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Aliases for WASH1 Gene

Aliases for WASH1 Gene

  • WAS Protein Family Homolog 1 2 3 5
  • Family With Sequence Similarity 39, Member E 2 3
  • CXYorf1-Like Protein On Chromosome 9 3 4
  • FAM39E 3 4
  • FLJ00075 Protein 3
  • Protein FAM39E 4
  • WASH 3

External Ids for WASH1 Gene

Previous HGNC Symbols for WASH1 Gene

  • FAM39E

Previous GeneCards Identifiers for WASH1 Gene

  • GC0YP057765
  • GC09M000008

Summaries for WASH1 Gene

GeneCards Summary for WASH1 Gene

WASH1 (WAS Protein Family Homolog 1) is a Protein Coding gene. Diseases associated with WASH1 include Wiskott-Aldrich Syndrome. Among its related pathways are Endocytosis. GO annotations related to this gene include actin binding and alpha-tubulin binding. An important paralog of this gene is LOC102723897.

UniProtKB/Swiss-Prot for WASH1 Gene

  • Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922874, PubMed:19922875, PubMed:20498093, PubMed:23452853). Its assembly in the WASH core complex seems to inhibit its NPF activity and via FAM21 is required for its membrane targeting (PubMed:20498093). Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (PubMed:22114305). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation (By similarity). Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (PubMed:24344185). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASH1 Gene

Genomics for WASH1 Gene

Regulatory Elements for WASH1 Gene

Enhancers for WASH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around WASH1 on UCSC Golden Path with GeneCards custom track

Promoters for WASH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WASH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WASH1 Gene

Chromosome:
9
Start:
14,511 bp from pter
End:
30,487 bp from pter
Size:
15,977 bases
Orientation:
Minus strand

Genomic View for WASH1 Gene

Genes around WASH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASH1 Gene

Proteins for WASH1 Gene

  • Protein details for WASH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K0Z3-WASH1_HUMAN
    Recommended name:
    WAS protein family homolog 1
    Protein Accession:
    A8K0Z3

    Protein attributes for WASH1 Gene

    Size:
    465 amino acids
    Molecular mass:
    50328 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21 (FAM21A or FAM21C), 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 (PubMed:19922875, PubMed:20498093). Interacts (via WHD1 region) with FAM21C; the interaction is direct (PubMed:19922874). Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with alpha-tubulin. Interacts with BECN1; WASH1 and AMBRA1 can competetively interact with BECN1. Interacts with BLOC1S2; may associate with the BLOC-1 complex. Interacts with tubulin gamma chain (TUBG1 or TUBG2) (By similarity). Interacts with EXOC1, EXOC4, EXOC8; in MMP14-positive endosomes in breast tumor cells; indicative for an association with the exocyst complex (PubMed:24344185).
    Miscellaneous:
    • WASH genes duplicated to multiple chromosomal ends during primate evolution, with highest copy number reached in humans, whose WASH repertoires probably vary extensively among individuals (PubMed:18159949). It is therefore difficult to determine which gene is functional or not. The telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q. Paralogous regions contain 7 transcriptional units. Duplicated WASH genes are also present in the Xq/Yq pseudoautosomal region, as well as on chromosome 1 and 15. The chromosome 16 copy seems to be a pseudogene.

neXtProt entry for WASH1 Gene

Post-translational modifications for WASH1 Gene

  • Ubiquitinated at Lys-220 via Lys-63-linked ubiquitin chains by the TRIM27:MAGEL2 E3 ubiquitin ligase complex, leading to promote endosomal F-actin assembly.
  • Ubiquitination at Lys 220
  • Modification sites at PhosphoSitePlus

Other Protein References for WASH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WASH1 Gene

Domains & Families for WASH1 Gene

Gene Families for WASH1 Gene

Protein Domains for WASH1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8K0Z3

UniProtKB/Swiss-Prot:

WASH1_HUMAN :
  • The VCA (verprolin, cofilin, acidic) domain promotes actin polymerization by the Arp2/3 complex in vitro.
  • Belongs to the WASH1 family.
Domain:
  • The VCA (verprolin, cofilin, acidic) domain promotes actin polymerization by the Arp2/3 complex in vitro.
  • Contains 1 WH2 domain.
Family:
  • Belongs to the WASH1 family.
genes like me logo Genes that share domains with WASH1: view

Function for WASH1 Gene

Molecular function for WASH1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922874, PubMed:19922875, PubMed:20498093, PubMed:23452853). Its assembly in the WASH core complex seems to inhibit its NPF activity and via FAM21 is required for its membrane targeting (PubMed:20498093). Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (PubMed:22114305). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation (By similarity). Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (PubMed:24344185). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).

Gene Ontology (GO) - Molecular Function for WASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 19922874
GO:0031625 ubiquitin protein ligase binding IPI 23452853
GO:0043014 alpha-tubulin binding IDA 19922874
genes like me logo Genes that share ontologies with WASH1: view
genes like me logo Genes that share phenotypes with WASH1: view

Animal Models for WASH1 Gene

MGI Knock Outs for WASH1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for WASH1 Gene

Localization for WASH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASH1 Gene

Early endosome membrane. Recycling endosome membrane. Late endosome. Cytoplasmic vesicle, autophagosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the endosome membrane is mediated via its interaction with FAM21 (PubMed:19922874). Localizes to MMP14-positive late endosomes and transiently to invadipodia (PubMed:24344185). Localized to Salmonella typhimurium entry sites (By similarity). {ECO:0000250 UniProtKB:Q8VDD8, ECO:0000269 PubMed:19922874, ECO:0000269 PubMed:24344185}.

Gene Ontology (GO) - Cellular Components for WASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 colocalizes_with exocyst IDA 24344185
GO:0005769 early endosome ISS --
GO:0005770 late endosome IEA --
GO:0005776 autophagosome IEA --
GO:0005814 centriole IEA --
genes like me logo Genes that share ontologies with WASH1: view

No data available for Subcellular locations from COMPARTMENTS for WASH1 Gene

Pathways & Interactions for WASH1 Gene

SuperPathways for WASH1 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASH1: view

Pathways by source for WASH1 Gene

1 KEGG pathway for WASH1 Gene

Gene Ontology (GO) - Biological Process for WASH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IMP 24344185
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport ISS --
GO:0022617 extracellular matrix disassembly IMP 24344185
GO:0030335 positive regulation of cell migration IMP 22114305
genes like me logo Genes that share ontologies with WASH1: view

No data available for SIGNOR curated interactions for WASH1 Gene

Drugs & Compounds for WASH1 Gene

No Compound Related Data Available

Transcripts for WASH1 Gene

mRNA/cDNA for WASH1 Gene

(15) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WASH1 Gene

WAS protein family homolog 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASH1 Gene

No ASD Table

Relevant External Links for WASH1 Gene

GeneLoc Exon Structure for
WASH1
ECgene alternative splicing isoforms for
WASH1

Expression for WASH1 Gene

mRNA expression in normal human tissues for WASH1 Gene

mRNA expression in normal human tissues for WASH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WASH1 Gene

This gene is overexpressed in Pancreas (25.0), Bone (18.8), Peripheral blood mononuclear cells (18.2), and Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WASH1 Gene



Protein tissue co-expression partners for WASH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WASH1 Gene:

WASH1

SOURCE GeneReport for Unigene cluster for WASH1 Gene:

Hs.461200
genes like me logo Genes that share expression patterns with WASH1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WASH1 Gene

Orthologs for WASH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WASH1 34
  • 86.21 (n)
  • 88.58 (a)
dog
(Canis familiaris)
Mammalia WASH1 34
  • 87.24 (n)
  • 89.25 (a)
mouse
(Mus musculus)
Mammalia Wash 34
  • 80.75 (n)
  • 82.11 (a)
Wash1 16
chimpanzee
(Pan troglodytes)
Mammalia WASH1 34
  • 98.21 (n)
  • 96.77 (a)
rat
(Rattus norvegicus)
Mammalia Wash 34
  • 80.1 (n)
  • 82.11 (a)
chicken
(Gallus gallus)
Aves WASH1 34
  • 72.9 (n)
  • 76.56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wash1 34
  • 67.26 (n)
  • 71.08 (a)
zebrafish
(Danio rerio)
Actinopterygii wash 34
  • 67.17 (n)
  • 66.59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010756 34
  • 46.28 (n)
  • 31.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta wash 34
  • 42.69 (n)
  • 33.58 (a)
Species where no ortholog for WASH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WASH1 Gene

ENSEMBL:
Gene Tree for WASH1 (if available)
TreeFam:
Gene Tree for WASH1 (if available)

Paralogs for WASH1 Gene

Paralogs for WASH1 Gene

(8) SIMAP similar genes for WASH1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with WASH1: view

Variants for WASH1 Gene

Sequence variations from dbSNP and Humsavar for WASH1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs448242 -- 31,849(-) GCTTC(C/T)GTGTC upstream-variant-2KB
rs8179366 -- 21,027(+) AGAGC(A/C)GGAGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs9777085 -- 30,818(+) gaacc(C/T)gtcca upstream-variant-2KB
rs201554293 -- 31,077(+) CAGGG(A/C)TCTGC upstream-variant-2KB
rs201592317 -- 20,356(+) TCAGC(A/C)GGATT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for WASH1 Gene

Variant ID Type Subtype PubMed ID
dgv3939n106 CNV duplication 24896259
dgv4273e59 CNV duplication 20981092
esv1199599 CNV deletion 17803354
esv1391017 CNV deletion 17803354
esv23366 CNV gain+loss 19812545
esv3446057 CNV duplication 20981092
esv989554 CNV insertion 20482838
nsv1078054 CNV duplication 25765185
nsv1078623 CNV duplication 25765185
nsv1151519 CNV duplication 26484159
nsv471464 CNV gain 19718026
nsv482128 CNV gain 20164927
nsv8400 CNV gain+loss 18304495
nsv982187 CNV duplication 23825009
nsv982355 CNV duplication 23825009
nsv982356 CNV duplication 23825009
nsv982357 CNV duplication 23825009

Relevant External Links for WASH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for WASH1 Gene

Disorders for WASH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WASH1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
- elite association - COSMIC cancer census association via MalaCards
Search WASH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for WASH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASH1
genes like me logo Genes that share disorders with WASH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASH1 Gene

Publications for WASH1 Gene

  1. Human subtelomeric WASH genes encode a new subclass of the WASP family. (PMID: 18159949) Linardopoulou E.V. … Trask B.J. (PLoS Genet. 2007) 2 3 4 65
  2. Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PMID: 23452853) Hao Y.H. … Potts P.R. (Cell 2013) 3 4 65
  3. Endosomal WASH and exocyst complexes control exocytosis of MT1-MMP at invadopodia. (PMID: 24344185) Monteiro P. … Chavrier P. (J. Cell Biol. 2013) 3 4 65
  4. The Arp2/3 activator WASH regulates I+5I^1-integrin-mediated invasive migration. (PMID: 22114305) Zech T. … Machesky L.M. (J. Cell. Sci. 2011) 3 4 65
  5. A FAM21-containing WASH complex regulates retromer-dependent sorting. (PMID: 19922874) Gomez T.S. … Billadeau D.D. (Dev. Cell 2009) 3 4 65

Products for WASH1 Gene

Sources for WASH1 Gene

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