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

Summary

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, Dec 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

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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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

RH125979 (e-PCR)
- UniSTS:162691

RH125365 (e-PCR)
- UniSTS:162187

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)

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

NC_000081.7 Reference GRCm39 C57BL/6J

Range

59203712..59246043 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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