InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HSD3B7

Summary

InnateDB Gene

IDBG-27469.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSD3B7

Gene Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000099377

Encoded Proteins

IDBP-27471

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

IDBP-27473

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

IDBP-746555

IDBP-753692

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:30985207-30989152

Strand

Forward strand

Band

p11.2

Transcripts

ENST00000262520	ENSP00000262520
ENST00000297679	ENSP00000297679
ENST00000574447	ENSP00000459689
ENST00000562932	ENSP00000459852

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity
GO:0050662	coenzyme binding

Biological Process

GO:0006694	steroid biosynthetic process
GO:0006699	bile acid biosynthetic process
GO:0008152	metabolic process
GO:0008206	bile acid metabolic process
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005575	cellular_component
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000042289

View Gene Order

ENSBTAG00000002346

Not yet available

Pathways

NETPATH

REACTOME

REACT_11053

Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway

REACT_11041

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway

REACT_11048

Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway

REACT_11054

Synthesis of bile acids and bile salts pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_11040

Bile acid and bile salt metabolism pathway

REACT_111217

Metabolism pathway

KEGG

hsa00120

Primary bile acid biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.722252

RefSeq

NM_001142777 NM_001142778 NM_025193 XM_005255601

HUGO

OMIM

CCDS

CCDS10698 CCDS45466

HPRD

09680

IMGT

EMBL

GenPept

RNA Seq Atlas