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Protein

WASH complex subunit 5

Gene

WASHC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666).4 Publications

Caution

The function of the WASH complex is debated. One study using partially purified samples reported a nucleation-promoting factor (NPF) activity (PubMed:19922875). In another study, the reconstituted and highly purified recombinant WASH core complex did not show activity toward Arp2/3 complex suggesting a rather inhibitory role towards WASH NPF activity (PubMed:20498093).Curated

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
WASH complex subunit 5Imported
Alternative name(s):
Strumpellin
WASH complex subunit strumpellinCurated
Gene namesi
Name:WASHC5Imported
Synonyms:KIAA0196
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164961.15
HGNCiHGNC:28984 WASHC5
MIMi610657 gene
neXtProtiNX_Q12768

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 8, autosomal dominant (SPG8)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:603563
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069984226I → T in SPG8; dopamine responsive spasticity. 1 PublicationCorresponds to variant dbSNP:rs755285830Ensembl.1
Natural variantiVAR_031955471N → D in SPG8; does not alter subcellular distribution; no effect on its binding to VCP; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338865EnsemblClinVar.1
Natural variantiVAR_031956619L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338866EnsemblClinVar.1
Natural variantiVAR_072417620V → A in SPG8. 1 Publication1
Natural variantiVAR_031957626V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338867EnsemblClinVar.1
Natural variantiVAR_069985696G → A in SPG8. 1 PublicationCorresponds to variant dbSNP:rs397515564EnsemblClinVar.1
Ritscher-Schinzel syndrome 1 (RTSC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.
See also OMIM:220210

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi9897
GeneReviewsiKIAA0196
MalaCardsiWASHC5
MIMi220210 phenotype
603563 phenotype
OpenTargetsiENSG00000164961
Orphaneti7 3C syndrome
100989 Autosomal dominant spastic paraplegia type 8
PharmGKBiPA142671624

Polymorphism and mutation databases

BioMutaiKIAA0196
DMDMi2495719

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507331 – 1159WASH complex subunit 5Add BLAST1159

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei917PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12768
MaxQBiQ12768
PaxDbiQ12768
PeptideAtlasiQ12768
PRIDEiQ12768
ProteomicsDBi58911

PTM databases

iPTMnetiQ12768
PhosphoSitePlusiQ12768

Expressioni

Tissue specificityi

Expressed ubiquitously.1 Publication

Gene expression databases

BgeeiENSG00000164961
CleanExiHS_KIAA0196
ExpressionAtlasiQ12768 baseline and differential
GenevisibleiQ12768 HS

Organism-specific databases

HPAiCAB034216
CAB034219
HPA064649
HPA070916

Interactioni

Subunit structurei

Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts with VCP, PI4K2A.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SNX1Q135962EBI-2563794,EBI-2822329

Protein-protein interaction databases

BioGridi115226, 31 interactors
ComplexPortaliCPX-1163 WASH complex, variant WASHC1/WASHC2C
CPX-1168 WASH complex, variant WASH2P/WASHC2C
CPX-1169 WASH complex, variant WASH3P/WASHC2C
CPX-1170 WASH complex, variant WASH4P/WASHC2C
CPX-1171 WASH complex, variant WASH6P/WASHC2C
CPX-1172 WASH complex, variant WASHC1/WASHC2A
CPX-1173 WASH complex, variant WASH2P/WASHC2A
CPX-1174 WASH complex, variant WASH3P/WASHC2A
CPX-1175 WASH complex, variant WASH4P/WASHC2A
CPX-1176 WASH complex, variant WASH6P/WASHC2A
CORUMiQ12768
IntActiQ12768, 17 interactors
STRINGi9606.ENSP00000318016

Structurei

3D structure databases

ProteinModelPortaliQ12768
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the strumpellin family.Curated

Phylogenomic databases

eggNOGiKOG3666 Eukaryota
ENOG410XNSS LUCA
GeneTreeiENSGT00390000011137
HOGENOMiHOG000258245
HOVERGENiHBG102793
InParanoidiQ12768
KOiK18464
OMAiCRKPADP
OrthoDBiEOG091G02GF
PhylomeDBiQ12768
TreeFamiTF314480

Family and domain databases

InterProiView protein in InterPro
IPR019393 WASH_strumpellin
PANTHERiPTHR15691 PTHR15691, 1 hit
PfamiView protein in Pfam
PF10266 Strumpellin, 1 hit

Sequencei

Sequence statusi: Complete.

