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Washc4 WASH complex subunit 4 [ Mus musculus (house mouse) ]

Gene ID: 319277, updated on 11-Apr-2024

Summary

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Official Symbol
Washc4provided by MGI
Official Full Name
WASH complex subunit 4provided by MGI
Primary source
MGI:MGI:2441787
See related
Ensembl:ENSMUSG00000034560 AllianceGenome:MGI:2441787
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Kiaa1033; mKIAA1033; A230046K03Rik
Summary
Involved in endosomal transport. Located in endosome. Part of WASH complex. Is expressed in early conceptus and oocyte. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human WASHC4 (WASH complex subunit 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in placenta adult (RPKM 6.5), CNS E11.5 (RPKM 5.1) and 24 other tissues See more
Orthologs
human all
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Genomic context

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Location:
10 C1; 10 41.29 cM
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (83379073..83432350)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (83543620..83596473)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_27394 Neighboring gene destrin pseudogene Neighboring gene aldehyde dehydrogenase 1 family, member L2 Neighboring gene adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 Neighboring gene STARR-seq mESC enhancer starr_27397 Neighboring gene STARR-seq mESC enhancer starr_27398 Neighboring gene STARR-seq mESC enhancer starr_27399 Neighboring gene STARR-seq mESC enhancer starr_27401 Neighboring gene RIKEN cDNA 1500009L16 gene Neighboring gene STARR-seq mESC enhancer starr_27402

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans. Courtland JL, et al. Elife, 2021 Mar 22. PMID 33749590, Free PMC Article
  2. A FAM21-containing WASH complex regulates retromer-dependent sorting. Gomez TS, et al. Dev Cell, 2009 Nov. PMID 19922874, Free PMC Article
  3. Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour. Tyrrell BJ, et al. Pigment Cell Melanoma Res, 2016 Sep. PMID 27390154, Free PMC Article
  4. The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics. Harbour ME, et al. J Cell Sci, 2010 Nov 1. PMID 20923837, Free PMC Article
  5. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. Derivery E, et al. Dev Cell, 2009 Nov. PMID 19922875

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cognition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endolysosomal toll-like receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosomal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endosomal transport ISO
Inferred from Sequence Orthology
more info
  
involved_in endosomal transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within neuromuscular process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within 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 
acts_upstream_of_or_within regulation of protein complex stability IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of BLOC-1 complex ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
part_of WASH complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in early endosome membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
WASH complex subunit 4
Names
WASH complex subunit 7
WASH complex subunit SWIP

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_001033375.2 → NP_001028547.2  WASH complex subunit 4

    See identical proteins and their annotated locations for NP_001028547.2

    Status: VALIDATED

    Source sequence(s)
    AI605037, AK038582, AK161247, BQ561687
    Consensus CDS
    CCDS36015.1
    UniProtKB/Swiss-Prot
    Q3TTQ9, Q3UMB9, Q6ZPZ7, Q8CAK8, Q8CGK0
    Related
    ENSMUSP00000039322.6, ENSMUST00000038388.7
    Conserved Domains (3) summary
    pfam14744
    Location:612 → 945
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:32 → 600
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:966 → 1135
    WASH-7_C; WASH complex subunit 7, C-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    83379073..83432350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155807.1 → XP_036011700.1  WASH complex subunit 4 isoform X1

    Conserved Domains (3) summary
    pfam14744
    Location:695 → 994
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:122 → 690
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:1011 → 1180
    WASH-7_C; WASH complex subunit 7, C-terminal

  2. XM_017313963.3 → XP_017169452.1  WASH complex subunit 4 isoform X3

    Conserved Domains (3) summary
    pfam14744
    Location:424 → 757
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:1 → 412
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:779 → 947
    WASH-7_C; WASH complex subunit 7, C-terminal

  3. XM_030245113.2 → XP_030100973.1  WASH complex subunit 4 isoform X5

    Conserved Domains (3) summary
    pfam14744
    Location:200 → 533
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:1 → 188
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:555 → 723
    WASH-7_C; WASH complex subunit 7, C-terminal

  4. XM_006513737.4 → XP_006513800.2  WASH complex subunit 4 isoform X2

    Conserved Domains (3) summary
    pfam14744
    Location:568 → 901
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:8 → 556
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:923 → 1091
    WASH-7_C; WASH complex subunit 7, C-terminal

  5. XM_006513738.4 → XP_006513801.1  WASH complex subunit 4 isoform X4

    Conserved Domains (3) summary
    pfam14744
    Location:485 → 818
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:1 → 473
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:840 → 1008
    WASH-7_C; WASH complex subunit 7, C-terminal

  6. XM_006513739.4 → XP_006513802.1  WASH complex subunit 4 isoform X5

    Conserved Domains (3) summary
    pfam14744
    Location:200 → 533
    WASH-7_mid; WASH complex subunit 7
    pfam14745
    Location:1 → 188
    WASH-7_N; WASH complex subunit 7, N-terminal
    pfam14746
    Location:555 → 723
    WASH-7_C; WASH complex subunit 7, C-terminal

RNA

  1. XR_004936201.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UMB9.2 GenPept UniProtKB/Swiss-Prot:Q3UMB9

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