Reviewed,
UniProtKB/Swiss-Prot Q9BV73 (CP250_HUMAN)
Last modified
November 4, 2008.
Version 61.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: Centrosome-associated protein CEP250 Alternative name(s): Centrosomal protein 2 Centrosomal Nek2-associated protein 1 Short name=C-Nap1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2442 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probably plays an important role in centrosome cohesion during interphase. |
| Subunit structure | 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). |
| Subcellular location | Cytoplasm › perinuclear region. Centrosome › centriole. Cell projection › 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. |
| Post-translational modification | 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. |
| Involvement in disease | Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins. |
Ontologies
Keywords | |
|---|---|
| Biological process | Cell cycle |
| Cellular component | Cell projection Cilium Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | mitotic cell cycle Ref.6 Inferred from direct assay. Source: UniProtKB regulation of centriole-centriole cohesion Ref.2Inferred from direct assay. Source: UniProtKB |
| Cellular component | centrosome Ref.2 Inferred from direct assay. Source: UniProtKB |
| Molecular function | protein kinase binding Ref.2 Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BV73-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9BV73-2) The sequence of this isoform differs from the canonical sequence as follows: 863-918: Missing. | ||||||
| Isoform 3 (identifier: Q9BV73-3) The sequence of this isoform differs from the canonical sequence as follows: 313-313: V → F 314-2442: Missing. | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2442 | 2442 | Centrosome-associated protein CEP250 | PRO_0000089487 | |||||
Regions | |||||||||
| Coiled coil | 95 – 158 | 64 | Potential | ||||||
| Coiled coil | 244 – 352 | 109 | Potential | ||||||
| Coiled coil | 395 – 1172 | 778 | Potential | ||||||
| Coiled coil | 1243 – 2227 | 985 | Potential | ||||||
| Coiled coil | 2262 – 2376 | 115 | Potential | ||||||
| Compositional bias | 246 – 250 | 5 | Poly-Leu | ||||||
| Compositional bias | 464 – 2171 | 1708 | Gln/Glu-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 313 | 1 | V → F in isoform 3. | VSP_007370 | |||||
| Alternative sequence | 314 – 2442 | 2129 | Missing in isoform 3. | VSP_007371 | |||||
| Alternative sequence | 863 – 918 | 56 | Missing in isoform 2. | VSP_007372 | |||||
| Natural variant | 995 | 1 | Q → H: dbSNP rs2296403. | VAR_015649 | |||||
| Natural variant | 1441 | 1 | R → Q: dbSNP rs3748433. | VAR_021858 | |||||
Experimental info | |||||||||
| Sequence conflict | 120 | 1 | L → I in AAC06349. Ref.1 | ||||||
| Sequence conflict | 136 | 1 | E → A in AAC06349. Ref.1 | ||||||
| Sequence conflict | 365 | 1 | H → L in AAC06349. Ref.1 | ||||||
| Sequence conflict | 372 | 1 | D → E in AAC06349. Ref.1 | ||||||
| Sequence conflict | 509 | 1 | E → D in AAC07988. Ref.2 | ||||||
| Sequence conflict | 552 | 1 | S → I in AAC06349. Ref.1 | ||||||
| Sequence conflict | 757 | 1 | E → A in AAC06349. Ref.1 | ||||||
| Sequence conflict | 784 – 787 | 4 | EVTK → DEPQ in AAC06349. Ref.1 | ||||||
| Sequence conflict | 1153 | 1 | Q → H in AAC06349. Ref.1 | ||||||
| Sequence conflict | 1246 | 1 | H → L in AAC06349. Ref.1 | ||||||
| Sequence conflict | 1513 | 1 | L → P in AAC06349. Ref.1 | ||||||
| Sequence conflict | 2082 | 1 | Q → L in AAC06349. Ref.1 | ||||||
| Sequence conflict | 2345 | 1 | D → N in AAC06349. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome." Mack G.J., Rees J., Sandblom O., Balczon R., Fritzler M.J., Rattner J.B. Arthritis Rheum. 41:551-558(1998) [PubMed: 9506584] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN AUTOIMMUNE DISEASE. Tissue: Cervix carcinoma. |
| [2] | "C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2." Fry A.M., Mayor T., Meraldi P., Stierhof Y.-D., Tanaka K., Nigg E.A. J. Cell Biol. 141:1563-1574(1998) [PubMed: 9647649] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH NEK2, SUBCELLULAR LOCATION DURING THE CELL CYCLE. Tissue: Placenta. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. Rogers J.Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta. |
| [5] | "NIMA-related kinase 2 (Nek2), a cell-cycle-regulated protein kinase localized to centrosomes, is complexed to protein phosphatase 1." Helps N.R., Luo X., Barker H.M., Cohen P.T.W. Biochem. J. 349:509-518(2000) [PubMed: 10880350] [Abstract] Cited for: PHOSPHORYLATION, INTERACTION WITH NEK2 AND PPP1CA. |
| [6] | "The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles." Mayor T., Hacker U., Stierhof Y.-D., Nigg E.A. J. Cell Sci. 115:3275-3284(2002) [PubMed: 12140259] [Abstract] Cited for: PHOSPHORYLATION DURING CELL CYCLE. |
Cross-references
Sequence databases | |
|---|---|
| AF022655 mRNA. Translation: AAC06349.1. AF049105 mRNA. Translation: AAC07988.1. AL121586 Genomic DNA. Translation: CAB89415.1. BC001433 mRNA. Translation: AAH01433.1. | |
| PIR | T08621. |
| RefSeq | NP_001030595.1. NP_009117.2. |
| UniGene | Hs.443976 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1IC2 based on UniProtKB P04268. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BV73. |
PTM databases | |
| PhosphoSite | Q9BV73. |
Genome annotation databases | |
| Ensembl | ENSG00000126001. Homo sapiens. [Contig view] |
| GeneID | 11190. |
| KEGG | hsa:11190. |
Organism-specific databases | |
| H-InvDB | HIX0015764. |
| HGNC | HGNC:1859. CEP250. |
| MIM | 609689. gene. |
| PharmGKB | PA26415. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9BV73. |
Gene expression databases | |
| ArrayExpress | Q9BV73. |
| CleanEx | HS_CEP250. |
| GermOnline | ENSG00000126001. Homo sapiens. |
Family and domain databases | |
| BLOCKS | Search... |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 42595. |
| SOURCE | Search... |
Entry information
| Entry name | CP250_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BV73 Secondary accession number(s): O14812, O60588, Q9H450 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |

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