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    Washc5 WASH complex subunit 5 [ Mus musculus (house mouse) ]

    Gene ID: 223593, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Washc5provided by MGI
    Official Full Name
    WASH complex subunit 5provided by MGI
    Primary source
    MGI:MGI:2146110
    See related
    Ensembl:ENSMUSG00000022350 AllianceGenome:MGI:2146110
    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
    strumpellin; E430025E21Rik
    Summary
    Predicted to enable identical protein binding activity. Involved in meiotic spindle assembly; oocyte maturation; and polar body extrusion after meiotic divisions. Acts upstream of or within several processes, including lysosome organization; regulation of actin nucleation; and regulation of vesicle size. Located in endosome. Part of WASH complex. Is expressed in foregut; male reproductive system; nervous system; sensory organ; and vibrissa. Human ortholog(s) of this gene implicated in Ritscher-Schinzel syndrome 1 and hereditary spastic paraplegia 8. Orthologous to human WASHC5 (WASH complex subunit 5). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 15.9), kidney adult (RPKM 11.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Washc5 in Genome Data Viewer
    Location:
    15 D1; 15 25.17 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (59203712..59246043, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (59331863..59374194, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene zinc finger protein 572 Neighboring gene squalene epoxidase Neighboring gene STARR-positive B cell enhancer ABC_E8593 Neighboring gene STARR-seq mESC enhancer starr_38785 Neighboring gene NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase Neighboring gene STARR-seq mESC enhancer starr_38787 Neighboring gene STARR-seq mESC enhancer starr_38788 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59356284-59356467 Neighboring gene STARR-seq mESC enhancer starr_38791 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59403555-59403708 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59429020-59429203 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:59429225-59429438 Neighboring gene STARR-seq mESC enhancer starr_38794 Neighboring gene STARR-seq mESC enhancer starr_38795 Neighboring gene STARR-positive B cell enhancer ABC_E7372 Neighboring gene predicted gene, 36677

    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 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. Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination. Lim SH, et al. Biochem Biophys Res Commun, 2023 Sep 17. PMID 37392480
    2. The WASH-complex subunit Strumpellin regulates integrin αIIbβ3 trafficking in murine platelets. Schurr Y, et al. Sci Rep, 2023 Jun 12. PMID 37308549, Free PMC Article
    3. N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue. Clemen CS, et al. Neuropathol Appl Neurobiol, 2022 Feb. PMID 34312900
    4. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Jahic A, et al. Orphanet J Rare Dis, 2015 Nov 16. PMID 26572744, Free PMC Article
    5. Expression of N471D strumpellin leads to defects in the endolysosomal system. Song L, et al. Dis Model Mech, 2018 Sep 13. PMID 30061306, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination.
      Title: Strumpellin/WASHC5 regulates the structural plasticity of cortical neurons involved in gait coordination.
    2. The WASH-complex subunit Strumpellin regulates integrin alphaIIbbeta3 trafficking in murine platelets.
      Title: The WASH-complex subunit Strumpellin regulates integrin αIIbβ3 trafficking in murine platelets.
    3. N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.
      Title: N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.
    4. These results underscore a key role for the WASH complex and its core subunit, Str, in the endolysosomal system.
      Title: Expression of N471D strumpellin leads to defects in the endolysosomal system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (6)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0196, MGC31278

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    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 fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endosome fission ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within exocytosis ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in meiotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phagocytosis ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in polar body extrusion after meiotic divisions IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein-containing complex localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein-containing complex organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein-containing complex organization ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in regulation of Arp2/3 complex-mediated actin nucleation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of actin nucleation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of vesicle size 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 ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    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 cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in early endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body 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 5
    Names
    WASH complex subunit strumpellin

    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_153548.3 → NP_705776.2  WASH complex subunit 5

      See identical proteins and their annotated locations for NP_705776.2

      Status: VALIDATED

      Source sequence(s)
      AC113269, BC067035
      Consensus CDS
      CCDS37083.1
      UniProtKB/Swiss-Prot
      Q8BGY1, Q8C2E7, Q8K2J2
      Related
      ENSMUSP00000022976.5, ENSMUST00000022976.6
      Conserved Domains (1) summary
      pfam10266
      Location:23 → 1103
      Strumpellin; Hereditary spastic paraplegia protein strumpellin

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      59203712..59246043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520759.4 → XP_006520822.1  WASH complex subunit 5 isoform X1

      Conserved Domains (1) summary
      pfam10266
      Location:12 → 1004
      Strumpellin; Hereditary spastic paraplegia protein strumpellin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C2E7.2 GenPept UniProtKB/Swiss-Prot:Q8C2E7

    Gene LinkOut

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

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