• Gene id: 9897

Gene Summary

• Gene Symbol: WASHC5   Gene   UCSC   Ensembl
• Aliases: KIAA0196, RTSC, RTSC1, SPG8
• Gene name: WASH complex subunit 5
• Alternate names: WASH complex subunit 5, WASH complex subunit strumpellin, strumpellin,
• Gene location: 8q24.13 (125091818: 125024259)     Exons: 31     NC_000008.11
• Gene summary(Entrez): This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named fo
• OMIM: 610657

Protein Summary

• Protein general information: Q12768  
  • Name: WASH complex subunit 5 (Strumpellin) (WASH complex subunit strumpellin)
  • Length: 1159  
  • Mass: 134286
  • Tissue specificity: Expressed ubiquitously. {ECO
• Sequence:

  MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSYFKGPELWESKLDAKP
  ELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGVYIQQTLETVLLNEDGKQLLCEALYLYGVML
  LVIDQKIEGEVRERMLVSYYRYSAARSSADSNMDDICKLLRSTGYSSQPGAKRPSNYPESYFQRVPINESFISMV
  IGRLRSDDIYNQVSAYPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIVDKYFPDNWVISIYMGITVNL
  VDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYLREEMVLDNIPKLLNCLRDCNVAIRW
  LMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQFEFILKEMFKQMLSEKQTKWEHYKKEGSERM
  TELADVFSGVKPLTRVEKNENLQAWFREISKQILSLNYDDSTAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLA
  DTRKFLHQMIRTINIKEEVLITMQIVGDLSFAWQLIDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRI
  NQANSPDLLSVSQYYSGELVSYVRKVLQIIPESMFTSLLKIIKLQTHDIIEVPTRLDKDKLRDYAQLGPRYEVAK
  LTHAISIFTEGILMMKTTLVGIIKVDPKQLLEDGIRKELVKRVAFALHRGLIFNPRAKPSELMPKLKELGATMDG
  FHRSFEYIQDYVNIYGLKIWQEEVSRIINYNVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLC
  REILRITDPKMTCHIDQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIIL
  RDRTVQDTLKTLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQIANELNYSCRFDSKH
  LAAALENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAAGIHNPLNKIYITTKRLPYFPIVNFLFLIAQ
  LPKLQYNKNLGMVCRKPTDPVDWPPLVLGLLTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPADVVGA
  LLFLEDYVRYTKLPRRVAEAHVPNFIFDEFRTVL

• Structural information:
  • Interpro: IPR019393  
  • STRING: ENSP00000318016
• Other Databases: GeneCards:  WASHC5  Malacards:  WASHC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071203	WASH complex	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071203	WASH complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0090306	spindle assembly involved in meiosis	IEA	biological process
GO:0051125	regulation of actin nucleation	IEA	biological process
GO:0043933	protein-containing complex subunit organization	IEA	biological process
GO:0016197	endosomal transport	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0097494	regulation of vesicle size	IEA	biological process
GO:0071203	WASH complex	IEA	cellular component
GO:0040038	polar body extrusion after meiotic divisions	IEA	biological process
GO:0034629	cellular protein-containing complex localization	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0001556	oocyte maturation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
3C syndrome	KEGG:H01568
Hereditary spastic paraplegia	KEGG:H00266
3C syndrome	KEGG:H01568
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)