Homo sapiens Protein: HSD3B7 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-27471.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | HSD3B7 | ||||||||||||||||||
Protein Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000262520 | ||||||||||||||||||
InnateDB Gene | IDBG-27469 (HSD3B7) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis. | ||||||||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane; Multi-pass membrane protein. | ||||||||||||||||||
Disease Associations | Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, chirrosis. {ECO:0000269PubMed:11067870, ECO:0000269PubMed:12679481}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001509
NAD-dependent epimerase/dehydratase, N-terminal domain IPR002198 Short-chain dehydrogenase/reductase SDR IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase IPR003869 Polysaccharide biosynthesis protein, CapD-like domain IPR005913 dTDP-4-dehydrorhamnose reductase IPR008030 NmrA-like domain IPR013120 Male sterility, NAD-binding IPR013968 Polyketide synthase, KR |
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PFAM |
PF01370
PF00106 PF01073 PF02719 PF04321 PF05368 PF07993 PF08659 |
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PRINTS |
PR00080
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PIRSF |
PIRSF000126
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SMART | |||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9H2F3 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9H2F3 | ||||||||||||||||||
TrEMBL | I3L2H6 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 80270 | ||||||||||||||||||
UniGene | Hs.722252 | ||||||||||||||||||
RefSeq | NP_001136250 | ||||||||||||||||||
HUGO | HGNC:18324 | ||||||||||||||||||
OMIM | 607764 | ||||||||||||||||||
CCDS | CCDS45466 | ||||||||||||||||||
HPRD | 09680 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC135048 AF277719 AK057436 AK290950 AK292068 BC004929 CH471192 | ||||||||||||||||||
GenPept | AAG37824 AAH04929 BAB71486 BAF83639 BAF84757 EAW52183 | ||||||||||||||||||