ENSG00000163820


Homo sapiens

Features
Gene ID: ENSG00000163820
  
Biological name :FYCO1
  
Synonyms : FYCO1 / FYVE and coiled-coil domain containing 1 / Q9BQS8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p21.31
Gene start: 45917899
Gene end: 45995824
  
Corresponding Affymetrix probe sets: 1555523_a_at (Human Genome U133 Plus 2.0 Array)   218204_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000441178
Ensembl peptide - ENSP00000296137
Ensembl peptide - ENSP00000388136
Ensembl peptide - ENSP00000398517
NCBI entrez gene - 79443     See in Manteia.
OMIM - 607182
RefSeq - XM_011534111
RefSeq - NM_024513
RefSeq - XM_006713333
RefSeq - XM_006713334
RefSeq Peptide - NP_078789
swissprot - Q9BQS8
swissprot - H7BZ74
swissprot - C9J2W6
Ensembl - ENSG00000163820
  
Related genetic diseases (OMIM): 610019 - Cataract 18, autosomal recessive, 610019
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fyco1aENSDARG00000104500Danio rerio
 fyco1bENSDARG00000078022Danio rerio
 FYCO1ENSGALG00000040212Gallus gallus
 Fyco1ENSMUSG00000025241Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EEA1 / Q15075 / early endosome antigen 1ENSG0000010218915
RUFY4 / Q6ZNE9 / RUN and FYVE domain containing 4ENSG0000018828212


Protein motifs (from Interpro)
Interpro ID Name
 IPR000306  FYVE zinc finger
 IPR002423  Chaperonin Cpn60/TCP-1 family
 IPR004012  RUN domain
 IPR009038  GOLD domain
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017455  Zinc finger, FYVE-related
 IPR036598  GOLD domain superfamily
 IPR037213  RUN domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006458 "de novo" protein folding IBA
 biological_processGO:0061077 chaperone-mediated protein folding IBA
 biological_processGO:0072383 plus-end-directed vesicle transport along microtubule IMP
 biological_processGO:1901098 positive regulation of autophagosome maturation IMP
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0044183 protein binding involved in protein folding IBA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051082 unfolded protein binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr