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

Gene ID: 7466, updated on 18-Jan-2025

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
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Genomic context

See WFS1 in Genome Data Viewer
Location:
4p16.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (6269850..6303265)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (6243866..6277297)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Clone Names

  • FLJ51211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding PubMed 
enables DNA-binding transcription factor binding  
enables calcium-dependent protein binding  
enables calmodulin binding  
enables proteasome binding  
enables protein binding PubMed 
enables ubiquitin protein ligase binding PubMed 
Items 1 - 25 of 37
Process Evidence Code Pubs
involved_in ER overload response PubMed 
involved_in ER overload response PubMed 
involved_in ERAD pathway PubMed 
involved_in ERAD pathway  
involved_in calcium ion homeostasis  
involved_in calcium ion homeostasis PubMed 
involved_in endoplasmic reticulum calcium ion homeostasis PubMed 
involved_in endoplasmic reticulum unfolded protein response  
involved_in glucose homeostasis PubMed 
involved_in kidney development PubMed 
involved_in negative regulation of ATF6-mediated unfolded protein response PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  
involved_in negative regulation of neuron apoptotic process PubMed 
involved_in negative regulation of programmed cell death PubMed 
involved_in negative regulation of response to endoplasmic reticulum stress PubMed 
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in negative regulation of translation  
involved_in negative regulation of type B pancreatic cell apoptotic process PubMed 
involved_in nervous system process PubMed 
involved_in olfactory behavior  
involved_in pancreas development  
involved_in positive regulation of ERAD pathway  
involved_in positive regulation of calcium ion transport PubMed 
involved_in positive regulation of growth  
involved_in positive regulation of protein metabolic process PubMed 
involved_in positive regulation of protein ubiquitination PubMed 
involved_in positive regulation of protein ubiquitination  
involved_in protein maturation by protein folding PubMed 
involved_in protein stabilization PubMed 
involved_in protein stabilization PubMed 
involved_in protein stabilization  
involved_in protein stabilization PubMed 
involved_in renal water homeostasis PubMed 
involved_in response to endoplasmic reticulum stress PubMed 
involved_in sensory perception of sound PubMed 
involved_in visual perception PubMed 
Items 1 - 25 of 37
Component Evidence Code Pubs
located_in dendrite PubMed 
located_in endoplasmic reticulum PubMed 
located_in endoplasmic reticulum  
located_in endoplasmic reticulum lumen  
is_active_in endoplasmic reticulum membrane  
located_in endoplasmic reticulum membrane PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in endoplasmic reticulum membrane  
located_in secretory granule PubMed 
located_in synaptic vesicle membrane  

General protein information

Preferred Names
wolframin
Names
Wolfram syndrome 1 (wolframin)

NCBI Reference Sequences (RefSeq)

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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_2024_08

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)
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