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Aliases for WASHC1 Gene

Aliases for WASHC1 Gene

  • WASH Complex Subunit 1 2 3
  • WAS Protein Family Homolog 1 2 3 5
  • WASH1 3 4 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 WASHC1 Gene

Previous HGNC Symbols for WASHC1 Gene

  • FAM39E
  • WASH1

Summaries for WASHC1 Gene

GeneCards Summary for WASHC1 Gene

WASHC1 (WASH Complex Subunit 1) is a Protein Coding gene. Among its related pathways are Endocytosis. An important paralog of this gene is LOC102723897.

UniProtKB/Swiss-Prot for WASHC1 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 WASHC1 Gene

Genomics for WASHC1 Gene

Regulatory Elements for WASHC1 Gene

Enhancers for WASHC1 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
GH09F000112 1 FANTOM5 Ensembl 9 -83.8 -83764 2.8 SUZ12 BMI1 ZIC2 ZNF335 ZNF366 ZSCAN29 PRDM10 EZH2 RNF2 L3MBTL2 CBWD1 WASHC1 FOXD4 GC09P000118 LINC01388 PIR36916
GH09F000270 1.4 FANTOM5 ENCODE 6.4 -242.6 -242616 5.4 PKNOX1 ATF1 ARNT YY1 ELK1 CBX5 ZNF143 FOS JUNB TBX21 DOCK8 C9orf66 CBWD1 LOC105375946 WASHC1 FOXD4 GC09P000245
GH09F000276 1.5 FANTOM5 Ensembl ENCODE 5.1 -249.0 -249049 6.6 CTCF PKNOX1 FEZF1 GATA2 ZNF366 PATZ1 ZNF600 PRDM10 ZNF263 MAZ DOCK8 RPL12P25 C9orf66 CBWD1 LOC105375946 WASHC1 GC09M000242
GH09F000062 0.8 Ensembl ENCODE 5.6 -32.9 -32915 1.6 ZNF316 L3MBTL2 MAFG MAFK EMSY MGA WASHC1 GC09P000065 GC09P000057
GH09F000307 0.7 ENCODE 6.4 -276.6 -276649 0.2 CTCF NR2F1 MAFG REST PPARG RAD21 NR2F2 ZNF316 POLR2A GATA2 WASHC1 GC09M000242 GC09P000333
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASHC1 on UCSC Golden Path with GeneCards custom track

Promoters for WASHC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001906828 1287 1601

Genomic Location for WASHC1 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 WASHC1 Gene

Genes around WASHC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASHC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASHC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASHC1 Gene

Proteins for WASHC1 Gene

  • Protein details for WASHC1 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for WASHC1 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 WASHC1 Gene

Post-translational modifications for WASHC1 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for WASHC1 Gene

Domains & Families for WASHC1 Gene

Protein Domains for WASHC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASHC1 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 WASHC1: view

Function for WASHC1 Gene

Molecular function for WASHC1 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 WASHC1 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 IEA,IDA 19922874
genes like me logo Genes that share ontologies with WASHC1: view
genes like me logo Genes that share phenotypes with WASHC1: view

Animal Models for WASHC1 Gene

MGI Knock Outs for WASHC1:

Animal Model 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 WASHC1 Gene

Localization for WASHC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASHC1 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 WASHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 colocalizes_with exocyst IDA 24344185
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,ISS --
GO:0005770 late endosome IEA --
genes like me logo Genes that share ontologies with WASHC1: view

No data available for Subcellular locations from COMPARTMENTS for WASHC1 Gene

Pathways & Interactions for WASHC1 Gene

SuperPathways for WASHC1 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with WASHC1: view

Pathways by source for WASHC1 Gene

1 KEGG pathway for WASHC1 Gene

Gene Ontology (GO) - Biological Process for WASHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006887 exocytosis IMP 24344185
GO:0010507 negative regulation of autophagy ISS --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport ISS --
genes like me logo Genes that share ontologies with WASHC1: view

No data available for SIGNOR curated interactions for WASHC1 Gene

Transcripts for WASHC1 Gene

mRNA/cDNA for WASHC1 Gene

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

Unigene Clusters for WASHC1 Gene

WAS protein family homolog 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASHC1 Gene

No ASD Table

Relevant External Links for WASHC1 Gene

GeneLoc Exon Structure for
WASHC1
ECgene alternative splicing isoforms for
WASHC1

Expression for WASHC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WASHC1 Gene:

WASHC1

SOURCE GeneReport for Unigene cluster for WASHC1 Gene:

Hs.461200
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for WASHC1 Gene

Orthologs for WASHC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASHC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WASH1 34
  • 98.21 (n)
dog
(Canis familiaris)
Mammalia WASH1 34
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia WASH1 34
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Wash 34
  • 80.75 (n)
Wash1 16
rat
(Rattus norvegicus)
Mammalia Wash 34
  • 80.1 (n)
chicken
(Gallus gallus)
Aves WASH1 34
  • 72.9 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia wash1 34
  • 67.26 (n)
zebrafish
(Danio rerio)
Actinopterygii wash 34
  • 67.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010756 34
  • 46.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta wash 34
  • 42.69 (n)
Species where no ortholog for WASHC1 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 WASHC1 Gene

ENSEMBL:
Gene Tree for WASHC1 (if available)
TreeFam:
Gene Tree for WASHC1 (if available)

Paralogs for WASHC1 Gene

Paralogs for WASHC1 Gene

Pseudogenes.org Pseudogenes for WASHC1 Gene

genes like me logo Genes that share paralogs with WASHC1: view

Variants for WASHC1 Gene

Sequence variations from dbSNP and Humsavar for WASHC1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1052106 -- 28,687(+) GTATT(A/C)TTTAA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111496238 -- 25,294(+) CCCTA(A/C)AAGGT intron-variant, upstream-variant-2KB
rs112513970 -- 28,695(+) TAATA(A/C)TGGTG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs112598802 -- 28,204(+) ATACT(C/T)TGTCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs112689660 -- 15,632(+) TCTTG(A/G)CAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WASHC1 Gene

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

Relevant External Links for WASHC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASHC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for WASHC1 Gene

Disorders for WASHC1 Gene

Relevant External Links for WASHC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASHC1

No disorders were found for WASHC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WASHC1 Gene

Publications for WASHC1 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 64
  2. Regulation of WASH-dependent actin polymerization and protein trafficking by ubiquitination. (PMID: 23452853) Hao Y.H. … Potts P.R. (Cell 2013) 3 4 64
  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 64
  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 64
  5. A FAM21-containing WASH complex regulates retromer-dependent sorting. (PMID: 19922874) Gomez T.S. … Billadeau D.D. (Dev. Cell 2009) 3 4 64

Products for WASHC1 Gene

Sources for WASHC1 Gene

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