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WFS1 Wolfram syndrome 1 (wolframin) [ Homo sapiens (human) ]

Gene ID: 7466, updated on 13-Jan-2015
Official Symbol
WFS1provided by HGNC
Official Full Name
Wolfram syndrome 1 (wolframin)provided by HGNC
Primary source
HGNC:HGNC:12762
See related
Ensembl:ENSG00000109501; HPRD:05864; MIM:606201; Vega:OTTHUMG00000090431
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WFS; WFRS; WFSL; CTRCT41
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]
Orthologs
See WFS1 in MapViewer
Location:
4p16.1
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (6269850..6303265)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6271577..6304992)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene janus kinase and microtubule interacting protein 1 Neighboring gene uncharacterized LOC285484 Neighboring gene protein phosphatase 2, regulatory subunit B, gamma Neighboring gene mannosidase, alpha, class 2B, member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-02-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-02-08)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
NHGRI GWA Catalog
  • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
    IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
    Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
  • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
    XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ51211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin protein ligase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
ER overload response IC
Inferred by Curator
more info
PubMed 
ER overload response TAS
Traceable Author Statement
more info
PubMed 
ER-associated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of signaling protein activity involved in unfolded protein response TAS
Traceable Author Statement
more info
 
calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
endoplasmic reticulum calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum unfolded protein response ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of programmed cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sequence-specific DNA binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of type B pancreatic cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurological system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
polyubiquitinated misfolded protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of growth ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein maturation by protein folding IC
Inferred by Curator
more info
PubMed 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
renal water homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011700.1 

    Range
    5001..38416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145853.1NP_001139325.1  wolframin

    See proteins identical to NP_001139325.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, resulting in a slightly shorter transcript, as compared to variant 1.
    Source sequence(s)
    AF084481, BC030130, Y18064
    Consensus CDS
    CCDS3386.1
    UniProtKB/Swiss-Prot
    O76024
    Related
    ENSP00000423337, OTTHUMP00000217278, ENST00000503569, OTTHUMT00000358733
  2. NM_006005.3NP_005996.2  wolframin

    See proteins identical to NP_005996.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF084481, BC069213, Y18064
    Consensus CDS
    CCDS3386.1
    UniProtKB/Swiss-Prot
    O76024
    Related
    ENSP00000226760, OTTHUMP00000115499, ENST00000226760, OTTHUMT00000206863

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    6269850..6303265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    6269525..6302942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    6205316..6238436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)