FCHO1 Gene Summary [Human]

Enables AP-2 adaptor complex binding activity. Involved in clathrin coat assembly and clathrin-dependent endocytosis. Located in cytosol; nucleoplasm; and plasma membrane. Is active in clathrin-coated pit. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
FCHO1
Official Name
FCH and mu domain containing endocytic adaptor 1 [Source:HGNC Symbol;Acc:HGNC:29002]
Ensembl ID
ENSG00000130475
Bio databases IDs NCBI: 23149 Ensembl: ENSG00000130475
Aliases FCH and mu domain containing endocytic adaptor 1
Synonyms 3322402E17RIK, FCH and mu domain containing endocytic adaptor 1, FCH domain only 1, IMD76
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 FCHO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • binding protein
  • AP_MHD_Cterm
  • Muniscin C-terminal mu homology domain
  • Mu-homology domain
  • Fes/CIP4, and EFC/F-BAR homology domain
  • protein binding
  • Bin/Amphiphysin/Rvs domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • immunodeficiency 76
  • myocardial infarction
  • coronary artery disease
  • autosomal recessive severe congenital neutropenia type 3
regulated by
role in cell
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cytosol
  • nucleoplasm
  • clathrin-coated pits

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FCHO1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • clathrin-mediated endocytosis
  • positive regulation of T cell activation
  • clathrin coat assembly
  • T cell receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • coated pit
  • cytosol
  • clathrin-coated vesicle
  • plasma membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • AP-2 adaptor complex 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.