HSD3B7 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HSD3B7 |
| Official Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Source:HGNC Symbol;Acc:HGNC:18324] |
| Ensembl ID | ENSG00000099377 |
| Bio databases IDs | |
| Aliases | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7, short chain dehydrogenase/reductase family 11E, member 3 |
| Synonyms | C(27)-3beta-HSD, C27-3beta-HSD, CBAS1, Cca2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7, hydroxy-δ-5-steroid dehydrogenase, 3 β- and steroid δ-isomerase 7, PFIC4, SDR11E3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSD3B7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase
- Male sterility protein
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- 3beta-hydroxy-delta5-steroid dehydrogenase
- enzyme
- protein binding
- short chain dehydrogenase
Pathways
Biological processes and signaling networks where the HSD3B7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- intrahepatic cholestasis
- growth failure
- congenital bile acid synthesis defect type 1
- early missed abortion
- progressive intrahepatic cholestasis
- congenital bile acid synthesis defect
regulates
- bile acid
- triacylglycerol
- cholesterol
- fatty acid
- bile salt
- 7alpha-hydroxycholesterol
role in cell
- proliferation
- apoptosis
- accumulation in
- growth
- chemotaxis by
- response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD3B7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bile acid biosynthetic process
- B cell chemotaxis
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- 3-beta-hydroxy-delta5-steroid dehydrogenase activity
- protein binding
- oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
- cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity