Seroatlas · Human Serome Atlas

WASF1

Actin-binding protein WASF1

Also known as: KIAA0269, SCAR1, WASF1_HUMAN, WAVE, WAVE1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q92558
Gene
WASF1
Ensembl
ENSG00000112290
Chromosome
6
Canonical length
559 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

559 residues, UniProt reviewed canonical sequence.

>Q92558|WASF1
     1  MPLVKRNIDP RHLCHTALPR GIKNELECVT NISLANIIRQ LSSLSKYAED IFGELFNEAH
    61  SFSFRVNSLQ ERVDRLSVSV TQLDPKEEEL SLQDITMRKA FRSSTIQDQQ LFDRKTLPIP
   121  LQETYDVCEQ PPPLNILTPY RDDGKEGLKF YTNPSYFFDL WKEKMLQDTE DKRKEKRKQK
   181  QKNLDRPHEP EKVPRAPHDR RREWQKLAQG PELAEDDANL LHKHIEVANG PASHFETRPQ
   241  TYVDHMDGSY SLSALPFSQM SELLTRAEER VLVRPHEPPP PPPMHGAGDA KPIPTCISSA
   301  TGLIENRPQS PATGRTPVFV SPTPPPPPPP LPSALSTSSL RASMTSTPPP PVPPPPPPPA
   361  TALQAPAVPP PPAPLQIAPG VLHPAPPPIA PPLVQPSPPV ARAAPVCETV PVHPLPQGEV
   421  QGLPPPPPPP PLPPPGIRPS SPVTVTALAH PPSGLHPTPS TAPGPHVPLM PPSPPSQVIP
   481  ASEPKRHPST LPVISDARSV LLEAIRKGIQ LRKVEEQREQ EAKHERIEND VATILSRRIA
   541  VEYSDSEDDS EFDEVDWLE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WASF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.62
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 99 nTPM
  • hippocampal formation: 92 nTPM
  • basal ganglia: 89 nTPM
  • testis: 73 nTPM
  • cerebellum: 48 nTPM
  • amygdala: 48 nTPM

Single-cell type

  • late spermatids: 871 nCPM
  • brain inhibitory neurons: 216 nCPM
  • early spermatids: 213 nCPM
  • brain excitatory neurons: 210 nCPM
  • late primary spermatocytes: 150 nCPM
  • oligodendrocytes: 135 nCPM

Immune cell

  • plasmacytoid DC: 8.4 nTPM
  • naive B-cell: 4.2 nTPM
  • memory B-cell: 3.3 nTPM
  • classical monocyte: 0.6 nTPM
  • myeloid DC: 0.6 nTPM
  • NK-cell: 0.6 nTPM

Brain region

  • cerebral cortex: 187 nTPM
  • hippocampal formation: 182 nTPM
  • white matter: 130 nTPM
  • basal ganglia: 126 nTPM
  • amygdala: 89 nTPM
  • cerebellum: 68 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WASF1.

Disease | AllUniProt

Conditions WASF1 is implicated in, by any mechanism.

  • Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) MIM:618707

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.22
gnomAD pLI
1
gnomAD missense Z
2.55
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WASF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WASF1 as an antibody target. Whether an autoantibody or antibody against WASF1 could matter depends on whether native WASF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WASF1 is annotated at the cell surface, where native WASF1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label WASF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/WASF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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