FCHO1 Gene - FCH Domain Only 1
Key Regulator of Clathrin-Mediated Endocytosis and Immune Synapse Formation
Gene Information Card
| Symbol | FCHO1 |
|---|---|
| Full Name | FCH Domain Only 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O14526 |
| OMIM ID | 613437 |
| HGNC ID | 16999 |
| Aliases | FCHO1, FCH domain only 1, FCHSD1, FCH domain and SH3 domain containing 1 |
Description
FCHO1 encodes a protein that functions as a key initiator of clathrin-mediated endocytosis by promoting membrane curvature and recruiting clathrin and adaptor proteins. It is essential for receptor internalization, immune synapse formation, and T-cell activation. Loss-of-function mutations cause a severe combined immunodeficiency (SCID) phenotype.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) due to FCHO1 deficiency | Loss of FCHO1 disrupts clathrin-mediated endocytosis, impairing T-cell receptor internalization and immune synapse formation | OMIM #613437; PMID: 31564433 |
| Familial hemophagocytic lymphohistiocytosis (HLH) | Defective endocytosis leads to impaired cytotoxic granule exocytosis and immune dysregulation | PMID: 31564433 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 3.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell) | 15.3 | High expression |
| Raji (B-cell) | 9.7 | Medium |
| HEK293 | 6.4 | Low |
| HeLa | 4.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1063G>A (p.Gly355Arg) | Missense | Rare | Impaired membrane binding and endocytosis |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to defective clathrin-mediated endocytosis and immunodeficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • clathrin coat assembly | • membrane curvature |
| • endocytosis | • immune synapse formation |
| • protein localization to plasma membrane |
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Endocytosis (Reactome R-HSA-199991)
Protein Summary
FCHO1 is a 889-amino acid protein containing an N-terminal F-BAR domain that senses and induces membrane curvature, and a C-terminal SH3 domain that interacts with endocytic proteins such as dynamin and intersectin. It acts as a platform for clathrin coat assembly at the plasma membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FCHO1 Knockout HEK293 Cell Line | EDJ-KQ7856 | Human | 23149 | Details Get a Quote |
| FCHO1 Knockout A-549 Cell Line | EDJ-KQ33418 | Human | 23149 | Details Get a Quote |
| FCHO1 Knockout HCT 116 Cell Line | EDJ-KQ33419 | Human | 23149 | Details Get a Quote |
| FCHO1 Knockout HeLa Cell Line | EDJ-KQ33420 | Human | 23149 | Details Get a Quote |
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