WASHC1

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

Basic information

Region (hg38): 9:14475-73865

Previous symbols: [ "FAM39E", "WASH1" ]

Links

ENSG00000181404 ∙ NCBI:100287171 ∙ OMIM:613632 ∙ HGNC:24361 ∙ Uniprot:A8K0Z3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WASHC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WASHC1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			37	5		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	7	0

Variants in WASHC1

This is a list of pathogenic ClinVar variants found in the WASHC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-14821-C-T		not specified	Uncertain significance (Nov 17, 2022)
9-14824-C-G		not specified	Uncertain significance (Oct 25, 2024)
9-14865-G-C		not specified	Uncertain significance (Jun 30, 2022)
9-14884-C-T		not specified	Likely benign (Apr 06, 2023)
9-14886-C-T		not specified	Uncertain significance (Jul 27, 2024)
9-14887-G-A		not specified	Uncertain significance (Nov 10, 2024)
9-14923-G-A		not specified	Uncertain significance (Apr 01, 2024)
9-15087-G-A		not specified	Uncertain significance (Jan 23, 2023)
9-15911-T-C		not specified	Uncertain significance (Apr 25, 2022)
9-15924-T-G		not specified	Uncertain significance (Aug 14, 2023)
9-15937-C-G		not specified	Uncertain significance (Jun 03, 2024)
9-15942-G-C		not specified	Uncertain significance (Oct 18, 2021)
9-15957-T-C		not specified	Likely benign (Jun 27, 2022)
9-15962-C-T		not specified	Uncertain significance (Feb 21, 2024)
9-15963-G-A		not specified	Uncertain significance (Apr 18, 2023)
9-15989-G-C		not specified	Uncertain significance (Oct 04, 2022)
9-15995-C-T		not specified	Uncertain significance (May 14, 2024)
9-15996-G-A		not specified	Uncertain significance (Aug 04, 2023)
9-15998-A-G		not specified	Uncertain significance (May 03, 2023)
9-16013-G-C		not specified	Uncertain significance (Apr 08, 2022)
9-16022-C-T		not specified	Uncertain significance (Dec 07, 2023)
9-16026-C-T		not specified	Likely benign (May 27, 2022)
9-16032-G-A		not specified	Uncertain significance (Apr 20, 2023)
9-16730-C-T		not specified	Uncertain significance (Jun 10, 2022)
9-16848-G-T			Likely benign (Oct 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

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}.
• Pathway: Endocytosis - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

• Gene name: Washc1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; cellular phenotype

Gene ontology

• Biological process: exocytosis;negative regulation of autophagy;protein transport;endosomal transport;extracellular matrix disassembly;positive regulation of cell migration;positive regulation of pseudopodium assembly;regulation of protein ubiquitination;Arp2/3 complex-mediated actin nucleation;retrograde transport, endosome to Golgi;negative regulation of phosphatidylinositol 3-kinase activity;retrograde transport, endosome to plasma membrane
• Cellular component: exocyst;early endosome;late endosome;autophagosome;centriole;cytosol;early endosome membrane;intracellular membrane-bounded organelle;recycling endosome;recycling endosome membrane;WASH complex;invadopodium
• Molecular function: actin binding;protein binding;ubiquitin protein ligase binding;alpha-tubulin binding