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Protein

Centrosome-associated protein CEP250

Gene

CEP250

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably plays an important role in centrosome cohesion during interphase.

Miscellaneous

Antibodies against CEP2 are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB
  • protein domain specific binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processCell cycle

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiQ9BV73

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosome-associated protein CEP250
Alternative name(s):
250 kDa centrosomal protein
Short name:
Cep250
Centrosomal Nek2-associated protein 1
Short name:
C-Nap1
Centrosomal protein 2
Gene namesi
Name:CEP250
Synonyms:CEP2, CNAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000126001.15
HGNCiHGNC:1859 CEP250
MIMi609689 gene
neXtProtiNX_Q9BV73

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi11190
OpenTargetsiENSG00000126001
PharmGKBiPA26415

Polymorphism and mutation databases

BioMutaiCEP250
DMDMi30580364

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894871 – 2442Centrosome-associated protein CEP250Add BLAST2442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2138PhosphoserineCombined sources1
Modified residuei2218PhosphothreonineCombined sources1
Modified residuei2229PhosphoserineCombined sources1
Modified residuei2252PhosphoserineCombined sources1
Modified residuei2322PhosphoserineCombined sources1
Modified residuei2417Phosphoserine; by NEK21 Publication1
Modified residuei2421Phosphoserine; by NEK21 Publication1

Post-translational modificationi

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.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BV73
MaxQBiQ9BV73
PaxDbiQ9BV73
PeptideAtlasiQ9BV73
PRIDEiQ9BV73
ProteomicsDBi79175
79176 [Q9BV73-2]

PTM databases

iPTMnetiQ9BV73
PhosphoSitePlusiQ9BV73

Expressioni

Tissue specificityi

Ubiquitously and weakly expressed.

Gene expression databases

BgeeiENSG00000126001 Expressed in 150 organ(s), highest expression level in testis
CleanExiHS_CEP250
ExpressionAtlasiQ9BV73 baseline and differential
GenevisibleiQ9BV73 HS

Organism-specific databases

HPAiHPA064875

Interactioni

Subunit structurei

Monomer and homodimer (Probable). Forms a complex in vitro with both NEK2 kinase and the PPP1CC catalytic subunit of protein phosphatase 1 (PP1) (PubMed:9647649, PubMed:10880350). Interacts with CEP135 (PubMed:18851962). Interacts with CROCC/rootletin (By similarity). Interacts with CNTLN (PubMed:24554434). Interacts with NIN (via C-terminus) (By similarity).By similarityCurated4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116360, 244 interactors
DIPiDIP-39406N
IntActiQ9BV73, 15 interactors
MINTiQ9BV73
STRINGi9606.ENSP00000380661

Structurei

3D structure databases

ProteinModelPortaliQ9BV73
SMRiQ9BV73
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili95 – 158Sequence analysisAdd BLAST64
Coiled coili244 – 352Sequence analysisAdd BLAST109
Coiled coili395 – 1172Sequence analysisAdd BLAST778
Coiled coili1243 – 2227Sequence analysisAdd BLAST985
Coiled coili2262 – 2376Sequence analysisAdd BLAST115

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi246 – 250Poly-Leu5
Compositional biasi464 – 2171Gln/Glu-richAdd BLAST1708

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFAN Eukaryota
ENOG410XPG3 LUCA
GeneTreeiENSGT00730000110800
HOGENOMiHOG000246955
HOVERGENiHBG081320
InParanoidiQ9BV73
KOiK16464
OMAiRIETSII
OrthoDBiEOG091G034H
PhylomeDBiQ9BV73
TreeFamiTF101138

Family and domain databases

InterProiView protein in InterPro
IPR026048 CEP250
PANTHERiPTHR23159:SF1 PTHR23159:SF1, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BV73-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
METRSPGLNN MKPQSLQLVL EEQVLALQQQ MAENQAASWR KLKNSQEAQQ
60 70 80 90 100
RQATLVRKLQ AKVLQYRSWC QELEKRLEAT GGPIPQRWEN VEEPNLDELL
110 120 130 140 150
VRLEEEQQRC ESLAEVNTQL RLHMEKADVV NKALREDVEK LTVDWSRARD
160 170 180 190 200
ELMRKESQWQ MEQEFFKGYL KGEHGRLLSL WREVVTFRRH FLEMKSATDR
210 220 230 240 250
DLMELKAEHV RLSGSLLTCC LRLTVGAQSR EPNGSGRMDG REPAQLLLLL
260 270 280 290 300
AKTQELEKEA HERSQELIQL KSQGDLEKAE LQDRVTELSA LLTQSQKQNE
310 320 330 340 350
DYEKMIKALR ETVEILETNH TELMEHEASL SRNAQEEKLS LQQVIKDITQ
360 370 380 390 400
VMVEEGDNIA QGSGHENSLE LDSSIFSQFD YQDADKALTL VRSVLTRRRQ
410 420 430 440 450
AVQDLRQQLA GCQEAVNLLQ QQHDQWEEEG KALRQRLQKL TGERDTLAGQ
460 470 480 490 500
TVDLQGEVDS LSKERELLQK AREELRQQLE VLEQEAWRLR RVNVELQLQG
510 520 530 540 550
DSAQGQKEEQ QEELHLAVRE RERLQEMLMG LEAKQSESLS ELITLREALE
560 570 580 590 600
SSHLEGELLR QEQTEVTAAL ARAEQSIAEL SSSENTLKTE VADLRAAAVK
610 620 630 640 650
LSALNEALAL DKVGLNQQLL QLEEENQSVC SRMEAAEQAR NALQVDLAEA
660 670 680 690 700
EKRREALWEK NTHLEAQLQK AEEAGAELQA DLRDIQEEKE EIQKKLSESR
710 720 730 740 750
HQQEAATTQL EQLHQEAKRQ EEVLARAVQE KEALVREKAA LEVRLQAVER
760 770 780 790 800
DRQDLAEQLQ GLSSAKELLE SSLFEAQQQN SVIEVTKGQL EVQIQTVTQA
810 820 830 840 850
KEVIQGEVRC LKLELDTERS QAEQERDAAA RQLAQAEQEG KTALEQQKAA
860 870 880 890 900
HEKEVNQLRE KWEKERSWHQ QELAKALESL EREKMELEMR LKEQQTEMEA
910 920 930 940 950
IQAQREEERT QAESALCQMQ LETEKERVSL LETLLQTQKE LADASQQLER
960 970 980 990 1000
LRQDMKVQKL KEQETTGILQ TQLQEAQREL KEAARQHRDD LAALQEESSS
1010 1020 1030 1040 1050
LLQDKMDLQK QVEDLKSQLV AQDDSQRLVE QEVQEKLRET QEYNRIQKEL
1060 1070 1080 1090 1100
EREKASLTLS LMEKEQRLLV LQEADSIRQQ ELSALRQDMQ EAQGEQKELS
1110 1120 1130 1140 1150
AQMELLRQEV KEKEADFLAQ EAQLLEELEA SHITEQQLRA SLWAQEAKAA
1160 1170 1180 1190 1200
QLQLRLRSTE SQLEALAAEQ QPGNQAQAQA QLASLYSALQ QALGSVCESR
1210 1220 1230 1240 1250
PELSGGGDSA PSVWGLEPDQ NGARSLFKRG PLLTALSAEA VASALHKLHQ
1260 1270 1280 1290 1300
DLWKTQQTRD VLRDQVQKLE ERLTDTEAEK SQVHTELQDL QRQLSQNQEE
1310 1320 1330 1340 1350
KSKWEGKQNS LESELMELHE TMASLQSRLR RAELQRMEAQ GERELLQAAK
1360 1370 1380 1390 1400
ENLTAQVEHL QAAVVEARAQ ASAAGILEED LRTARSALKL KNEEVESERE
1410 1420 1430 1440 1450
RAQALQEQGE LKVAQGKALQ ENLALLTQTL AEREEEVETL RGQIQELEKQ
1460 1470 1480 1490 1500
REMQKAALEL LSLDLKKRNQ EVDLQQEQIQ ELEKCRSVLE HLPMAVQERE
1510 1520 1530 1540 1550
QKLTVQREQI RELEKDRETQ RNVLEHQLLE LEKKDQMIES QRGQVQDLKK
1560 1570 1580 1590 1600
QLVTLECLAL ELEENHHKME CQQKLIKELE GQRETQRVAL THLTLDLEER
1610 1620 1630 1640 1650
SQELQAQSSQ IHDLESHSTV LARELQERDQ EVKSQREQIE ELQRQKEHLT
1660 1670 1680 1690 1700
QDLERRDQEL MLQKERIQVL EDQRTRQTKI LEEDLEQIKL SLRERGRELT
1710 1720 1730 1740 1750
TQRQLMQERA EEGKGPSKAQ RGSLEHMKLI LRDKEKEVEC QQEHIHELQE
1760 1770 1780 1790 1800
LKDQLEQQLQ GLHRKVGETS LLLSQREQEI VVLQQQLQEA REQGELKEQS
1810 1820 1830 1840 1850
LQSQLDEAQR ALAQRDQELE ALQQEQQQAQ GQEERVKEKA DALQGALEQA
1860 1870 1880 1890 1900
HMTLKERHGE LQDHKEQARR LEEELAVEGR RVQALEEVLG DLRAESREQE
1910 1920 1930 1940 1950
KALLALQQQC AEQAQEHEVE TRALQDSWLQ AQAVLKERDQ ELEALRAESQ
1960 1970 1980 1990 2000
SSRHQEEAAR ARAEALQEAL GKAHAALQGK EQHLLEQAEL SRSLEASTAT
2010 2020 2030 2040 2050
LQASLDACQA HSRQLEEALR IQEGEIQDQD LRYQEDVQQL QQALAQRDEE
2060 2070 2080 2090 2100
LRHQQEREQL LEKSLAQRVQ ENMIQEKQNL GQEREEEEIR GLHQSVRELQ
2110 2120 2130 2140 2150
LTLAQKEQEI LELRETQQRN NLEALPHSHK TSPMEEQSLK LDSLEPRLQR
2160 2170 2180 2190 2200
ELERLQAALR QTEAREIEWR EKAQDLALSL AQTKASVSSL QEVAMFLQAS
2210 2220 2230 2240 2250
VLERDSEQQR LQDELELTRR ALEKERLHSP GATSTAELGS RGEQGVQLGE
2260 2270 2280 2290 2300
VSGVEAEPSP DGMEKQSWRQ RLEHLQQAVA RLEIDRSRLQ RHNVQLRSTL
2310 2320 2330 2340 2350
EQVERERRKL KREAMRAAQA GSLEISKATA SSPTQQDGRG QKNSDAKCVA
2360 2370 2380 2390 2400
ELQKEVVLLQ AQLTLERKQK QDYITRSAQT SRELAGLHHS LSHSLLAVAQ
2410 2420 2430 2440
APEATVLEAE TRRLDESLTQ SLTSPGPVLL HPSPSTTQAA SR
Length:2,442
Mass (Da):281,137
Last modified:May 9, 2003 - v2
Checksum:iBC2B8A36E07B8272
GO
Isoform 2 (identifier: Q9BV73-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     863-918: Missing.

Show »
Length:2,386
Mass (Da):274,380
Checksum:iCE22E600206C2CE8
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C0P0H7C0P0_HUMAN
Centrosome-associated protein CEP25...
CEP250
877Annotation score:
A6PVI9A6PVI9_HUMAN
Centrosomal protein 250kDa
CEP250 RP3-477O4.2-006
339Annotation score:
Q5JWS5Q5JWS5_HUMAN
Centrosomal protein 250kDa
CEP250 RP3-477O4.2-002
164Annotation score:
E7ETF9E7ETF9_HUMAN
Centrosome-associated protein CEP25...
CEP250
684Annotation score:
H0Y5R2H0Y5R2_HUMAN
Centrosome-associated protein CEP25...
CEP250
210Annotation score:
E9PHT2E9PHT2_HUMAN
Centrosome-associated protein CEP25...
CEP250
538Annotation score:
H7C0D6H7C0D6_HUMAN
Centrosome-associated protein CEP25...
CEP250
138Annotation score:
Q5JWS6Q5JWS6_HUMAN
Centrosomal protein 250kDa
CEP250 RP3-477O4.2-003
114Annotation score:
A0A087WZ34A0A087WZ34_HUMAN
Centrosome-associated protein CEP25...
CEP250
34Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120L → I in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti136E → A in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti365H → L in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti372D → E in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti509E → D in AAC07988 (PubMed:9647649).Curated1
Sequence conflicti552S → I in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti757E → A in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti784 – 787EVTK → DEPQ in AAC06349 (PubMed:9506584).Curated4
Sequence conflicti1153Q → H in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti1246H → L in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti1513L → P in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti2082Q → L in AAC06349 (PubMed:9506584).Curated1
Sequence conflicti2345D → N in AAC06349 (PubMed:9506584).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015649995Q → H. Corresponds to variant dbSNP:rs2296403Ensembl.1
Natural variantiVAR_0508981072Q → E. Corresponds to variant dbSNP:rs17092706Ensembl.1
Natural variantiVAR_0218581441R → Q. Corresponds to variant dbSNP:rs3748433Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007372863 – 918Missing in isoform 2. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF022655 mRNA Translation: AAC06349.1
AF049105 mRNA Translation: AAC07988.1
AL121586 Genomic DNA Translation: CAB89415.1
CH471077 Genomic DNA Translation: EAW76206.1
CH471077 Genomic DNA Translation: EAW76207.1
CCDSiCCDS13255.1 [Q9BV73-1]
PIRiT08621
RefSeqiNP_001305148.1, NM_001318219.1
NP_009117.2, NM_007186.5 [Q9BV73-1]
XP_005260319.1, XM_005260262.4 [Q9BV73-1]
XP_006723753.1, XM_006723690.3 [Q9BV73-1]
XP_006723754.1, XM_006723691.1 [Q9BV73-1]
XP_006723755.1, XM_006723692.3 [Q9BV73-1]
XP_006723756.1, XM_006723693.3 [Q9BV73-1]
UniGeneiHs.443976

Genome annotation databases

EnsembliENST00000397527; ENSP00000380661; ENSG00000126001 [Q9BV73-1]
GeneIDi11190
KEGGihsa:11190
UCSCiuc032pib.2 human [Q9BV73-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF022655 mRNA Translation: AAC06349.1
AF049105 mRNA Translation: AAC07988.1
AL121586 Genomic DNA Translation: CAB89415.1
CH471077 Genomic DNA Translation: EAW76206.1
CH471077 Genomic DNA Translation: EAW76207.1
CCDSiCCDS13255.1 [Q9BV73-1]
PIRiT08621
RefSeqiNP_001305148.1, NM_001318219.1
NP_009117.2, NM_007186.5 [Q9BV73-1]
XP_005260319.1, XM_005260262.4 [Q9BV73-1]
XP_006723753.1, XM_006723690.3 [Q9BV73-1]
XP_006723754.1, XM_006723691.1 [Q9BV73-1]
XP_006723755.1, XM_006723692.3 [Q9BV73-1]
XP_006723756.1, XM_006723693.3 [Q9BV73-1]
UniGeneiHs.443976

3D structure databases

ProteinModelPortaliQ9BV73
SMRiQ9BV73
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116360, 244 interactors
DIPiDIP-39406N
IntActiQ9BV73, 15 interactors
MINTiQ9BV73
STRINGi9606.ENSP00000380661

PTM databases

iPTMnetiQ9BV73
PhosphoSitePlusiQ9BV73

Polymorphism and mutation databases

BioMutaiCEP250
DMDMi30580364

Proteomic databases

EPDiQ9BV73
MaxQBiQ9BV73
PaxDbiQ9BV73
PeptideAtlasiQ9BV73
PRIDEiQ9BV73
ProteomicsDBi79175
79176 [Q9BV73-2]

Protocols and materials databases

DNASUi11190
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000397527; ENSP00000380661; ENSG00000126001 [Q9BV73-1]
GeneIDi11190
KEGGihsa:11190
UCSCiuc032pib.2 human [Q9BV73-1]

Organism-specific databases

CTDi11190
DisGeNETi11190
EuPathDBiHostDB:ENSG00000126001.15
GeneCardsiCEP250
H-InvDBiHIX0015764
HGNCiHGNC:1859 CEP250
HPAiHPA064875
MIMi609689 gene
neXtProtiNX_Q9BV73
OpenTargetsiENSG00000126001
PharmGKBiPA26415
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFAN Eukaryota
ENOG410XPG3 LUCA
GeneTreeiENSGT00730000110800
HOGENOMiHOG000246955
HOVERGENiHBG081320
InParanoidiQ9BV73
KOiK16464
OMAiRIETSII
OrthoDBiEOG091G034H
PhylomeDBiQ9BV73
TreeFamiTF101138

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2
SIGNORiQ9BV73

Miscellaneous databases

ChiTaRSiCEP250 human
GeneWikiiCEP250
GenomeRNAii11190
PROiPR:Q9BV73
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126001 Expressed in 150 organ(s), highest expression level in testis
CleanExiHS_CEP250
ExpressionAtlasiQ9BV73 baseline and differential
GenevisibleiQ9BV73 HS

Family and domain databases

InterProiView protein in InterPro
IPR026048 CEP250
PANTHERiPTHR23159:SF1 PTHR23159:SF1, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCP250_HUMAN
AccessioniPrimary (citable) accession number: Q9BV73
Secondary accession number(s): E1P5Q3
, O14812, O60588, Q9H450
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: May 9, 2003
Last modified: November 7, 2018
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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