HSD17B7 Gene Summary [Human]
HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
Details
| Type | Processed Transcript |
| Official Symbol | HSD17B7 |
| Official Name | hydroxysteroid 17-beta dehydrogenase 7 [Source:HGNC Symbol;Acc:HGNC:5215] |
| Ensembl ID | ENSG00000132196 |
| Bio databases IDs | |
| Aliases | hydroxysteroid 17-beta dehydrogenase 7, short chain dehydrogenase/reductase family 37C, member 1 |
| Synonyms | 17-beta-HSD 7, 17Hsd/ksr7, 17-β-HSD 7, ERG27, hydroxysteroid (17-beta) dehydrogenase 7, hydroxysteroid 17-beta dehydrogenase 7, hydroxysteroid (17-β) dehydrogenase 7, hydroxysteroid 17-β dehydrogenase 7, PRAP, SDR37C1 |
| 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 HSD17B7 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
- 3-keto sterol reductase
- 3beta(or 20alpha)-hydroxysteroid dehydrogenase
- estradiol 17beta-dehydrogenase
- prolactin receptor binding
- 3-keto-steroid reductase
- enzyme
- short chain dehydrogenase
Pathways
Biological processes and signaling networks where the HSD17B7 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
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- experimental autoimmune encephalomyelitis
- pericardial effusion
- hypoplasia
- estrogen receptor positive breast cancer
- endometriosis
regulates
- cholesterol
- lipid
- beta-estradiol
- estrone
- zymosterol
- zymosterone
- estrogen
- androgen
role in cell
- number
- apoptosis
- differentiation
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
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD17B7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- estrogen biosynthetic process
- androgen metabolic process
- cholesterol biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- 3-keto sterol reductase activity
- estradiol 17-beta-dehydrogenase activity
- 5alpha-androstane-3beta,17beta-diol dehydrogenase activity