ENSG00000117724


Homo sapiens

Features
Gene ID: ENSG00000117724
  
Biological name :CENPF
  
Synonyms : CENPF / centromere protein F / P49454
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q41
Gene start: 214603195
Gene end: 214664588
  
Corresponding Affymetrix probe sets: 207331_at (Human Genome U133 Plus 2.0 Array)   207828_s_at (Human Genome U133 Plus 2.0 Array)   209172_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478221
Ensembl peptide - ENSP00000355922
NCBI entrez gene - 1063     See in Manteia.
OMIM - 600236
RefSeq - XM_017000086
RefSeq - NM_016343
RefSeq - XM_011509082
RefSeq Peptide - NP_057427
swissprot - P49454
swissprot - A0A087WTY4
Ensembl - ENSG00000117724
  
Related genetic diseases (OMIM): 243605 - Stromme syndrome, 243605
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
 si:dkeyp-115e12.6ENSDARG00000090986Danio rerio
 CENPFENSGALG00000009690Gallus gallus
 CenpfENSMUSG00000026605Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR018302  Kinetochore protein Cenp-F/LEK1, Rb protein-binding domain
 IPR018463  Centromere protein Cenp-F, N-terminal
 IPR019513  Centromere protein Cenp-F, leucine-rich repeat-containing domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000278 mitotic cell cycle IMP
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007059 chromosome segregation NAS
 biological_processGO:0007062 sister chromatid cohesion TAS
 biological_processGO:0007094 mitotic spindle assembly checkpoint NAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0008283 cell proliferation NAS
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle IMP
 biological_processGO:0015031 protein transport IMP
 biological_processGO:0016202 regulation of striated muscle tissue development IEA
 biological_processGO:0021591 ventricular system development IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042493 response to drug NAS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051310 metaphase plate congression IDA
 biological_processGO:0051382 kinetochore assembly NAS
 biological_processGO:0051726 regulation of cell cycle TAS
 biological_processGO:0071897 DNA biosynthetic process IEA
 cellular_componentGO:0000775 chromosome, centromeric region IEA
 cellular_componentGO:0000776 kinetochore IEA
 cellular_componentGO:0000777 condensed chromosome kinetochore IEA
 cellular_componentGO:0000785 chromatin NAS
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0000940 condensed chromosome outer kinetochore TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005930 axoneme IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0045120 pronucleus IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0097539 ciliary transition fiber IMP
 molecular_functionGO:0003682 chromatin binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0070840 dynein complex binding IDA


Pathways (from Reactome)
Pathway description
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Polo-like kinase mediated events
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase


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]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0002247 Duodenal atresia "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator]
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 HP:0003826 Stillborn or neonatal death 
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 HP:0012584 Bilateral renal hypoplasia "Two sided `hypoplasia` (MPATH:133) of the `kidney` (FMA:7203)." [Eurenomics:fschaefer]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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