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 have 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 localize to 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With srd5a3 Human Ortholog
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
Associated With srd5a3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001104 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
Family IPR039698 Polyprenol reductase
Domain Details Per Protein
Protein Length 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal Polyprenol reductase
UniProtKB:Q5RIU9 309
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations