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
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
Bile acid and bile salt metabolism pathway
Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway
Synthesis of bile acids and bile salts pathway
Metabolism pathway
KEGG
Primary bile acid biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9H2F3
TrEMBL I3L2H6
UniProt Splice Variant
Entrez Gene 80270
UniGene Hs.722252
RefSeq NM_025193 XM_005255601 NM_001142777 NM_001142778
HUGO HGNC:18324
OMIM 607764
CCDS CCDS10698 CCDS45466
HPRD 09680
IMGT
EMBL AC135048 AF277719 AK057436 AK290950 AK292068 BC004929 CH471192
GenPept AAG37824 AAH04929 BAB71486 BAF83639 BAF84757 EAW52183
RNA Seq Atlas 80270