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
- Predicted to be involved in calcium ion homeostasis and endoplasmic reticulum unfolded protein response. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Is expressed in myotome. 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