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

Gene ID: 223593, updated on 21-Apr-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, Apr 2022]
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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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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. WASH complex regulates Arp2/3 complex for actin-based polar body extrusion in mouse oocytes. Wang F, et al. Sci Rep, 2014 Jul 7. PMID 24998208, Free PMC Article

See all (36) 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)
  • Targeted (6)  1 citation
  • Endonuclease-mediated (1) 

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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within 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 NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 PubMed 
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 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 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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