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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WASH1 Gene

protein-coding   GIFtS: 40
GCID: GC09M000008

WAS protein family homolog 1

(Previous names: family with sequence similarity 39, member E )
(Previous symbol: FAM39E)
 Explore 4 diseases affiliated with
WASH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for WASH1    

Aliases
for WASH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
WAS Protein Family Homolog 11 2     WASH2 5
FAM39E1 2 3     FLJ000381
Family With Sequence Similarity 39, Member E1 2     FLJ00075 Protein2
CXYorf1-Like Protein On Chromosome 92 3     Protein FAM39E3

External Ids:    HGNC: 243611   Entrez Gene: 1002871712   Ensembl: ENSG000001814047   OMIM: 6136325   UniProtKB: A8K0Z33   

Export aliases for WASH1 gene to outside databases

Previous GC identifer: GC0YP057765


Summaries
for WASH1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: WASH1_HUMAN, A8K0Z3
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




Genomic Views
for WASH1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_018920.1  NC_000009.11  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WASH1 gene promoter:
         MEF-2   POU3F1   E4BP4   MEF-2A   POU2F1   POU2F1a   POU2F1b   POU2F1c   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WASH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for WASH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WASH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

WASH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WASH1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M000008:  view genomic region     (about GC identifiers)

Start:
 14,511 bp from pter      End:
 29,739 bp from pter
Size:
 15,229 bases      Orientation:
 minus strand

Proteins
for WASH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: WASH1_HUMAN, A8K0Z3 (See protein sequence)
Recommended Name: WAS protein family homolog 1  
Size: 465 amino acids; 50328 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3),
F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P or WASH6P), FAM21 (FAM21A, FAM21B or
FAM21C), KIAA1033, KIAA0196 and CCDC53. Interacts (via WHD1 region) with FAM21C; the interaction is direct. Interacts
with alpha-tubulin
Subcellular location: Early endosome membrane. Recycling endosome membrane (By similarity). Note=Localization to the
endodome membrane is mediated via its interaction with FAM21
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

Explore the universe of human proteins at neXtProt for WASH1: NX_A8K0Z3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A8K0Z3

    • WASH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_878908.4  
    Human Recombinant Protein Products: 
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    Uscn Proteins for WASH1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome ISS--
    GO:0031901early endosome membrane IEA--
    GO:0055037recycling endosome ISS--
    GO:0055038recycling endosome membrane IEA--
    GO:0071203WASH complex IDA19922875


    WASH1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for WASH1

    Protein Domains /
    Families
    for WASH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    WASH1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR021854 WASH_WASD

    Graphical View of Domain Structure for InterPro Entry A8K0Z3

    ProtoNet protein and cluster: A8K0Z3

    UniProtKB/Swiss-Prot: WASH1_HUMAN, A8K0Z3
    Similarity: Belongs to the WASH1 family
    Similarity: Contains 1 WH2 domain


    Function
    for WASH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: WASH1_HUMAN, A8K0Z3
    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

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI19922874
    GO:0043014alpha-tubulin binding IDA19922874


    WASH1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for WASH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WASH1

    2 Interacting proteins for WASH1 (A8K0Z33) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA0196Q127683I2D: score=1 
    KIAA1033Q2M3893I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016197endosomal transport ISS--
    GO:0034314Arp2/3 complex-mediated actin nucleation ISS--
    GO:0042147retrograde transport, endosome to Golgi IMP19922874


    WASH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for WASH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WASH1
    Search CenterWatch for drugs/clinical trials and news about WASH1 

    Transcripts
    for WASH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for WASH1 gene: 
    NM_182905.4  

    Unigene Clusters for WASH1:

    WAS protein family homolog 1
    Hs.461200  [show with all ESTs], Hs.585931  [show with all ESTs]
    Unigene Representative Sequences: AK024481, AK057951
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442926 ENST00000442898(uc011llq.1 uc010mgp.1 uc022bcs.1 uc010mgm.1)
    ENST00000330546 ENST00000399972(uc003zfu.1)

    miRNA
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    Inhib. RNA
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    OriGene siRNA: WASH1
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    Clone
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    GenScript: all cDNA clones in your preferred vector: WASH1 (NM_182905)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat WASH1 
    Primer
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    Additional cDNA sequence: 

    AK057951.1 AK310121.1 BC047449.1 BC063682.1 BC094860.1 DQ786314.1 NR_028269.1 

    24/110 DOTS entries (see all 110):

    DT.95172025  DT.92045715  DT.100829692  DT.40265813  DT.121055053  DT.85101945  DT.454253  DT.100059382 
    DT.120654001  DT.121417451  DT.100654144  DT.70104820  DT.92460094  DT.95126574  DT.86999703  DT.95333413 
    DT.100059380  DT.40238106  DT.97857002  DT.100639711  DT.100798951  DT.100848229  DT.100803430  DT.85101946 

    GeneLoc Exon Structure


    Expression
    for WASH1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WASH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    WASH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMononuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleThoracic Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Hypaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Primary Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteCervical Primary Hypaxial MyotomeMononuclear MyocytesSkeletal Muscle
    SomiteLumbar Epaxial MyotomeMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See WASH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WASH1

    SOURCE GeneReport for Unigene clusters: Hs.461200 Hs.585931
        SABiosciences Custom PCR Arrays for WASH1
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for WASH1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for WASH1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Wash1 WAS protein family homolog 82.18(n)
    84.27(a)    		   68767  NM_026833.1  NP_081109.1 
    chicken
    (Gallus gallus)    		 Aves WASH11 WAS protein family homolog 1 73.41(n)
    77.42(a)    		   418145  NM_001006245.1  NP_001006245.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wash1 WAS protein family homolog 67.39(n)
    68.11(a)    		   555174  NM_001110450.1  NP_001103920.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta wash1 washout 44.47(n)
    35.94(a)    		   36311  NM_136895.3  NP_610739.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ddl-21 Protein DDL-2 44.28(n)
    33.09(a)    		   190025  NM_064446.1  NP_496847.1 


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

    Paralogs
    for WASH1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for WASH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/89 NCBI SNPs in WASH1 are shown (see all 89)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1493055631,2
    		--14665(+) CTTCCA/GCTCCT 2 -- ut31 ds50010--------
    rs625301461,2
    		C,--14690(+) ACACAG/CTGCTG 2 -- ut31 ds50011Minor allele frequency- C:0.50NA 2
    rs1996684631,2
    		F--14764(+) AGCAAC/TGGCCC 2 -- ut31 ds50011Minor allele frequency- T:0.37EU 107
    rs2005819221,2
    		F--14788(+) GGGGGG/AAAGGT 2 -- ds5001 ut311Minor allele frequency- A:0.01EU 423
    rs715099221,2
    		C,F--14810(+) CCCTAC/GGATTC 3 S ds5001 syn14Minor allele frequency- G:0.25NA WA EU 111
    rs2003778211,2
    		C,F--14816(+) GATTCC/GCAGTC 3 C W mis1 ds50011Minor allele frequency- G:0.04EU 529
    rs715099231,2
    		C,F--14863(+) CGGCAA/C/GAGGAG 4 L V syn1 mis1 ds50012NA EU 220
    rs715099241,2
    		C,F--14889(+) CGCGGA/GCAAAG 3 A V ds5001 mis12Minor allele frequency- G:0.17NA EU 185
    rs1411566621,2
    		C,F,--15883(+) CCTCCA/GACCGC 1 -- int11Minor allele frequency- G:0.31EU 181
    rs2000067081,2
    		F--16020(+) GGCCCA/GGCCAC 2 R W mis11Minor allele frequency- G:0.07EU 119

    HapMap Linkage Disequilibrium report for WASH1 (14511 - 29739 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 16 variations for WASH1
         15 CNVs: 82849 95783 95777 82840 82833 65298 95778 82848 95781 82847 95780 31460 33061 82839 95782
         1 Indel: 29118

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    Disorders / Diseases
    for WASH1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    WASH1 for disorders           About GeneDecksing

    OMIM gene information: 613632    OMIM disorders: --

    4 diseases for WASH1:    About MalaCards
    wiskott-aldrich syndrome    spastic paraplegia    paraplegia    spasticity

    1 disease from the University of Copenhagen DISEASES database for WASH1:
    Wiskott-Aldrich syndrome

    Export disorders for WASH1 gene to outside databases

    Publications
    for WASH1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WASH1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with WASH1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human subtelomeric WASH genes encode a new subclass of the WASP family. (PubMed id 18159949)1, 2, 3 Linardopoulou E.V.... Trask B.J. (2007)
    2. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PubMed id 19922875)1, 2 Derivery E.... Gautreau A. (2009)
    3. A FAM21-containing WASH complex regulates retromer-de pendent sorting. (PubMed id 19922874)1, 2 Gomez T.S. and Billadeau D.D. (2009)
    4. Diverse fates of paralogs following segmental duplication of telomeric genes. (PubMed id 15233989)1, 3 Wong A....Ledbetter D.H. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. (PubMed id 10655549)1, 2 Ciccodicola A.... D'Urso M. (2000)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Multiple repeat elements within the FAM21 tail link th e WASH actin regulatory complex to the retromer. (PubMed id 22513087)1 Jia D....Rosen M.K. (2012)
    9. The Arp2/3 activator WASH regulates a5b1-integrin-medi ated invasive migration. (PubMed id 22114305)1 Zech T....Machesky L.M. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    External Searches for WASH1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing WASH1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 100287171 HGNC: 24361 Ensembl:ENSG00000181404 euGenes: HUgn100287171 ECgene: WASH1
    H-InvDB: WASH1

    Other Databases showing WASH1 gene

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    Specialized Databases showing WASH1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WASH1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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