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Aliases for WFS1 Gene

Aliases for WFS1 Gene

  • Wolframin ER Transmembrane Glycoprotein 2 3
  • Wolfram Syndrome 1 (Wolframin) 2 3 5
  • CTRCT41 3
  • WFRS 3
  • WFSL 3
  • WFS 3

External Ids for WFS1 Gene

Previous HGNC Symbols for WFS1 Gene

  • DFNA6
  • DFNA14
  • DFNA38

Previous GeneCards Identifiers for WFS1 Gene

  • GC04P006167
  • GC04P006366
  • GC04P006264
  • GC04P006336
  • GC04P006389

Summaries for WFS1 Gene

Entrez Gene Summary for WFS1 Gene

  • 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]

GeneCards Summary for WFS1 Gene

WFS1 (Wolframin ER Transmembrane Glycoprotein) is a Protein Coding gene. Diseases associated with WFS1 include wolfram syndrome and cataract 41. Among its related pathways are Transport to the Golgi and subsequent modification and Unfolded Protein Response (UPR). GO annotations related to this gene include transporter activity and calmodulin binding.

UniProtKB/Swiss-Prot for WFS1 Gene

  • Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.

Gene Wiki entry for WFS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WFS1 Gene

Genomics for WFS1 Gene

Regulatory Elements for WFS1 Gene

Promoters for WFS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WFS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WFS1 Gene

Chromosome:
4
Start:
6,269,849 bp from pter
End:
6,303,265 bp from pter
Size:
33,417 bases
Orientation:
Plus strand

Genomic View for WFS1 Gene

Genes around WFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WFS1 Gene

Proteins for WFS1 Gene

  • Protein details for WFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76024-WFS1_HUMAN
    Recommended name:
    Wolframin
    Protein Accession:
    O76024
    Secondary Accessions:
    • B2R797
    • D3DVT1
    • Q8N6I3
    • Q9UNW6

    Protein attributes for WFS1 Gene

    Size:
    890 amino acids
    Molecular mass:
    100292 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WFS1 Gene

Proteomics data for WFS1 Gene at MOPED

Post-translational modifications for WFS1 Gene

  • Glycosylation at Asn 661 and Asn 746
  • Modification sites at PhosphoSitePlus

Other Protein References for WFS1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for WFS1 (WFS1)

No data available for DME Specific Peptides for WFS1 Gene

Domains & Families for WFS1 Gene

Protein Domains for WFS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WFS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WFS1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for WFS1 Gene

Function for WFS1 Gene

Molecular function for WFS1 Gene

GENATLAS Biochemistry:
putative transmembrane protein,100.3kDa,highly expressed in pancreatic islets,with loss of function by mutations in Wolfram syndrome
UniProtKB/Swiss-Prot Function:
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.

Gene Ontology (GO) - Molecular Function for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
GO:0033613 activating transcription factor binding IEA --
genes like me logo Genes that share ontologies with WFS1: view
genes like me logo Genes that share phenotypes with WFS1: view

Human Phenotype Ontology for WFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WFS1 Gene

MGI Knock Outs for WFS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for WFS1

miRNA for WFS1 Gene

miRTarBase miRNAs that target WFS1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WFS1 Gene

Localization for WFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WFS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WFS1 Gene COMPARTMENTS Subcellular localization image for WFS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IDA 11181571
GO:0030425 dendrite ISS 11181571
genes like me logo Genes that share ontologies with WFS1: view

Pathways & Interactions for WFS1 Gene

genes like me logo Genes that share pathways with WFS1: view

Gene Ontology (GO) - Biological Process for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 20160352
GO:0003091 renal water homeostasis IMP 9817917
GO:0006983 ER overload response TAS 17947299
GO:0007601 visual perception IMP 9771706
GO:0007605 sensory perception of sound IMP 17492394
genes like me logo Genes that share ontologies with WFS1: view

No data available for SIGNOR curated interactions for WFS1 Gene

Drugs & Compounds for WFS1 Gene

(1) Drugs for WFS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for WFS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WFS1: view

Transcripts for WFS1 Gene

Unigene Clusters for WFS1 Gene

Wolfram syndrome 1 (wolframin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WFS1 Gene

No ASD Table

Relevant External Links for WFS1 Gene

GeneLoc Exon Structure for
WFS1
ECgene alternative splicing isoforms for
WFS1

Expression for WFS1 Gene

mRNA expression in normal human tissues for WFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WFS1 Gene

This gene is overexpressed in Ovary (10.7) and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WFS1 Gene



SOURCE GeneReport for Unigene cluster for WFS1 Gene Hs.518602

mRNA Expression by UniProt/SwissProt for WFS1 Gene

O76024-WFS1_HUMAN
Tissue specificity: Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.
genes like me logo Genes that share expression patterns with WFS1: view

Protein tissue co-expression partners for WFS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for WFS1 Gene

Orthologs for WFS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WFS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WFS1 35
  • 87.09 (n)
  • 88.09 (a)
WFS1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WFS1 35
  • 85.56 (n)
  • 84.97 (a)
WFS1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wfs1 35
  • 84.83 (n)
  • 86.71 (a)
Wfs1 16
Wfs1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WFS1 35
  • 98.74 (n)
  • 99.39 (a)
rat
(Rattus norvegicus)
Mammalia Wfs1 35
  • 84.87 (n)
  • 86.15 (a)
oppossum
(Monodelphis domestica)
Mammalia WFS1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WFS1 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves WFS1 35
  • 71.61 (n)
  • 81.39 (a)
WFS1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WFS1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wfs1 35
  • 71.33 (n)
  • 77.5 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3995 35
zebrafish
(Danio rerio)
Actinopterygii wfs1b 35
  • 61.67 (n)
  • 59.28 (a)
wfs1a 36
  • 45 (a)
OneToMany
wfs1b 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4917 37
  • 24 (a)
wfs1 35
  • 44.2 (n)
  • 27.42 (a)
wfs1 36
  • 23 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004409 35
  • 42.56 (n)
  • 26.6 (a)
Species with no ortholog for WFS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WFS1 Gene

ENSEMBL:
Gene Tree for WFS1 (if available)
TreeFam:
Gene Tree for WFS1 (if available)

Paralogs for WFS1 Gene

No data available for Paralogs for WFS1 Gene

Variants for WFS1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for WFS1 Gene

O76024-WFS1_HUMAN
Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese.

Sequence variations from dbSNP and Humsavar for WFS1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1801212 - 6,300,792(+) TCATC(A/G)TCAGC reference, missense
rs1801208 - 6,301,162(+) CACGC(A/C/G/T)CAGGG reference, missense
rs28937892 Wolfram syndrome 1 (WFS1) 6,301,306(+) CGTCC(C/T)GTGCC reference, missense
rs734312 - 6,301,627(+) GTTGC(A/G)CTGGT reference, missense
rs28937891 Wolfram syndrome 1 (WFS1) 6,301,879(+) GGAGG(A/G/T)CCACA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WFS1 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv469711 CNV Loss 16826518
dgv640n27 CNV Loss 19166990
nsv4212 CNV Insertion 18451855
nsv878521 CNV Loss 21882294
nsv878522 CNV Loss 21882294
esv2726993 CNV Deletion 23290073
esv1010760 CNV Deletion 20482838
esv270491 CNV Insertion 20981092
esv2726994 CNV Deletion 23290073
esv2726996 CNV Deletion 23290073
esv2726997 CNV Deletion 23290073
nsv878523 CNV Loss 21882294
nsv878524 CNV Loss 21882294

Variation tolerance for WFS1 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.84; 96.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WFS1 Gene

HapMap Linkage Disequilibrium report
WFS1
Human Gene Mutation Database (HGMD)
WFS1

Disorders for WFS1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for WFS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
cataract 41
  • congenital nuclear cataract 41
wolfram-like syndrome, autosomal dominant
  • wolfram-like syndrome autosomal dominant
deafness, autosomal dominant 6/14/38
  • dfna14
wfs1-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search WFS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WFS1_HUMAN
  • Cataract 41 (CTRCT41) [MIM:116400]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. {ECO:0000269 PubMed:23531866}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. {ECO:0000269 PubMed:11709537, ECO:0000269 PubMed:11709538, ECO:0000269 PubMed:12181639, ECO:0000269 PubMed:17517145, ECO:0000269 PubMed:18518985, ECO:0000269 PubMed:18688868, ECO:0000269 PubMed:21356526, ECO:0000269 PubMed:24462758}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. {ECO:0000269 PubMed:10521293, ECO:0000269 PubMed:11161832, ECO:0000269 PubMed:11295831, ECO:0000269 PubMed:15605410, ECO:0000269 PubMed:21538838, ECO:0000269 PubMed:22226368, ECO:0000269 PubMed:9771706, ECO:0000269 PubMed:9817917}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. {ECO:0000269 PubMed:16648378, ECO:0000269 PubMed:20069065, ECO:0000269 PubMed:21538838}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for WFS1 Gene

Wolfram syndrome,autosomal recessive,progressive neurodegenerative disorder,diabetes insipidus,non autoimmune insulin dependent diabetes mellitus,(optic atrophy,neurosensory deafness,renal-tract abnormalities,late ataxia and myoclonus),peripheral neuropathy psychiatric illness,Dueto-vasopressin neuron loss in the supraoptic nucleus and defect in precursor processing

Relevant External Links for WFS1

Genetic Association Database (GAD)
WFS1
Human Genome Epidemiology (HuGE) Navigator
WFS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WFS1
genes like me logo Genes that share disorders with WFS1: view

Publications for WFS1 Gene

  1. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. (PMID: 10760554) Ohtsuki T. … Arinami T. (J. Affect. Disord. 2000) 3 4 23 48 67
  2. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). (PMID: 9771706) Inoue H. … Permutt M.A. (Nat. Genet. 1998) 2 3 23
  3. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. (PMID: 19833888) Simonis-Bik A.M. … 't Hart L.M. (Diabetes 2010) 3 23
  4. Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies. (PMID: 19877185) Fujikawa T. … Kitamura K. (Laryngoscope 2010) 3 23
  5. Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1. (PMID: 20069065) Hogewind B.F. … Cremers C.W. (Mol. Vis. 2010) 3 23

Products for WFS1 Gene

Sources for WFS1 Gene

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