ENSG00000126001


Homo sapiens

Features
Gene ID: ENSG00000126001
  
Biological name :CEP250
  
Synonyms : centrosomal protein 250 / CEP250 / Q9BV73
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q11.22
Gene start: 35455164
Gene end: 35519280
  
Corresponding Affymetrix probe sets: 209495_at (Human Genome U133 Plus 2.0 Array)   210894_s_at (Human Genome U133 Plus 2.0 Array)   236424_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400200
Ensembl peptide - ENSP00000398747
Ensembl peptide - ENSP00000413827
Ensembl peptide - ENSP00000482323
Ensembl peptide - ENSP00000419137
Ensembl peptide - ENSP00000414651
Ensembl peptide - ENSP00000380658
Ensembl peptide - ENSP00000380661
Ensembl peptide - ENSP00000394346
Ensembl peptide - ENSP00000395992
NCBI entrez gene - 11190     See in Manteia.
OMIM - 609689
RefSeq - XM_017027619
RefSeq - XM_005260263
RefSeq - XM_005260264
RefSeq - XM_006723690
RefSeq - XM_006723691
RefSeq - XM_006723692
RefSeq - XM_006723693
RefSeq - XM_006723694
RefSeq - XM_011528517
RefSeq - XM_011528518
RefSeq - XM_011528519
RefSeq - XM_017027617
RefSeq - XM_017027618
RefSeq - NM_001318219
RefSeq - NM_007186
RefSeq - XM_005260262
RefSeq Peptide - NP_001305148
RefSeq Peptide - NP_009117
swissprot - A6PVI9
swissprot - H0Y5R2
swissprot - H7C0D6
swissprot - H7C0P0
swissprot - Q9BV73
swissprot - A0A087WZ34
swissprot - Q5JWS5
swissprot - E9PHT2
swissprot - Q5JWS6
swissprot - E7ETF9
Ensembl - ENSG00000126001
  
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:dkey-230p4.1ENSDARG00000020834Danio rerio
 CEP250ENSGALG00000026151Gallus gallus
 Cep250ENSMUSG00000038241Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CROCC / Q5TZA2 / ciliary rootlet coiled-coil, rootletinENSG0000005845324
CROCC2 / H7BZ55 / ciliary rootlet coiled-coil, rootletin family member 2ENSG0000022632117


Protein motifs (from Interpro)
Interpro ID Name
 IPR026048  Centrosome-associated protein CEP250


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000278 mitotic cell cycle IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0010457 centriole-centriole cohesion IMP
 biological_processGO:0030997 regulation of centriole-centriole cohesion IDA
 biological_processGO:0033365 protein localization to organelle IMP
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 biological_processGO:1904781 positive regulation of protein localization to centrosome IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005815 microtubule organizing center NAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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