FYCO1: A Key Autophagy Adaptor Protein
FYVE and Coiled-Coil Domain Autophagy Adaptor 1
Gene Information Card
| Symbol | FYCO1 |
|---|---|
| Full Name | FYVE and coiled-coil domain autophagy adaptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 79443 ncbi.nlm.nih.gov/gene/79443 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9BQS8 |
| OMIM ID | 607076 |
| HGNC ID | 20573 |
| Aliases | FYVE, FLJ20016, MGC138499, MGC138501 |
Description
FYCO1 encodes a protein that functions as an adaptor for microtubule-dependent transport of autophagic vesicles. It contains an N-terminal RUN domain, a central coiled-coil region, and a C-terminal FYVE domain that binds phosphatidylinositol 3-phosphate (PtdIns3P) on autophagosome membranes. FYCO1 interacts with LC3 and Rab7 to facilitate the movement of autophagosomes toward the cell periphery, promoting fusion with lysosomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital cataract (ARCC) | Loss-of-function mutations in FYCO1 disrupt autophagosome transport, leading to lens fiber cell degeneration and cataract formation. | ClinVar, OMIM |
| Cataract 18 (CTRCT18) | Homozygous or compound heterozygous mutations in FYCO1 cause early-onset cataract. | OMIM #610019 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.7 | Medium |
| Eye (lens) | 18.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Moderate expression |
| HEK293 | 11.8 | Moderate expression |
| SH-SY5Y | 9.5 | Low expression |
| ARPE-19 | 20.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74*) | Nonsense | Rare | Loss of function; associated with congenital cataract |
| c.1543C>T (p.Arg515*) | Nonsense | Rare | Loss of function; associated with congenital cataract |
| c.2779C>T (p.Arg927*) | Nonsense | Rare | Loss of function; associated with congenital cataract |
| c.3082C>T (p.Arg1028*) | Nonsense | Rare | Loss of function; associated with congenital cataract |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein, resulting in loss of autophagy adaptor function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagosome maturation | • microtubule-based transport |
| • protein transport | • autophagy |
| • endosome to lysosome transport | • FYVE domain binding |
| • phosphatidylinositol-3-phosphate binding | • LC3 family protein binding |
| • Rab GTPase binding |
Pathways
• Autophagy (KEGG hsa04140)
• Selective autophagy (Reactome R-HSA-9663891)
• Macroautophagy (Reactome R-HSA-1632852)
Protein Summary
FYCO1 is a 1478-amino acid protein that acts as a molecular adaptor linking autophagosomes to microtubule motors. It contains a RUN domain for Rab7 interaction, a coiled-coil region for dimerization, and a FYVE domain for PtdIns3P binding. The protein is essential for autophagosome transport and fusion with lysosomes, particularly in lens epithelial cells where its loss leads to cataract formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FYCO1 Knockout HEK293 Cell Line | EDJ-KQ11224 | Human | 79443 | Details Get a Quote |
| FYCO1 Knockout A-549 Cell Line | EDJ-KQ40545 | Human | 79443 | Details Get a Quote |
| FYCO1 Knockout HCT 116 Cell Line | EDJ-KQ40547 | Human | 79443 | Details Get a Quote |
| FYCO1 Knockout HeLa Cell Line | EDJ-KQ40548 | Human | 79443 | Details Get a Quote |
