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

Gene Symbol	WFS1
Entrez Gene ID	7466
Full Name	Wolfram syndrome 1 (wolframin)
Synonyms	FLJ51211, WFRS, WFS
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:4 Map Location:4p16
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].
Disorder	MIM: 606201 Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38,

KEGG

hsa04141

Protein processing in endoplasmic reticulum

Reactome

REACT_15380	Diabetes pathways
REACT_18356	Unfolded Protein Response
REACT_18368	Activation of Chaperones by IRE1alpha

Homo sapiens (human)	WFS1	NP_001139325.1
Canis lupus familiaris (dog)	WFS1	XP_539234.2
Mus musculus (house mouse)	Wfs1	NP_035846.1
Rattus norvegicus (Norway rat)	Wfs1	NP_114011.1
Gallus gallus (chicken)	WFS1	XP_420803.2
Danio rerio (zebrafish)	wfs1	XP_695252.3
Drosophila melanogaster (fruit fly)	wfs1	NP_651079.2

Process

ID	Name	Evidence
GO:0001822	kidney development	IMP
GO:0003091	renal water homeostasis	IMP
GO:0006983	ER overload response	IC
GO:0006983	ER overload response	TAS
GO:0007601	visual perception	IMP
GO:0007605	sensory perception of sound	IMP
GO:0022417	protein maturation by protein folding	IC
GO:0030433	ER-associated protein catabolic process	ISS
GO:0030968	endoplasmic reticulum unfolded protein response	ISS
GO:0031398	positive regulation of protein ubiquitination	ISS
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA
GO:0034976	response to endoplasmic reticulum stress	IDA
GO:0042593	glucose homeostasis	IMP
GO:0042981	regulation of apoptosis	IDA
GO:0043066	negative regulation of apoptosis	ISS
GO:0043069	negative regulation of programmed cell death	IMP
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	ISS
GO:0043524	negative regulation of neuron apoptosis	IMP
GO:0045862	positive regulation of proteolysis	ISS
GO:0045927	positive regulation of growth	ISS
GO:0050821	protein stabilization	ISS
GO:0050877	neurological system process	IMP
GO:0051247	positive regulation of protein metabolic process	IDA
GO:0051928	positive regulation of calcium ion transport	IDA
GO:0055074	calcium ion homeostasis	IDA
GO:0070845	polyubiquitinated misfolded protein transport	ISS

Component

ID	Name	Evidence
GO:0005783	endoplasmic reticulum	ISS
GO:0005789	endoplasmic reticulum membrane	IEA
GO:0016020	membrane	IEA
GO:0016021	integral to membrane	IEA
GO:0030176	integral to endoplasmic reticulum membrane	IDA
GO:0030425	dendrite	ISS

Function

ID	Name	Evidence
GO:0005215	transporter activity	ISS
GO:0031625	ubiquitin protein ligase binding	ISS
GO:0033613	activating transcription factor binding	ISS
GO:0051117	ATPase binding	IPI

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

RefSeq Accession	Definition	Sequence	Price	Select
NM_006005	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 1, mRNA.	Full Length	$1274.00
NM_006005		ORF Sequence	$775.17
NM_001145853	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	Full Length	$1272.60
NM_001145853		ORF Sequence	$775.17