CEP250

CEP250
Identifiers
Aliases	CEP250, C-NAP1, CEP2, CNAP1, centrosomal protein 250, CRDHL2
External IDs	OMIM: 609689 MGI: 108084 HomoloGene: 38286 GeneCards: CEP250
Gene location (Human)
Chr.	Chromosome 20 (human)
End	35,519,280 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	155,840,820 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; ganglionic eminence; ; stromal cell of endometrium; ; cerebellar hemisphere; ; Achilles tendon; ; lymph node; ; spleen; ; right uterine tube; ; skin of abdomen; ; prefrontal cortex;
	Top expressed in
	yolk sac; ; thymus; ; Jacobson's organ; ; secondary oocyte; ; superior frontal gyrus; ; cerebellar cortex; ; lip; ; neural tube; ; proximal tubule; ; external carotid artery;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein domain specific binding; protein C-terminus binding; protein binding; protein kinase binding;
Cellular component	cytoplasm; cytosol; centrosome; cell projection; cilium; microtubule organizing center; perinuclear region of cytoplasm; centriole; extracellular exosome; cytoskeleton; protein-containing complex;
Biological process	protein localization to organelle; protein localization; regulation of centriole-centriole cohesion; centriole-centriole cohesion; G2/M transition of mitotic cell cycle; cell cycle; mitotic cell cycle; ciliary basal body-plasma membrane docking; positive regulation of protein localization to centrosome; non-motile cilium assembly; regulation of G2/M transition of mitotic cell cycle;
	Sources:Amigo / QuickGO
Orthologs
	11190
	16328
	ENSG00000126001
	ENSMUSG00000038241
	Q9BV73
	Q60952
	NM_001035518; NM_007186; NM_001318219
	NM_001129999; NM_001130000; NM_008383; NM_177217
	NP_001305148; NP_009117
	NP_001123471; NP_001123472; NP_032409; NP_796191
	Wikidata
View/Edit Human	View/Edit Mouse

Centrosome-associated protein CEP250 is a protein that in humans is encoded by the CEP250 gene.^[5]^[6]^[7] This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome.^[7] Furthermore, CEP135 is also required for the centriolar localization of CEP250.^[8]

References

^ a b c GRCh38: Ensembl release 89: ENSG00000126001 – Ensembl, May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038241 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mack GJ, Rees J, Sandblom O, Balczon R, Fritzler MJ, Rattner JB (Apr 1998). "Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome". Arthritis Rheum. 41 (3): 551–8. doi:10.1002/1529-0131(199803)41:3<551::AID-ART22>3.0.CO;2-X. PMID 9506584.
^ Fry AM, Mayor T, Meraldi P, Stierhof YD, Tanaka K, Nigg EA (Aug 1998). "C-Nap1, a Novel Centrosomal Coiled-Coil Protein and Candidate Substrate of the Cell Cycle–regulated Protein Kinase Nek2". J Cell Biol. 141 (7): 1563–74. doi:10.1083/jcb.141.7.1563. PMC 2133000. PMID 9647649.
^ a b "Entrez Gene: CEP250 centrosomal protein 250kDa".
^ Kim K, Lee S, Chang J, Rhee K (December 2008). "A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization". Exp. Cell Res. 314 (20): 3692–700. doi:10.1016/j.yexcr.2008.09.016. PMID 18851962.

External links

Human CEP250 genome location and CEP250 gene details page in the UCSC Genome Browser.

Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
Faragher AJ, Fry AM (2004). "Nek2A kinase stimulates centrosome disjunction and is required for formation of bipolar mitotic spindles". Mol. Biol. Cell. 14 (7): 2876–89. doi:10.1091/mbc.E03-02-0108. PMC 165683. PMID 12857871.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Mayor T, Hacker U, Stierhof YD, Nigg EA (2003). "The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles". J. Cell Sci. 115 (Pt 16): 3275–84. doi:10.1242/jcs.115.16.3275. PMID 12140259.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
Mayor T, Stierhof YD, Tanaka K, et al. (2000). "The Centrosomal Protein C-Nap1 Is Required for Cell Cycle–Regulated Centrosome Cohesion". J. Cell Biol. 151 (4): 837–46. doi:10.1083/jcb.151.4.837. PMC 2169446. PMID 11076968.
Hirsch DS, Pirone DM, Burbelo PD (2001). "A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes". J. Biol. Chem. 276 (2): 875–83. doi:10.1074/jbc.M007039200. PMID 11035016.
Helps NR, Luo X, Barker HM, Cohen PT (2001). "NIMA-related kinase 2 (Nek2), a cell-cycle-regulated protein kinase localized to centrosomes, is complexed to protein phosphatase 1". Biochem. J. 349 (Pt 2): 509–18. doi:10.1042/0264-6021:3490509. PMC 1221174. PMID 10880350.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000126001 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038241 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9506584-5] Mack GJ, Rees J, Sandblom O, Balczon R, Fritzler MJ, Rattner JB (Apr 1998). "Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome". Arthritis Rheum. 41 (3): 551–8. doi:10.1002/1529-0131(199803)41:3<551::AID-ART22>3.0.CO;2-X. PMID 9506584.

[pmid9647649-6] Fry AM, Mayor T, Meraldi P, Stierhof YD, Tanaka K, Nigg EA (Aug 1998). "C-Nap1, a Novel Centrosomal Coiled-Coil Protein and Candidate Substrate of the Cell Cycle–regulated Protein Kinase Nek2". J Cell Biol. 141 (7): 1563–74. doi:10.1083/jcb.141.7.1563. PMC 2133000. PMID 9647649.

[entrez-7] "Entrez Gene: CEP250 centrosomal protein 250kDa".

[pmid18851962-8] Kim K, Lee S, Chang J, Rhee K (December 2008). "A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization". Exp. Cell Res. 314 (20): 3692–700. doi:10.1016/j.yexcr.2008.09.016. PMID 18851962.

v t e The centrosome and its components
Centrioles	SASS6 CENPJ CNTROB CEP104 Centrins (CETN1, CETN2 and CETN3) SFI1
Pericentriolar material	BBS4 Lck PCM1 PCNT TNKS TNKS2 TUBE1
other proteins	CCP110 CEP55 CEP57 CEP63 CEP68 CEP70 CEP72 CEP76 CEP78 CEP90 CEP97 CEP120 CEP135 CEP152 CEP164 CEP170 CEP192 CEP215 CEP250 CEP350 CNTRL NIN NINL

CEP250

References

External links

Further reading