Gene
wfs1a
- ID
- ZDB-GENE-080225-11
- Name
- Wolfram syndrome 1a (wolframin)
- Symbol
- wfs1a Nomenclature History
- Previous Names
-
- wfs1
- im:7153058 (1)
- si:dkey-228b21.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including neural retina development; otic vesicle development; and visual behavior. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including eye; heart; muscle; otic epithelium; and swim bladder. Human ortholog(s) of this gene implicated in Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153058 (5 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 6 | Alliance | Deafness, autosomal dominant 6/14/38 | 600965 |
| autosomal dominant Wolfram syndrome | Alliance | Wolfram-like syndrome, autosomal dominant | 614296 |
| cataract 41 | Alliance | ?Cataract 41 | 116400 |
| type 2 diabetes mellitus | Alliance | {Diabetes mellitus, noninsulin-dependent, association with} | 125853 |
| Wolfram syndrome 1 | Alliance | Wolfram syndrome 1 | 222300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR045400 | Wolframin, cysteine-rich domain |
| Domain | IPR045460 | Wolframin, EF-hand domain |
| Domain | IPR045461 | Wolframin, OB-fold domain |
| Family | IPR026208 | Wolframin |
| Family | IPR026209 | Wolframin family |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Repeat | IPR045458 | Wolframin, Sel1-like repeat |
Domain Details Per Protein
| Protein | Length | Tetratricopeptide-like helical domain superfamily | Wolframin | Wolframin, cysteine-rich domain | Wolframin, EF-hand domain | Wolframin family | Wolframin, OB-fold domain | Wolframin, Sel1-like repeat |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8N7TF70
|
1061 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance