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

Gene ID: 7466, updated on 17-Jan-2022

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
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
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Genomic context

See WFS1 in Genome Data Viewer
Location:
4p16.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (6260368..6303265)
105.20201022 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 JAKMIP1 divergent transcript Neighboring gene VISTA enhancer hs1979 Neighboring gene uncharacterized LOC107986257 Neighboring gene protein phosphatase 2 regulatory subunit Bgamma Neighboring gene uncharacterized LOC105374365

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

Homology

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 calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 DNA-binding transcription factor activity 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 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 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 ubiquitin-dependent ERAD pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
is_active_in integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in secretory granule IDA
Inferred from Direct Assay
more info
PubMed 

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
    O76024
    UniProtKB/TrEMBL
    A0A0S2Z4V6
    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
    O76024
    UniProtKB/TrEMBL
    A0A0S2Z4V6
    Related
    ENSP00000226760.1, ENST00000226760.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 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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