FCHO1 Gene

Name	FCH domain only 1
Description	Enables AP-2 adaptor complex binding activity. Involved in several processes, including T cell receptor signaling pathway; 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, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FCHO1, a member of the muniscin family of F‐BAR domain–containing proteins, plays a critical role in the initiation and regulation of clathrin‐mediated endocytosis. By using its membrane‐bending F‐BAR domain together with a C‐terminal μ–homology domain that functions as an interaction hub, FCHO1 helps sculpt the plasma membrane to mark sites for clathrin‐coated vesicle formation and to recruit early endocytic factors such as eps15, intersectin, and the adaptor complex AP2."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Moreover, the capacity of FCHO1 to participate in dynamic, liquid‐like assemblies with other pioneer proteins further catalyzes the formation and maturation of clathrin‐coated pits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In addition to its central function in membrane remodeling and vesicle budding, FCHO1 has been implicated in modulating intracellular signaling cascades through interactions with receptors, such as the bone morphogenetic protein receptor Alk8, thus linking endocytic processes to signal transduction pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Functionally, proper FCHO1 activity is essential for efficient receptor internalization and cargo recycling, and its genetic disruption leads to defects in clathrin‐coated vesicle dynamics that manifest clinically as a combined immunodeficiency characterized by impaired T cell receptor internalization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Additionally, dysregulation of FCHO1 has been associated with oncogenic processes, including its involvement in regulating the G1/S phase transition in lung carcinoma cells, where its loss perturbs normal cell cycle progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these studies underscore FCHO1 as a master regulator of the early stages of clathrin‐mediated endocytosis that integrates membrane deformation with adaptor protein recruitment and cellular signaling to maintain cellular homeostasis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "William Mike Henne, Emmanuel Boucrot, Michael Meinecke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FCHo proteins are nucleators of clathrin-mediated endocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1188462"}], "href": "https://doi.org/10.1126/science.1188462"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20448150"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20448150"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Li Ma, Perunthottathu K Umasankar, Antoni G Wrobel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2016.05.003"}], "href": "https://doi.org/10.1016/j.devcel.2016.05.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27237791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27237791"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Perunthottathu K Umasankar, Li Ma, James R Thieman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.04137"}], "href": "https://doi.org/10.7554/eLife.04137"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25303365"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25303365"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kasey J Day, Grace Kago, Liping Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Liquid-like protein interactions catalyse assembly of endocytic vesicles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41556-021-00646-5"}], "href": "https://doi.org/10.1038/s41556-021-00646-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33820972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33820972"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "P K Umasankar, Subramaniam Sanker, James R Thieman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb2473"}], "href": "https://doi.org/10.1038/ncb2473"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22484487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22484487"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Enrica Calzoni, Craig D Platt, Sevgi Keles, et al. "}, {"type": "b", "children": [{"type": "t", "text": "F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Allergy Clin Immunol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jaci.2019.02.014"}], "href": "https://doi.org/10.1016/j.jaci.2019.02.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30822429"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30822429"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sungjin Park, Ah Young Lee, Kyung-Cho Cho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FCH domain only 1 (FCHo1), a potential new biomarker for lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Gene Ther (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41417-021-00376-8"}], "href": "https://doi.org/10.1038/s41417-021-00376-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34413495"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34413495"}]}]}]}
Proteins	FCHO1_HUMAN
NCBI Gene ID	23149
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FCHO1 has 5,470 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 111 datasets.

Click the + buttons to view associations for FCHO1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FCHO1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FCHO1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FCHO1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of FCHO1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FCHO1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FCHO1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FCHO1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of FCHO1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FCHO1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FCHO1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of FCHO1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FCHO1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FCHO1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FCHO1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FCHO1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FCHO1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FCHO1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FCHO1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FCHO1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing FCHO1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FCHO1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FCHO1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FCHO1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing FCHO1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FCHO1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FCHO1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of FCHO1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FCHO1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with FCHO1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FCHO1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of FCHO1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FCHO1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with FCHO1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FCHO1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FCHO1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FCHO1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FCHO1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FCHO1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FCHO1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FCHO1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of FCHO1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.