| UniProt Protein Function: | FYCO1: May mediate microtubule plus end-directed vesicle transport. Defects in FYCO1 are the cause of cataract congenital autosomal recessive type 2 (CATC2). An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Pathogenic mutations in FYCO1 can affect intracellular transport of autophagocytic vesicles from the perinuclear area to the periphery, leading to an accumulation of large numbers of vesicles and hence loss of lens transparency (PubMed:21636066). 3 isoforms of the human protein are produced by alternative splicing.Protein type: AutophagyChromosomal Location of Human Ortholog: 3p21.31Cellular Component: autophagic vacuole; cytoplasmic vesicle; integral to membrane; intracellular membrane-bound organelle; late endosome; lysosome; membraneMolecular Function: metal ion binding; protein bindingDisease: Cataract 18 |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011] |
| UniProt Code: | Q9BQS8 |
| NCBI GenInfo Identifier: | 157738667 |
| NCBI Gene ID: | 79443 |
| NCBI Accession: | NP_078789.2 |
| UniProt Secondary Accession: | Q9BQS8,Q3MJE6, Q86T41, Q86TB1, Q8TEF9, Q96IV5, Q9H8P9 B7ZKT7 |
| UniProt Related Accession: | Q9BQS8 |
| Molecular Weight: | |
| NCBI Full Name: | FYVE and coiled-coil domain-containing protein 1 |
| NCBI Synonym Full Names: | FYVE and coiled-coil domain containing 1 |
| NCBI Official Symbol: | FYCO1Â Â |
| NCBI Official Synonym Symbols: | CATC2; RUFY3; ZFYVE7; CTRCT18Â Â |
| NCBI Protein Information: | FYVE and coiled-coil domain-containing protein 1 |
| UniProt Protein Name: | FYVE and coiled-coil domain-containing protein 1 |
| UniProt Synonym Protein Names: | Zinc finger FYVE domain-containing protein 7 |
| Protein Family: | FYVE and coiled-coil domain-containing protein |
| UniProt Gene Name: | FYCO1Â Â |
| UniProt Entry Name: | FYCO1_HUMAN |
