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 |
|
||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway
Synthesis of bile acids and bile salts pathway
Metabolism of lipids and lipoproteins pathway
Bile acid and bile salt metabolism pathway
Metabolism pathway
|
||||||||||||||||||
KEGG |
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 | |||||||||||||||||||