FCHO1
F-BAR domain only protein 1
Also known as: FCHO1_HUMAN, KIAA0290
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14526
- Gene
- FCHO1
- Ensembl
- ENSG00000130475
- Chromosome
- 19
- Canonical length
- 889 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
889 residues, UniProt reviewed canonical sequence.
>O14526|FCHO1
1 MSYFGEHFWG EKNHGFEVLY HSVKQGPIST KELADFIRER ATIEETYSKA MAKLSKLASN
61 GTPMGTFAPL WEVFRVSSDK LALCHLELTR KLQDLIKDVL RYGEEQLKTH KKCKEEVVST
121 LDAVQVLSGV SQLLPKSREN YLNRCMDQER LRRESTSQKE MDKAETKTKK AAESLRRSVE
181 KYNSARADFE QKMLDSALRF QAMEETHLRH MKALLGSYAH SVEDTHVQIG QVHEEFKQNI
241 ENVSVEMLLR KFAESKGTGR EKPGPLDFEA YSAAALQEAM KRLRGAKAFR LPGLSRRERE
301 PEPPAAVDFL EPDSGTCPEV DEEGFTVRPD VTQNSTAEPS RFSSSDSDFD DEEPRKFYVH
361 IKPAPARAPA CSPEAAAAQL RATAGSLILP PGPGGTMKRH SSRDAAGKPQ RPRSAPRTSS
421 CAERLQSEEQ VSKNLFGPPL ESAFDHEDFT GSSSLGFTSS PSPFSSSSPE NVEDSGLDSP
481 SHAAPGPSPD SWVPRPGTPQ SPPSCRAPPP EARGIRAPPL PDSPQPLASS PGPWGLEALA
541 GGDLMPAPAD PTAREGLAAP PRRLRSRKVS CPLTRSNGDL SRSLSPSPLG SSAASTALER
601 PSFLSQTGHG VSRGPSPVVL GSQDALPIAT AFTEYVHAYF RGHSPSCLAR VTGELTMTFP
661 AGIVRVFSGT PPPPVLSFRL VHTTAIEHFQ PNADLLFSDP SQSDPETKDF WLNMAALTEA
721 LQRQAEQNPT ASYYNVVLLR YQFSRPGPQS VPLQLSAHWQ CGATLTQVSV EYGYRPGATA
781 VPTPLTNVQI LLPVGEPVTN VRLQPAATWN LEEKRLTWRL PDVSEAGGSG RLSASWEPLS
841 GPSTPSPVAA QFTSEGTTLS GVDLELVGSG YRMSLVKRRF ATGMYLVSCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FCHO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 24 nTPM
- hippocampal formation: 24 nTPM
- midbrain: 22 nTPM
- basal ganglia: 22 nTPM
- skin: 20 nTPM
- cerebral cortex: 19 nTPM
Single-cell type
- oligodendrocytes: 71 nCPM
- neutrophils: 56 nCPM
- pdcs: 43 nCPM
- cdc: 43 nCPM
- microglia: 41 nCPM
- b-cells: 29 nCPM
Immune cell
- neutrophil: 26 nTPM
- plasmacytoid DC: 10 nTPM
- memory B-cell: 9.5 nTPM
- naive B-cell: 8.8 nTPM
- myeloid DC: 8.5 nTPM
- intermediate monocyte: 7.8 nTPM
Brain region
- white matter: 50 nTPM
- cerebral cortex: 31 nTPM
- basal ganglia: 30 nTPM
- pons: 25 nTPM
- thalamus: 25 nTPM
- midbrain: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FCHO1.
Disease | AllUniProt
Conditions FCHO1 is implicated in, by any mechanism.
- Immunodeficiency 76 (IMD76) MIM:619164
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 896 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Severe congenital neutropenia
- Immunodeficiency 76
- Immunodeficiency with T and B cell lymphopenia
- FCHO1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.4
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- clathrin coat assembly
- clathrin-dependent endocytosis
- positive regulation of T cell activation
- T cell receptor signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FCHO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FCHO1 as an antibody target. Whether an autoantibody or antibody against FCHO1 could matter depends on whether native FCHO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FCHO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FCHO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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