Was Wiskott-Aldrich syndrome [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Wasprovided by MGI
Official Full Name: Wiskott-Aldrich syndromeprovided by MGI
Primary source: MGI:MGI:105059
See related: Ensembl:ENSMUSG00000031165 AllianceGenome:MGI:105059
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: Wasp
Summary: Enables identical protein binding activity. Acts upstream of or within several processes, including actin filament polymerization; cellular response to type II interferon; and endosomal transport. Located in cell-cell junction; phagocytic vesicle; and vesicle membrane. Is expressed in brain; heart; liver; and spleen. Used to study IgA glomerulonephritis and Wiskott-Aldrich syndrome. Human ortholog(s) of this gene implicated in Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; and thrombocytopenia. Orthologous to human WAS (WASP actin nucleation promoting factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in thymus adult (RPKM 28.4), spleen adult (RPKM 26.0) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 3.65 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7947705..7956730, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (8081466..8090491, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The WASp L272P gain-of-function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion.
Title: The WASp L272P gain-of-function mutation alters dendritic cell coordination of actin dynamics for migration and adhesion.
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
Title: Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
WASP and Mst1 coregulate B-cell development and B-cell receptor signaling.
Title: WASP and Mst1 coregulate B-cell development and B-cell receptor signaling.
Transition of podosomes into zipper-like structures in macrophage-derived multinucleated giant cells.
Title: Transition of podosomes into zipper-like structures in macrophage-derived multinucleated giant cells.
Wiskott-Aldrich syndrome protein restricts cGAS/STING activation by dsDNA immune complexes.
Title: Wiskott-Aldrich syndrome protein restricts cGAS/STING activation by dsDNA immune complexes.
WASp Is Essential for Effector-to-Memory conversion and for Maintenance of CD8(+)T Cell Memory.
Title: WASp Is Essential for Effector-to-Memory conversion and for Maintenance of CD8(+)T Cell Memory.
Neuronal Wiskott-Aldrich syndrome protein regulates Pseudomonas aeruginosa-induced lung vascular permeability through the modulation of actin cytoskeletal dynamics.
Title: Neuronal Wiskott-Aldrich syndrome protein regulates Pseudomonas aeruginosa-induced lung vascular permeability through the modulation of actin cytoskeletal dynamics.
Results suggest that WHIMP-associated actin assembly plays a direct role in membrane protrusion, but also results in feedback control of tyrosine kinase signaling to modulate the activation of multiple WASP-family members.
Title: WHIMP links the actin nucleation machinery to Src-family kinase signaling during protrusion and motility.
this study shows that Wiskott-Aldrich syndrome protein may be critical for CD8(+) T cell function following murine cytomegalovirus infection
Title: Wiskott-Aldrich syndrome protein may be critical for CD8(+) T cell function following MCMV infection.
Our data show that the amplitude of WASp activity inside a cell could be enhanced by cell-surface receptor signaling even in the context in which WASp is already in an active conformation.
Title: Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7466E (e-PCR)
- UniSTS:99329

AI852103 (e-PCR)
- UniSTS:164662

U42471 (e-PCR)
- UniSTS:160068

Suv39h1 (e-PCR), detects polymorphism
- UniSTS:186754

RH125373 (e-PCR)
- UniSTS:162195

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	IEA Inferred from Electronic Annotation more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Cdc42 protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in Cdc42 protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within T cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin filament-based movement	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin polymerization or depolymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within endosomal transport	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell motility	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell motility	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of T cell antigen processing and presentation	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell antigen processing and presentation	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin polymerization or depolymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin polymerization or depolymerization	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of lamellipodium assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin filament	IEA Inferred from Electronic Annotation more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in phagocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info
located_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: actin nucleation-promoting factor WAS

Names: Wiskott-Aldrich syndrome homolog; wiskott-Aldrich syndrome protein homolog

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.