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WFS1 wolframin ER transmembrane glycoprotein [ Homo sapiens (human) ]

Gene ID: 7466, updated on 8-Jul-2018
Official Symbol
WFS1provided by HGNC
Official Full Name
wolframin ER transmembrane glycoproteinprovided by HGNC
Primary source
HGNC:HGNC:12762
See related
Ensembl:ENSG00000109501 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]
Expression
Ubiquitous expression in ovary (RPKM 44.4), fat (RPKM 34.2) and 24 other tissues See more
Orthologs
See WFS1 in Genome Data Viewer
Location:
4p16.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (6260368..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 LOC105374364 Neighboring gene long intergenic non-protein coding RNA 2495 Neighboring gene VISTA enhancer hs1979 Neighboring gene uncharacterized LOC107986257 Neighboring gene protein phosphatase 2 regulatory subunit Bgamma Neighboring gene uncharacterized LOC105374365

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cataract 41
MedGen: C1861826 OMIM: 116400 GeneReviews: Not available
Compare labs
Diabetes mellitus AND insipidus with optic atrophy AND deafness
MedGen: C0043207 OMIM: 222300 GeneReviews: WFS1-Related Disorders
Compare labs
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
not available
WFS1-Related Disorders Compare labs
Wolfram-like syndrome, autosomal dominant
MedGen: C3280358 OMIM: 614296 GeneReviews: Not available
Compare labs

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 IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ER overload response IC
Inferred by Curator
more info
PubMed 
ER overload response TAS
Traceable Author Statement
more info
PubMed 
IRE1-mediated 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 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ATF6-mediated unfolded protein response IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
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 transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of type B pancreatic cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
pancreas development IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein maturation by protein folding IC
Inferred by Curator
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein stabilization TAS
Traceable Author Statement
more info
PubMed 
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 
ubiquitin-dependent ERAD pathway IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent ERAD pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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 lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
wolframin
Names
Wolfram syndrome 1 (wolframin)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001145853.1NP_001139325.1  wolframin

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A0S2Z4V6
    Related
    ENSP00000423337.1, OTTHUMP00000217278, ENST00000503569.5, OTTHUMT00000358733
  2. NM_006005.3NP_005996.2  wolframin

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A0S2Z4V6
    Related
    ENSP00000226760.1, OTTHUMP00000115499, ENST00000226760.5, OTTHUMT00000206863

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    6260368..6303265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008586.1XP_016864075.1  wolframin isoform X1

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