BBOX1 (gamma-butyrobetaine hydroxylase 1)

Gene: BBOX1 (gamma-butyrobetaine hydroxylase 1) Homo sapiens

Analyze

Symbol:

BBOX1

Name:

gamma-butyrobetaine hydroxylase 1

RGD ID:

732171

HGNC Page

HGNC:964

Description:

Enables gamma-butyrobetaine dioxygenase activity; identical protein binding activity; and zinc ion binding activity. Involved in carnitine biosynthetic process. Located in extracellular exosome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BBH; BBOX; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1; G-BBH; gamma-BBH; gamma-butyrobetaine dioxygenase; gamma-butyrobetaine hydroxylase; gamma-butyrobetaine,2-oxoglutarate dioxygenase 1

RGD Orthologs

Alliance Genes

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):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BBOX1 (gamma-butyrobetaine hydroxylase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	BBOX1 (gamma-butyrobetaine hydroxylase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	NCBI	Ortholog
Sus scrofa (pig):	BBOX1 (gamma-butyrobetaine hydroxylase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	BBOX1 (gamma-butyrobetaine hydroxylase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Bbox1 (gamma-butyrobetaine hydroxylase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	bbox1 (butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	AIM17	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	CG10814	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG14630	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG5321	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	gbh-1	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	bbox1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	bbox1.S	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	11	27,040,815 - 27,127,809 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	27,040,725 - 27,127,809 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	27,062,362 - 27,149,356 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	27,019,085 - 27,105,930 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	27,019,573 - 27,105,930	NCBI
Celera	11	27,207,166 - 27,294,016 (+)	NCBI		Celera
Cytogenetic Map	11	p14.2	NCBI
HuRef	11	26,759,908 - 26,847,062 (+)	NCBI		HuRef
CHM1_1	11	27,061,931 - 27,148,767 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Experimental Liver Cirrhosis (EXP)

genetic disease (IAGP)

intellectual disability (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

(R)-carnitine (EXP)

1-benzylpiperazine (ISO)

1-naphthyl isothiocyanate (ISO)

17alpha-ethynylestradiol (EXP)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,4,7,8-Pentachlorodibenzofuran (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3,3',4,4'-tetrachlorobiphenyl (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-(trimethylammonio)butanoate (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

aluminium atom (EXP)

aluminium(0) (EXP)

amiodarone (EXP)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

coumarin (ISO)

cycloheximide (EXP)

cyclosporin A (EXP,ISO)

D-mannitol (ISO)

diquat (ISO)

doxorubicin (EXP)

endosulfan (EXP)

flutamide (ISO)

glafenine (ISO)

hydrogen peroxide (EXP)

isoniazide (EXP)

lead(0) (EXP)

lipopolysaccharide (EXP)

metacetamol (ISO)

methapyrilene (ISO)

methylmercury chloride (EXP)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

nefazodone (ISO)

nimesulide (ISO)

nitrofen (ISO)

O-methyleugenol (EXP)

ochratoxin A (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

potassium bromate (EXP)

potassium dichromate (ISO)

propiconazole (ISO)

Propiverine (ISO)

resveratrol (EXP,ISO)

rotenone (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

silicon dioxide (ISO)

sodium arsenate (EXP)

sodium arsenite (ISO)

sodium dichromate (ISO)

streptozocin (ISO)

succimer (ISO)

Tesaglitazar (ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

thioacetamide (ISO)

tolcapone (ISO)

troglitazone (ISO)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vancomycin (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

carnitine biosynthetic process (IBA,IDA,IEA)

Cellular Component

cytoplasm (IEA)

cytosol (IEA,ISO,TAS)

extracellular exosome (HDA)

mitochondrion (IBA,IEA)

Molecular Function

dioxygenase activity (IEA)

gamma-butyrobetaine dioxygenase activity (IBA,IDA,IEA,ISS)

identical protein binding (IPI)

iron ion binding (IEA)

metal ion binding (IEA)

oxidoreductase activity (IEA)

protein binding (IPI)

zinc ion binding (IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

carnitine biosynthetic pathway (EXP)

lysine degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1735445	PMID:1962562	PMID:3110383	PMID:3378057	PMID:6497835	PMID:7156861	PMID:9753662	PMID:10526231	PMID:12477932	PMID:15489334	PMID:16169070	PMID:16344560
PMID:17110165	PMID:18029348	PMID:19056867	PMID:19240061	PMID:20379614	PMID:20599753	PMID:20877624	PMID:21873635	PMID:23376485	PMID:25416956	PMID:26186194	PMID:27107014
PMID:28514442	PMID:29065368	PMID:30819181	PMID:32296183	PMID:32515533	PMID:33961781	PMID:35506252	PMID:35775648

Genomics

Comparative Map Data

BBOX1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	27,040,725 - 27,127,809 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	27,062,362 - 27,149,356 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	27,019,085 - 27,105,930 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	27,019,573 - 27,105,930	NCBI
Celera	11	27,207,166 - 27,294,016 (+)	NCBI		Celera
Cytogenetic Map	11	p14.2	NCBI
HuRef	11	26,759,908 - 26,847,062 (+)	NCBI		HuRef
CHM1_1	11	27,061,931 - 27,148,767 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI		T2T-CHM13v2.0

Bbox1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	110,094,401 - 110,145,158 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	110,093,042 - 110,144,905 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	110,264,056 - 110,314,813 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	110,262,697 - 110,314,560 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	110,105,240 - 110,145,882 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	110,065,922 - 110,106,564 (-)	NCBI		MGSCv36	mm8
Celera	2	111,425,130 - 111,465,702 (-)	NCBI		Celera
Cytogenetic Map	2	E3	NCBI
cM Map	2	56.7	NCBI

Bbox1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	117,277,226 - 117,326,383 (-)	NCBI		GRCr8
mRatBN7.2	3	96,822,654 - 96,871,786 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	96,822,655 - 96,871,458 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	100,395,476 - 100,434,388 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	108,994,430 - 109,033,342 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	106,746,656 - 106,785,585 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	101,425,684 - 101,474,848 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	101,427,055 - 101,474,890 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	108,023,621 - 108,070,883 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	95,747,735 - 95,786,852 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	95,644,162 - 95,683,280 (-)	NCBI
Celera	3	95,835,564 - 95,874,303 (-)	NCBI		Celera
Cytogenetic Map	3	q34	NCBI

Bbox1
(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_004955476	6,368,842 - 6,433,797 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955476	6,368,842 - 6,433,797 (+)	NCBI	ChiLan1.0	ChiLan1.0

BBOX1
(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	9	29,241,406 - 29,330,010 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	29,241,841 - 29,330,440 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	26,995,120 - 27,083,832 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	26,898,529 - 26,986,705 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	26,898,529 - 26,986,705 (+)	Ensembl	panpan1.1		panPan2

BBOX1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	47,707,648 - 47,766,732 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	47,706,717 - 47,766,503 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	47,198,477 - 47,257,514 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	48,848,545 - 48,906,661 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	21	47,834,272 - 47,892,256 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	48,002,172 - 48,061,307 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	48,588,367 - 48,647,500 (+)	NCBI		UU_Cfam_GSD_1.0

Bbox1
(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_024404947	36,893,678 - 36,958,956 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936540	6,048,472 - 6,153,731 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936540	6,048,481 - 6,113,627 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BBOX1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	33,227,974 - 33,296,559 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	33,227,965 - 33,296,013 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	35,864,213 - 35,883,328 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BBOX1
(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	1	37,970,238 - 38,063,854 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	37,967,283 - 38,062,244 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	135,283,933 - 135,376,803 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Bbox1
(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_004624766	16,903,323 - 16,957,584 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624766	16,903,327 - 16,962,176 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BBOX1
30 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	copy number loss	See cases [RCV000052648]	Chr11:22550115..38199159 [GRCh38] Chr11:22571661..38220709 [GRCh37] Chr11:22528237..38177285 [NCBI36] Chr11:11p14.3-12	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	copy number loss	See cases [RCV000135295]	Chr11:26368962..35252976 [GRCh38] Chr11:26390509..35274523 [GRCh37] Chr11:26347085..35231099 [NCBI36] Chr11:11p14.2-13	pathogenic
GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	copy number gain	See cases [RCV000134877]	Chr11:24595399..31096539 [GRCh38] Chr11:24616945..31118086 [GRCh37] Chr11:24573521..31074662 [NCBI36] Chr11:11p14.3-13	pathogenic
GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	copy number loss	See cases [RCV000137723]	Chr11:23024064..27978597 [GRCh38] Chr11:23045610..28000144 [GRCh37] Chr11:23002186..27956720 [NCBI36] Chr11:11p14.3-14.1	likely pathogenic
GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1	copy number loss	See cases [RCV000138880]	Chr11:26555328..27307056 [GRCh38] Chr11:26576875..27328603 [GRCh37] Chr11:26533451..27285179 [NCBI36] Chr11:11p14.2-14.1	uncertain significance
GRCh38/hg38 11p14.2(chr11:26984514-27161130)x3	copy number gain	See cases [RCV000141270]	Chr11:26984514..27161130 [GRCh38] Chr11:27006061..27182677 [GRCh37] Chr11:26962637..27139253 [NCBI36] Chr11:11p14.2	uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	copy number loss	See cases [RCV000142499]	Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13	pathogenic
GRCh38/hg38 11p14.2-14.1(chr11:26984514-27203827)x1	copy number loss	See cases [RCV000135787]	Chr11:26984514..27203827 [GRCh38] Chr11:27006061..27225374 [GRCh37] Chr11:26962637..27181950 [NCBI36] Chr11:11p14.2-14.1	uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	copy number loss	Aniridia 1 [RCV000420782]	Chr11:18536224..31923308 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400]	Chr11:21586131..33168232 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	copy number loss	See cases [RCV000512014]	Chr11:25771208..35614978 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_003986.3(BBOX1):c.959T>G (p.Leu320Arg)	single nucleotide variant	Inborn genetic diseases [RCV003282226]	Chr11:27125776 [GRCh38] Chr11:27147323 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.505A>C (p.Met169Leu)	single nucleotide variant	Inborn genetic diseases [RCV003274616]	Chr11:27093338 [GRCh38] Chr11:27114885 [GRCh37] Chr11:11p14.2	uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3	copy number gain	See cases [RCV000448603]	Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12	pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26992679-27238090)x1	copy number loss	See cases [RCV000510807]	Chr11:26992679..27238090 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
NM_003986.3(BBOX1):c.346T>C (p.Trp116Arg)	single nucleotide variant	Inborn genetic diseases [RCV003299478]	Chr11:27093179 [GRCh38] Chr11:27114726 [GRCh37] Chr11:11p14.2	uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	copy number gain	not provided [RCV000683363]	Chr11:25090108..28909131 [GRCh37] Chr11:11p14.3-14.1	uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1	copy number loss	not provided [RCV000737466]	Chr11:25196998..34196484 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_003986.3(BBOX1):c.930T>C (p.Phe310=)	single nucleotide variant	not provided [RCV000959171]	Chr11:27125747 [GRCh38] Chr11:27147294 [GRCh37] Chr11:11p14.2	benign
GRCh37/hg19 11p14.2-14.1(chr11:26992685-27238107)x1	copy number loss	not provided [RCV000849499]	Chr11:26992685..27238107 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1	copy number loss	not provided [RCV000737457]	Chr11:24469451..37524085 [GRCh37] Chr11:11p14.3-12	pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26994375-27249688)x1	copy number loss	not provided [RCV000749994]	Chr11:26994375..27249688 [GRCh37] Chr11:11p14.2-14.1	likely benign
GRCh37/hg19 11p14.2-14.1(chr11:26995119-27240951)x1	copy number loss	not provided [RCV000749995]	Chr11:26995119..27240951 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
GRCh37/hg19 11p14.2(chr11:27018019-27076070)x3	copy number gain	not provided [RCV000749996]	Chr11:27018019..27076070 [GRCh37] Chr11:11p14.2	benign
NM_003986.3(BBOX1):c.621C>T (p.Ala207=)	single nucleotide variant	not provided [RCV000962133]	Chr11:27115539 [GRCh38] Chr11:27137086 [GRCh37] Chr11:11p14.2	benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	copy number loss	not provided [RCV000849589]	Chr11:22079154..35597645 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3	copy number gain	not provided [RCV000846295]	Chr11:26975017..27238107 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x1	copy number loss	not provided [RCV000849939]	Chr11:26975017..27238107 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
NM_003986.3(BBOX1):c.399T>C (p.Tyr133=)	single nucleotide variant	not provided [RCV000911306]	Chr11:27093232 [GRCh38] Chr11:27114779 [GRCh37] Chr11:11p14.2	benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	copy number gain	not provided [RCV001006387]	Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13	pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	copy number gain	not provided [RCV001006388]	Chr11:13970757..27565888 [GRCh37] Chr11:11p15.2-14.1	pathogenic
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh37/hg19 11p14.2-14.1(chr11:26992679-27247518)x1	copy number loss	not provided [RCV001829249]	Chr11:26992679..27247518 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
NM_003986.3(BBOX1):c.247T>A (p.Tyr83Asn)	single nucleotide variant	Inborn genetic diseases [RCV002776721]	Chr11:27057228 [GRCh38] Chr11:27078775 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.8G>C (p.Cys3Ser)	single nucleotide variant	Inborn genetic diseases [RCV002990913]	Chr11:27055438 [GRCh38] Chr11:27076985 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.241G>A (p.Glu81Lys)	single nucleotide variant	Inborn genetic diseases [RCV002840741]	Chr11:27057222 [GRCh38] Chr11:27078769 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.363G>C (p.Gln121His)	single nucleotide variant	Inborn genetic diseases [RCV002973768]	Chr11:27093196 [GRCh38] Chr11:27114743 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.1013T>A (p.Ile338Asn)	single nucleotide variant	Inborn genetic diseases [RCV002691707]	Chr11:27127302 [GRCh38] Chr11:27148849 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.151C>T (p.Arg51Trp)	single nucleotide variant	Inborn genetic diseases [RCV002737436]	Chr11:27055581 [GRCh38] Chr11:27077128 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.981G>C (p.Lys327Asn)	single nucleotide variant	Inborn genetic diseases [RCV002737306]	Chr11:27125798 [GRCh38] Chr11:27147345 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.116C>T (p.Pro39Leu)	single nucleotide variant	Inborn genetic diseases [RCV002788772]	Chr11:27055546 [GRCh38] Chr11:27077093 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.616C>G (p.Pro206Ala)	single nucleotide variant	Inborn genetic diseases [RCV002850771]	Chr11:27115534 [GRCh38] Chr11:27137081 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.1007A>T (p.Asp336Val)	single nucleotide variant	Inborn genetic diseases [RCV002802474]	Chr11:27127296 [GRCh38] Chr11:27148843 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.77A>C (p.Glu26Ala)	single nucleotide variant	Inborn genetic diseases [RCV002920791]	Chr11:27055507 [GRCh38] Chr11:27077054 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.266A>T (p.Asp89Val)	single nucleotide variant	Inborn genetic diseases [RCV002855334]	Chr11:27057247 [GRCh38] Chr11:27078794 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.960C>A (p.Leu320=)	single nucleotide variant	BBOX1-related condition [RCV003909667]	Chr11:27125777 [GRCh38] Chr11:27147324 [GRCh37] Chr11:11p14.2	likely benign
GRCh37/hg19 11p14.2-14.1(chr11:26975017-27238107)x3	copy number gain	not provided [RCV000849079]	Chr11:26975017..27238107 [GRCh37] Chr11:11p14.2-14.1	uncertain significance
NM_003986.3(BBOX1):c.1157G>A (p.Gly386Glu)	single nucleotide variant	Inborn genetic diseases [RCV003273732]	Chr11:27127446 [GRCh38] Chr11:27148993 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.350G>T (p.Gly117Val)	single nucleotide variant	Inborn genetic diseases [RCV003339310]	Chr11:27093183 [GRCh38] Chr11:27114730 [GRCh37] Chr11:11p14.2	uncertain significance
NM_003986.3(BBOX1):c.209A>T (p.Asp70Val)	single nucleotide variant	Inborn genetic diseases [RCV003361866]	Chr11:27055639 [GRCh38] Chr11:27077186 [GRCh37] Chr11:11p14.2	uncertain significance
GRCh37/hg19 11p14.3-14.1(chr11:25454219-27238107)x1	copy number loss	not provided [RCV003483117]	Chr11:25454219..27238107 [GRCh37] Chr11:11p14.3-14.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	689
Count of miRNA genes:	363
Interacting mature miRNAs:	382
Transcripts:	ENST00000263182, ENST00000525090, ENST00000527505, ENST00000528583, ENST00000529202, ENST00000531832, ENST00000533566, ENST00000534323
Prediction methods:	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.

Markers in Region

RH79794

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,148,961 - 27,149,208	UniSTS	GRCh37
Build 36	11	27,105,537 - 27,105,784	RGD	NCBI36
Celera	11	27,293,623 - 27,293,870	RGD
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,846,669 - 26,846,916	UniSTS

RH103034

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,149,054 - 27,149,237	UniSTS	GRCh37
Build 36	11	27,105,630 - 27,105,813	RGD	NCBI36
Celera	11	27,293,716 - 27,293,899	RGD
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,846,762 - 26,846,945	UniSTS
GeneMap99-GB4 RH Map	11	102.17	UniSTS

D11S2804

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,079,437 - 27,079,601	UniSTS	GRCh37
Build 36	11	27,036,013 - 27,036,177	RGD	NCBI36
Celera	11	27,224,097 - 27,224,261	RGD
Cytogenetic Map	11	p14.2	UniSTS

D11S4058

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,149,066 - 27,149,194	UniSTS	GRCh37
Build 36	11	27,105,642 - 27,105,770	RGD	NCBI36
Celera	11	27,293,728 - 27,293,856	RGD
Cytogenetic Map	11	p14.2	UniSTS

SHGC-102216

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,125,627 - 27,125,921	UniSTS	GRCh37
Build 36	11	27,082,203 - 27,082,497	RGD	NCBI36
Celera	11	27,270,289 - 27,270,583	RGD
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,823,335 - 26,823,629	UniSTS
TNG Radiation Hybrid Map	11	13307.0	UniSTS

WI-18141

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,104,072 - 27,104,208	UniSTS	GRCh37
Build 36	11	27,060,648 - 27,060,784	RGD	NCBI36
Celera	11	27,248,729 - 27,248,865	RGD
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,801,439 - 26,801,575	UniSTS
GeneMap99-GB4 RH Map	11	95.23	UniSTS
Whitehead-RH Map	11	96.9	UniSTS

A006G34

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,149,115 - 27,149,273	UniSTS	GRCh37
Build 36	11	27,105,691 - 27,105,849	RGD	NCBI36
Celera	11	27,293,777 - 27,293,935	RGD
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,846,823 - 26,846,981	UniSTS
GeneMap99-GB4 RH Map	11	95.23	UniSTS

G32349

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	27,149,115 - 27,149,273	UniSTS	GRCh37
Celera	11	27,293,777 - 27,293,935	UniSTS
Cytogenetic Map	11	p14.2	UniSTS
HuRef	11	26,846,823 - 26,846,981	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

734

257

219

1298

1625

251

167

418

692

Low

110

418

661

300

195

923

196

1824

366

495

110

134

800

Below cutoff

1942

1944

242

879

1821

1632

203

749

535

957

1165

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001376258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001376261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011520402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047427691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047427692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047427693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC015756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC016450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF082868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA268467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471859	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ471870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000263182 ⟹ ENSP00000263182

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,040,815 - 27,127,809 (+)	Ensembl

RefSeq Acc Id:

ENST00000525090 ⟹ ENSP00000433772

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,055,217 - 27,127,671 (+)	Ensembl

RefSeq Acc Id:

ENST00000527505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,055,386 - 27,119,781 (+)	Ensembl

RefSeq Acc Id:

ENST00000528583 ⟹ ENSP00000434918

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,041,313 - 27,127,809 (+)	Ensembl

RefSeq Acc Id:

ENST00000529202 ⟹ ENSP00000435781

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,040,725 - 27,127,675 (+)	Ensembl

RefSeq Acc Id:

ENST00000531832

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,040,871 - 27,046,286 (+)	Ensembl

RefSeq Acc Id:

ENST00000533566 ⟹ ENSP00000435369

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,040,833 - 27,055,636 (+)	Ensembl

RefSeq Acc Id:

ENST00000534323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	27,055,426 - 27,057,433 (+)	Ensembl

RefSeq Acc Id:

NM_001376258 ⟹ NP_001363187

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

Sequence:

show sequence

ATATTGGAATACTCTGTTGACAAGTAGATACCACTTCACCTCTGCTAGGGTGAGCGCTGGTAGC
TCCTCCCTGTTAAATGCCCATCTCAATGCCTCTGCCCTAAGTGAGTTGTGCAATAAATGAGCTG
TCACTCTGAACAGGTGGGAAAGAAGTGAACTGCTTGTTCACTTGCTGCTGTTGCCACTGCTGGT
ACAGAAATAGAAGCACAAAAAAACAAAGACAAAAAACCTCCAAGCTCCCTTCAGTAGTTGCTAC
ACCTTCAGATTGAGACATCCTTCCTCATTTACAAACCTCAGCTGTGTCTGGGGGCAGGGCCACA
GTGAAACTGCCAGGAGCAAAAAGGCTTCCAAGAAAAAGTACCACATCAGATTGGAAACTGGGGA
CAGATCATTCCTGGGATGTGACGGGCACCAGAATGCTCCCTCTCCAAAGGATCTAAGGACCAAA
GCTGACAGTTTCTTTACTTGCAGGTAGCTGACAGCATCTACTCCTGAAGACCGGAAACATGGCT
TGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCTGGTATGATG
AGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGCTCTGATTGCTACCT
GGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGAATTAAAGGC
TTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTACAGTGAATTCCAGG
CTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAAAGAGAATTGTT
TTTTCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTTGAAGATGTT
TTAAGATATGATGAACACGCATACAAGTGGCTCTCCACCCTCAAGAAAGTAGGCATAGTAAGAC
TCACCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTA
TCTCACATTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTAC
ACAACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGGTTCAGC
TTCTTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGT
GTGCCAAAAACTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGAC
TTTACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGT
TAGATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTTGA
TGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTCATGAAC
AGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTGATAACTGGC
GCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGCCATCTAGAAGGAGC
TTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTGGAGAATGGA
AACTGAAGTCACCTGTAGATAATTTTAATAAGATTCCAATGACCATATTTTGTGAGATATGGCA
CATTATTCACAGACCATGATCTTTGTGATTTACATATAATTTCCTTAACAATGAACATGTAACT
TCTCTCACAAGAGTACTCTTTACTTTGTAATCATATACAATGTCAACTTTTTAGATGTTTCACC
ACTCTTTTGCAAATAAAGCATCCTTTCTGCTCTGTTGCATGCCTGCTCTAATTTCTTTTGCCCA
TATATGAGTATCTCCAGAATGTCTACAAATAGTTTTTGTAGCAAATGAAAATTTCTTCAAATAA
GCCTTTTGTTTCAAATAAAACTTGTCTCAAAACATGCTTCTA

hide sequence

RefSeq Acc Id:

NM_001376259 ⟹ NP_001363188

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

Sequence:

show sequence

ATATTGGAATACTCTGTTGACAAGTAGATACCACTTCACCTCTGCTAGGGTGAGCGCTGGTAGC
TCCTCCCTGTTAAATGCCCATCTCAATGCCTCTGCCCTAAGTGAGTTGTGCAATAAATGAGCTG
TCACTCTGAACAGGTGGGAAAGAAGTGAACTGCTTGTTCACTTGCTGCTGTTGCCACTGCTGGT
ACAGAAATAGAAGCACAAAAAAACAAAGACAAAAAACCTCCAAGCTCCCTTCAGTAGTTGCTAC
ACCTTCAGATTGAGACATCCTTCCTCATTTACAAACCTCAGCTGTGTCTGGGGGCAGGGCCACA
GTGAAACTGCCAGGAGCAAAAAGGCTTCCAAGAAAAAGTACCACATCAGATTGGAAACTGGGGA
CAGATCATTCCTGGGATGTGACGGGCACCAGAATGCTCCCTCTCCAAAGGATCTAAGGACCAAA
GCTGACAGTTTCTTTACTTGGTAGCTGACAGCATCTACTCCTGAAGACCGGAAACATGGCTTGT
ACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCTGGTATGATGAGG
AAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGCTCTGATTGCTACCTGGA
TTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGAATTAAAGGCTTG
ATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTACAGTGAATTCCAGGCTG
ATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAAAGAGAATTGTTTTT
TCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTTGAAGATGTTTTA
AGATATGATGAACACGCATACAAGTGGCTCTCCACCCTCAAGAAAGTAGGCATAGTAAGACTCA
CCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTATCT
CACATTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTACACA
ACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGGTTCAGCTTC
TTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGTGTG
CCAAAAACTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGACTTT
ACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGTTAG
ATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTTGATGT
GCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTCATGAACAGC
AAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTGATAACTGGCGCT
TACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGCCATCTAGAAGGAGCTTA
TGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTGGAGAATGGAAAC
TGAAGTCACCTGTAGATAATTTTAATAAGATTCCAATGACCATATTTTGTGAGATATGGCACAT
TATTCACAGACCATGATCTTTGTGATTTACATATAATTTCCTTAACAATGAACATGTAACTTCT
CTCACAAGAGTACTCTTTACTTTGTAATCATATACAATGTCAACTTTTTAGATGTTTCACCACT
CTTTTGCAAATAAAGCATCCTTTCTGCTCTGTTGCATGCCTGCTCTAATTTCTTTTGCCCATAT
ATGAGTATCTCCAGAATGTCTACAAATAGTTTTTGTAGCAAATGAAAATTTCTTCAAATAAGCC
TTTTGTTTCAAATAAAACTTGTCTCAAAACATGCTTCTA

hide sequence

RefSeq Acc Id:

NM_001376260 ⟹ NP_001363189

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

Sequence:

show sequence

ATATTGGAATACTCTGTTGACAAGTAGATACCACTTCACCTCTGCTAGGGTGAGCGCTGGTAGC
TCCTCCCTGTTAAATGCCCATCTCAATGCCTCTGCCCTAAGTGAGTTGTGCAATAAATGAGCTG
TCACTCTGAACAGGTGGGAAAGAAGTGAACTGCTTGTTCACTTGCTGCTGTTGCCACTGCTGGT
ACAGAAATAGAAGGTAAGACAGCACAAAAAAACAAAGACAAAAAACCTCCAAGCTCCCTTCAGT
AGTTGCTACACCTTCAGATTGAGACATCCTTCCTCATTTACAAACCTCAGCTGTGTCTGGGGGC
AGGGCCACAGTGAAACTGCCAGGAGCAAAAAGGCTTCCAAGAAAAAGTACCACATCAGATTGGA
AACTGGGGACAGATCATTCCTGGGATGTGACGGGCACCAGAATGCTCCCTCTCCAAAGGATCTA
AGGACCAAAGCTGACAGTTTCTTTACTTGGTAGCTGACAGCATCTACTCCTGAAGACCGGAAAC
ATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCTGGT
ATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGCTCTGATTG
CTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGAATT
AAAGGCTTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTACAGTGAAT
TCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAAAGAGA
ATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTTGAA
GATGTTTTAAGATATGATGAACACGCATACAAGTGGCTCTCCACCCTCAAGAAAGTAGGCATAG
TAAGACTCACCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGGTTT
CCTCTATCTCACATTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAAACAATGTG
GCTTACACAACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGG
TTCAGCTTCTTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTT
TAATGTGTGCCAAAAACTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTT
GTGGACTTTACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTA
TAGAGTTAGATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAAT
ATTTGATGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTC
ATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTGATA
ACTGGCGCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGCCATCTAGA
AGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTGGAG
AATGGAAACTGAAGTCACCTGTAGATAATTTTAATAAGATTCCAATGACCATATTTTGTGAGAT
ATGGCACATTATTCACAGACCATGATCTTTGTGATTTACATATAATTTCCTTAACAATGAACAT
GTAACTTCTCTCACAAGAGTACTCTTTACTTTGTAATCATATACAATGTCAACTTTTTAGATGT
TTCACCACTCTTTTGCAAATAAAGCATCCTTTCTGCTCTGTTGCATGCCTGCTCTAATTTCTTT
TGCCCATATATGAGTATCTCCAGAATGTCTACAAATAGTTTTTGTAGCAAATGAAAATTTCTTC
AAATAAGCCTTTTGTTTCAAATAAAACTTGTCTCAAAACATGCTTCTA

hide sequence

RefSeq Acc Id:

NM_001376261 ⟹ NP_001363190

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,041,800 - 27,127,809 (+)	NCBI
T2T-CHM13v2.0	11	27,182,280 - 27,268,300 (+)	NCBI

Sequence:

show sequence

AAACAGAAGAGACAGAGAGAACGCTGTCTAAAAAGAGACTGGGGATGGGGCAAGGAGGATTCTG
GTTGGATTTTCAAAATGTTCCCTGAATAATCCACAACCCATCCCAAAGAATGGTGACTGCATAT
GATACCCTAGCTCTTTGTTAAGCTCAAAAAGCTGACTATAACATGCCTCTTTAAAATGCTGGCC
AATTAAAGCCACTATGCACATCTTCAATTGTTTTGTTCCCTTAACGAAGCTCAAGAAGGTATAT
TACAGGTAGCTGACAGCATCTACTCCTGAAGACCGGAAACATGGCTTGTACCATCCAAAAGGCA
GAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCTGGTATGATGAGGAAGAGTCTCTCTACC
CAGCTGTATGGTTGAGAGACAACTGTCCGTGCTCTGATTGCTACCTGGATTCTGCAAAAGCACG
GAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGAATTAAAGGCTTGATATTTGACAGAAAA
AAGGTGTACATCACATGGCCCGATGAGCATTACAGTGAATTCCAGGCTGATTGGCTGAAGAAAA
GATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAAAGAGAATTGTTTTTTCCAGAATGCCAATA
CTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTTGAAGATGTTTTAAGATATGATGAACAC
GCATACAAGTGGCTCTCCACCCTCAAGAAAGTAGGCATAGTAAGACTCACCGGAGCATCTGACA
AACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGGTTTCCTCTATCTCACATTTTATGGACA
TACTTGGCAAGTGCAAGACAAAATCGATGCAAACAATGTGGCTTACACAACTGGGAAGCTAAGC
TTTCACACTGATTATCCAGCCCTCCATCATCCACCTGGGGTTCAGCTTCTTCACTGCATAAAGC
AAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGGGTTTAATGTGTGCCAAAAACTAAAGAA
AAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACCTTTGTGGACTTTACAGACATTGGAGTG
GATTACTGTGATTTTTCTGTACAATCAAAACATAAAATTATAGAGTTAGATGATAAAGGCCAAG
TGGTTCGCATCAACTTCAATAACGCAACTAGGGACACAATATTTGATGTGCCTGTTGAAAGAGT
TCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGACCTCATGAACAGCAAAGAATCCAAGTTT
ACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTGATAACTGGCGCTTACTTCATGGCCGAC
GTAGCTATGAAGCAGGAACTGAGATATCCCGCCATCTAGAAGGAGCTTATGCTGACTGGGATGT
GGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTGGAGAATGGAAACTGAAGTCACCTGTAG
ATAATTTTAATAAGATTCCAATGACCATATTTTGTGAGATATGGCACATTATTCACAGACCATG
ATCTTTGTGATTTACATATAATTTCCTTAACAATGAACATGTAACTTCTCTCACAAGAGTACTC
TTTACTTTGTAATCATATACAATGTCAACTTTTTAGATGTTTCACCACTCTTTTGCAAATAAAG
CATCCTTTCTGCTCTGTTGCATGCCTGCTCTAATTTCTTTTGCCCATATATGAGTATCTCCAGA
ATGTCTACAAATAGTTTTTGTAGCAAATGAAAATTTCTTCAAATAAGCCTTTTGTTTCAAATAA
AACTTGTCTCAAAACATGCTTCTA

hide sequence

RefSeq Acc Id:

NM_003986 ⟹ NP_003977

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI
GRCh37	11	27,062,252 - 27,149,354 (+)	NCBI
Build 36	11	27,019,085 - 27,105,930 (+)	NCBI Archive
HuRef	11	26,759,908 - 26,847,062 (+)	ENTREZGENE
CHM1_1	11	27,061,931 - 27,148,767 (+)	NCBI
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

Sequence:

show sequence

ATATTGGAATACTCTGTTGACAAGTAGATACCACTTCACCTCTGCTAGGGTGAGCGCTGGTAGC
TCCTCCCTGTTAAATGCCCATCTCAATGCCTCTGCCCTAAGTGAGTTGTGCAATAAATGAGCTG
TCACTCTGAACAGGTGGGAAAGAAGTGAACTGCTTGTTCACTTGCTGCTGTTGCCACTGCTGGT
ACAGAAATAGAAGGTAAGACAGCACAAAAAAACAAAGACAAAAAACCTCCAAGCTCCCTTCAGT
AGTTGCTACACCTTCAGATTGAGACATCCTTCCTCATTTACAAACCTCAGCTGTGTCTGGGGGC
AGGGCCACAGTGAAACTGCCAGGAGCAAAAAGGCTTCCAAGAAAAAGTACCACATCAGATTGGA
AACTGGGGACAGATCATTCCTGGGATGTGACGGGCACCAGAATGCTCCCTCTCCAAAGGATCTA
AGGACCAAAGCTGACAGTTTCTTTACTTGCAGGTAGCTGACAGCATCTACTCCTGAAGACCGGA
AACATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGATCCTCT
GGTATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGCTCTGA
TTGCTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACATTGGA
ATTAAAGGCTTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTACAGTG
AATTCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTCCAAAG
AGAATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGGATTTT
GAAGATGTTTTAAGATATGATGAACACGCATACAAGTGGCTCTCCACCCTCAAGAAAGTAGGCA
TAGTAAGACTCACCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGGATGGG
TTTCCTCTATCTCACATTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAAACAAT
GTGGCTTACACAACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCATCCACCTG
GGGTTCAGCTTCTTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTAGATGG
GTTTAATGTGTGCCAAAAACTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCTCTACC
TTTGTGGACTTTACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACATAAAA
TTATAGAGTTAGATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGGGACAC
AATATTTGATGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTGTTGAC
CTCATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTACTTTTG
ATAACTGGCGCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGCCATCT
AGAAGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGAGGGTG
GAGAATGGAAACTGAAGTCACCTGTAGATAATTTTAATAAGATTCCAATGACCATATTTTGTGA
GATATGGCACATTATTCACAGACCATGATCTTTGTGATTTACATATAATTTCCTTAACAATGAA
CATGTAACTTCTCTCACAAGAGTACTCTTTACTTTGTAATCATATACAATGTCAACTTTTTAGA
TGTTTCACCACTCTTTTGCAAATAAAGCATCCTTTCTGCTCTGTTGCATGCCTGCTCTAATTTC
TTTTGCCCATATATGAGTATCTCCAGAATGTCTACAAATAGTTTTTGTAGCAAATGAAAATTTC
TTCAAATAAGCCTTTTGTTTCAAATAAAACTTGTCTCAAAACATGCTTCTA

hide sequence

RefSeq Acc Id:

XM_011520402 ⟹ XP_011518704

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI

Sequence:

show sequence

TTCCTATTCCAGCCAAAATTGCAGAGAAAGGAGGGCATCAAGCTTAGGGGACCAATCCCTGTCT
TTCTACCAGTCCCTGATAACTACTCAAGCTCCCTTTAAAGAGGCTCATATTGGAATACTCTGTT
GACAAGTAGATACCACTTCACCTCTGCTAGGGTGAGCGCTGGTAGCTCCTCCCTGTTAAATGCC
CATCTCAATGCCTCTGCCCTAAGTGAGTTGTGCAATAAATGAGCTGTCACTCTGAACAGGTGGG
AAAGAAGTGAACTGCTTGTTCACTTGCTGCTGTTGCCACTGCTGGTACAGAAATAGAAGCACAA
AAAAACAAAGACAAAAAACCTCCAAGCTCCCTTCAGTAGTTGCTACACCTTCAGATTGAGACAT
CCTTCCTCATTTACAAACCTCAGCTGTGTCTGGGGGCAGGGCCACAGTGAAACTGCCAGGAGCA
AAAAGGCTTCCAAGAAAAAGTACCACATCAGATTGGAAACTGGGGACAGATCATTCCTGGGATG
TGACGGGCACCAGAATGCTCCCTCTCCAAAGGATCTAAGGACCAAAGCTGACAGTTTCTTTACT
TGTGCTGAAGAATCAGGAGACAAACTTGAATTTGTAATATTAAGAAAAAGAAAAAAAAGGAGAA
AACCCACACCCATCACTGAAGTAATTTCAAAAACAAGCAATTTACTTGTGCCCAACAGAAGTCC
CAGACAAACTTCTATTACTCTGAAGAGAAAAAATATGGTAGCTGACAGCATCTACTCCTGAAGA
CCGGAAACATGGCTTGTACCATCCAAAAGGCAGAAGCACTTGACGGGGCTCATTTGATGCAGAT
CCTCTGGTATGATGAGGAAGAGTCTCTCTACCCAGCTGTATGGTTGAGAGACAACTGTCCGTGC
TCTGATTGCTACCTGGATTCTGCAAAAGCACGGAAACTTCTAGTGGAAGCTCTTGATGTGAACA
TTGGAATTAAAGGCTTGATATTTGACAGAAAAAAGGTGTACATCACATGGCCCGATGAGCATTA
CAGTGAATTCCAGGCTGATTGGCTGAAGAAAAGATGCTTTTCCAAGCAGGCCAGAGCAAAGCTC
CAAAGAGAATTGTTTTTTCCAGAATGCCAATACTGGGGCTCAGAGCTCCAGCTACCCACTTTGG
ATTTTGAAGATGTTTTAAGATATGATGAACACGCATACAAGTGGCTCTCCACCCTCAAGAAAGT
AGGCATAGTAAGACTCACCGGAGCATCTGACAAACCAGGAGAAGTTTCAAAACTTGGGAAAAGG
ATGGGTTTCCTCTATCTCACATTTTATGGACATACTTGGCAAGTGCAAGACAAAATCGATGCAA
ACAATGTGGCTTACACAACTGGGAAGCTAAGCTTTCACACTGATTATCCAGCCCTCCATCATCC
ACCTGGGGTTCAGCTTCTTCACTGCATAAAGCAAACAGTCACAGGGGGTGATTCAGAAATTGTA
GATGGGTTTAATGTGTGCCAAAAACTAAAGAAAAATAATCCTCAGGCATTCCAGATTTTGTCCT
CTACCTTTGTGGACTTTACAGACATTGGAGTGGATTACTGTGATTTTTCTGTACAATCAAAACA
TAAAATTATAGAGTTAGATGATAAAGGCCAAGTGGTTCGCATCAACTTCAATAACGCAACTAGG
GACACAATATTTGATGTGCCTGTTGAAAGAGTTCAGCCTTTTTATGCTGCTCTGAAGGAGTTTG
TTGACCTCATGAACAGCAAAGAATCCAAGTTTACCTTCAAGATGAATCCAGGTGATGTGATTAC
TTTTGATAACTGGCGCTTACTTCATGGCCGACGTAGCTATGAAGCAGGAACTGAGATATCCCGC
CATCTAGAAGGAGCTTATGCTGACTGGGATGTGGTCATGTCAAGGCTTCGTATCTTAAGGCAGA
GGGTGGAGAATGGAAACTGAAGTCACCTGTAGATAATTTTAATAAGATTCCAATGACCATATTT
TGTGAGATATGGCACATTATTCACAGACCATGATCTTTGTGATTTACATATAATTTCCTTAACA
ATGAACATGTAACTTCTCTCACAAGAGTACTCTTTACTTTGTAATCATATACAATGTCAACTTT
TTAGATGTTTCACCACTCTTTTGCAAATAAAGCATCCTTTCTGCTCTGTTGCA

hide sequence

RefSeq Acc Id:

XM_047427691 ⟹ XP_047283647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,055,369 - 27,127,809 (+)	NCBI

RefSeq Acc Id:

XM_047427692 ⟹ XP_047283648

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI

RefSeq Acc Id:

XM_047427693 ⟹ XP_047283649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,040,815 - 27,127,809 (+)	NCBI

RefSeq Acc Id:

XM_054370159 ⟹ XP_054226134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

RefSeq Acc Id:

XM_054370160 ⟹ XP_054226135

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

RefSeq Acc Id:

XM_054370161 ⟹ XP_054226136

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	27,181,297 - 27,268,300 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001363187	(Get FASTA)	NCBI Sequence Viewer
	NP_001363188	(Get FASTA)	NCBI Sequence Viewer
	NP_001363189	(Get FASTA)	NCBI Sequence Viewer
	NP_001363190	(Get FASTA)	NCBI Sequence Viewer
	NP_003977	(Get FASTA)	NCBI Sequence Viewer
	XP_011518704	(Get FASTA)	NCBI Sequence Viewer
	XP_047283647	(Get FASTA)	NCBI Sequence Viewer
	XP_047283648	(Get FASTA)	NCBI Sequence Viewer
	XP_047283649	(Get FASTA)	NCBI Sequence Viewer
	XP_054226134	(Get FASTA)	NCBI Sequence Viewer
	XP_054226135	(Get FASTA)	NCBI Sequence Viewer
	XP_054226136	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC64066	(Get FASTA)	NCBI Sequence Viewer
	AAH11034	(Get FASTA)	NCBI Sequence Viewer
	ABF17859	(Get FASTA)	NCBI Sequence Viewer
	ABF17860	(Get FASTA)	NCBI Sequence Viewer
	ABF17861	(Get FASTA)	NCBI Sequence Viewer
	ABF17862	(Get FASTA)	NCBI Sequence Viewer
	ABF17863	(Get FASTA)	NCBI Sequence Viewer
	ABF17864	(Get FASTA)	NCBI Sequence Viewer
	ABF17865	(Get FASTA)	NCBI Sequence Viewer
	ABF17866	(Get FASTA)	NCBI Sequence Viewer
	ABF17867	(Get FASTA)	NCBI Sequence Viewer
	ABF17868	(Get FASTA)	NCBI Sequence Viewer
	ABF17869	(Get FASTA)	NCBI Sequence Viewer
	ABF17870	(Get FASTA)	NCBI Sequence Viewer
	ABF17871	(Get FASTA)	NCBI Sequence Viewer
	BAF82797	(Get FASTA)	NCBI Sequence Viewer
	BAG36214	(Get FASTA)	NCBI Sequence Viewer
	CAG33093	(Get FASTA)	NCBI Sequence Viewer
	EAW68290	(Get FASTA)	NCBI Sequence Viewer
	EAW68291	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000263182
	ENSP00000263182.3
	ENSP00000433772
	ENSP00000433772.1
	ENSP00000434918.1
	ENSP00000435369.1
	ENSP00000435781
	ENSP00000435781.1
GenBank Protein	O75936	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_003977 ⟸ NM_003986

