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WASH6P Gene

pseudogene   GIFtS: 24
GCID: GC0XP155250

WAS Protein Family Homolog 6 Pseudogene

(Previous names: family with sequence similarity 39, member A, chromosomes...)
(Previous symbols: FAM39A, CXYorf1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WAS Protein Family Homolog 6 Pseudogene1 2     Family With Sequence Similarity 39, Member A1
CXYorf11 2 3     WASH2
FAM39A1 2 3     Protein FAM39A3
Chromosomes X And Y Open Reading Frame 11     

External Ids:    HGNC: 316851   Entrez Gene: 6534402   Ensembl: ENSG000001824847   UniProtKB: Q9NQA33   

Export aliases for WASH6P gene to outside databases

Previous GC identifers: GC0XP154905 GC00U922822


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for WASH6P Gene:
WASH6P (WAS protein family homolog 6 pseudogene) is a pseudogene. Diseases associated with WASH6P include wiskott-aldrich syndrome. GO annotations related to this gene include actin binding and alpha-tubulin binding.

UniProtKB/Swiss-Prot: WASH6_HUMAN, Q9NQA3
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 (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for WASH6P
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WASH6P


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

Entrez Gene cytogenetic band: Xq28;Yq12   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28 and Yq12

WASH6P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WASH6P gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP155250:  view genomic region     (about GC identifiers)

Start:
155,250,491 bp from pter      End:
155,255,375 bp from pter
Size:
4,885 bases      Orientation:
plus strand

1 alternative location:
ChrY+ 59,354,329-59,358,343     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WASH6_HUMAN, Q9NQA3 (See protein sequence)
Recommended Name: WAS protein family homolog 6  
Size: 447 amino acids; 47990 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 (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 gene coding for this protein is
located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes
Sequence caution: Sequence=CAB96818.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NGF1 Q8N305

Explore the universe of human proteins at neXtProt for WASH6P: NX_Q9NQA3

Explore proteomics data for WASH6P at MOPED


See WASH6P Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
PAR2: Pseudoautosomal regions / PAR2
WASH: WAS protein homologs

2 InterPro protein domains:
 IPR028290 WASH1
 IPR021854 WASH1_WAHD

Graphical View of Domain Structure for InterPro Entry Q9NQA3

ProtoNet protein and cluster: Q9NQA3

UniProtKB/Swiss-Prot: WASH6_HUMAN, Q9NQA3
Similarity: Belongs to the WASH1 family
Similarity: Contains 1 WH2 domain


WASH6P for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: WASH6_HUMAN, Q9NQA3
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 (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0003779actin binding IEA--
GO:0043014alpha-tubulin binding ISS--
     
WASH6P for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
WASH6_HUMAN, Q9NQA3: Early endosome membrane (By similarity). Recycling endosome membrane (By similarity).
Note=Localization to the endodome membrane is mediated via its interaction with FAM21 (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endosome4
cytoskeleton2
mitochondrion2
cytosol1
golgi apparatus1
nucleus1

Gene Ontology (GO): 5 cellular component terms:    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 ISS--

WASH6P for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for WASH6P

Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--
GO:0016197endosomal transport ISS--
GO:0034314Arp2/3 complex-mediated actin nucleation ISS--
GO:0042147retrograde transport, endosome to Golgi ISS--

WASH6P for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000476066 ENST00000359512(uc004fnw.1) ENST00000461007 ENST00000496011
ENST00000469624 ENST00000479401 ENST00000340131 ENST00000492963 ENST00000460206(uc022cip.1)
ENST00000475594 ENST00000482170 ENST00000484415 ENST00000483079 ENST00000496301
ENST00000483286 ENST00000464205
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GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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WASH6P expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
WASH6P Expression
About this image

WASH6P Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

WASH6P Protein Expression
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In Situ
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(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)
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  --

ENSEMBL Gene Tree for WASH6P (if available)
TreeFam Gene Tree for WASH6P (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for WASH6P gene
8 SIMAP similar genes for WASH6P using alignment to 1 protein entry:     WASH6_HUMAN:
WASH1    WASH2P    WASH3P    WASH    WASH4P    DKFZp686C24272
DKFZp434K1323    FLJ00075

WASH6P for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing WASH6P
DNA2.0 Custom Variant and Variant Library Synthesis for WASH6P

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for WASH6P:    About MalaCards
wiskott-aldrich syndrome

1 disease from the University of Copenhagen DISEASES database for WASH6P:
Wiskott-Aldrich syndrome

WASH6P for disorders           About GeneDecksing


Export disorders for WASH6P gene to outside databases

(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)
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PubMed articles for WASH6P gene, integrated from 10 sources (see all 17):
(articles sorted by number of sources associating them with WASH6P)
    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. (PLoS Genet. 2007)
  2. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. (PubMed id 10655549)1, 2, 3 Ciccodicola A.... D'Urso M. (Hum. Mol. Genet. 2000)
  3. Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). (PubMed id 12566406)1, 3 Charchar F.J....Graves J.A. (Genome Res. 2003)
  4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
  6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
  7. Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin. (PubMed id 20308062)1 Monfregola J....Ursini M.V. (J. Biol. Chem. 2010)
  8. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (PubMed id 20498093)1 Jia D....Billadeau D.D. (Proc. Natl. Acad. Sci. U.S.A. 2010)
  9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
  10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 653440 HGNC: 31685 Ensembl:ENSG00000182484 euGenes: HUgn653440 ECgene: WASH6P
H-InvDB: WASH6P

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for WASH6P Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for WASH6P gene:
Search GeneIP for patents involving WASH6P

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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