FCHO1

Chr 19p13.11

FCH and mu domain containing endocytic adaptor 1

Aliases:: KIAA0290
MANE:: ENST00000596536.6

OMIM: 613437 ↗NCBI: 23149 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FCHO1 · O14526

v62025-08-01

Predicted Aligned Error matrix for FCHO1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.1/ 100

Confident

889 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Familial Meniere Disease

Disease associations (Open Targets)

immunodeficiency 76
0.67
severe congenital neutropenia
0.50
coronary artery disorder
0.38
myocardial infarction
0.30
amyotrophic lateral sclerosis
0.28
mathematical ability
0.27
cardiovascular disorder
0.27
neurodegenerative disease
0.17
tricuspid valve disorder
0.13
coronary atherosclerosis
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

F-BAR domain only protein 1

Functions in an early step of clathrin-mediated endocytosis (PubMed:30822429). Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. Involved in the regulation of T-cell poliferation and activation (PubMed:30822429, PubMed:32098969). Affects TCR clustering upon receptor triggering and modulates its internalization, playing a role in TCR-dependent T-cell activation (PubMed:32098969)