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

Gene ID: 100287171, updated on 27-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
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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
  • 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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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