ID:CP250_HUMAN DESCRIPTION: RecName: Full=Centrosome-associated protein CEP250; AltName: Full=250 kDa centrosomal protein; Short=Cep250; AltName: Full=Centrosomal Nek2-associated protein 1; Short=C-Nap1; AltName: Full=Centrosomal protein 2; FUNCTION: Probably plays an important role in centrosome cohesion during interphase. SUBUNIT: Monomer and homodimer (Probable). Interacts with CROCC/rootletin (By similarity). Forms a complex in vitro with both NEK2 kinase and the PPP1CC catalytic subunit of protein phosphatase 1 (PP1). Interacts with CEP135. INTERACTION: Q9H0K1:SIK2; NbExp=5; IntAct=EBI-1053100, EBI-1181664; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes. In photoreceptors, found at the proximal ends of basal bodies. TISSUE SPECIFICITY: Ubiquitously and weakly expressed. PTM: Differentially phosphorylated during cell cycle. Phosphorylation may regulate association/dissociation from centrosome. During M phase of mitosis, C-terminal part is phosphorylated by NEK2, suggesting that it may trigger the dissociation from the mitotic centrosome. Dephosphorylated in vitro by the PP1 phosphatase. MISCELLANEOUS: Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BV73
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0008022 protein C-terminus binding GO:0019901 protein kinase binding GO:0019904 protein domain specific binding
Biological Process: GO:0000086 G2/M transition of mitotic cell cycle GO:0000278 mitotic cell cycle GO:0007049 cell cycle GO:0008104 protein localization GO:0010389 regulation of G2/M transition of mitotic cell cycle GO:0010457 centriole-centriole cohesion GO:0030997 regulation of centriole-centriole cohesion GO:0033365 protein localization to organelle GO:0097711 ciliary basal body docking GO:1904781 positive regulation of protein localization to centrosome GO:1905515 non-motile cilium assembly
AF049105 - Homo sapiens centrosomal Nek2-associated protein 1 (C-NAP1) mRNA, complete cds. AF022655 - Homo sapiens cep250 centrosome associated protein mRNA, complete cds. BC144706 - Homo sapiens cDNA clone IMAGE:9053243. BC172439 - Synthetic construct Homo sapiens clone IMAGE:100069133, MGC:199144 centrosomal protein 250kDa (CEP250) mRNA, encodes complete protein. AK307861 - Homo sapiens cDNA, FLJ97809. AB621828 - Homo sapiens CEP250 mRNA for centrosomal protein 250kDa, partial cds, clone: HP08898-RBdS015I06. AK297572 - Homo sapiens cDNA FLJ61321 complete cds, highly similar to Centrosome-associated protein CEP250. JD129365 - Sequence 110389 from Patent EP1572962. BC071869 - Homo sapiens centrosomal protein 250kDa, mRNA (cDNA clone IMAGE:4892243), complete cds. JD078025 - Sequence 59049 from Patent EP1572962. BC001433 - Homo sapiens centrosomal protein 250kDa, mRNA (cDNA clone IMAGE:3138798), containing frame-shift errors. JD344618 - Sequence 325642 from Patent EP1572962. JD196378 - Sequence 177402 from Patent EP1572962. JD133191 - Sequence 114215 from Patent EP1572962. JD498495 - Sequence 479519 from Patent EP1572962. JD524673 - Sequence 505697 from Patent EP1572962. JD414455 - Sequence 395479 from Patent EP1572962. JD514407 - Sequence 495431 from Patent EP1572962. JD310284 - Sequence 291308 from Patent EP1572962. JD205410 - Sequence 186434 from Patent EP1572962. JD098005 - Sequence 79029 from Patent EP1572962. JD238998 - Sequence 220022 from Patent EP1572962. JD335700 - Sequence 316724 from Patent EP1572962. JD122152 - Sequence 103176 from Patent EP1572962. JD500238 - Sequence 481262 from Patent EP1572962. JD046207 - Sequence 27231 from Patent EP1572962. JD048238 - Sequence 29262 from Patent EP1572962. JD353488 - Sequence 334512 from Patent EP1572962. JD539468 - Sequence 520492 from Patent EP1572962. JD445402 - Sequence 426426 from Patent EP1572962. JD470247 - Sequence 451271 from Patent EP1572962. JD145773 - Sequence 126797 from Patent EP1572962. JD322065 - Sequence 303089 from Patent EP1572962. JD367484 - Sequence 348508 from Patent EP1572962. JD225423 - Sequence 206447 from Patent EP1572962. JD414672 - Sequence 395696 from Patent EP1572962. JD425260 - Sequence 406284 from Patent EP1572962. JD069174 - Sequence 50198 from Patent EP1572962. JD138201 - Sequence 119225 from Patent EP1572962. JD431078 - Sequence 412102 from Patent EP1572962. JD532363 - Sequence 513387 from Patent EP1572962. JD558885 - Sequence 539909 from Patent EP1572962. JD125750 - Sequence 106774 from Patent EP1572962. JD138820 - Sequence 119844 from Patent EP1572962. JD211162 - Sequence 192186 from Patent EP1572962. JD217612 - Sequence 198636 from Patent EP1572962. JD138312 - Sequence 119336 from Patent EP1572962. JD175928 - Sequence 156952 from Patent EP1572962. JD366757 - Sequence 347781 from Patent EP1572962. JD518089 - Sequence 499113 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BV73 (Reactome details) participates in the following event(s):
R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-380287 Centrosome maturation R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-5617833 Cilium Assembly R-HSA-69275 G2/M Transition R-HSA-68877 Mitotic Prometaphase R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-453274 Mitotic G2-G2/M phases R-HSA-68886 M Phase R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
