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Aliases for WASH3P Gene

Aliases for WASH3P Gene

  • WAS Protein Family Homolog 3 Pseudogene 2 3 5
  • Family With Sequence Similarity 39, Member D Pseudogene 2 3
  • FAM39DP 3 4
  • Protein FAM39DP 4

External Ids for WASH3P Gene

Previous HGNC Symbols for WASH3P Gene

  • FAM39DP

Previous GeneCards Identifiers for WASH3P Gene

  • GC15P100321
  • GC15U900980
  • GC15P102501

Summaries for WASH3P Gene

GeneCards Summary for WASH3P Gene

WASH3P (WAS Protein Family Homolog 3 Pseudogene) is a Pseudogene. Diseases associated with WASH3P include Wiskott-Aldrich Syndrome. GO annotations related to this gene include actin binding and alpha-tubulin binding.

UniProtKB/Swiss-Prot for WASH3P Gene

  • Acts as a nucleation-promoting factor 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:18159949, PubMed:20175130). Involved in endocytic trafficking of EGF (PubMed:20175130). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (By similarity). 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. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling (By similarity). 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 (By similarity). 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASH3P Gene

Genomics for WASH3P Gene

Regulatory Elements for WASH3P Gene

Enhancers for WASH3P 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
GH15G101248 1.2 Ensembl ENCODE dbSUPER 5.2 -712.4 -712413 0.4 PKNOX1 NFIB ZHX2 FEZF1 DPF2 RAD21 TBX21 ZNF217 MBD2 CTBP1 WASH3P CHSY1 GC15M101231
GH15G101249 1.3 ENCODE dbSUPER 4.5 -709.2 -709237 3.5 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 WASH3P CHSY1 GC15M101231
GH15G101813 0.6 ENCODE 6.4 -146.6 -146638 1.7 ZNF316 MAFG NFE2L1 FOS NFE2 MAFK NFE2L2 LOC100128108 WASH3P TARSL2 OR4F15 OR4F6
GH15G101807 0.5 ENCODE 6.2 -152.8 -152794 1.8 ZSCAN5C REST FOS MAFK NFE2L2 LOC100128108 WASH3P OR4F6 OR4F15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WASH3P on UCSC Golden Path with GeneCards custom track

Promoters for WASH3P Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082102 987 1601 RB1 POLR2A MTA2 ZNF143 MLLT1 ZBTB40

Genomic Location for WASH3P Gene

Chromosome:
15
Start:
101,960,813 bp from pter
End:
101,976,605 bp from pter
Size:
15,793 bases
Orientation:
Plus strand

Genomic View for WASH3P Gene

Genes around WASH3P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASH3P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASH3P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASH3P Gene

Proteins for WASH3P Gene

  • Protein details for WASH3P Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C4AMC7-WASH3_HUMAN
    Recommended name:
    Putative WAS protein family homolog 3
    Protein Accession:
    C4AMC7

    Protein attributes for WASH3P Gene

    Size:
    463 amino acids
    Molecular mass:
    49995 Da
    Quaternary structure:
    • 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 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:20498093). Interacts (via WHD1 region) with WASHC2C; the interaction is direct (By similarity). Interacts with alpha-tubulin. Interacts with BECN1; WASHC1 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). Interacts with EXOC1, EXOC4, EXOC8; in MMP14-positive endosomes in breast tumor cells; indicative for an association with the exocyst complex (By similarity).
    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 WASH3P Gene

Post-translational modifications for WASH3P Gene

No Post-translational modifications

No data available for DME Specific Peptides for WASH3P Gene

Domains & Families for WASH3P Gene

Gene Families for WASH3P Gene

Protein Domains for WASH3P Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASH3P Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

C4AMC7

UniProtKB/Swiss-Prot:

WASH3_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.
Family:
  • Belongs to the WASH1 family.
genes like me logo Genes that share domains with WASH3P: view

Function for WASH3P Gene

Molecular function for WASH3P Gene

UniProtKB/Swiss-Prot Function:
Acts as a nucleation-promoting factor 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:18159949, PubMed:20175130). Involved in endocytic trafficking of EGF (PubMed:20175130). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (By similarity). 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. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling (By similarity). 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 (By similarity). 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 WASH3P Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0043014 alpha-tubulin binding ISS --
genes like me logo Genes that share ontologies with WASH3P: view

Phenotypes for WASH3P Gene

GenomeRNAi human phenotypes for WASH3P:
genes like me logo Genes that share phenotypes with WASH3P: view

Animal Model Products

miRNA for WASH3P Gene

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WASH3P Gene

Localization for WASH3P Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASH3P Gene

Early endosome. Early endosome membrane. Recycling endosome membrane. Cell projection, lamellipodium. Cell projection, filopodium. Cytoplasmic vesicle, autophagosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the endosome membrane is mediated via its interaction with WASHC2. Localizes to MMP14-positive late endosomes and transiently to invadipodia (By similarity). Localized to Salmonella typhimurium entry sites (By similarity). {ECO:0000250 UniProtKB:A8K0Z3, ECO:0000250 UniProtKB:Q8VDD8}.

Gene Ontology (GO) - Cellular Components for WASH3P Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome ISS --
GO:0005776 autophagosome IEA --
GO:0005814 centriole IEA --
GO:0005829 cytosol IEA --
GO:0030027 lamellipodium IDA 18159949
genes like me logo Genes that share ontologies with WASH3P: view

No data available for Subcellular locations from COMPARTMENTS for WASH3P Gene

Pathways & Interactions for WASH3P Gene

SuperPathways for WASH3P Gene

No Data Available

Interacting Proteins for WASH3P Gene

Gene Ontology (GO) - Biological Process for WASH3P Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IMP 20175130
GO:0007032 endosome organization IMP 20175130
GO:0016197 endosomal transport ISS --
GO:0034314 Arp2/3 complex-mediated actin nucleation IDA 18159949
GO:0042147 retrograde transport, endosome to Golgi ISS --
genes like me logo Genes that share ontologies with WASH3P: view

No data available for Pathways by source and SIGNOR curated interactions for WASH3P Gene

Transcripts for WASH3P Gene

Unigene Clusters for WASH3P Gene

WAS protein family homolog 3 pseudogene:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WASH3P Gene

No ASD Table

Relevant External Links for WASH3P Gene

GeneLoc Exon Structure for
WASH3P
ECgene alternative splicing isoforms for
WASH3P

Expression for WASH3P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WASH3P Gene

NURSA nuclear receptor signaling pathways regulating expression of WASH3P Gene:

WASH3P

SOURCE GeneReport for Unigene cluster for WASH3P Gene:

Hs.459573
genes like me logo Genes that share expression patterns with WASH3P: view

No data available for 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASH3P Gene

Orthologs for WASH3P Gene

Evolution for WASH3P Gene

ENSEMBL:
Gene Tree for WASH3P (if available)
TreeFam:
Gene Tree for WASH3P (if available)

No data available for Orthologs for WASH3P Gene

Paralogs for WASH3P Gene

(8) SIMAP similar genes for WASH3P Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with WASH3P: view

No data available for Paralogs for WASH3P Gene

Variants for WASH3P Gene

Sequence variations from dbSNP and Humsavar for WASH3P Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1001408033 -- 101,968,264(+) TGTGG(C/G)TTCTC intron-variant
rs1001754504 -- 101,970,018(+) GCAAA(G/T)TAGCA intron-variant
rs1005924337 -- 101,975,573(+) CCTGC(A/G)CCTGC intron-variant
rs1009842657 -- 101,968,318(+) AGCCT(C/T)GGGCC intron-variant
rs1009915287 -- 101,970,086(+) AGGGG(A/G)TGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WASH3P Gene

Variant ID Type Subtype PubMed ID
dgv1278n106 CNV duplication 24896259
esv27561 CNV gain 19812545
nsv1075907 CNV duplication 25765185
nsv1076417 CNV duplication 25765185
nsv1147785 CNV duplication 26484159
nsv1152713 CNV duplication 26484159
nsv1695 CNV insertion 18451855
nsv471523 CNV gain 19718026
nsv514760 CNV gain 21397061
nsv570923 CNV gain 21841781
nsv820527 CNV duplication 20802225
nsv9315 CNV gain+loss 18304495
nsv952893 CNV duplication 24416366
nsv977765 CNV duplication 23825009
nsv977767 CNV duplication 23825009
nsv977807 CNV duplication 23825009
nsv977808 CNV duplication 23825009
nsv977810 CNV duplication 23825009
nsv984157 CNV duplication 23825009
nsv984158 CNV duplication 23825009

Relevant External Links for WASH3P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASH3P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for WASH3P Gene

Disorders for WASH3P Gene

MalaCards: The human disease database

(1) MalaCards diseases for WASH3P Gene - From: GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for WASH3P

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WASH3P
genes like me logo Genes that share disorders with WASH3P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASH3P Gene

Publications for WASH3P 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. WASH and the Arp2/3 complex regulate endosome shape and trafficking. (PMID: 20175130) Duleh S.N. … Welch M.D. (Cytoskeleton (Hoboken) 2010) 3 4 64
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Characterization of the murine orthologue of a novel human subtelomeric multigene family. (PMID: 11701968) Gianfrancesco F. … D'Urso M. (Cytogenet. Cell Genet. 2001) 2 3 64

Products for WASH3P Gene

Sources for WASH3P Gene

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