WASHC1

protein-coding

WASH complex subunit 1, the group of SSU processome|Wiskott-Aldrich Syndrome protein family|WASH complex

Gene summary

Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in several cellular components, including endosome; exocyst; and lamellipodium. Part of WASH complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

FAM39E
WASH1

MANE transcript

NM_001378090.1

Inheritance

—

ClinVar variants

U:83B:10

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr9:14,475-73,865

External References & Databases

Ensembl (ENSG00000181404)

NCBI Gene (100287171)

Transcript & Mutation Effects

hg38 • Region Span ~59.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to WASHC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 85

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001378090.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				4 clinvar		4
missense			80 clinvar	6 clinvar		86
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	83	10	0	93

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 124 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001378090.1	RefSeq	NP_001365019.1	10	MANE Select
ENST00000696149.1	Ensembl	ENSP00000512441.1	10	MANE Select
NM_182905.6	RefSeq	NP_878908.4	10	Standard
ENST00000442898.5	Ensembl	ENSP00000485627.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Endocytosis - Homo sapiens (human)

Biological Process

exocytosis
negative regulation of autophagy
protein transport
endosomal transport
extracellular matrix disassembly

Molecular Function

actin binding
protein binding
ubiquitin protein ligase binding
alpha-tubulin binding

Cellular Component

exocyst
early endosome
late endosome
autophagosome
centriole

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922874, PubMed:19922875, PubMed:20498093, PubMed:23452853). Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting (PubMed:20498093). Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration (PubMed:22114305). In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation (By similarity). Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex (PubMed:24344185). Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity). {ECO:0000250|UniProtKB:C4AMC7, ECO:0000250|UniProtKB:Q8VDD8, ECO:0000269|PubMed:19922874, ECO:0000269|PubMed:19922875, ECO:0000269|PubMed:20498093, ECO:0000269|PubMed:22114305, ECO:0000269|PubMed:23452853, ECO:0000305|PubMed:20498093}.;