Homo sapiens Protein: FYCO1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-29900.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | FYCO1 | ||||||||||||||||||
Protein Name | FYVE and coiled-coil domain containing 1 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000296137 | ||||||||||||||||||
InnateDB Gene | IDBG-29898 (FYCO1) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | May mediate microtubule plus end-directed vesicle transport. {ECO:0000269PubMed:20100911}. | ||||||||||||||||||
Subcellular Localization | Cytoplasmic vesicle, autophagosome. Endosome. Lysosome. Note=Localizes to the external but not to the internal membrane of autophagosomes, and upon autophagosome/late endosome/lysosome fusion, it stays on the external surface of autolysosomes. | ||||||||||||||||||
Disease Associations | Cataract 18 (CTRCT18) [MIM:610019]: 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. {ECO:0000269PubMed:21636066}. Note=The disease is caused by mutations affecting the gene represented in this entry. 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). {ECO:0000269PubMed:21636066}. | ||||||||||||||||||
Tissue Specificity | Expressed in heart and skeletal muscle. {ECO:0000269PubMed:11896456}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000306
FYVE zinc finger IPR004012 RUN IPR009038 GOLD IPR009053 Prefoldin IPR010978 tRNA-binding arm IPR011011 Zinc finger, FYVE/PHD-type IPR017455 Zinc finger, FYVE-related |
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PFAM |
PF01363
PF02759 PF01105 PF13897 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00064
SM00593 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9BQS8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9BQS8 | ||||||||||||||||||
TrEMBL | C9J2W6 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 79443 | ||||||||||||||||||
UniGene | Hs.743737 | ||||||||||||||||||
RefSeq | NP_078789 | ||||||||||||||||||
HUGO | HGNC:14673 | ||||||||||||||||||
OMIM | 607182 | ||||||||||||||||||
CCDS | CCDS2734 | ||||||||||||||||||
HPRD | 06215 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC099782 AJ292348 AK023397 AK074165 AL832358 AL833308 BC007218 BC101468 BC101470 BC143368 | ||||||||||||||||||
GenPept | AAH07218 AAI01469 AAI01471 AAI43369 BAB14559 BAB84991 CAC33883 CAD89924 CAD91151 | ||||||||||||||||||