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Entry version 140 (13 Feb 2019)
Sequence version 1 (01 Nov 1997)
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Protein

WASH complex subunit 5

Gene

WASHC5

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
WASH complex subunit 5Imported
Alternative name(s):
Strumpellin
WASH complex subunit strumpellinCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WASHC5Imported
Synonyms:KIAA0196
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000164961.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28984 WASHC5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610657 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12768

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Endosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9897

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
WASHC5

MalaCards human disease database

More...
MalaCardsi
WASHC5
MIMi220210 phenotype
603563 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164961

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
7 3C syndrome
100989 Autosomal dominant spastic paraplegia type 8

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671624

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WASHC5

Domain mapping of disease mutations (DMDM)

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DMDMi
2495719

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000507331 – 1159WASH complex subunit 5Add BLAST1159

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei917PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q12768

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q12768

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12768

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q12768

PeptideAtlas

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PeptideAtlasi
Q12768

PRoteomics IDEntifications database

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PRIDEi
Q12768

ProteomicsDB human proteome resource

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ProteomicsDBi
58911

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q12768

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q12768

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed ubiquitously.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164961 Expressed in 220 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12768 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12768 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB034216
CAB034219
HPA064649
HPA070916

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115226, 32 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-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

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q12768

Protein interaction database and analysis system

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IntActi
Q12768, 18 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000318016

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q12768

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the strumpellin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3666 Eukaryota
ENOG410XNSS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011137

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000258245

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG102793

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12768

KEGG Orthology (KO)

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KOi
K18464

Identification of Orthologs from Complete Genome Data

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OMAi
QSIHHYA

Database of Orthologous Groups

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OrthoDBi
88928at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q12768

TreeFam database of animal gene trees

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TreeFami
TF314480

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019393 WASH_strumpellin

The PANTHER Classification System

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PANTHERi
PTHR15691 PTHR15691, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10266 Strumpellin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD6156D359981FC5F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EQI7E7EQI7_HUMAN
WASH complex subunit 5
WASHC5
1,011Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFU6E5RFU6_HUMAN
WASH complex subunit 5
WASHC5
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS6355.1

NCBI Reference Sequences

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RefSeqi
NP_055661.3, NM_014846.3
XP_016869602.1, XM_017014113.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.270043

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000318410; ENSP00000318016; ENSG00000164961

Database of genes from NCBI RefSeq genomes

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GeneIDi
9897

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9897

UCSC genome browser

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UCSCi
uc003yrt.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 32 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, 18 interactors
STRINGi9606.ENSP00000318016

PTM databases

iPTMnetiQ12768
PhosphoSitePlusiQ12768

Polymorphism and mutation databases

BioMutaiWASHC5
DMDMi2495719

Proteomic databases

EPDiQ12768
jPOSTiQ12768
MaxQBiQ12768
PaxDbiQ12768
PeptideAtlasiQ12768
PRIDEiQ12768
ProteomicsDBi58911

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9897
DisGeNETi9897
EuPathDBiHostDB:ENSG00000164961.15

GeneCards: human genes, protein and diseases

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GeneCardsi
WASHC5
GeneReviewsiWASHC5
HGNCiHGNC:28984 WASHC5
HPAiCAB034216
CAB034219
HPA064649
HPA070916
MalaCardsiWASHC5
MIMi220210 phenotype
603563 phenotype
610657 gene
neXtProtiNX_Q12768
OpenTargetsiENSG00000164961
Orphaneti7 3C syndrome
100989 Autosomal dominant spastic paraplegia type 8
PharmGKBiPA142671624

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3666 Eukaryota
ENOG410XNSS LUCA
GeneTreeiENSGT00390000011137
HOGENOMiHOG000258245
HOVERGENiHBG102793
InParanoidiQ12768
KOiK18464
OMAiQSIHHYA
OrthoDBi88928at2759
PhylomeDBiQ12768
TreeFamiTF314480

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KIAA0196

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9897

Protein Ontology

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PROi
PR:Q12768

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164961 Expressed in 220 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ12768 baseline and differential
GenevisibleiQ12768 HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWASC5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12768
Secondary accession number(s): A8K4R7, Q3KQX5, Q8TBQ2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: February 13, 2019
This is version 140 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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