Homo sapiens Gene: WFS1
Summary
InnateDB Gene IDBG-8903.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WFS1
Gene Name Wolfram syndrome 1 (wolframin)
Synonyms CTRCT41; WFRS; WFS; WFSL;
Species Homo sapiens
Ensembl Gene ENSG00000109501
Encoded Proteins
Wolfram syndrome 1 (wolframin)
Wolfram syndrome 1 (wolframin)
Wolfram syndrome 1 (wolframin)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:6269849-6303265
Strand Forward strand
Band p16.1
Transcripts
ENST00000226760 ENSP00000226760
ENST00000503569 ENSP00000423337
ENST00000506588
ENST00000507765
ENST00000506362 ENSP00000424103
ENST00000513395
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005516 calmodulin binding
GO:0031625 ubiquitin protein ligase binding
GO:0033613 activating transcription factor binding
GO:0048306 calcium-dependent protein binding
GO:0051117 ATPase binding
Biological Process
GO:0001822 kidney development
GO:0003091 renal water homeostasis
GO:0006983 ER overload response
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0022417 protein maturation by protein folding
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0031398 positive regulation of protein ubiquitination
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0034976 response to endoplasmic reticulum stress
GO:0042048 olfactory behavior
GO:0042593 glucose homeostasis
GO:0043069 negative regulation of programmed cell death
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0044267 cellular protein metabolic process
GO:0045862 positive regulation of proteolysis
GO:0045927 positive regulation of growth
GO:0050821 protein stabilization
GO:0050877 neurological system process
GO:0051247 positive regulation of protein metabolic process
GO:0051928 positive regulation of calcium ion transport
GO:0055074 calcium ion homeostasis
GO:0070845 polyubiquitinated misfolded protein transport
GO:1902236 negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:2000675 negative regulation of type B pancreatic cell apoptotic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030425 dendrite
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
IRE1alpha activates chaperones pathway
Unfolded Protein Response (UPR) pathway
XBP1(S) activates chaperone genes pathway
Metabolism of proteins pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 7466
UniGene Hs.518602 Hs.727283
RefSeq NM_001145853 NM_006005
HUGO HGNC:12762
OMIM 606201
CCDS CCDS3386
HPRD 05864
IMGT
EMBL
GenPept
RNA Seq Atlas 7466