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

    Gene ID: 319277, updated on 9-Dec-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. Acts upstream of or within several processes, including endolysosomal toll-like receptor signaling pathway; neuromuscular process; and regulation of protein complex stability. Located in endosome. Part of WASH complex. Is expressed in early conceptus and oocyte. Used to study Wiskott-Aldrich syndrome. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 43. Orthologous to human WASHC4 (WASH complex subunit 4). [provided by Alliance of Genome Resources, Dec 2024]
    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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    See Washc4 in Genome Data Viewer
    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 (26) 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 IEA
    Inferred from Electronic Annotation
    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 
    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 
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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