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UniProtKB - Q92558 (WASF1_HUMAN)

Entry version 183 (25 May 2022)
Sequence version 1 (01 Feb 1997)
Previous versions | rss
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Protein

Wiskott-Aldrich syndrome protein family member 1

Gene

WASF1

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

Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation (PubMed:29961568).

The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity).

As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Also involved in the regulation of mitochondrial dynamics (PubMed:29961568).

By similarity2 Publications

<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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionActin-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92558

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097, VEGFA-VEGFR2 Pathway
R-HSA-5663213, RHO GTPases Activate WASPs and WAVEs
R-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013423, RAC3 GTPase cycle
R-HSA-9664422, FCGR3A-mediated phagocytosis

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q92558

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92558

<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%5Fand%5Ftaxonomy%5Fsection">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:
Wiskott-Aldrich syndrome protein family member 1Curated
Short name:
WASP family protein member 1
Alternative name(s):
Protein WAVE-1
Verprolin homology domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:WASF1Imported
Synonyms:KIAA0269, SCAR1, WAVE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12732, WASF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605035, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92558

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000112290

<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

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton, Synapse

<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

Neurodevelopmental disorder with absent language and variable seizures (NEDALVS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by neurodevelopmental abnormalities, including moderate to profound intellectual disability, with autistic features, seizures, severe impairments in speech, and gross motor delay.
Related information in OMIM
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_083471506 – 559Missing in NEDALVS; expression of a truncated and unstable protein; altered actin organization and longer mitochondria. 1 PublicationAdd BLAST54
Natural variantiVAR_083472520 – 559Missing in NEDALVS. 1 PublicationAdd BLAST40

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		8936

MalaCards human disease database

More...MalaCardsi		WASF1
MIMi618707, phenotype

Open Targets

More...OpenTargetsi		ENSG00000112290

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

More...Orphaneti		528084, Non-specific syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37343

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92558, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WASF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		2495730

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001889921 – 559Wiskott-Aldrich syndrome protein family member 1Add BLAST559

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 residuei341Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei341Omega-N-methylarginine; alternateBy similarity1
Modified residuei489PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues by ABL1 and dephosphorylated by PTPN12.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q92558

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92558

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92558

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92558

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

More...PaxDbi		Q92558

PeptideAtlas

More...PeptideAtlasi		Q92558

PRoteomics IDEntifications database

More...PRIDEi		Q92558

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75315

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q92558, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92558

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

More...PhosphoSitePlusi		Q92558

<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

Highly expressed in brain. Lowly expressed in testis, ovary, colon, kidney, pancreas, thymus, small intestine and peripheral blood.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112290, Expressed in cerebral cortex and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92558, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92558, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112290, Tissue enhanced (brain, testis)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1. Binds actin and the Arp2/3 complex.

Interacts with BAIAP2.

Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex.

Interacts with ABI1 (via N-terminus).

Interacts with SORBS2; this interaction greatly enhances phosphorylation by ABL1 and dephosphorylation by PTPN12 and might mediate partial to focal adhesion sites.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114449, 103 interactors

Database of interacting proteins

More...DIPi		DIP-39391N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q92558

Protein interaction database and analysis system

More...IntActi		Q92558, 52 interactors

Molecular INTeraction database

More...MINTi		Q92558

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376368

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92558, protein

<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

Secondary structure

1559
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q92558

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q92558

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q92558

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini497 – 514WH2PROSITE-ProRule annotationAdd BLAST18

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni170 – 202DisorderedSequence analysisAdd BLAST33
Regioni304 – 400DisorderedSequence analysisAdd BLAST97
Regioni412 – 491DisorderedSequence analysisAdd BLAST80

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi318 – 334Pro residuesSequence analysisAdd BLAST17
Compositional biasi346 – 399Pro residuesSequence analysisAdd BLAST54
Compositional biasi418 – 440Pro residuesSequence analysisAdd BLAST23
Compositional biasi456 – 481Pro residuesSequence analysisAdd BLAST26

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.1 Publication

<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 SCAR/WAVE family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1830, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182962

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_036022_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92558

Identification of Orthologs from Complete Genome Data

More...OMAi		XPQTYVD

Database of Orthologous Groups

More...OrthoDBi		1183697at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92558

TreeFam database of animal gene trees

More...TreeFami		TF315031

Family and domain databases

Database of protein disorder

More...DisProti		DP02529

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028288, SCAR/WAVE_fam
IPR003124, WH2_dom

