• Gene id: 23325

Gene Summary

• Gene Symbol: WASHC4   Gene   UCSC   Ensembl
• Aliases: KIAA1033, MRT43, SWIP
• Gene name: WASH complex subunit 4
• Alternate names: WASH complex subunit 4, WASH complex subunit 7, WASH complex subunit SWIP, strumpellin and WASH-interacting protein,
• Gene location: 12q23.3 (105107725: 105169133)     Exons: 36     NC_000012.12
• Gene summary(Entrez): This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multipl
• OMIM: 615748

Protein Summary

• Protein general information: Q2M389  
  • Name: WASH complex subunit 4 (Strumpellin and WASH interacting protein) (SWIP) (WASH complex subunit SWIP)
  • Length: 1173  
  • Mass: 136403
• Sequence:

  MAVETLSPDWEFDRVDDGSQKIHAEVQLKNYGKFLEEYTSQLRRIEDALDDSIGDVWDFNLDPIALKLLPYEQSS
  LLELIKTENKVLNKVITVYAALCCEIKKLKYEAETKFYNGLLFYGEGATDASMVEGDCQIQMGRFISFLQELSCF
  VTRCYEVVMNVVHQLAALYISNKIAPKIIETTGVHFQTMYEHLGELLTVLLTLDEIIDNHITLKDHWTMYKRLLK
  SVHHNPSKFGIQEEKLKPFEKFLLKLEGQLLDGMIFQACIEQQFDSLNGGVSVSKNSTFAEEFAHSIRSIFANVE
  AKLGEPSEIDQRDKYVGICGLFVLHFQIFRTIDKKFYKSLLDICKKVPAITLTANIIWFPDNFLIQKIPAAAKLL
  DRKSLQAIKIHRDTFLQQKAQSLTKDVQSYYVFVSSWMMKMESILSKEQRMDKFAEDLTNRCNVFIQGFLYAYSI
  STIIKTTMNLYMSMQKPMTKTSVKALCRLVELLKAIEHMFYRRSMVVADSVSHITQHLQHQALHSISVAKKRVIS
  DKKYSEQRLDVLSALVLAENTLNGPSTKQRRLIVSLALSVGTQMKTFKDEELFPLQVVMKKLDLISELRERVQTQ
  CDCCFLYWHRAVFPIYLDDVYENAVDAARLHYMFSALRDCVPAMMHARHLESYEILLDCYDKEIMEILNEHLLDK
  LCKEIEKDLRLSVHTHLKLDDRNPFKVGMKDLALFFSLNPIRFFNRFIDIRAYVTHYLDKTFYNLTTVALHDWAT
  YSEMRNLATQRYGLVMTEAHLPSQTLEQGLDVLEIMRNIHIFVSRYLYNLNNQIFIERTSNNKHLNTINIRHIAN
  SIRTHGTGIMNTTVNFTYQFLKKKFYIFSQFMYDEHIKSRLIKDIRFFREIKDQNDHKYPFDRAEKFNRGIRKLG
  VTPEGQSYLDQFRQLISQIGNAMGYVRMIRSGGLHCSSNAIRFVPDLEDIVNFEELVKEEGLAEETLKAARHLDS
  VLSDHTRNSAEGTEYFKMLVDVFAPEFRRPKNIHLRNFYIIVPPLTLNFVEHSISCKEKLNKKNKIGAAFTDDGF
  AMGVAYILKLLDQYREFDSLHWFQSVREKYLKEIRAVAKQQNVQSASQDEKLLQTMNLTQKRLDVYLQEFELLYF
  SLSSARIFFRADKTAAEENQEKKEKEEETKTSNGDLSDSTVSADPVVK

• Structural information:
  • Interpro: IPR028283  IPR028282  IPR028191  IPR027307  
  • STRING: ENSP00000484713
• Other Databases: GeneCards:  WASHC4  Malacards:  WASHC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IBA	cellular component
GO:0007032	endosome organization	IBA	biological process
GO:0071203	WASH complex	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0031083	BLOC-1 complex	IDA	colocalizes with
GO:0071203	WASH complex	IDA	cellular component
GO:0007032	endosome organization	IMP	biological process
GO:0016197	endosomal transport	ISS	biological process
GO:0071203	WASH complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0016197	endosomal transport	IMP	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
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)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)