Q12768-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLDFLAENNL CGQAILRIVS CGNAIIAELL RLSEFIPAVF RLKDRADQQK
60 70 80 90 100
YGDIIFDFSY FKGPELWESK LDAKPELQDL DEEFRENNIE IVTRFYLAFQ
110 120 130 140 150
SVHKYIVDLN RYLDDLNEGV YIQQTLETVL LNEDGKQLLC EALYLYGVML
160 170 180 190 200
LVIDQKIEGE VRERMLVSYY RYSAARSSAD SNMDDICKLL RSTGYSSQPG
210 220 230 240 250
AKRPSNYPES YFQRVPINES FISMVIGRLR SDDIYNQVSA YPLPEHRSTA
260 270 280 290 300
LANQAAMLYV ILYFEPSILH THQAKMREIV DKYFPDNWVI SIYMGITVNL
310 320 330 340 350
VDAWEPYKAA KTALNNTLDL SNVREQASRY ATVSERVHAQ VQQFLKEGYL
360 370 380 390 400
REEMVLDNIP KLLNCLRDCN VAIRWLMLHT ADSACDPNNK RLRQIKDQIL
410 420 430 440 450
TDSRYNPRIL FQLLLDTAQF EFILKEMFKQ MLSEKQTKWE HYKKEGSERM
460 470 480 490 500
TELADVFSGV KPLTRVEKNE NLQAWFREIS KQILSLNYDD STAAGRKTVQ
510 520 530 540 550
LIQALEEVQE FHQLESNLQV CQFLADTRKF LHQMIRTINI KEEVLITMQI
560 570 580 590 600
VGDLSFAWQL IDSFTSIMQE SIRVNPSMVT KLRATFLKLA SALDLPLLRI
610 620 630 640 650
NQANSPDLLS VSQYYSGELV SYVRKVLQII PESMFTSLLK IIKLQTHDII
660 670 680 690 700
EVPTRLDKDK LRDYAQLGPR YEVAKLTHAI SIFTEGILMM KTTLVGIIKV
710 720 730 740 750
DPKQLLEDGI RKELVKRVAF ALHRGLIFNP RAKPSELMPK LKELGATMDG
760 770 780 790 800
FHRSFEYIQD YVNIYGLKIW QEEVSRIINY NVEQECNNFL RTKIQDWQSM
810 820 830 840 850
YQSTHIPIPK FTPVDESVTF IGRLCREILR ITDPKMTCHI DQLNTWYDMK
860 870 880 890 900
THQEVTSSRL FSEIQTTLGT FGLNGLDRLL CFMIVKELQN FLSMFQKIIL
910 920 930 940 950
RDRTVQDTLK TLMNAVSPLK SIVANSNKIY FSAIAKTQKI WTAYLEAIMK
960 970 980 990 1000
VGQMQILRQQ IANELNYSCR FDSKHLAAAL ENLNKALLAD IEAHYQDPSL
1010 1020 1030 1040 1050
PYPKEDNTLL YEITAYLEAA GIHNPLNKIY ITTKRLPYFP IVNFLFLIAQ
1060 1070 1080 1090 1100
LPKLQYNKNL GMVCRKPTDP VDWPPLVLGL LTLLKQFHSR YTEQFLALIG
1110 1120 1130 1140 1150
QFICSTVEQC TSQKIPEIPA DVVGALLFLE DYVRYTKLPR RVAEAHVPNF

IFDEFRTVL
Length:1,159
Mass (Da):134,286
Last modified:November 1, 1997 - v1
Checksum:iD6156D359981FC5F
GO

Sequence cautioni

The sequence BAA12109 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti229L → R in AAH26951 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069984226I → T in SPG8; dopamine responsive spasticity. 1 PublicationCorresponds to variant dbSNP:rs755285830Ensembl.1
Natural variantiVAR_031955471N → D in SPG8; does not alter subcellular distribution; no effect on its binding to VCP; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338865EnsemblClinVar.1
Natural variantiVAR_031956619L → F in SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338866EnsemblClinVar.1
Natural variantiVAR_072417620V → A in SPG8. 1 Publication1
Natural variantiVAR_031957626V → F in SPG8; fails to rescue the curly phenotype in a zebrafish model; no effect on assembly in the WASH complex. 2 PublicationsCorresponds to variant dbSNP:rs80338867EnsemblClinVar.1
Natural variantiVAR_069985696G → A in SPG8. 1 PublicationCorresponds to variant dbSNP:rs397515564EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83780 mRNA Translation: BAA12109.2 Different initiation.
AK291032 mRNA Translation: BAF83721.1
CH471060 Genomic DNA Translation: EAW92081.1
BC026951 mRNA Translation: AAH26951.1
BC106015 mRNA Translation: AAI06016.1
CCDSiCCDS6355.1
RefSeqiNP_055661.3, NM_014846.3
XP_016869602.1, XM_017014113.1
UniGeneiHs.270043

Genome annotation databases

EnsembliENST00000318410; ENSP00000318016; ENSG00000164961
GeneIDi9897
KEGGihsa:9897
UCSCiuc003yrt.4 human

Similar proteinsi

Entry informationi

Entry nameiWASC5_HUMAN
AccessioniPrimary (citable) accession number: Q12768
Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: June 20, 2018
This is version 135 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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