The PANTHER Classification System

More...PANTHERi		PTHR12902, PTHR12902, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02205, WH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00246, WH2, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51082, WH2, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 potential isoforms that are computationally mapped.Show allAlign All

Q92558-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPLVKRNIDP RHLCHTALPR GIKNELECVT NISLANIIRQ LSSLSKYAED 
        60         70         80         90        100
IFGELFNEAH SFSFRVNSLQ ERVDRLSVSV TQLDPKEEEL SLQDITMRKA 
       110        120        130        140        150
FRSSTIQDQQ LFDRKTLPIP LQETYDVCEQ PPPLNILTPY RDDGKEGLKF 
       160        170        180        190        200
YTNPSYFFDL WKEKMLQDTE DKRKEKRKQK QKNLDRPHEP EKVPRAPHDR 
       210        220        230        240        250
RREWQKLAQG PELAEDDANL LHKHIEVANG PASHFETRPQ TYVDHMDGSY 
       260        270        280        290        300
SLSALPFSQM SELLTRAEER VLVRPHEPPP PPPMHGAGDA KPIPTCISSA 
       310        320        330        340        350
TGLIENRPQS PATGRTPVFV SPTPPPPPPP LPSALSTSSL RASMTSTPPP 
       360        370        380        390        400
PVPPPPPPPA TALQAPAVPP PPAPLQIAPG VLHPAPPPIA PPLVQPSPPV 
       410        420        430        440        450
ARAAPVCETV PVHPLPQGEV QGLPPPPPPP PLPPPGIRPS SPVTVTALAH 
       460        470        480        490        500
PPSGLHPTPS TAPGPHVPLM PPSPPSQVIP ASEPKRHPST LPVISDARSV 
       510        520        530        540        550
LLEAIRKGIQ LRKVEEQREQ EAKHERIEND VATILSRRIA VEYSDSEDDS 

EFDEVDWLE
Length:559
Mass (Da):61,652
Last modified:February 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:i44B4527BDB77BC6E
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SZK5Q5SZK5_HUMAN
Wiskott-Aldrich syndrome protein fa...
WASF1
180Annotation 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>
Q5SZK3Q5SZK3_HUMAN
Wiskott-Aldrich syndrome protein fa...
WASF1
89Annotation 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>
Q5SZK4Q5SZK4_HUMAN
Wiskott-Aldrich syndrome protein fa...
WASF1
140Annotation 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 BAA13399 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083471506 – 559Missing in NEDALVS; expression of a truncated and unstable protein; altered actin organization and longer mitochondria. 1 PublicationAdd BLAST54
Natural variantiVAR_083472520 – 559Missing in NEDALVS. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF134303 mRNA Translation: AAD33052.1
D87459 mRNA Translation: BAA13399.2 Different initiation.
AL590009 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48325.1
CH471051 Genomic DNA Translation: EAW48326.1
CH471051 Genomic DNA Translation: EAW48327.1
CH471051 Genomic DNA Translation: EAW48328.1
CH471051 Genomic DNA Translation: EAW48329.1
BC044591 mRNA Translation: AAH44591.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5080.1

NCBI Reference Sequences

More...RefSeqi		NP_001020105.1, NM_001024934.1
NP_001020106.1, NM_001024935.1
NP_001020107.1, NM_001024936.1
NP_003922.1, NM_003931.2
XP_005267260.1, XM_005267203.3
XP_005267262.1, XM_005267205.2
XP_005267263.1, XM_005267206.2
XP_005267264.1, XM_005267207.2
XP_011534535.1, XM_011536233.1
XP_011534536.1, XM_011536234.1
XP_016866926.1, XM_017011437.1
XP_016866927.1, XM_017011438.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359451.6; ENSP00000352425.2; ENSG00000112290.13
ENST00000392586.5; ENSP00000376365.1; ENSG00000112290.13
ENST00000392587.6; ENSP00000376366.2; ENSG00000112290.13
ENST00000392588.5; ENSP00000376367.1; ENSG00000112290.13
ENST00000392589.6; ENSP00000376368.1; ENSG00000112290.13

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8936

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8936

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000392589.6; ENSP00000376368.1; NM_003931.3; NP_003922.1

UCSC genome browser

More...UCSCi		uc003ptv.1, 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
AF134303 mRNA Translation: AAD33052.1
D87459 mRNA Translation: BAA13399.2 Different initiation.
AL590009 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48325.1
CH471051 Genomic DNA Translation: EAW48326.1
CH471051 Genomic DNA Translation: EAW48327.1
CH471051 Genomic DNA Translation: EAW48328.1
CH471051 Genomic DNA Translation: EAW48329.1
BC044591 mRNA Translation: AAH44591.1
CCDSiCCDS5080.1
RefSeqiNP_001020105.1, NM_001024934.1
NP_001020106.1, NM_001024935.1
NP_001020107.1, NM_001024936.1
NP_003922.1, NM_003931.2
XP_005267260.1, XM_005267203.3
XP_005267262.1, XM_005267205.2
XP_005267263.1, XM_005267206.2
XP_005267264.1, XM_005267207.2
XP_011534535.1, XM_011536233.1
XP_011534536.1, XM_011536234.1
XP_016866926.1, XM_017011437.1
XP_016866927.1, XM_017011438.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3P8CX-ray2.29D1-186[»]
D485-559[»]
4N78X-ray2.43D1-559[»]
AlphaFoldDBiQ92558
SMRiQ92558
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114449, 103 interactors
DIPiDIP-39391N
ELMiQ92558
IntActiQ92558, 52 interactors
MINTiQ92558
STRINGi9606.ENSP00000376368

PTM databases

GlyGeniQ92558, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ92558
PhosphoSitePlusiQ92558

Genetic variation databases

BioMutaiWASF1
DMDMi2495730

Proteomic databases

EPDiQ92558
jPOSTiQ92558
MassIVEiQ92558
MaxQBiQ92558
PaxDbiQ92558
PeptideAtlasiQ92558
PRIDEiQ92558
ProteomicsDBi75315

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q92558, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1180, 337 antibodies from 39 providers

The DNASU plasmid repository

More...DNASUi		8936

Genome annotation databases

EnsembliENST00000359451.6; ENSP00000352425.2; ENSG00000112290.13
ENST00000392586.5; ENSP00000376365.1; ENSG00000112290.13
ENST00000392587.6; ENSP00000376366.2; ENSG00000112290.13
ENST00000392588.5; ENSP00000376367.1; ENSG00000112290.13
ENST00000392589.6; ENSP00000376368.1; ENSG00000112290.13
GeneIDi8936
KEGGihsa:8936
MANE-SelectiENST00000392589.6; ENSP00000376368.1; NM_003931.3; NP_003922.1
UCSCiuc003ptv.1, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8936
DisGeNETi8936

GeneCards: human genes, protein and diseases

More...GeneCardsi		WASF1
HGNCiHGNC:12732, WASF1
HPAiENSG00000112290, Tissue enhanced (brain, testis)
MalaCardsiWASF1
MIMi605035, gene
618707, phenotype
neXtProtiNX_Q92558
OpenTargetsiENSG00000112290
Orphaneti528084, Non-specific syndromic intellectual disability
PharmGKBiPA37343
VEuPathDBiHostDB:ENSG00000112290

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1830, Eukaryota
GeneTreeiENSGT00950000182962
HOGENOMiCLU_036022_2_0_1
InParanoidiQ92558
OMAiXPQTYVD
OrthoDBi1183697at2759
PhylomeDBiQ92558
TreeFamiTF315031

Enzyme and pathway databases

PathwayCommonsiQ92558
ReactomeiR-HSA-2029482, Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097, VEGFA-VEGFR2 Pathway
R-HSA-5663213, RHO GTPases Activate WASPs and WAVEs
R-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013423, RAC3 GTPase cycle
R-HSA-9664422, FCGR3A-mediated phagocytosis
SignaLinkiQ92558
SIGNORiQ92558

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8936, 10 hits in 1079 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		WASF1, human
EvolutionaryTraceiQ92558

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		WASF1

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

More...GenomeRNAii		8936
PharosiQ92558, Tbio

Protein Ontology

More...PROi		PR:Q92558
RNActiQ92558, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112290, Expressed in cerebral cortex and 223 other tissues
ExpressionAtlasiQ92558, baseline and differential
GenevisibleiQ92558, HS

Family and domain databases

DisProtiDP02529
InterProiView protein in InterPro
IPR028288, SCAR/WAVE_fam
IPR003124, WH2_dom
PANTHERiPTHR12902, PTHR12902, 1 hit
PfamiView protein in Pfam
PF02205, WH2, 1 hit
SMARTiView protein in SMART
SM00246, WH2, 1 hit
PROSITEiView protein in PROSITE
PS51082, WH2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiWASF1_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: Q92558
Secondary accession number(s): E1P5F2, Q5SZK7
<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%5Fand%5Fisoforms">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: February 1, 1997
Last modified: May 25, 2022
This is version 183 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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