WASHC1 — WASH complex subunit 1
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<div class="infobox-header">WASHC1</div>
WASHC1 is a human gene whose product wASH complex subunit 1 (WASHC1) is a critical component of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex, which regulates actin polymerization and endosomal trafficking. The WASH complex is composed of WASHC1, WASHC2A/FAM21A, WASHC3, WASHC4, and WASHC5, and functions as a molecular scaffold that recruits the Arp2/3 complex to endosomal membranes[@daud2023]. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
WASHC1 — WASH complex subunit 1
<div class="infobox infobox-gene">
<div class="infobox-header">WASHC1</div>
WASHC1 is a human gene whose product wASH complex subunit 1 (WASHC1) is a critical component of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex, which regulates actin polymerization and endosomal trafficking. The WASH complex is composed of WASHC1, WASHC2A/FAM21A, WASHC3, WASHC4, and WASHC5, and functions as a molecular scaffold that recruits the Arp2/3 complex to endosomal membranes[@daud2023]. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
<div class="infobox-row"><span class="infobox-label">Full Name</span><span class="infobox-value">WASH Complex Subunit 1</span></div>
<div class="infobox-row"><span class="infobox-label">Symbol</span><span class="infobox-value">WASHC1</span></div>
<div class="infobox-row"><span class="infobox-label">Chromosomal Location</span><span class="infobox-value">Chromosome 9 (9p24.3)</span></div>
<div class="infobox-row"><span class="infobox-label">NCBI Gene ID</span><span class="infobox-value">[100287171](https://www.ncbi.nlm.nih.gov/gene/100287171)</span></div>
<div class="infobox-row"><span class="infobox-label">OMIM</span><span class="infobox-value">[613632](https://www.omim.org/entry/613632)</span></div>
<div class="infobox-row"><span class="infobox-label">Ensembl ID</span><span class="infobox-value">[ENSG00000197746](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197746)</span></div>
<div class="infobox-row"><span class="infobox-label">UniProt ID</span><span class="infobox-value">[Q8TF72](https://www.uniprot.org/uniprot/Q8TF72)</span></div>
<div class="infobox-row"><span class="infobox-label">Associated Diseases</span><span class="infobox-value">[Neuronal Ceroid Lipofuscinosis](/diseases/neuronal-ceroid-lipofuscinosis), [Intellectual Disability](/diseases/intellectual-disability), [Endosomal Sorting Defects](/mechanisms/endosomal-lysosomal-pathway))</span></div>
</div>
WASH complex subunit 1 (WASHC1) is a critical component of the WASH (Wiskott-Aldrich syndrome protein and SCAR homologue) complex, which regulates actin polymerization and endosomal trafficking. The WASH complex is composed of WASHC1, WASHC2A/FAM21A, WASHC3, WASHC4, and WASHC5, and functions as a molecular scaffold that recruits the Arp2/3 complex to endosomal membranes[@daud2023].
WASHC1 enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. It plays essential roles in:
Mutations in WASHC1 have been linked to:
The WASH complex interacts with the retromer (VPS26/VPS29/VPS35) to regulate cargo recognition and trafficking from endosomes to the Golgi. Dysregulation of this pathway is implicated in neurodegenerative diseases including [Alzheimer's disease](/diseases/alzheimers-disease) and [Parkinson's disease](/diseases/parkinsons-disease)[@mcgough2024].
WASHC1 is ubiquitously expressed with high expression in: