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UniProtKB/Swiss-Prot entry Q9BV73


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name CP250_HUMAN
Primary accession number Q9BV73
Secondary accession numbers O14812 O60588 Q9H450
Integrated into Swiss-Prot on May 9, 2003
Sequence was last modified on May 9, 2003 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 60)
Name and origin of the protein
Protein name Centrosome-associated protein CEP250
Synonyms Centrosomal protein 2
Centrosomal Nek2-associated protein 1
C-Nap1
Gene name
Name: CEP250
Synonyms: CEP2, CNAP1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INVOLVEMENT IN AUTOIMMUNE DISEASE.
TISSUE=Cervix carcinoma;
DOI=10.1002/1529-0131(199803)41:3<551::AID-ART22>3.0.CO;2-X; PubMed=9506584 [NCBI, ExPASy, EBI, Israel, Japan]
Mack G.J., Rees J., Sandblom O., Balczon R., Fritzler M.J., Rattner J.B.;
"Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome.";
Arthritis Rheum. 41:551-558(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INTERACTION WITH NEK2, AND SUBCELLULAR LOCATION DURING THE CELL CYCLE.
TISSUE=Placenta;
DOI=10.1083/jcb.141.7.1563; PubMed=9647649 [NCBI, ExPASy, EBI, Israel, Japan]
Fry A.M., Mayor T., Meraldi P., Stierhof Y.-D., Tanaka K., Nigg E.A.;
"C-Nap1, a novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2.";
J. Cell Biol. 141:1563-1574(1998).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
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., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
PHOSPHORYLATION, AND INTERACTION WITH NEK2 AND PPP1CA.
DOI=10.1042/0264-6021:3490509; PubMed=10880350 [NCBI, ExPASy, EBI, Israel, Japan]
Helps N.R., Luo X., Barker H.M., Cohen P.T.W.;
"NIMA-related kinase 2 (Nek2), a cell-cycle-regulated protein kinase localized to centrosomes, is complexed to protein phosphatase 1.";
Biochem. J. 349:509-518(2000).
[6]
PHOSPHORYLATION DURING CELL CYCLE.
PubMed=12140259 [NCBI, ExPASy, EBI, Israel, Japan]
Mayor T., Hacker U., Stierhof Y.-D., Nigg E.A.;
"The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles.";
J. Cell Sci. 115:3275-3284(2002).
Comments
  • 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).
  • 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.
  • ALTERNATIVE PRODUCTS: 3 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDQ9BV73-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDQ9BV73-2
    Features which should be applied to build the isoform sequence: VSP_007372.
    Name3
    Isoform IDQ9BV73-3
    Note: No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_007370, VSP_007371.
  • 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.
  • DISEASE: Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF022655; AAC06349.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF049105; AAC07988.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL121586; CAB89415.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC001433; AAH01433.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR T08621; T08621.
RefSeq NP_001030595.1; -.
NP_009117.2; -.
UniGene Hs.443976
3D structure databases
HSSP P04268; 1IC2. [HSSP ENTRY / PDB]
ModBase Q9BV73.
Protein-protein interaction databases
IntAct Q9BV73; -.
PTM databases
PhosphoSite Q9BV73; -.
Organism-specific databases
H-InvDB HIX0015764; -.
HGNC HGNC:1859; CEP250.
GenAtlas CEP250.
MIM 609689; gene. [NCBI / EBI]
PharmGKB PA26415; -.
GeneCards Q9BV73.
Gene expression databases
ArrayExpress Q9BV73; -.
CleanEx HS_CEP250; -.
GermOnline ENSG00000126001; Homo sapiens.
Ontologies
GO
GO:0005813; Cellular component: centrosome (inferred from direct assay from UniProtKB).
GO:0019901; Molecular function: protein kinase binding (inferred from physical interaction from UniProtKB).
GO:0000278; Biological process: mitotic cell cycle (inferred from direct assay from UniProtKB).
GO:0030997; Biological process: regulation of centriole-centriole cohesion (inferred from direct assay from UniProtKB).
QuickGo view.
Family and domain databases
BLOCKS Q9BV73.
Genome annotation databases
Ensembl ENSG00000126001; Homo sapiens. [Contig view]
GeneID 11190; -.
KEGG hsa:11190; -.
Phylogenomic databases
HOVERGEN Q9BV73; -.
Other
SOURCE CEP250; Homo sapiens.
ProtoNet Q9BV73.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Cell cycle; Cell projection; Cilium; Coiled coil; Cytoplasm; Phosphoprotein; Polymorphism.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   2442  2442     Centrosome-associated protein CEP250. PRO_0000089487
COILED   95    158  64     Potential. 
COILED   244    352  109     Potential. 
COILED   395   1172  778     Potential. 
COILED   1243   2227  985     Potential. 
COILED   2262   2376  115     Potential. 
COMPBIAS   246    250  5     Poly-Leu. 
COMPBIAS   464   2171  1708     Gln/Glu-rich. 
VAR_SEQ   313    313        V -> F (in isoform 3). VSP_007370
VAR_SEQ   314   2442        Missing (in isoform 3). VSP_007371
VAR_SEQ   863    918        Missing (in isoform 2). VSP_007372
VARIANT   995    995  1     Q -> H (in dbSNP:rs2296403 [NCBI]). VAR_015649 
VARIANT   1441   1441  1     R -> Q (in dbSNP:rs3748433 [NCBI]). VAR_021858 
CONFLICT   120    120        L -> I (in Ref. 1; AAC06349). 
CONFLICT   136    136        E -> A (in Ref. 1; AAC06349). 
CONFLICT   365    365        H -> L (in Ref. 1; AAC06349). 
CONFLICT   372    372        D -> E (in Ref. 1; AAC06349). 
CONFLICT   509    509        E -> D (in Ref. 2; AAC07988). 
CONFLICT   552    552        S -> I (in Ref. 1; AAC06349). 
CONFLICT   757    757        E -> A (in Ref. 1; AAC06349). 
CONFLICT   784    787        EVTK -> DEPQ (in Ref. 1; AAC06349). 
CONFLICT   1153   1153        Q -> H (in Ref. 1; AAC06349). 
CONFLICT   1246   1246        H -> L (in Ref. 1; AAC06349). 
CONFLICT   1513   1513        L -> P (in Ref. 1; AAC06349). 
CONFLICT   2082   2082        Q -> L (in Ref. 1; AAC06349). 
CONFLICT   2345   2345        D -> N (in Ref. 1; AAC06349). 
Sequence information
Length: 2442 AA [This is the length of the unprocessed precursor] Molecular weight: 281137 Da [This is the MW of the unprocessed precursor] CRC64: BC2B8A36E07B8272 [This is a checksum on the sequence]
        10         20         30         40         50         60 
METRSPGLNN MKPQSLQLVL EEQVLALQQQ MAENQAASWR KLKNSQEAQQ RQATLVRKLQ 

