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

    Gene ID: 7466, updated on 12-Jun-2024

    Summary

    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; AllianceGenome:HGNC:12762
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WFS1 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6269850..6303265)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6243866..6277297)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (6271577..6304992)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128125818 Neighboring gene janus kinase and microtubule interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6071730-6072660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6073591-6074520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6087461-6088334 Neighboring gene NANOG hESC enhancer GRCh37_chr4:6089664-6090166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6093535-6094036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6107415-6107947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6118271-6118786 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:6118787-6119302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6119819-6120334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6142439-6142940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6192917-6193537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21258 Neighboring gene JAKMIP1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6247680-6248310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6264593-6265371 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6266160-6267359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6274585-6275134 Neighboring gene VISTA enhancer hs1979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6333689-6334190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6340800-6341378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6341379-6341956 Neighboring gene protein phosphatase 2 regulatory subunit Bgamma Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:6368797-6369537 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:6369538-6370278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6371026-6371745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6378434-6379114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6390823-6391322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6392177-6392889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6395469-6396022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6394915-6395468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6445131-6445630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6464699-6465244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6465245-6465790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6471820-6472650 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6528063-6528950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6528951-6529838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6529839-6530726 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:6530727-6531613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6551456-6551956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6551957-6552457 Neighboring gene uncharacterized LOC105374365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6575112-6575880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6575881-6576648

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    EBI GWAS Catalog

    Description
    Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ51211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables proteasome binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ER overload response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in ER overload response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ERAD pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERAD pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endoplasmic reticulum calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ATF6-mediated unfolded protein response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type B pancreatic cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in olfactory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERAD pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein maturation by protein folding IC
    Inferred by Curator
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in renal water homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    wolframin
    Names
    Wolfram syndrome 1 (wolframin)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_1417

    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
      B2R797, D3DVT1, O76024, Q8N6I3, Q9UNW6
      UniProtKB/TrEMBL
      A0A0S2Z4V6, A0A669KAX3
      Related
      ENSP00000423337.1, ENST00000503569.5
    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
      B2R797, D3DVT1, O76024, Q8N6I3, Q9UNW6
      UniProtKB/TrEMBL
      A0A0S2Z4V6, A0A669KAX3
      Related
      ENSP00000226760.1, ENST00000226760.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      6243866..6277297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)