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Gene: HMBS (hydroxymethylbilane synthase) Chlorocebus sabaeus

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Symbol:

HMBS

Name:

hydroxymethylbilane synthase

RGD ID:

18437284

Description:

ENCODES a protein that exhibits amine binding (ortholog); carboxylic acid binding (ortholog); hydroxymethylbilane synthase activity (ortholog); INVOLVED IN animal organ regeneration (ortholog); astrocyte differentiation (ortholog); cellular response to amine stimulus (ortholog); PARTICIPATES IN acute intermittent porphyria pathway; erythropoietic porphyria pathway; heme biosynthetic pathway; ASSOCIATED WITH Abdominal Pain (ortholog); acute intermittent porphyria (ortholog); Acute Intermittent Porphyria, Nonerythroid Variant (ortholog); FOUND IN axon (ortholog); condensed chromosome (ortholog); cytosol (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

porphobilinogen deaminase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	110,457,799 - 110,466,361 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Abdominal Pain (ISO)

acute intermittent porphyria (ISO)

Acute Intermittent Porphyria, Nonerythroid Variant (ISO)

acute porphyria (ISO)

anxiety disorder (ISO)

bilirubin metabolic disorder (ISO)

CD3epsilon deficiency (ISO)

chromosome 11 partial duplication syndrome (ISO)

congenital disorder of glycosylation (ISO)

congenital disorder of glycosylation Ij (ISO)

congenital myasthenic syndrome 13 (ISO)

Dwarfism (ISO)

ENCEPHALOPATHY, PORPHYRIA-RELATED (ISO)

Experimental Diabetes Mellitus (ISO)

Familial Atrial Fibrillation 14 (ISO)

genetic disease (ISO)

glycogen storage disease Ib (ISO)

Hepatic Porphyrias (ISO)

Hypercholesterolemia (ISO)

immunodeficiency 17 (ISO)

immunodeficiency 18 (ISO)

immunodeficiency 19 (ISO)

inflammatory bowel disease 28 (ISO)

isolated microphthalmia 5 (ISO)

LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (ISO)

liver carcinoma (ISO)

Liver Metastasis (ISO)

long QT syndrome 10 (ISO)

obstructive jaundice (ISO)

prostate carcinoma (ISO)

RASopathy (ISO)

schizophrenia (ISO)

seminoma (ISO)

sickle cell anemia (ISO)

urinary bladder cancer (ISO)

Vomiting (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ regeneration (ISO)

astrocyte differentiation (ISO)

cellular response to amine stimulus (ISO)

cellular response to antibiotic (ISO)

cellular response to arsenic-containing substance (ISO)

cellular response to cytokine stimulus (ISO)

cellular response to dexamethasone stimulus (ISO)

cellular response to lead ion (ISO)

heme A biosynthetic process (IEA)

heme B biosynthetic process (IEA)

heme biosynthetic process (IEA)

heme O biosynthetic process (IEA)

liver development (ISO)

porphyrin-containing compound biosynthetic process (IEA,ISO)

porphyrin-containing compound metabolic process (ISO)

protoporphyrinogen IX biosynthetic process (IEA)

response to amino acid (ISO)

response to carbohydrate (ISO)

response to cobalt ion (ISO)

response to estradiol (ISO)

response to hormone (ISO)

response to hypoxia (ISO)

response to lead ion (ISO)

response to metal ion (ISO)

response to methylmercury (ISO)

response to nutrient levels (ISO)

response to vitamin (ISO)

response to xenobiotic stimulus (ISO)

response to zinc ion (ISO)

tetrapyrrole biosynthetic process (IEA,ISO)

Cellular Component

axon (ISO)

condensed chromosome (ISO)

cytoplasm (IEA)

cytosol (IEA,ISO)

perinuclear region of cytoplasm (ISO)

Molecular Function

amine binding (ISO)

carboxylic acid binding (ISO)

hydroxymethylbilane synthase activity (IEA,ISO)

protein binding (ISO)

transferase activity (IEA)

uroporphyrinogen-III synthase activity (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

acute intermittent porphyria pathway (ISO)

erythropoietic porphyria pathway (ISO)

heme biosynthetic pathway (ISO)

hereditary coproporphyria pathway (ISO)

porphyrin metabolic pathway (ISO)

variegate porphyria pathway (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

HMBS
(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	110,457,799 - 110,466,361 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

HMBS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	119,084,881 - 119,093,549 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	119,084,866 - 119,093,834 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	118,955,591 - 118,964,259 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	118,460,797 - 118,469,469 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	118,460,802 - 118,469,467	NCBI
Celera	11	116,113,008 - 116,121,673 (+)	NCBI		Celera
Cytogenetic Map	11	q23.3	NCBI
HuRef	11	114,895,043 - 114,903,707 (+)	NCBI		HuRef
CHM1_1	11	118,841,878 - 118,850,561 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	119,105,272 - 119,113,932 (+)	NCBI		T2T-CHM13v2.0

Hmbs
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	44,247,645 - 44,255,525 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	44,247,636 - 44,255,525 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	44,336,348 - 44,344,228 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	44,336,339 - 44,344,228 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	44,144,431 - 44,152,311 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	44,087,343 - 44,095,170 (-)	NCBI		MGSCv36	mm8
Celera	9	41,591,069 - 41,599,175 (-)	NCBI		Celera
Cytogenetic Map	9	A5.2	NCBI
cM Map	9	24.84	NCBI

Hmbs
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	53,570,364 - 53,577,758 (-)	NCBI		GRCr8
mRatBN7.2	8	44,673,554 - 44,680,950 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	44,673,554 - 44,680,957 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	50,169,431 - 50,176,911 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	48,448,147 - 48,455,627 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	46,318,525 - 46,325,957 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	48,667,278 - 48,674,673 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	48,667,275 - 48,674,748 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	47,286,249 - 47,293,618 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	47,314,235 - 47,321,604 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	47,323,010 - 47,328,455 (-)	NCBI
Celera	8	44,259,787 - 44,267,156 (-)	NCBI		Celera
RH 3.4 Map	8	428.0	RGD
Cytogenetic Map	8	q22	NCBI

Hmbs
(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_004955412	20,192,522 - 20,202,635 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955412	20,192,519 - 20,202,635 (+)	NCBI	ChiLan1.0	ChiLan1.0

HMBS
(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	119,789,723 - 119,798,327 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	120,893,421 - 120,902,024 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	113,923,004 - 113,931,732 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	117,852,295 - 117,860,757 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	117,852,295 - 117,860,757 (+)	Ensembl	panpan1.1		panPan2

HMBS
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	14,767,306 - 14,775,205 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	14,767,666 - 14,775,082 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	14,820,660 - 14,828,175 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	14,710,999 - 14,718,527 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	14,710,641 - 14,718,554 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	14,849,036 - 14,856,511 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	14,753,058 - 14,760,536 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	14,793,431 - 14,800,910 (-)	NCBI		UU_Cfam_GSD_1.0

Hmbs
(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	101,116,546 - 101,124,682 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936542	4,037,201 - 4,050,810 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936542	4,037,888 - 4,046,089 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HMBS
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	46,300,050 - 46,308,868 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	46,300,039 - 46,308,681 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	51,335,231 - 51,343,641 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Hmbs
(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_004624784	14,467,533 - 14,474,954 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624784	14,467,515 - 14,474,954 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HMBS
146 total Variants

Expression

RNA-SEQ Expression

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

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
76	36	20	36	36	60	20

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_008021151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_008021155	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MT742560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000000553 ⟹ ENSCSAP00000015508

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	1	110,457,537 - 110,466,095 (+)	Ensembl

RefSeq Acc Id:

XM_008021151 ⟹ XP_008019342

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	1	110,457,799 - 110,466,361 (+)	NCBI
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,219 (-)	NCBI

Sequence:

show sequence

GGGATGTAGCAAAGCTAAGTTTGAACAAAGCAAAGGAAGTGCCATAGAAGCTGCACTACTTGCT
CATGCCACAGCTGGGGAATGGAGAGGTCGAATGAGGAGGTCCACTCTGTCGCAATGTTCCAATT
CCCGCCCAGAGGGAGGGACCTCCCCTTCGAGGGAGGGCGCCGGAAGTGACGTGAGCCCTGCGGA
GACCAGGAGTCAGACTGTAGGACAAGCTCGGGCCCCACGTGTCCCCGGTACTCGCCGGCCGGAG
CCCCCGGCTTCCCGGGGCTGGGGGACCTTAGCGGCACCCAAACACAGCCTACTTCCTAAGCGGA
GCCATGTCTGGTAACGGCAATGCGGCTGCAACGGCGGAAGAAAACAGCCCAAAGATGAGAGTGA
TTCGCGTGGGTACCCGCAAGAGCCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAACACT
GAAAGCCTTGTACCCTGGCCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGGGACAAGATT
CTTGATACTGCACTCTCTAAGATTGGAGAGAAGAGCCTGTTTACCAAGGAGCTTGAACATGCCC
TGGAGAAGAATGAAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACAGTGCTTCCTCC
TGGCTTCACCATCGGAGCCATCTGCAAGCGGGAAAACCCCCATGATGCTGTTGTCTTTCACCCA
AAATTTGTTGGGAAGACCCTAGAAACCTTGCCAGAGAAGAGTGTGGTGGGAACCAGCTCCCTGC
GGAGAGCGGCCCAGCTGCAGAGAAAGTTCTCACATCTGGAGTTCAGGAGTATTCGGGGAAACCT
CAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCT
GGCCTGCAGCGCATGGGCTGGCATAACCGGGTGGGGCAGATCCTGCACCCTGAGGAATGCATGT
ATGCTGTGGGCCAGGGGGCCTTGGGCGTGGAAGTCCGAGCCAAGGACCAGGACATCTTGGATCT
GGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGG
CACCTGGAAGGAGGCTGCAGCGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGT
ACCTGACTGGAGGAGTCTGGAGTCTAGATGGCTCAGATAGCATACAAGACACCATGCAGGCTAC
CATCCATGTCCCTGCCCAGCATGAAGATGGCCCTGAGGATGACCCACAGCTGGTAGGCATCACT
GCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACT
TGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTA
ACTGGTCTGTGGGGCACAGATGCCTCGGTTGCTGCTGTCCAGTGCCTACATCCCGGCCCTCAGT
GCCCCATTCTCACTGCTGTCTGGGGAGTGATTACCTCAGAAGACTGAACTGCAGGGTTCAAGCC
TTCCGGGGATTTGCCTCAGTTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCT
TCATCTCTTTAGAGAAGTCCAAGCCACAGCCTTTGAATGTAACCAACTCTACTAATAAACCAGC
TCTGAAGGTGT