        70         80         90        100        110        120 
AKVLQYRSWC QELEKRLEAT GGPIPQRWEN VEEPNLDELL VRLEEEQQRC ESLAEVNTQL 

       130        140        150        160        170        180 
RLHMEKADVV NKALREDVEK LTVDWSRARD ELMRKESQWQ MEQEFFKGYL KGEHGRLLSL 

       190        200        210        220        230        240 
WREVVTFRRH FLEMKSATDR DLMELKAEHV RLSGSLLTCC LRLTVGAQSR EPNGSGRMDG 

       250        260        270        280        290        300 
REPAQLLLLL AKTQELEKEA HERSQELIQL KSQGDLEKAE LQDRVTELSA LLTQSQKQNE 

       310        320        330        340        350        360 
DYEKMIKALR ETVEILETNH TELMEHEASL SRNAQEEKLS LQQVIKDITQ VMVEEGDNIA 

       370        380        390        400        410        420 
QGSGHENSLE LDSSIFSQFD YQDADKALTL VRSVLTRRRQ AVQDLRQQLA GCQEAVNLLQ 

       430        440        450        460        470        480 
QQHDQWEEEG KALRQRLQKL TGERDTLAGQ TVDLQGEVDS LSKERELLQK AREELRQQLE 

       490        500        510        520        530        540 
VLEQEAWRLR RVNVELQLQG DSAQGQKEEQ QEELHLAVRE RERLQEMLMG LEAKQSESLS 

       550        560        570        580        590        600 
ELITLREALE SSHLEGELLR QEQTEVTAAL ARAEQSIAEL SSSENTLKTE VADLRAAAVK 

       610        620        630        640        650        660 
LSALNEALAL DKVGLNQQLL QLEEENQSVC SRMEAAEQAR NALQVDLAEA EKRREALWEK 

       670        680        690        700        710        720 
NTHLEAQLQK AEEAGAELQA DLRDIQEEKE EIQKKLSESR HQQEAATTQL EQLHQEAKRQ 

       730        740        750        760        770        780 
EEVLARAVQE KEALVREKAA LEVRLQAVER DRQDLAEQLQ GLSSAKELLE SSLFEAQQQN 

       790        800        810        820        830        840 
SVIEVTKGQL EVQIQTVTQA KEVIQGEVRC LKLELDTERS QAEQERDAAA RQLAQAEQEG 

       850        860        870        880        890        900 
KTALEQQKAA HEKEVNQLRE KWEKERSWHQ QELAKALESL EREKMELEMR LKEQQTEMEA 

       910        920        930        940        950        960 
IQAQREEERT QAESALCQMQ LETEKERVSL LETLLQTQKE LADASQQLER LRQDMKVQKL 

       970        980        990       1000       1010       1020 
KEQETTGILQ TQLQEAQREL KEAARQHRDD LAALQEESSS LLQDKMDLQK QVEDLKSQLV 

      1030       1040       1050       1060       1070       1080 
AQDDSQRLVE QEVQEKLRET QEYNRIQKEL EREKASLTLS LMEKEQRLLV LQEADSIRQQ 

      1090       1100       1110       1120       1130       1140 
ELSALRQDMQ EAQGEQKELS AQMELLRQEV KEKEADFLAQ EAQLLEELEA SHITEQQLRA 

      1150       1160       1170       1180       1190       1200 
SLWAQEAKAA QLQLRLRSTE SQLEALAAEQ QPGNQAQAQA QLASLYSALQ QALGSVCESR 

      1210       1220       1230       1240       1250       1260 
PELSGGGDSA PSVWGLEPDQ NGARSLFKRG PLLTALSAEA VASALHKLHQ DLWKTQQTRD 

      1270       1280       1290       1300       1310       1320 
VLRDQVQKLE ERLTDTEAEK SQVHTELQDL QRQLSQNQEE KSKWEGKQNS LESELMELHE 

      1330       1340       1350       1360       1370       1380 
TMASLQSRLR RAELQRMEAQ GERELLQAAK ENLTAQVEHL QAAVVEARAQ ASAAGILEED 

      1390       1400       1410       1420       1430       1440 
LRTARSALKL KNEEVESERE RAQALQEQGE LKVAQGKALQ ENLALLTQTL AEREEEVETL 

      1450       1460       1470       1480       1490       1500 
RGQIQELEKQ REMQKAALEL LSLDLKKRNQ EVDLQQEQIQ ELEKCRSVLE HLPMAVQERE 

      1510       1520       1530       1540       1550       1560 
QKLTVQREQI RELEKDRETQ RNVLEHQLLE LEKKDQMIES QRGQVQDLKK QLVTLECLAL 

      1570       1580       1590       1600       1610       1620 
ELEENHHKME CQQKLIKELE GQRETQRVAL THLTLDLEER SQELQAQSSQ IHDLESHSTV 

      1630       1640       1650       1660       1670       1680 
LARELQERDQ EVKSQREQIE ELQRQKEHLT QDLERRDQEL MLQKERIQVL EDQRTRQTKI 

      1690       1700       1710       1720       1730       1740 
LEEDLEQIKL SLRERGRELT TQRQLMQERA EEGKGPSKAQ RGSLEHMKLI LRDKEKEVEC 

      1750       1760       1770       1780       1790       1800 
QQEHIHELQE LKDQLEQQLQ GLHRKVGETS LLLSQREQEI VVLQQQLQEA REQGELKEQS 

      1810       1820       1830       1840       1850       1860 
LQSQLDEAQR ALAQRDQELE ALQQEQQQAQ GQEERVKEKA DALQGALEQA HMTLKERHGE 

      1870       1880       1890       1900       1910       1920 
LQDHKEQARR LEEELAVEGR RVQALEEVLG DLRAESREQE KALLALQQQC AEQAQEHEVE 

      1930       1940       1950       1960       1970       1980 
TRALQDSWLQ AQAVLKERDQ ELEALRAESQ SSRHQEEAAR ARAEALQEAL GKAHAALQGK 

      1990       2000       2010       2020       2030       2040 
EQHLLEQAEL SRSLEASTAT LQASLDACQA HSRQLEEALR IQEGEIQDQD LRYQEDVQQL 

      2050       2060       2070       2080       2090       2100 
QQALAQRDEE LRHQQEREQL LEKSLAQRVQ ENMIQEKQNL GQEREEEEIR GLHQSVRELQ 

      2110       2120       2130       2140       2150       2160 
LTLAQKEQEI LELRETQQRN NLEALPHSHK TSPMEEQSLK LDSLEPRLQR ELERLQAALR 

      2170       2180       2190       2200       2210       2220 
QTEAREIEWR EKAQDLALSL AQTKASVSSL QEVAMFLQAS VLERDSEQQR LQDELELTRR 

      2230       2240       2250       2260       2270       2280 
ALEKERLHSP GATSTAELGS RGEQGVQLGE VSGVEAEPSP DGMEKQSWRQ RLEHLQQAVA 

      2290       2300       2310       2320       2330       2340 
RLEIDRSRLQ RHNVQLRSTL EQVERERRKL KREAMRAAQA GSLEISKATA SSPTQQDGRG 

      2350       2360       2370       2380       2390       2400 
QKNSDAKCVA ELQKEVVLLQ AQLTLERKQK QDYITRSAQT SRELAGLHHS LSHSLLAVAQ 

      2410       2420       2430       2440 
APEATVLEAE TRRLDESLTQ SLTSPGPVLL HPSPSTTQAA SR 

Q9BV73 in FASTA format

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