• Gene id: 7466

Gene Summary

• Gene Symbol: WFS1   Gene   UCSC   Ensembl
• Aliases: CTRCT41, WFRS, WFS, WFSL
• Gene name: wolframin ER transmembrane glycoprotein
• Alternate names: wolframin, Wolfram syndrome 1 (wolframin),
• Gene location: 4p16.1 (6260367: 6303264)     Exons: 10     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 606201

Protein Summary

• Protein general information: O76024  
  • Name: Wolframin
  • Length: 890  
  • Mass: 100,292
• Sequence:

  MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAPAEPQAQHTRSRERAD
  GTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEELNSCTAVDWLVLAAKQGRREAVKLLRRCLA
  DRRGITSENEREVRQLSSETDLERAVRKAALVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQK
  QRRMLERLVSSESKNYIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIK
  EYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVICTLKVFQDSKAWENFR
  TLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFPIASKDCIPCSELAVITGFFTVTSYLSLSTH
  AEPYTRRALATEVTAGLLSLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFK
  GTYCYLVPYLVCFMWCELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVT
  VAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVYNSTLTWQQYGALCGP
  RAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAINMLPFFIGDWMRCLYGEAYPACSPGNTSTA
  EEELCRLKLLAKHPCHIKKFDRYKFEITVGMPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEF
  STILEGRLGSKWPVFELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA

• Structural information:
  • Interpro: IPR011990  IPR026208  IPR026209  
  • STRING: ENSP00000226760
• Other Databases: GeneCards:  WFS1  Malacards:  WFS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000502	proteasome complex	IEA	cellular component
GO:0001822	kidney development	IMP	biological process
GO:0003091	renal water homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006983	ER overload response	IC	biological process
GO:0006983	ER overload response	TAS	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0022417	protein maturation by protein folding	IC	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0033613	activating transcription factor binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043069	negative regulation of programmed cell death	IMP	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0045927	positive regulation of growth	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0050877	neurological system process	IMP	biological process
GO:0051117	ATPase binding	IPI	molecular function
GO:0051247	positive regulation of protein metabolic process	IDA	biological process
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0055074	calcium ion homeostasis	IDA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:1903892	negative regulation of ATF6-mediated unfolded protein response	IDA	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000502	proteasome complex	IEA	cellular component
GO:0001822	kidney development	IMP	biological process
GO:0003091	renal water homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006983	ER overload response	IC	biological process
GO:0006983	ER overload response	TAS	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0022417	protein maturation by protein folding	IC	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0033613	activating transcription factor binding	IEA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043069	negative regulation of programmed cell death	IMP	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IEA	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0045927	positive regulation of growth	IEA	biological process
GO:0045927	positive regulation of growth	ISS	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0050877	neurological system process	IMP	biological process
GO:0051117	ATPase binding	IEA	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051247	positive regulation of protein metabolic process	IDA	biological process
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0055074	calcium ion homeostasis	IDA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:1903892	negative regulation of ATF6-mediated unfolded protein response	IEA	biological process
GO:1903892	negative regulation of ATF6-mediated unfolded protein response	IDA	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IEA	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0003091	renal water homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006983	ER overload response	IC	biological process
GO:0006983	ER overload response	TAS	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007601	visual perception	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0022417	protein maturation by protein folding	IC	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IDA	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043069	negative regulation of programmed cell death	IMP	biological process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0045927	positive regulation of growth	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0050821	protein stabilization	TAS	biological process
GO:0050877	neurological system process	IMP	biological process
GO:0051117	ATPase binding	IPI	molecular function
GO:0051247	positive regulation of protein metabolic process	IDA	biological process
GO:0051928	positive regulation of calcium ion transport	IDA	biological process
GO:0055074	calcium ion homeostasis	IDA	biological process
GO:1903892	negative regulation of ATF6-mediated unfolded protein response	IDA	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Hutchinson-Gilford progeria syndrome	KEGG: H00601
Metabolic syndrome	GAD: 18853134
Obesity	GAD: 20712903
Diabetes	GAD: 606201
Parkinson disease	GAD: 16876316
Deafness	OMIM: 606201
Bipolar disorder	GAD: 10760554
Mood disorders	GAD: 19328217
Psychological disorders	GAD: 15473915
Autism	GAD: 19598235
Male factor infertility	MIK: 22781099
Wolfram syndrome	MIK: 22781099
Cataract	OMIM: 606201
Cryptorchidism	MIK: 28606200
Influences sperm morphology	MIK: 19664290
Male fertility, Wolfram syndrome	MIK: 22781099

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22781099	Male fertility, Wolfram syndrome	WFS1 (c.631G>A (p.Asp211Asn) in exon 5, and family 2: c.1456C>T (p.Gln486*) in exon 8'0			Male infertility	WFS1
19664290	Influences sperm morphology				Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq