HUMAN:WFS1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	WFS1
Protein Name(s)	Wolframin
External Links
UniProt	O76024
EMBL	Y18064 AF084481 AK312897 AC116317 CH471131 CH471131 CH471131 BC030130
CCDS	CCDS3386.1
RefSeq	NP_001139325.1 NP_005996.2
UniGene	Hs.518602 Hs.727283
ProteinModelPortal	O76024
SMR	O76024
BioGrid	113304
IntAct	O76024
MINT	MINT-1418252
STRING	9606.ENSP00000226760
PhosphoSite	O76024
MaxQB	O76024
PaxDb	O76024
PRIDE	O76024
DNASU	7466
Ensembl	ENST00000226760 ENST00000503569
GeneID	7466
KEGG	hsa:7466
UCSC	uc003gix.3
CTD	7466
GeneCards	GC04P006271
GeneReviews	WFS1
H-InvDB	HIX0004060
HGNC	HGNC:12762
HPA	HPA029128
MIM	116400 222300 600965 606201 614296
neXtProt	NX_O76024
Orphanet	90635 1215 98991 3463
PharmGKB	PA37365
eggNOG	NOG82472
GeneTree	ENSGT00390000016928
HOGENOM	HOG000132944
HOVERGEN	HBG014957
InParanoid	O76024
KO	K14020
OMA	GWNHLEP
OrthoDB	EOG7F24S4
PhylomeDB	O76024
TreeFam	TF326849
Reactome	REACT_18273
GeneWiki	WFS1
GenomeRNAi	7466
NextBio	29240
PRO	PR:O76024
Proteomes	UP000005640
Bgee	O76024
CleanEx	HS_WFS1
ExpressionAtlas	O76024
Genevestigator	O76024
GO	GO:0030425 GO:0005783 GO:0005789 GO:0030176 GO:0033613 GO:0051117 GO:0005215 GO:0031625 GO:0006987 GO:0055074 GO:0044267 GO:0032469 GO:0030968 GO:0006983 GO:0030433 GO:0042593 GO:0001822 GO:1902236 GO:0043524 GO:0043069 GO:0043433 GO:2000675 GO:0050877 GO:0042048 GO:0070845 GO:0051928 GO:0045927 GO:0051247 GO:0031398 GO:0045862 GO:0022417 GO:0050821 GO:0003091 GO:0034976 GO:0007605 GO:0007601
InterPro	IPR026208 IPR026209
PANTHER	PTHR13098
PRINTS	PR02060 PR02061

