WASHC4 Gene Summary [Human]

This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Details

Type
Protein Coding
Official Symbol
WASHC4
Official Name
WASH complex subunit 4 [Source:HGNC Symbol;Acc:HGNC:29174]
Ensembl ID
ENSG00000136051
Bio databases IDs NCBI: 23325 Ensembl: ENSG00000136051
Aliases WASH complex subunit 4, strumpellin and WASH-interacting protein
Synonyms A230046K03Rik, KIAA1033, mKIAA1033, MRT43, RGD1309995, SWIP, WASH complex subunit 4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WASHC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • WASH complex subunit 4, N-terminal
  • WASH complex subunit 7, C-terminal
  • WASH complex subunit 7
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive mental retardation type 43
  • autosomal recessive mental retardation
  • mental retardation
regulated by
  • Influenza A virus (A/Udon/307/72 (H3N2))
role in cell
  • transport
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • endosomes
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human WASHC4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • endosome organization
  • protein transport
  • endosomal transport
  • regulation of Arp2/3 complex-mediated actin nucleation

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • BLOC-1 complex
  • endosome
  • WASH complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.