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WFS1 Wolfram syndrome 1 (wolframin) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001145853 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
NM_006005 Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15

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Gene Symbol WFS1
Entrez Gene ID 7466
Full Name Wolfram syndrome 1 (wolframin)
Synonyms CTRCT41, WFRS, WFS, WFSL
General protein information
Preferred Names
wolframin
Names
wolframin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.1

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].
Disorder

MIM: 606201

Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38,

mRNA Protein Product Sequence Price Select
NM_001145853, 224994204 NP_001139325, 224994205 wolframin ORF Sequence $660.00
NM_006005, 224994202 NP_005996, 224994203 wolframin ORF Sequence $660.00
KEGG
hsa04141Protein processing in endoplasmic reticulum
Reactome
REACT_18356Unfolded Protein Response (UPR)
REACT_18368IRE1alpha activates chaperones
REACT_17015Metabolism of proteins
REACT_18273XBP1(S) activates chaperone genes
Homo sapiens (human)WFS1NP_001139325.1
Pan troglodytes (chimpanzee)WFS1XP_003310288.1
Macaca mulatta (Rhesus monkey)WFS1XP_001092811.1
Canis lupus familiaris (dog)WFS1XP_539234.4
Bos taurus (cattle)WFS1XP_002688446.1
Mus musculus (house mouse)Wfs1NP_035846.1
Rattus norvegicus (Norway rat)Wfs1NP_114011.1
Gallus gallus (chicken)WFS1XP_420803.2
Danio rerio (zebrafish)wfs1bXP_005157280.1
Drosophila melanogaster (fruit fly)wfs1NP_001189267.1
Xenopus (Silurana) tropicalis (western clawed frog)wfs1NP_001106459.1
Process
IDNameEvidence
GO:0001822kidney developmentIMP
GO:0003091renal water homeostasisIMP
GO:0006983ER overload responseIC
GO:0006983ER overload responseTAS
GO:0006987activation of signaling protein activity involved in unfolded protein responseTAS
GO:0007601visual perceptionIMP
GO:0007605sensory perception of soundIMP
GO:0022417protein maturation by protein foldingIC
GO:0030433ER-associated ubiquitin-dependent protein catabolic processISS
GO:0030968endoplasmic reticulum unfolded protein responseISS
GO:0030968endoplasmic reticulum unfolded protein responseTAS
GO:0031398positive regulation of protein ubiquitinationISS
GO:0032469endoplasmic reticulum calcium ion homeostasisIDA
GO:0034976response to endoplasmic reticulum stressIDA
GO:0042048olfactory behaviorIEA
GO:0042593glucose homeostasisIMP
GO:0043069negative regulation of programmed cell deathIMP
GO:0043433negative regulation of sequence-specific DNA binding transcription factor activityISS
GO:0043524negative regulation of neuron apoptotic processIMP
GO:0044267cellular protein metabolic processTAS
GO:0045862positive regulation of proteolysisISS
GO:0045927positive regulation of growthISS
GO:0050821protein stabilizationISS
GO:0050877neurological system processIMP
GO:0051247positive regulation of protein metabolic processIDA
GO:0051928positive regulation of calcium ion transportIDA
GO:0055074calcium ion homeostasisIDA
GO:0070845polyubiquitinated misfolded protein transportISS
GO:1902236negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressISS
GO:2000675negative regulation of type B pancreatic cell apoptotic processIMP
Component
IDNameEvidence
GO:0005783endoplasmic reticulumISS
GO:0005789endoplasmic reticulum membraneTAS
GO:0030176integral component of endoplasmic reticulum membraneIDA
GO:0030425dendriteISS
Function
IDNameEvidence
GO:0005215transporter activityISS
GO:0005516calmodulin bindingIEA
GO:0031625ubiquitin protein ligase bindingISS
GO:0033613activating transcription factor bindingISS
GO:0048306calcium-dependent protein bindingIEA
GO:0051117ATPase bindingIPI
GeneCards WFS1
UniProt O76024
Vega OTTHUMG00000090431
MIM 606201
Ensembl ENSG00000109501
HGNC 12762
HPRD 05864

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the WFS1 gene?

The WFS1 gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing. The wolframin protein is found in many different tissues, such as the pancreas, brain, heart, bones, muscles, lungs, liver, and kidneys.

Within cells, wolframin is located in the membrane of a structure called the endoplasmic reticulum. Among its many activities, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape to function properly. The endoplasmic reticulum also helps transport proteins and other molecules to specific sites within the cell or to the cell surface. Wolframin is thought to play a role in protein folding and aid in the maintenance of endoplasmic reticulum function by regulating calcium levels. In the pancreas, wolframin may help fold a protein precursor of insulin (called proinsulin) into the mature hormone that controls blood glucose levels. In the inner ear, wolframin may help maintain the proper levels of calcium ions or other charged particles that are essential for hearing.

Interactant

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