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

    Gene ID: 7466, updated on 22-Sep-2016
    Official Symbol
    WFS1provided by HGNC
    Official Full Name
    wolframin ER transmembrane glycoproteinprovided 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
    Location:
    4p16.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC285484 Neighboring gene uncharacterized LOC107986257 Neighboring gene protein phosphatase 2 regulatory subunit Bgamma Neighboring gene uncharacterized LOC105374365

    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 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
     
    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 
    ER-associated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ER-associated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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 sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter 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 
    neurological 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 adenylate cyclase activity 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
     
    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 
    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 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, OTTHUMP00000217278, ENST00000503569, 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, OTTHUMP00000115499, ENST00000226760, OTTHUMT00000206863

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017008586.1XP_016864075.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

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