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Protein

WASH complex subunit strumpellin

Gene

KIAA0196

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164961-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
WASH complex subunit strumpellin
Alternative name(s):
Strumpellin
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:28984. KIAA0196.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB-SubCell
  • early endosome Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • WASH complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 8, autosomal dominant (SPG8)3 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 rs755285830dbSNPEnsembl.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 rs80338865dbSNPEnsembl.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 rs80338866dbSNPEnsembl.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 rs80338867dbSNPEnsembl.1
Natural variantiVAR_069985696G → A in SPG8. 1 PublicationCorresponds to variant rs397515564dbSNPEnsembl.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.
MalaCardsiKIAA0196.
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 strumpellinAdd BLAST1159

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei917PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12768.
MaxQBiQ12768.
PaxDbiQ12768.
PeptideAtlasiQ12768.
PRIDEiQ12768.

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.

Interactioni

Subunit structurei

Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21, KIAA1033/SWIP, KIAA0196/strumpellin and CCDC53. The WASH core complex associates via FAM21 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

Protein-protein interaction databases

BioGridi115226. 26 interactors.
IntActiQ12768. 8 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.
OMAiMLYVCLY.
OrthoDBiEOG091G02GF.
PhylomeDBiQ12768.
TreeFamiTF314480.

Family and domain databases

InterProiIPR019393. WASH_strumpellin.
[Graphical view]
PANTHERiPTHR15691. PTHR15691. 1 hit.
PfamiPF10266. Strumpellin. 1 hit.
[Graphical view]

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 rs755285830dbSNPEnsembl.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 rs80338865dbSNPEnsembl.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 rs80338866dbSNPEnsembl.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 rs80338867dbSNPEnsembl.1
Natural variantiVAR_069985696G → A in SPG8. 1 PublicationCorresponds to variant rs397515564dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ12768.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115226. 26 interactors.
IntActiQ12768. 8 interactors.
STRINGi9606.ENSP00000318016.

PTM databases

iPTMnetiQ12768.
PhosphoSitePlusiQ12768.

Polymorphism and mutation databases

BioMutaiKIAA0196.
DMDMi2495719.

Proteomic databases

EPDiQ12768.
MaxQBiQ12768.
PaxDbiQ12768.
PeptideAtlasiQ12768.
PRIDEiQ12768.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9897.
DisGeNETi9897.
GeneCardsiKIAA0196.
GeneReviewsiKIAA0196.
HGNCiHGNC:28984. KIAA0196.
HPAiCAB034216.
CAB034219.
MalaCardsiKIAA0196.
MIMi220210. phenotype.
603563. phenotype.
610657. gene.
neXtProtiNX_Q12768.
OpenTargetsiENSG00000164961.
Orphaneti7. 3C syndrome.
100989. Autosomal dominant spastic paraplegia type 8.
PharmGKBiPA142671624.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164961-MONOMER.

Miscellaneous databases

GeneWikiiKIAA0196.
GenomeRNAii9897.
PROiQ12768.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164961.
CleanExiHS_KIAA0196.
ExpressionAtlasiQ12768. baseline and differential.
GenevisibleiQ12768. HS.

Family and domain databases

InterProiIPR019393. WASH_strumpellin.
[Graphical view]
PANTHERiPTHR15691. PTHR15691. 1 hit.
PfamiPF10266. Strumpellin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTRUM_HUMAN
AccessioniPrimary (citable) accession number: Q12768
Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 2, 2016
This is version 126 of the entry and version 1 of the sequence. [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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.