- UniProtKB:

D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), O75936 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDVNIGI
KGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQRELFFPECQYWGSELQLPTLDFE
DVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQDKIDANNV
AYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTF
VDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDL
MNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVE
NGN

hide sequence

RefSeq Acc Id:	XP_011518704 ⟸ XM_011520402
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), O75936 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)
- Sequence:	show sequence MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCYLDSAKARKLLVEALDVNIGI KGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARAKLQRELFFPECQYWGSELQLPTLDFE DVLRYDEHAYKWLSTLKKVGIVRLTGASDKPGEVSKLGKRMGFLYLTFYGHTWQVQDKIDANNV AYTTGKLSFHTDYPALHHPPGVQLLHCIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTF VDFTDIGVDYCDFSVQSKHKIIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDL MNSKESKFTFKMNPGDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVE NGN hide sequence

RefSeq Acc Id:	NP_001363189 ⟸ NM_001376260
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001363187 ⟸ NM_001376258
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001363188 ⟸ NM_001376259
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001363190 ⟸ NM_001376261
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000435369 ⟸ ENST00000533566

RefSeq Acc Id:

ENSP00000433772 ⟸ ENST00000525090

RefSeq Acc Id:

ENSP00000263182 ⟸ ENST00000263182

RefSeq Acc Id:

ENSP00000434918 ⟸ ENST00000528583

RefSeq Acc Id:

ENSP00000435781 ⟸ ENST00000529202

RefSeq Acc Id:	XP_047283648 ⟸ XM_047427692
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047283649 ⟸ XM_047427693
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047283647 ⟸ XM_047427691
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054226135 ⟸ XM_054370160
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054226134 ⟸ XM_054370159
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054226136 ⟸ XM_054370161
- Peptide Label:	isoform X1
- UniProtKB:	O75936 (UniProtKB/Swiss-Prot), D3DQZ1 (UniProtKB/Swiss-Prot), B2R8L7 (UniProtKB/Swiss-Prot), Q6IBJ2 (UniProtKB/Swiss-Prot), A8K243 (UniProtKB/TrEMBL)

Protein Domains

Gamma-butyrobetaine hydroxylase-like N-terminal TauD/TfdA-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75936-F1-model_v2	AlphaFold	O75936	1-387	view protein structure

Promoters

RGD ID:

7219887

Promoter ID:

EPDNEW_H15689

Type:

initiation region

Name:

BBOX1_1

Description:

gamma-butyrobetaine hydroxylase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15690

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,041,401 - 27,041,461	EPDNEW

RGD ID:

7219889

Promoter ID:

EPDNEW_H15690

Type:

initiation region

Name:

BBOX1_2

Description:

gamma-butyrobetaine hydroxylase 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H15689

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	27,055,381 - 27,055,441	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:964	AgrOrtholog
COSMIC	BBOX1	COSMIC
Ensembl Genes	ENSG00000129151	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000263182	ENTREZGENE
	ENST00000263182.8	UniProtKB/Swiss-Prot
	ENST00000525090	ENTREZGENE
	ENST00000525090.1	UniProtKB/Swiss-Prot
	ENST00000528583.5	UniProtKB/Swiss-Prot
	ENST00000529202	ENTREZGENE
	ENST00000529202.5	UniProtKB/Swiss-Prot
	ENST00000533566.5	UniProtKB/TrEMBL
Gene3D-CATH	3.30.2020.30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.60.130.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000129151	GTEx
HGNC ID	HGNC:964	ENTREZGENE
Human Proteome Map	BBOX1	Human Proteome Map
InterPro	GBBH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GBBH-like_N	UniProtKB/TrEMBL
	GBBH-like_N_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GBH-like_N	UniProtKB/Swiss-Prot
	TauD-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TauD/TfdA-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8424	UniProtKB/Swiss-Prot
NCBI Gene	8424	ENTREZGENE
OMIM	603312	OMIM
PANTHER	GAMMA-BUTYROBETAINE DIOXYGENASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GAMMA-BUTYROBETAINE HYDROXYLASE-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DUF971	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TauD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25274	PharmGKB
Superfamily-SCOP	Clavaminate synthase-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K243	ENTREZGENE, UniProtKB/TrEMBL
	B2R8L7	ENTREZGENE
	BODG_HUMAN	UniProtKB/Swiss-Prot
	D3DQZ1	ENTREZGENE
	E9PKC9_HUMAN	UniProtKB/TrEMBL
	O75936	ENTREZGENE
	Q1KLS6_HUMAN	UniProtKB/TrEMBL
	Q1KLT3_HUMAN	UniProtKB/TrEMBL
	Q6IBJ2	ENTREZGENE
UniProt Secondary	B2R8L7	UniProtKB/Swiss-Prot
	D3DQZ1	UniProtKB/Swiss-Prot
	Q6IBJ2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-29	BBOX1	gamma-butyrobetaine hydroxylase 1	BBOX1	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar