Gene
srd5a3
- ID
- ZDB-GENE-030131-7915
- Name
- steroid 5 alpha-reductase 3
- Symbol
- srd5a3 Nomenclature History
- Previous Names
-
- srd5a2l (1)
- fj40g12
- si:ch211-278f21.3
- wu:fj40g12
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable 3-oxo-5-alpha-steroid 4-dehydrogenase activity and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. Predicted to be involved in dolichol biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; and polyprenol catabolic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Kahrizi syndrome and congenital disorder of glycosylation Iq. Orthologous to human SRD5A3 (steroid 5 alpha-reductase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6893558 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital disorder of glycosylation Iq | Alliance | Congenital disorder of glycosylation, type Iq | 612379 |
| Kahrizi syndrome | Alliance | Kahrizi syndrome | 612713 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal | Polyprenal reductase |
|---|---|---|---|
|
UniProtKB:Q5RIU9
|
309 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
srd5a3-201
(1)
|
Ensembl | 1,015 nt |
Interactions and Pathways
No data available
Plasmids
No data available