Gene
wfs1b
- ID
- ZDB-GENE-050809-19
- Name
- Wolfram syndrome 1b (wolframin)
- Symbol
- wfs1b Nomenclature History
- Previous Names
-
- im:7150991
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Involved in glucose homeostasis; pancreas regeneration; and type B pancreatic cell development. 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). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7150991 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Wolfram syndrome | wfs1bsa16422/sa16422 (AB) | standard conditions | Cairns et al., 2021 |
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:E7F921
|
895 | |||||||
|
UniProtKB:A0A8M9QKW2
|
714 |
Interactions and Pathways
No data available
Plasmids
No data available