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0030433	ubiquitin-dependent ERAD pathway	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	has_input:(UniProtKB:P18850)	Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	PMID:20160352^[1]	ECO:0000303	author statement without traceable support used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:1903892	negative regulation of ATF6-mediated unfolded protein response	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043433	negative regulation of DNA-binding transcription factor activity	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P18850) part_of:(GO:1903892)	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050821	protein stabilization	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	stabilizes:(UniProtKB:Q86TM6)	Seeded From UniProt	complete
enables	GO:0031625	ubiquitin protein ligase binding	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0031398	positive regulation of protein ubiquitination	PMID:20160352^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P18850)	Seeded From UniProt	complete
involved_in	GO:2000675	negative regulation of type B pancreatic cell apoptotic process	PMID:16087305^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0055074	calcium ion homeostasis	PMID:14527944^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051928	positive regulation of calcium ion transport	PMID:16989814^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0051247	positive regulation of protein metabolic process	PMID:17947299^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0051117	ATPase binding	PMID:17947299^[5]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P05026	F		Seeded From UniProt	complete
involved_in	GO:0050877	nervous system process	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050821	protein stabilization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56695	P	stabilizes:(UniProtKB:Q9DBY1)	Seeded From UniProt	complete
involved_in	GO:0045927	positive regulation of growth	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56695	P		Seeded From UniProt	complete
involved_in	GO:0043524	negative regulation of neuron apoptotic process	PMID:9771706^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043524	negative regulation of neuron apoptotic process	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043069	negative regulation of programmed cell death	PMID:9771706^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042593	glucose homeostasis	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0034976	response to endoplasmic reticulum stress	PMID:15994758^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0032469	endoplasmic reticulum calcium ion homeostasis	PMID:16989814^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0031398	positive regulation of protein ubiquitination	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56695	P	has_regulation_target:(UniProtKB:F6VAN0)	Seeded From UniProt	complete
involved_in	GO:0030433	ubiquitin-dependent ERAD pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56695	P	has_input:(UniProtKB:F6VAN0)	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	PMID:11181571^[9]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9JLT5	C		Seeded From UniProt	complete
part_of	GO:0030176	integral component of endoplasmic reticulum membrane	PMID:11181571^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030176	integral component of endoplasmic reticulum membrane	PMID:14527944^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0022417	protein maturation by protein folding	PMID:16989814^[4]	ECO:0000305	curator inference used in manual assertion	GO:0032469	P		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	PMID:17492394^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	PMID:9771706^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006983	ER overload response	PMID:16989814^[4]	ECO:0000305	curator inference used in manual assertion	GO:0032469	P		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P56695	C		Seeded From UniProt	complete
involved_in	GO:0003091	renal water homeostasis	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0001822	kidney development	PMID:9817917^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1903892	negative regulation of ATF6-mediated unfolded protein response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
involved_in	GO:0050821	protein stabilization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
enables	GO:0048306	calcium-dependent protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	F		Seeded From UniProt	complete
involved_in	GO:0043433	negative regulation of DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
involved_in	GO:0042048	olfactory behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
enables	GO:0033613	activating transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	F		Seeded From UniProt	complete
enables	GO:0031625	ubiquitin protein ligase binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	F		Seeded From UniProt	complete
involved_in	GO:0031016	pancreas development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
part_of	GO:0030285	integral component of synaptic vesicle membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	C		Seeded From UniProt	complete
enables	GO:0005516	calmodulin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	F		Seeded From UniProt	complete
part_of	GO:0000502	proteasome complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	C		Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:E9PT53 ensembl:ENSRNOP00000032218	P		Seeded From UniProt	complete
involved_in	GO:2000675	negative regulation of type B pancreatic cell apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
enables	GO:0051117	ATPase binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	F		Seeded From UniProt	complete
involved_in	GO:0050821	protein stabilization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:0045927	positive regulation of growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:0034976	response to endoplasmic reticulum stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:0031398	positive regulation of protein ubiquitination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:0030968	endoplasmic reticulum unfolded protein response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
involved_in	GO:0030433	ubiquitin-dependent ERAD pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	P		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P56695 ensembl:ENSMUSP00000048053	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026208	C		Seeded From UniProt	complete
involved_in	GO:0055074	calcium ion homeostasis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026208	P		Seeded From UniProt	complete
involved_in	GO:0050821	protein stabilization	PMID:23710284^[11]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	stabilizes:(UniProtKB:Q86TM6)	Seeded From UniProt	complete
involved_in	GO:0006983	ER overload response	PMID:17947299^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0044267	cellular protein metabolic process	Reactome:R-HSA-392499	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043687	post-translational protein modification	Reactome:R-HSA-597592	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0036498	IRE1-mediated unfolded protein response	Reactome:R-HSA-381070	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	Reactome:R-HSA-1791169	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005788	endoplasmic reticulum lumen	Reactome:R-HSA-8952289	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005783	endoplasmic reticulum	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0256	C		Seeded From UniProt	complete
part_of	GO:0005789	endoplasmic reticulum membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0097	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Fonseca, SG et al. (2010) Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J. Clin. Invest. 120 744-55 PubMed GONUTS page
↑ Philbrook, C et al. () Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp. Gerontol. 40 671-8 PubMed GONUTS page
↑ ^3.0 ^3.1 Osman, AA et al. (2003) Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J. Biol. Chem. 278 52755-62 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Takei, D et al. (2006) WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett. 580 5635-40 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Zatyka, M et al. (2008) Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum. Mol. Genet. 17 190-200 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Strom, TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7 2021-8 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 Inoue, H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20 143-8 PubMed GONUTS page
↑ Ueda, K et al. (2005) Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur. J. Endocrinol. 153 167-76 PubMed GONUTS page
↑ ^9.0 ^9.1 Takeda, K et al. (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum. Mol. Genet. 10 477-84 PubMed GONUTS page
↑ Fukuoka, H et al. (2007) Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J. Hum. Genet. 52 510-5 PubMed GONUTS page
↑ Omura, T et al. (2013) Endoplasmic reticulum stress and Parkinson's disease: the role of HRD1 in averting apoptosis in neurodegenerative disease. Oxid Med Cell Longev 2013 239854 PubMed GONUTS page

[PMID:20160352-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Fonseca, SG et al. (2010) Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. J. Clin. Invest. 120 744-55 PubMed GONUTS page

[PMID:16087305-2] Philbrook, C et al. () Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp. Gerontol. 40 671-8 PubMed GONUTS page

[PMID:14527944-3] 3.0 ^3.1 Osman, AA et al. (2003) Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J. Biol. Chem. 278 52755-62 PubMed GONUTS page

[PMID:16989814-4] 4.0 ^4.1 ^4.2 ^4.3 Takei, D et al. (2006) WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett. 580 5635-40 PubMed GONUTS page

[PMID:17947299-5] 5.0 ^5.1 ^5.2 Zatyka, M et al. (2008) Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum. Mol. Genet. 17 190-200 PubMed GONUTS page

[PMID:9817917-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Strom, TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7 2021-8 PubMed GONUTS page

[PMID:9771706-7] 7.0 ^7.1 ^7.2 Inoue, H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20 143-8 PubMed GONUTS page

[PMID:15994758-8] Ueda, K et al. (2005) Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Eur. J. Endocrinol. 153 167-76 PubMed GONUTS page

[PMID:11181571-9] 9.0 ^9.1 Takeda, K et al. (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum. Mol. Genet. 10 477-84 PubMed GONUTS page

[PMID:17492394-10] Fukuoka, H et al. (2007) Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J. Hum. Genet. 52 510-5 PubMed GONUTS page

[PMID:23710284-11] Omura, T et al. (2013) Endoplasmic reticulum stress and Parkinson's disease: the role of HRD1 in averting apoptosis in neurodegenerative disease. Oxid Med Cell Longev 2013 239854 PubMed GONUTS page

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HUMAN:WFS1

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