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WASHC1 WASH complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 100287171, updated on 1-Jun-2020

Summary

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Official Symbol
WASHC1provided by HGNC
Official Full Name
WASH complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:24361
See related
Ensembl:ENSG00000181404 MIM:613632
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WASH; WASH1; FAM39E
Expression
Ubiquitous expression in skin (RPKM 16.3), spleen (RPKM 13.7) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See WASHC1 in Genome Data Viewer
Location:
9p24.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (14475..30487, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (14469..29739, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DEAD/H-box helicase 11 like 5 (pseudogene) Neighboring gene uncharacterized LOC107987041 Neighboring gene microRNA 1302-9 Neighboring gene family with sequence similarity 138 member C Neighboring gene PGM5P3 antisense RNA 1 Neighboring gene phosphoglucomutase 5 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients. Türk M, et al. Neurobiol Aging, 2017 Aug. PMID 28551275
  2. WASH has a critical role in NK cell cytotoxicity through Lck-mediated phosphorylation. Huang L, et al. Cell Death Dis, 2016 Jul 21. PMID 27441653, Free PMC Article
  3. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Hao YH, et al. Mol Cell, 2015 Sep 17. PMID 26365382, Free PMC Article
  4. WASH and the Arp2/3 complex regulate endosome shape and trafficking. Duleh SN, et al. Cytoskeleton (Hoboken), 2010 Mar. PMID 20175130, Free PMC Article
  5. WASH and Tsg101/ALIX-dependent diversion of stress-internalized EGFR from the canonical endocytic pathway. Tomas A, et al. Nat Commun, 2015 Jun 12. PMID 26066081, Free PMC Article

See all (34) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In this study, we uncover an alternative role for the ESCRT-0 component hepatocyte growth factor-regulated tyrosine kinase substrate (HRS) in promoting the constitutive recycling of transmembrane proteins. We find that endosomal localization of the actin nucleating factor Wiscott-Aldrich syndrome protein and SCAR homologue (WASH) requires HRS, which occupies adjacent endosomal subdomains
    Title: HRS-WASH axis governs actin-mediated endosomal recycling and cell invasion.
  2. WASH-mediated AHR expression has a critical function in the maintenance of NKp46+ innate lymphoid cells
    Title: WASH maintains NKp46<sup>+</sup> ILC3 cells by promoting AHR expression.
  3. Its mutation is not found in a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity.
    Title: Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.
  4. WASH has a pivotal role for regulation of NK cell cytotoxicity through Lck-mediated Y141 tyrosine phosphorylation.
    Title: WASH has a critical role in NK cell cytotoxicity through Lck-mediated phosphorylation.
  5. ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters.
    Title: Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50.
  6. Stress-internalized EGFR co-segregates with exogenously expressed pre-melanosomal markers OA1 and fibrillar PMEL, following early endosomal sorting by the actin polymerization-promoting WASH complex
    Title: WASH and Tsg101/ALIX-dependent diversion of stress-internalized EGFR from the canonical endocytic pathway.
  7. FAM21 not only functions as an integral component of the cytoplasmic WASH complex, but also modulates NF-kappaB gene transcription in the nucleus.
    Title: Nuclear FAM21 participates in NF-κB-dependent gene regulation in pancreatic cancer cells.
  8. The WASH-VPEF/FAM21-retromer complexe mediates endosome fission and sorting of virus-containing vesicles prior to virus core uncoating in the cytoplasm.
    Title: Intracellular Transport of Vaccinia Virus in HeLa Cells Requires WASH-VPEF/FAM21-Retromer Complexes and Recycling Molecules Rab11 and Rab22.
  9. The USP7 deubiquitinating enzyme is an integral component of the MAGE-L2-TRIM27 ligase and is essential for WASH-mediated endosomal actin assembly and protein recycling.
    Title: USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
  10. WASH and the exocyst complex are required for matrix degradation by an exocytic mechanism that involves tubular connections between MT1-MMP-positive late endosomes and the plasma membrane in contact with the matrix.
    Title: Endosomal WASH and exocyst complexes control exocytosis of MT1-MMP at invadopodia.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00038, FLJ75027, FLJ99609, MGC190539, MGC193256, DKFZp434K1323

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
  
alpha-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
Arp2/3 complex-mediated actin nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
Arp2/3 complex-mediated actin nucleation ISS
Inferred from Sequence or Structural Similarity
more info
  
endosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
exocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of autophagy ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of phosphatidylinositol 3-kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of pseudopodium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
  
regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
retrograde transport, endosome to Golgi IDA
Inferred from Direct Assay
more info
 PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
retrograde transport, endosome to plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
WASH complex IDA
Inferred from Direct Assay
more info
 PubMed 
autophagosome ISS
Inferred from Sequence or Structural Similarity
more info
  
centriole IEA
Inferred from Electronic Annotation
more info
  
cytosol IEA
Inferred from Electronic Annotation
more info
  
early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
early endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with exocyst IDA
Inferred from Direct Assay
more info
 PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
invadopodium IDA
Inferred from Direct Assay
more info
 PubMed 
late endosome IEA
Inferred from Electronic Annotation
more info
  
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
WASH complex subunit 1
Names
CXYorf1-like protein on chromosome 9
FLJ00075 protein
WAS protein family homolog 1
actin nucleation promoting factor
family with sequence similarity 39, member E

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001378090.1 → NP_001365019.1  WASH complex subunit 1

    Status: VALIDATED

    Source sequence(s)
    AL928970

  2. NM_182905.6 → NP_878908.4  WASH complex subunit 1

    See identical proteins and their annotated locations for NP_878908.4

    Status: VALIDATED

    Source sequence(s)
    AL928970
    Consensus CDS
    CCDS78375.1
    UniProtKB/Swiss-Prot
    A8K0Z3
    Related
    ENSP00000485627.1, ENST00000442898.5
    Conserved Domains (1) summary
    pfam11945
    Location:14 → 297
    WASH_WAHD; WAHD domain of WASH complex

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    14475..30487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517666.2 → XP_011515968.1  WASH complex subunit 1 isoform X9

    Conserved Domains (1) summary
    pfam11945
    Location:63 → 272
    WASH_WAHD; WAHD domain of WASH complex

  2. XM_011517660.2 → XP_011515962.1  WASH complex subunit 1 isoform X3

    Conserved Domains (1) summary
    pfam11945
    Location:58 → 305
    WASH_WAHD; WAHD domain of WASH complex

  3. XM_011517659.2 → XP_011515961.1  WASH complex subunit 1 isoform X2

    Conserved Domains (1) summary
    pfam11945
    Location:59 → 306
    WASH_WAHD; WAHD domain of WASH complex

  4. XM_017014171.1 → XP_016869660.1  WASH complex subunit 1 isoform X10

    Conserved Domains (1) summary
    pfam11945
    Location:130 → 200
    WASH_WAHD; WAHD domain of WASH complex

  5. XM_011517662.3 → XP_011515964.1  WASH complex subunit 1 isoform X5

    Conserved Domains (1) summary
    pfam11945
    Location:49 → 296
    WASH_WAHD; WAHD domain of WASH complex

  6. XM_024447369.1 → XP_024303137.1  WASH complex subunit 1 isoform X4

    Conserved Domains (1) summary
    pfam11945
    Location:14 → 297
    WASH_WAHD; WAHD domain of WASH complex

  7. XM_017014172.1 → XP_016869661.1  WASH complex subunit 1 isoform X10

    Conserved Domains (1) summary
    pfam11945
    Location:130 → 200
    WASH_WAHD; WAHD domain of WASH complex

  8. XM_011517664.3 → XP_011515966.1  WASH complex subunit 1 isoform X7

    Conserved Domains (1) summary
    pfam11945
    Location:40 → 283
    WASH_WAHD; WAHD domain of WASH complex

  9. XM_011517663.3 → XP_011515965.1  WASH complex subunit 1 isoform X6

    Conserved Domains (1) summary
    pfam11945
    Location:40 → 284
    WASH_WAHD; WAHD domain of WASH complex

  10. XM_024447370.1 → XP_024303138.1  WASH complex subunit 1 isoform X11

    Conserved Domains (1) summary
    pfam11945
    Location:1 → 96
    WASH_WAHD; WAHD domain of WASH complex

  11. XM_017014170.1 → XP_016869659.1  WASH complex subunit 1 isoform X7

    Conserved Domains (1) summary
    pfam11945
    Location:40 → 283
    WASH_WAHD; WAHD domain of WASH complex

  12. XM_017014169.1 → XP_016869658.1  WASH complex subunit 1 isoform X6

    Conserved Domains (1) summary
    pfam11945
    Location:40 → 284
    WASH_WAHD; WAHD domain of WASH complex

  13. XM_011517665.2 → XP_011515967.1  WASH complex subunit 1 isoform X8

    Conserved Domains (1) summary
    pfam11945
    Location:25 → 273
    WASH_WAHD; WAHD domain of WASH complex

  14. XM_017014173.1 → XP_016869662.1  WASH complex subunit 1 isoform X12

RNA

  1. XR_002956737.1 RNA Sequence

  2. XR_929142.2 RNA Sequence

  3. XR_002956738.1 RNA Sequence

  4. XR_002956739.1 RNA Sequence

  5. XR_002956740.1 RNA Sequence

  6. XR_002956741.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8K0Z3.2 GenPept UniProtKB/Swiss-Prot:A8K0Z3

Gene LinkOut

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