,419,773 - 31,424,822 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	31,419,773 - 31,424,822 (+)	Ensembl	panpan1.1		panPan2

CYP27B1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	1,825,224 - 1,830,845 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	1,826,046 - 1,829,911 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	1,888,246 - 1,893,920 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	1,834,457 - 1,840,136 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	1,834,464 - 1,839,154 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	1,812,161 - 1,817,832 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	2,054,207 - 2,059,882 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	2,179,134 - 2,184,808 (-)	NCBI		UU_Cfam_GSD_1.0

LOC101978323
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	56,964,979 - 56,970,660 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	1,900,259 - 1,904,104 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	1,899,686 - 1,904,104 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CYP27B1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	23,053,892 - 23,058,470 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	23,053,129 - 23,058,865 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CYP27B1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	53,675,704 - 53,681,372 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	53,675,226 - 53,680,443 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	192,280,050 - 192,285,176 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

LOC101700851
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624802	10,176,919 - 10,181,657 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	10,176,865 - 10,181,725 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in CYP27B1
494 total Variants

Predicted Target Of

	Summary Value
Count of predictions:	1889
Count of miRNA genes:	825
Interacting mature miRNAs:	970
Transcripts:	ENST00000228606, ENST00000546496, ENST00000546567, ENST00000547344, ENST00000547451, ENST00000552186
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

A007H24

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,162,434 - 58,162,686	UniSTS	GRCh37
Build 36	12	56,448,701 - 56,448,953	RGD	NCBI36
Celera	12	57,820,029 - 57,820,281	RGD
Cytogenetic Map	12	q13.1-q13.3	UniSTS
Cytogenetic Map	12	q13	UniSTS
HuRef	12	55,199,273 - 55,199,525	UniSTS
GeneMap99-GB4 RH Map	12	251.37	UniSTS

RH48116

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,156,285 - 58,156,405	UniSTS	GRCh37
Build 36	12	56,442,552 - 56,442,672	RGD	NCBI36
Celera	12	57,813,880 - 57,814,000	RGD
Cytogenetic Map	12	q13.1-q13.3	UniSTS
HuRef	12	55,193,124 - 55,193,244	UniSTS
GeneMap99-GB4 RH Map	12	277.56	UniSTS
NCBI RH Map	12	459.1	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2429	2786	2228	4922	1719	2341	4	618	1860	460	2268	7166	6344	51	3688	847	1730	1612	170


RefSeq Transcripts	NG_007076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000785	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB005038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB005989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB005990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB006987	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB767277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC025165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF020192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF027152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF072470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF246895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF256213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF500480	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW449645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY288916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP296031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925367	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925369	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ925371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000228606 ⟹ ENSP00000228606

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

Ensembl Acc Id:

ENST00000546496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,470 - 57,766,456 (-)	Ensembl

Ensembl Acc Id:

ENST00000546567 ⟹ ENSP00000449472

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,764,137 - 57,765,685 (-)	Ensembl

Ensembl Acc Id:

ENST00000546609 ⟹ ENSP00000476959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,011 - 57,768,986 (-)	Ensembl

Ensembl Acc Id:

ENST00000547344

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,095 (-)	Ensembl

Ensembl Acc Id:

ENST00000547451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,764,544 - 57,765,685 (-)	Ensembl

Ensembl Acc Id:

ENST00000552186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,765,457 - 57,766,511 (-)	Ensembl

Ensembl Acc Id:

ENST00000713544 ⟹ ENSP00000518840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

Ensembl Acc Id:

ENST00000713545 ⟹ ENSP00000518841

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,078 (-)	Ensembl

Ensembl Acc Id:

ENST00000718428 ⟹ ENSP00000520812

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,762,334 - 57,767,251 (-)	Ensembl

RefSeq Acc Id:

NM_000785 ⟹ NP_000776

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,762,334 - 57,767,078 (-)	NCBI
GRCh37	12	58,156,117 - 58,160,976 (-)	ENTREZGENE
Build 36	12	56,442,384 - 56,447,243 (-)	NCBI Archive
HuRef	12	55,192,956 - 55,197,815 (-)	ENTREZGENE
CHM1_1	12	58,123,921 - 58,128,780 (-)	NCBI
T2T-CHM13v2.0	12	57,730,683 - 57,735,427 (-)	NCBI