hide sequence

RefSeq Acc Id:

XM_008021152 ⟹ XP_008019343

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	1	110,458,163 - 110,466,361 (+)	NCBI
Vero_WHO_p1.0	NW_023666043	15,567,851 - 15,576,221 (-)	NCBI

Sequence:

show sequence

TGAGCCGGTGACCAGCACACTTTGGGCTTCTGGACGAGCCGTGCAGCAATTGGCCCCAGGTTGC
CATCCTCAGTCGCTATTGGAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCA
AGAGCCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCAACACTGAAAGCCTTGTACCCTGG
CCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGGGACAAGATTCTTGATACTGCACTCTCT
AAGATTGGAGAGAAGAGCCTGTTTACCAAGGAGCTTGAACATGCCCTGGAGAAGAATGAAGTGG
ACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACAGTGCTTCCTCCTGGCTTCACCATCGGAGC
CATCTGCAAGCGGGAAAACCCCCATGATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACC
CTAGAAACCTTGCCAGAGAAGAGTGTGGTGGGAACCAGCTCCCTGCGGAGAGCGGCCCAGCTGC
AGAGAAAGTTCTCACATCTGGAGTTCAGGAGTATTCGGGGAAACCTCAACACCCGGCTTCGGAA
GCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGC
TGGCATAACCGGGTGGGGCAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGGGG
CCTTGGGCGTGGAAGTCCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGA
TCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGAAGGAGGCTGC
AGCGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGTACCTGACTGGAGGAGTCT
GGAGTCTAGATGGCTCAGATAGCATACAAGACACCATGCAGGCTACCATCCATGTCCCTGCCCA
GCATGAAGATGGCCCTGAGGATGACCCACAGCTGGTAGGCATCACTGCTCGTAACATTCCACGA
GGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAG
CCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTCTGTGGGGCACA
GATGCCTCGGTTGCTGCTGTCCAGTGCCTACATCCCGGCCCTCAGTGCCCCATTCTCACTGCTG
TCTGGGGAGTGATTACCTCAGAAGACTGAACTGCAGGGTTCAAGCCTTCCGGGGATTTGCCTCA
GTTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGT
CCAAGCCACAGCCTTTGAATGTAACCAACTCTACTAATAAACCAGCTCTGAAGGTGT

hide sequence

Protein Sequences


Protein RefSeqs	XP_008019342	(Get FASTA)	NCBI Sequence Viewer
	XP_008019343	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000015508
	ENSCSAP00000015508.1
GenBank Protein	QOY25023	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_008019342 ⟸ XM_008021151
- Peptide Label:	isoform X2
- UniProtKB:	A0A0D9S3R9 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_008019343 ⟸ XM_008021152
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSCSAP00000015508 ⟸ ENSCSAT00000000553

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000002535	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000000553.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.160.40	UniProtKB/TrEMBL
	Periplasmic binding protein-like II	UniProtKB/TrEMBL
InterPro	HemC	UniProtKB/TrEMBL
	Porphobilin_deaminase_cofac_BS	UniProtKB/TrEMBL
	Porphobilin_deaminase_N	UniProtKB/TrEMBL
	Porphobilinogen_deaminase_C	UniProtKB/TrEMBL
	Porphobilinogen_deaminase_C_sf	UniProtKB/TrEMBL
KEGG Report	csab:103248618	UniProtKB/TrEMBL
NCBI Gene	HMBS	ENTREZGENE
PANTHER	PORPHOBILINOGEN DEAMINASE	UniProtKB/TrEMBL
	PTHR11557	UniProtKB/TrEMBL
Pfam	Porphobil_deam	UniProtKB/TrEMBL
	Porphobil_deamC	UniProtKB/TrEMBL
PIRSF	4pyrrol_synth_OHMeBilane_synth	UniProtKB/TrEMBL
PRINTS	PORPHBDMNASE	UniProtKB/TrEMBL
PROSITE	PORPHOBILINOGEN_DEAM	UniProtKB/TrEMBL
Superfamily-SCOP	Periplasmic binding protein-like II	UniProtKB/TrEMBL
	SSF54782	UniProtKB/TrEMBL
UniProt	A0A0D9S3R9	ENTREZGENE, UniProtKB/TrEMBL
	A0A872YPU0_CHLSB	UniProtKB/TrEMBL

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 - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

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Imported Annotations - SMPDB