Q9BQS8 (FYCO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FYVE and coiled-coil domain-containing protein 1 Alternative name(s): Zinc finger FYVE domain-containing protein 7 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1478 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May mediate microtubule plus end-directed vesicle transport. Ref.8 |
| Subunit structure | Can form homodimers. Interacts (via C-terminus) with MAP1LC3B. Interacts with RAB7A; the interaction with RAB7A induces FYCO1 recruitment to late endosomal/lysosomal compartments. Ref.8 |
| Subcellular location | 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. Ref.8 Ref.9 |
| Tissue specificity | Expressed in heart and skeletal muscle. Ref.1 |
| Involvement in disease | Cataract, congenital, autosomal recessive 2 (CATC2) [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. |
| Sequence similarities | Contains 1 FYVE-type zinc finger. Contains 1 GOLD domain. Contains 1 RUN domain. |
| Sequence caution | The sequence AAH07218.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB14559.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB84991.1 differs from that shown. Reason: Frameshift at position 1402. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasmic vesicle Endosome Lysosome |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Cataract Disease mutation |
| Domain | Coiled coil Zinc-finger |
| Ligand | Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | plus-end-directed vesicle transport along microtubule Inferred from mutant phenotype Ref.8. Source: UniProtKB |
| Cellular_component | autophagic vacuole Inferred from direct assay Ref.8. Source: UniProtKB cytoplasmic vesicleInferred from electronic annotation. Source: UniProtKB-KW integral to membraneInferred from electronic annotation. Source: InterPro late endosomeInferred from direct assay Ref.8. Source: UniProtKB lysosomeInferred from direct assay Ref.8. Source: UniProtKB |
| Molecular_function | metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GABARAP | O95166 | 2 | EBI-2869338,EBI-712001 | |
| GABARAPL1 | Q9H0R8 | 2 | EBI-2869338,EBI-746969 | |
| GABARAPL2 | P60520 | 2 | EBI-2869338,EBI-720116 | |
| MAP1LC3B | Q9GZQ8 | 7 | EBI-2869338,EBI-373144 | |
| MAP1LC3C | Q9BXW4 | 2 | EBI-2869338,EBI-2603996 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BQS8-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9BQS8-2) The sequence of this isoform differs from the canonical sequence as follows: 376-380: QQKAD → LHVGD 381-1478: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9BQS8-3) The sequence of this isoform differs from the canonical sequence as follows: 376-380: QQKAD → HLSE 381-1478: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1478 | 1478 | FYVE and coiled-coil domain-containing protein 1 | PRO_0000245837 | |||||
Regions | |||||||||
| Domain | 36 – 169 | 134 | RUN | ||||||
| Domain | 1337 – 1466 | 130 | GOLD | ||||||
| Zinc finger | 1173 – 1231 | 59 | FYVE-type | ||||||
| Coiled coil | 4 – 33 | 30 | Potential | ||||||
| Coiled coil | 225 – 280 | 56 | Potential | ||||||
| Coiled coil | 394 – 555 | 162 | Potential | ||||||
| Coiled coil | 596 – 1151 | 556 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 381 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 878 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 376 – 380 | 5 | QQKAD → LHVGD in isoform 2. | VSP_019795 | |||||
| Alternative sequence | 376 – 380 | 5 | QQKAD → HLSE in isoform 3. | VSP_019796 | |||||
| Alternative sequence | 381 – 1478 | 1098 | Missing in isoform 2 and isoform 3. | VSP_019797 | |||||
| Natural variant | 250 | 1 | R → Q. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs4683158 [ dbSNP | Ensembl ]. | VAR_027006 | |||||
| Natural variant | 282 | 1 | R → H. Corresponds to variant rs9875356 [ dbSNP | Ensembl ]. | VAR_027007 | |||||
| Natural variant | 321 | 1 | G → A. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs3733100 [ dbSNP | Ensembl ]. | VAR_027008 | |||||
| Natural variant | 381 | 1 | T → M. Corresponds to variant rs3733101 [ dbSNP | Ensembl ]. | VAR_027009 | |||||
| Natural variant | 447 | 1 | R → C. Corresponds to variant rs33910087 [ dbSNP | Ensembl ]. | VAR_056882 | |||||
| Natural variant | 679 | 1 | A → V. Ref.2 Corresponds to variant rs3796375 [ dbSNP | Ensembl ]. | VAR_027010 | |||||
| Natural variant | 994 | 1 | E → K. Corresponds to variant rs34801630 [ dbSNP | Ensembl ]. | VAR_056883 | |||||
| Natural variant | 1001 | 1 | N → D. Corresponds to variant rs13059238 [ dbSNP | Ensembl ]. | VAR_027011 | |||||
| Natural variant | 1376 | 1 | L → P in CATC2. Ref.9 | VAR_065974 | |||||
Experimental info | |||||||||
| Sequence conflict | 155 | 1 | Y → C in CAD91151. Ref.2 | ||||||
| Sequence conflict | 359 | 1 | D → G in CAD91151. Ref.2 | ||||||
| Sequence conflict | 365 | 1 | L → S in BAB14559. Ref.5 | ||||||
| Sequence conflict | 381 | 1 | T → S in CAC33883. Ref.1 | ||||||
| Sequence conflict | 916 | 1 | T → I in CAD89924. Ref.2 | ||||||
| Sequence conflict | 964 | 1 | K → E in CAD89924. Ref.2 | ||||||
| Sequence conflict | 1382 | 1 | A → P in CAC33883. Ref.1 | ||||||
| Sequence conflict | 1385 | 1 | G → A in CAC33883. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3." Kiss H., Yang Y., Kiss C., Andersson K., Klein G., Imreh S., Dumanski J.P. Eur. J. Hum. Genet. 10:52-61(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS GLN-250 AND ALA-321. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLN-250; ALA-321 AND VAL-679. Tissue: Skeletal muscle. |
| [3] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-1478 (ISOFORM 2), VARIANTS GLN-250 AND ALA-321. Tissue: Heart, Lung and Skin. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 56-1478 (ISOFORM 3), VARIANTS GLN-250 AND ALA-321. Tissue: Ovary. |
| [6] | "The nucleotide sequence of a long cDNA clone isolated from human spleen." Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1213-1478 (ISOFORM 1). Tissue: Spleen. |
| [7] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-878, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [8] | "FYCO1 is a Rab7 effector that binds to LC3 and PI3P to mediate microtubule plus end-directed vesicle transport." Pankiv S., Alemu E.A., Brech A., Bruun J.A., Lamark T., Overvatn A., Bjorkoy G., Johansen T. J. Cell Biol. 188:253-269(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, INTERACTION WITH MAP1LC3B AND RAB7A. |
| [9] | "Mutations in FYCO1 cause autosomal-recessive congenital cataracts." Chen J., Ma Z., Jiao X., Fariss R., Kantorow W.L., Kantorow M., Pras E., Frydman M., Pras E., Riazuddin S., Riazuddin S.A., Hejtmancik J.F. Am. J. Hum. Genet. 88:827-838(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, VARIANT CATC2 PRO-1376. |
| [10] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ292348 mRNA. Translation: CAC33883.1. AL833308 mRNA. Translation: CAD89924.1. AL832358 mRNA. Translation: CAD91151.1. AC099782 Genomic DNA. No translation available. BC007218 mRNA. Translation: AAH07218.1. Different initiation. BC101468 mRNA. Translation: AAI01469.1. BC101470 mRNA. Translation: AAI01471.1. AK023397 mRNA. Translation: BAB14559.1. Different initiation. AK074165 mRNA. Translation: BAB84991.1. Frameshift. |
| IPI | IPI00001580. IPI00760582. IPI00760784. |
| RefSeq | NP_078789.2. NM_024513.3. |
| UniGene | Hs.739775. Hs.741405. |
3D structure databases | |
| ProteinModelPortal | Q9BQS8. |
| SMR | Q9BQS8. Positions 32-173, 1137-1230, 1385-1469. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BQS8. 24 interactions. |
| STRING | 9606.ENSP00000296137. |
PTM databases | |
| PhosphoSite | Q9BQS8. |
Polymorphism databases | |
| DMDM | 110278986. |
Proteomic databases | |
| PaxDb | Q9BQS8. |
| PRIDE | Q9BQS8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296137; ENSP00000296137; ENSG00000163820. |
| GeneID | 79443. |
| KEGG | hsa:79443. |
| UCSC | uc003cpb.4. human. |
Organism-specific databases | |
| CTD | 79443. |
| GeneCards | GC03M045934. |
| H-InvDB | HIX0003244. |
| HGNC | HGNC:14673. FYCO1. |
| HPA | HPA035526. |
| MIM | 607182. gene. 610019. phenotype. |
| neXtProt | NX_Q9BQS8. |
| Orphanet | 98991. Nuclear cataract. |
| PharmGKB | PA28453. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG262828. |
| HOVERGEN | HBG063805. |
| InParanoid | Q9BQS8. |
| OrthoDB | EOG4SN1MW. |
| PhylomeDB | Q9BQS8. |
Gene expression databases | |
| ArrayExpress | Q9BQS8. |
| Bgee | Q9BQS8. |
| CleanEx | HS_FYCO1. |
| Genevestigator | Q9BQS8. |
| GermOnline | ENSG00000163820. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.40.10. 1 hit. |
| InterPro | IPR009038. GOLD. IPR004012. Run. IPR000306. Znf_FYVE. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. IPR013083. Znf_RING/FYVE/PHD. [Graphical view] |
| Pfam | PF01363. FYVE. 1 hit. PF02759. RUN. 1 hit. [Graphical view] |
| SMART | SM00064. FYVE. 1 hit. [Graphical view] |
| SUPFAM | SSF57903. FYVE_PHD_ZnF. 1 hit. SSF101576. GOLD. 1 hit. |
| PROSITE | PS50866. GOLD. 1 hit. PS50826. RUN. 1 hit. PS50178. ZF_FYVE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | FYCO1. human. |
| GenomeRNAi | 79443. |
| NextBio | 68403. |
| SOURCE | Search... |
Entry information
| Entry name | FYCO1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BQS8 Secondary accession number(s): Q3MJE6 Q9H8P9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