Sequence:

show sequence

AGAAGCGCTTTCTTTCGCGAGCACCCTGAACCAGACCATGACCCAGACCCTCAAGTACGCCTCCAGAGTGTTCCATCGCGTCCGCTGGGCGCCCGAGTTGGGCGCCTCCCTAGGCTACCGAGAGTACC
ACTCAGCACGCCGGAGCTTGGCAGACATCCCAGGCCCCTCTACGCCCAGCTTTCTGGCCGAACTTTTCTGCAAGGGGGGGCTGTCGAGGCTACACGAGCTGCAGGTGCAGGGCGCCGCGCACTTCGGG
CCGGTGTGGCTAGCCAGCTTTGGGACAGTGCGCACCGTGTACGTGGCTGCCCCTGCACTCGTCGAGGAGCTGCTGCGACAGGAGGGACCCCGGCCCGAGCGCTGCAGCTTCTCGCCCTGGACGGAGCA
CCGCCGCTGCCGCCAGCGGGCTTGCGGACTGCTCACTGCGGAAGGCGAAGAATGGCAAAGGCTCCGCAGTCTCCTGGCCCCGCTCCTCCTCCGGCCTCAAGCGGCCGCCCGCTACGCCGGAACCCTGA
ACAACGTAGTCTGCGACCTTGTGCGGCGTCTGAGGCGCCAGCGGGGACGTGGCACGGGGCCGCCCGCCCTGGTTCGGGACGTGGCGGGGGAATTTTACAAGTTCGGACTGGAAGGCATCGCCGCGGTT
CTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAAGTGCCACCCGACACGGAGACCTTCATCCGCGCTGTGGGCTCGGTGTTTGTGTCCACGCTGTTGACCATGGCGATGCCCCACTGGCTGCGCCA
CCTTGTGCCTGGGCCCTGGGGCCGCCTCTGCCGAGACTGGGACCAGATGTTTGCATTTGCTCAGAGGCACGTGGAGCGGCGAGAGGCAGAGGCAGCCATGAGGAACGGAGGACAGCCCGAGAAGGACC
TGGAGTCTGGGGCGCACCTGACCCACTTCCTGTTCCGGGAAGAGTTGCCTGCCCAGTCCATCCTGGGAAATGTGACAGAGTTGCTATTGGCGGGAGTGGACACGGTGTCCAACACGCTCTCTTGGGCT
CTGTATGAGCTCTCCCGGCACCCCGAAGTCCAGACAGCACTCCACTCAGAGATCACAGCTGCCCTGAGCCCTGGCTCCAGTGCCTACCCCTCAGCCACTGTTCTGTCCCAGCTGCCCCTGCTGAAGGC
GGTGGTCAAGGAAGTGCTAAGACTGTACCCTGTGGTACCTGGAAATTCTCGTGTCCCAGACAAAGACATTCATGTGGGTGACTATATTATCCCCAAAAATACGCTGGTCACTCTGTGTCACTATGCCA
CTTCAAGGGACCCTGCCCAGTTCCCAGAGCCAAATTCTTTTCGTCCAGCTCGCTGGCTGGGGGAGGGTCCCACCCCCCACCCATTTGCATCTCTTCCCTTTGGCTTTGGCAAGCGCAGCTGTATGGGG
AGACGCCTGGCAGAGCTTGAATTGCAAATGGCTTTGGCCCAGATCCTAACACATTTTGAGGTGCAGCCTGAGCCAGGTGCGGCCCCAGTTAGACCCAAGACCCGGACTGTCCTGGTACCTGAAAGGAG
CATCAACCTACAGTTTTTGGACAGATAGTCCCATGGAAAGAGACTGTCATCATCACCCTTTCATTCATCATAGGGATAAGATTTTTTGTAGGCACAAGACCAAGGTATACATCTTCCCCTAATGCCTA
TCTGACCAAACTGGATAGAACCACCATAGTGAAGTGTGAGGCGGCCCTGACCAATGTGTGAAGTATGCACTTGGCCTGACTCAGGAAGCCAGGTGAGAAAACCATGGTCTCTCTGCTTGCTTGGCCCT
TCTGATCATGTATGCATCCCCCAAGGATGAAATCAGATTTTAACTAATAATGCTGGATGGCCTGAGGAAAGATTCAACTGCCTCTCTTTTTGGGCTTTCATAGTGTTCATTGATGCTGCTGGCTAAGC
ATTTATCAAAGCATAAGCTCAGTAACTGTGCATCTGGTCTGTACCTGGTTGGTCCTTCGTCTTTGCATGTAAGCTCTTTGAGAGGAAGGGTGAAGCCTTATTTGTTTTTTATGTCCCCTGCCAGGGCC
TGTCTCTGACTAGGTGTCACCATACACATTCTTAGATTGAATCTGAACCATGTGGCAGAAGGGATAAGCAGCTTACTTAGTAGGCTCTGTCTACCCCCTTCCTTCTTTGTCTTGCCCCTAGGAAGGTG
AATCTGCCCTAGCCTGGTTTACGGTTTCTTATAACTCTCCTTTGCTCTCTGGCCACTATTAAGTGGGTTTGCCCCATCACTTAGTTCTCAGGCAGAGACATCTTTGGGCCTGTCCCTGCCCAGGCCTC
TGGCTTTTTATATTGAAAATTTTTAAATATTCACAAATTTTAGAATAAATCAAATATTCCATTCTTGA

hide sequence


Protein RefSeqs	NP_000776	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC51853	(Get FASTA)	NCBI Sequence Viewer
	AAC51854	(Get FASTA)	NCBI Sequence Viewer
	AAD38325	(Get FASTA)	NCBI Sequence Viewer
	AAF64299	(Get FASTA)	NCBI Sequence Viewer
	AAG00416	(Get FASTA)	NCBI Sequence Viewer
	AAI36387	(Get FASTA)	NCBI Sequence Viewer
	AAM21669	(Get FASTA)	NCBI Sequence Viewer
	AAP31972	(Get FASTA)	NCBI Sequence Viewer
	BAA22656	(Get FASTA)	NCBI Sequence Viewer
	BAA22657	(Get FASTA)	NCBI Sequence Viewer
	BAA23416	(Get FASTA)	NCBI Sequence Viewer
	BAA23418	(Get FASTA)	NCBI Sequence Viewer
	BAG37458	(Get FASTA)	NCBI Sequence Viewer
	BAM93575	(Get FASTA)	NCBI Sequence Viewer
	EAW97067	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000228606
	ENSP00000228606.4
GenBank Protein	O15528	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_000776 ⟸ NM_000785

- UniProtKB:

B2RC61 (UniProtKB/Swiss-Prot), Q548T3 (UniProtKB/Swiss-Prot), O15528 (UniProtKB/Swiss-Prot), A0AAA9YHN9 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASFGTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLT
AEGEEWQRLRSLLAPLLLRPQAAARYAGTLNNVVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPHWLRHLVPGPWGRLCRD
WDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVDTVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVV
PGNSRVPDKDIHVGDYIIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQPEPGAAPVRPKTRTVLVPERSINLQFLDR

hide sequence

Ensembl Acc Id:

ENSP00000228606 ⟸ ENST00000228606

Ensembl Acc Id:

ENSP00000476959 ⟸ ENST00000546609

Ensembl Acc Id:

ENSP00000449472 ⟸ ENST00000546567

Ensembl Acc Id:

ENSP00000518841 ⟸ ENST00000713545

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O15528-F1-model_v2	AlphaFold	O15528	1-508	view protein structure

RGD ID:

6789851

Promoter ID:

HG_KWN:16006

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

UC001SQB.1, UC001SQC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,445,246 - 56,446,682 (-)	MPROMDB

RGD ID:

6789852

Promoter ID:

HG_KWN:16007

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_000785, UC001SQA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,446,786 - 56,447,286 (-)	MPROMDB

RGD ID:

7224601

Promoter ID:

EPDNEW_H18047

Type:

initiation region

Name:

CYP27B1_3

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18049 EPDNEW_H18050

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,765,603 - 57,765,663	EPDNEW

RGD ID:

7224605

Promoter ID:

EPDNEW_H18049

Type:

multiple initiation site

Name:

CYP27B1_1

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18047 EPDNEW_H18050

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,767,078 - 57,767,138	EPDNEW

RGD ID:

7224609

Promoter ID:

EPDNEW_H18050

Type:

initiation region

Name:

CYP27B1_2

Description:

cytochrome P450 family 27 subfamily B member 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H18047 EPDNEW_H18049

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,769,131 - 57,769,191	EPDNEW

Database	Acc Id	Source(s)
COSMIC	CYP27B1	COSMIC
Ensembl Genes	ENSG00000111012	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000228606	ENTREZGENE
	ENST00000228606.9	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.630.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000111012	GTEx
HGNC ID	HGNC:2606	ENTREZGENE
Human Proteome Map	CYP27B1	Human Proteome Map
InterPro	CYP11_CYP27_families	UniProtKB/Swiss-Prot
	Cyt_P450	UniProtKB/Swiss-Prot
	Cyt_P450_CS	UniProtKB/Swiss-Prot
	Cyt_P450_E_grp-I	UniProtKB/Swiss-Prot
	Cyt_P450_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:1594	UniProtKB/Swiss-Prot
NCBI Gene	1594	ENTREZGENE
OMIM	609506	OMIM
PANTHER	CYTOCHROME P450 FAMILY 27 SUBFAMILY B MEMBER 1	UniProtKB/Swiss-Prot
	PTHR24279	UniProtKB/Swiss-Prot
Pfam	p450	UniProtKB/Swiss-Prot
PharmGKB	PA27099	PharmGKB
PRINTS	EP450I	UniProtKB/Swiss-Prot
	P450	UniProtKB/Swiss-Prot
PROSITE	CYTOCHROME_P450	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48264	UniProtKB/Swiss-Prot
UniProt	A0AAA9YHN9	ENTREZGENE, UniProtKB/TrEMBL
	A0AAA9YHZ6_HUMAN	UniProtKB/TrEMBL
	B2RC61	ENTREZGENE
	CP27B_HUMAN	UniProtKB/Swiss-Prot
	F8VWR7_HUMAN	UniProtKB/TrEMBL
	O15528	ENTREZGENE
	Q548T3	ENTREZGENE
	Q9UP42_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2RC61	UniProtKB/Swiss-Prot
	Q548T3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	CYP27B1	cytochrome P450 family 27 subfamily B member 1	CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar