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
Expression
All Expression Data
11 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With wfs1a Human Ortholog
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
Associated With wfs1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations