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

    Gene ID: 100287171, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:24361
    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
    Summary
    Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in several cellular components, including endosome; exocyst; and lamellipodium. Part of WASH complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 16.3), spleen (RPKM 13.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WASHC1 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (14513..30487, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (8314..23877, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (14513..29739, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DEAD/H-box helicase 11 like 5 (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:20697-21539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:21540-22381 Neighboring gene microRNA 1302-9 Neighboring gene family with sequence similarity 138 member C Neighboring gene ReSE screen-validated silencer GRCh37_chr9:46796-46960 Neighboring gene protein piccolo-like 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 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. WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress. Hong Y, et al. Mol Biol Rep, 2022 Sep. PMID 35733063
    2. WASH and the Arp2/3 complex regulate endosome shape and trafficking. Duleh SN, et al. Cytoskeleton (Hoboken), 2010 Mar. PMID 20175130, Free PMC Article
    3. 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
    4. 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
    5. Multiple repeat elements within the FAM21 tail link the WASH actin regulatory complex to the retromer. Jia D, et al. Mol Biol Cell, 2012 Jun. PMID 22513087, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress.
      Title: WASHC1 interacts with MCM2-7 complex to promote cell survival under replication stress.
    2. 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.
    3. WASH-mediated AHR expression has a critical function in the maintenance of NKp46+ innate lymphoid cells
      Title: WASH maintains NKp46(+) ILC3 cells by promoting AHR expression.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    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
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol 3-kinase inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Arp2/3 complex-mediated actin nucleation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in Arp2/3 complex-mediated actin nucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endosomal transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of autophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of pseudopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Arp2/3 complex-mediated actin nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of WASH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of WASH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of WASH complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in autophagosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of exocyst IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in 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
      Consensus CDS
      CCDS78375.1
      UniProtKB/Swiss-Prot
      A8K0Z3, C4AMC7, Q6VEQ5
      Related
      ENSP00000512441.1, ENST00000696149.1
      Conserved Domains (1) summary
      pfam11945
      Location:14 → 297
      WASH_WAHD; WAHD domain of WASH complex

    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, C4AMC7, Q6VEQ5
      Related
      ENSP00000485627.1, ENST00000442898.5
      Conserved Domains (1) summary
      pfam11945
      Location:14 → 297
      WASH_WAHD; WAHD domain of WASH complex

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      14513..30487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517666.3 → XP_011515968.1  WASH complex subunit 1 isoform X8

      UniProtKB/TrEMBL
      A9QQ13
      Conserved Domains (1) summary
      pfam11945
      Location:63 → 272
      WASH_WAHD; WAHD domain of WASH complex

    2. XM_011517660.3 → XP_011515962.1  WASH complex subunit 1 isoform X2

      UniProtKB/TrEMBL
      A9QQ13
      Conserved Domains (1) summary
      pfam11945
      Location:58 → 305
      WASH_WAHD; WAHD domain of WASH complex

    3. XM_011517659.3 → XP_011515961.1  WASH complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      A9QQ13
      Conserved Domains (1) summary
      pfam11945
      Location:59 → 306
      WASH_WAHD; WAHD domain of WASH complex

    4. XM_047422581.1 → XP_047278537.1  WASH complex subunit 1 isoform X9

    5. XM_017014171.2 → XP_016869660.1  WASH complex subunit 1 isoform X9

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

    6. XM_011517662.4 → XP_011515964.1  WASH complex subunit 1 isoform X4

      UniProtKB/TrEMBL
      A9QQ13
      Conserved Domains (1) summary
      pfam11945
      Location:49 → 296
      WASH_WAHD; WAHD domain of WASH complex

    7. XM_024447369.2 → XP_024303137.1  WASH complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A8K0Z3, C4AMC7, Q6VEQ5
      Conserved Domains (1) summary
      pfam11945
      Location:14 → 297
      WASH_WAHD; WAHD domain of WASH complex

    8. XM_017014172.2 → XP_016869661.1  WASH complex subunit 1 isoform X9

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

    9. XM_047422579.1 → XP_047278535.1  WASH complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A8K0Z3

    10. XM_011517664.4 → XP_011515966.1  WASH complex subunit 1 isoform X6

      UniProtKB/Swiss-Prot
      A6NGF1, Q8N305, Q9NQA3
      Conserved Domains (1) summary
      pfam11945
      Location:40 → 283
      WASH_WAHD; WAHD domain of WASH complex

    11. XM_017014169.2 → XP_016869658.1  WASH complex subunit 1 isoform X5

      UniProtKB/Swiss-Prot
      A6NGF1, Q8N305, Q9NQA3
      Conserved Domains (1) summary
      pfam11945
      Location:40 → 284
      WASH_WAHD; WAHD domain of WASH complex

    12. XM_011517665.3 → XP_011515967.1  WASH complex subunit 1 isoform X7

      UniProtKB/TrEMBL
      A9QQ13
      Conserved Domains (1) summary
      pfam11945
      Location:25 → 273
      WASH_WAHD; WAHD domain of WASH complex

    13. XM_047422587.1 → XP_047278543.1  WASH complex subunit 1 isoform X15

    14. XM_047422584.1 → XP_047278540.1  WASH complex subunit 1 isoform X12

    15. XM_047422583.1 → XP_047278539.1  WASH complex subunit 1 isoform X11

    16. XM_047422582.1 → XP_047278538.1  WASH complex subunit 1 isoform X10

    17. XM_047422586.1 → XP_047278542.1  WASH complex subunit 1 isoform X14

    18. XM_047422585.1 → XP_047278541.1  WASH complex subunit 1 isoform X13

    19. XM_047422588.1 → XP_047278544.1  WASH complex subunit 1 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      8314..23877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8K0Z3.2 GenPept UniProtKB/Swiss-Prot:A8K0Z3

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