HSD17B12 Gene Summary [Human]
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | HSD17B12 |
| Official Name | hydroxysteroid 17-beta dehydrogenase 12 [Source:HGNC Symbol;Acc:HGNC:18646] |
| Ensembl ID | ENSG00000149084 |
| Bio databases IDs | |
| Aliases | hydroxysteroid 17-beta dehydrogenase 12, 3-ketoacyl-CoA reductase, short chain dehydrogenase/reductase family 12C, member 1 |
| Synonyms | 17 beta-HSD12, 17-Beta hydroxysteroid dehydrogenase 12, 17 β-HSD12, 17-β hydroxysteroid dehydrogenase 12, 2610510O05Rik, DHB12, hydroxysteroid (17-beta) dehydrogenase 12, hydroxysteroid 17-beta dehydrogenase 12, hydroxysteroid (17-β) dehydrogenase 12, hydroxysteroid 17-β dehydrogenase 12, KAR, Kik1, KIK-I, LOC84013, SDR12C1 |
| 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 HSD17B12 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
- sepiapterin reductase
- CH-OH group:NAD or NADP oxidoreductase
- collagen binding
- enzyme
- protein binding
- short chain dehydrogenase
- fibronectin binding
- heparin binding
Pathways
Biological processes and signaling networks where the HSD17B12 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
- non-insulin-dependent diabetes mellitus
- hypertension
- metabolic syndrome X
- idiopathic scoliosis
- coronary artery disease
- developmental disorder
- cardiovascular disorder
- neuroblastoma
- neuroblastoma formation
- hyperopia
role in cell
- expression in
- phosphorylation in
- proliferation
- migration
- organization
- lipotoxicity in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- endoplasmic reticulum mitochondria contact site
- cellular membrane
- Nucleus
- Mitochondria
- endoplasmic reticulum membrane
- nuclear envelope
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD17B12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- estrogen biosynthetic process
- extracellular matrix organization
- long-chain fatty-acyl-CoA biosynthetic process
- positive regulation of cell-substrate adhesion
- fatty acid elongation, saturated fatty acid
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
- extracellular matrix
- fatty acid elongase complex
Molecular Function
What the gene product does at the molecular level
- estradiol 17-beta-dehydrogenase activity
- protein binding
- collagen binding
- oxidoreductase activity
- fibronectin binding
- heparin binding