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O94986 (CE152_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Centrosomal protein of 152 kDa

Short name=Cep152
Gene names
Name:CEP152
Synonyms:KIAA0912
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1710 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Necessary for centrosome duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles. Overexpression of CEP152 can drive amplification of centrioles. Ref.5 Ref.6 Ref.7

Subunit structure

Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes. Ref.5 Ref.6 Ref.7 Ref.8

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Localizes to the deuterosome. Ref.5 Ref.7 Ref.8 Ref.9

Involvement in disease

Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the CEP152 family.

Sequence caution

The sequence AAH69186.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA74935.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 4 (identifier: O94986-4)

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.
Note: Gene prediction based on EST data.
Isoform 1 (identifier: O94986-1)

The sequence of this isoform differs from the canonical sequence as follows:
     89-181: Missing.
     1365-1368: ALPL → GMSK
     1369-1710: Missing.
Isoform 2 (identifier: O94986-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1365-1368: ALPL → GMSK
     1369-1710: Missing.
Isoform 3 (identifier: O94986-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1156-1211: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17101710Centrosomal protein of 152 kDa
PRO_0000089462

Regions

Coiled coil234 – 490257 Potential
Coiled coil615 – 66450 Potential
Coiled coil700 – 77273 Potential
Coiled coil902 – 99392 Potential
Coiled coil1170 – 124172 Potential

Natural variations

Alternative sequence89 – 18193Missing in isoform 1.
VSP_035981
Alternative sequence1156 – 121156Missing in isoform 3.
VSP_047002
Alternative sequence1365 – 13684ALPL → GMSK in isoform 1 and isoform 2.
VSP_035983
Alternative sequence1369 – 1710342Missing in isoform 1 and isoform 2.
VSP_035984
Natural variant541S → L.
Corresponds to variant rs2289181 [ dbSNP | Ensembl ].
VAR_047932
Natural variant2651Q → P in MCPH9. Ref.9
VAR_063813
Natural variant6671K → R in SCKL5. Ref.7
Corresponds to variant rs200879436 [ dbSNP | Ensembl ].
VAR_065258
Natural variant7931S → I. Ref.10
Corresponds to variant rs2289178 [ dbSNP | Ensembl ].
VAR_050779
Natural variant9141L → V.
Corresponds to variant rs16961560 [ dbSNP | Ensembl ].
VAR_050780
Natural variant11061V → A.
Corresponds to variant rs16961557 [ dbSNP | Ensembl ].
VAR_050781

Experimental info

Sequence conflict5581S → P in AAH69186. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 [UniParc].

Last modified June 26, 2013. Version 4.
Checksum: 1727BDA921E1F6BD

FASTA1,710195,626
        10         20         30         40         50         60 
MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE LQYSDCSEDG 

        70         80         90        100        110        120 
TDGQPHHPEQ LEMSWNEQML PKSQSVNGYN EIQSLYAGEK CGNVWEENRS KTEDRHPVYH 

       130        140        150        160        170        180 
PEEGGDEGGS GYSPPSKCEQ TDLYHLPENF RPYTNGQKQE FNNQATNVIK FSDPQWNHFQ 

       190        200        210        220        230        240 
GPSCQGLEPY NKVTYKPYQS SAQNNGSPAQ EITGSDTFEG LQQQFLGANE NSAENMQIIQ 

       250        260        270        280        290        300 
LQVLNKAKER QLENLIEKLN ESERQIRYLN HQLVIIKDEK DGLTLSLRES QKLFQNGKER 

       310        320        330        340        350        360 
EIQLEAQIKA LETQIQALKV NEEQMIKKSR TTEMALESLK QQLVDLHHSE SLQRAREQHE 

       370        380        390        400        410        420 
SIVMGLTKKY EEQVLSLQKN LDATVTALKE QEDICSRLKD HVKQLERNQE AIKLEKTEII 

       430        440        450        460        470        480 
NKLTRSLEES QKQCAHLLQS GSVQEVAQLQ FQLQQAQKAH AMSANMNKAL QEELTELKDE 

       490        500        510        520        530        540 
ISLYESAAKL GIHPSDSEGE LNIELTESYV DLGIKKVNWK KSKVTSIVQE EDPNEELSKD 

       550        560        570        580        590        600 
EFILKLKAEV QRLLGSNSMK RHLVSQLQND LKDCHKKIED LHQVKKDEKS IEVETKTDTS 

       610        620        630        640        650        660 
EKPKNQLWPE SSTSDVVRDD ILLLKNEIQV LQQQNQELKE TEGKLRNTNQ DLCNQMRQMV 

       670        680        690        700        710        720 
QDFDHDKQEA VDRCERTYQQ HHEAMKTQIR ESLLAKHALE KQQLFEAYER THLQLRSELD 

       730        740        750        760        770        780 
KLNKEVTAVQ ECYLEVCREK DNLELTLRKT TEKEQQTQEK IKEKLIQQLE KEWQSKLDQT 

       790        800        810        820        830        840 
IKAMKKKTLD CGSQTDQVTT SDVISKKEMA IMIEEQKCTI QQNLEQEKDI AIKGAMKKLE 

       850        860        870        880        890        900 
IELELKHCEN ITKQVEIAVQ NAHQRWLGEL PELAEYQALV KAEQKKWEEQ HEVSVNKRIS 

       910        920        930        940        950        960 
FAVSEAKEKW KSELENMRKN ILPGKELEEK IHSLQKELEL KNEEVPVVIR AELAKARSEW 

       970        980        990       1000       1010       1020 
NKEKQEEIHR IQEQNEQDYR QFLDDHRNKI NEVLAAAKED FMKQKTELLL QKETELQTCL 

      1030       1040       1050       1060       1070       1080 
DQSRREWTMQ EAKRIQLEIY QYEEDILTVL GVLLSDTQKE HISDSEDKQL LEIMSTCSSK 

      1090       1100       1110       1120       1130       1140 
WMSVQYFEKL KGCIQKAFQD TLPLLVENAD PEWKKRNMAE LSKDSASQGT GQGDPGPAAG 

      1150       1160       1170       1180       1190       1200 
HHAQPLALQA TEAEADKKKV LEIKDLCCGH CFQELEKAKQ ECQDLKGKLE KCCRHLQHLE 

      1210       1220       1230       1240       1250       1260 
RKHKAVVEKI GEENNKVVEE LIEENNDMKN KLEELQTLCK TPPRSLSAGA IENACLPCSG 

      1270       1280       1290       1300       1310       1320 
GALEELRGQY IKAVKKIKCD MLRYIQESKE RAAEMVKAEV LRERQETARK MRKYYLICLQ 

      1330       1340       1350       1360       1370       1380 
QILQDDGKEG AEKKIMNAAS KLATMAKLLE TPISSKSQSK TTQSALPLTS EMLIAVKKSK 

      1390       1400       1410       1420       1430       1440 
RNDVNQKIPC CIESKSNSVN TITRTLCEQA PKRRAACNLQ RLLENSEHQS IKHVGSKETH 

      1450       1460       1470       1480       1490       1500 
LEFQFGDGSC KHLNSLPRNV SPEFVPCEGE GGFGLHKKKD LLSDNGSESL PHSAAYPFLG 

      1510       1520       1530       1540       1550       1560 
TLGNKPSPRC TPGPSESGCM HITFRDSNER LGLKVYKCNP LMESENAASE KSQGLDVQEP 

      1570       1580       1590       1600       1610       1620 
PVKDGGDLSD CLGWPSSSAT LSFDSREASF VHGRPQGTLE IPSESVKSKQ FSPSGYLSDT 

      1630       1640       1650       1660       1670       1680 
EESNMICQTM KCQRYQTPYL SEETTYLEPG KISVNCGHPS RHKADRLKSD FKKLSSTLPS 

      1690       1700       1710 
SVCQQPSRKL IVPLSSQQDS GFDSPFVNLD 

« Hide

Isoform 1 [UniParc].

Checksum: D1E91CED05D5E054
Show »

FASTA1,275147,345
Isoform 2 [UniParc].

Checksum: 03F71584CB87AB49
Show »

FASTA1,368158,079
Isoform 3 [UniParc].

Checksum: C517B4CFBDAB87E9
Show »

FASTA1,654189,071

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Heart, Lung and Testis.
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[5]"Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome."
Cizmecioglu O., Arnold M., Bahtz R., Settele F., Ehret L., Haselmann-Weiss U., Antony C., Hoffmann I.
J. Cell Biol. 191:731-739(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PLK4.
[6]"Asterless is a scaffold for the onset of centriole assembly."
Dzhindzhev N.S., Yu Q.D., Weiskopf K., Tzolovsky G., Cunha-Ferreira I., Riparbelli M., Rodrigues-Martins A., Bettencourt-Dias M., Callaini G., Glover D.M.
Nature 467:714-718(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH PLK4 AND CENPJ.
[7]"CEP152 is a genome maintenance protein disrupted in Seckel syndrome."
Kalay E., Yigit G., Aslan Y., Brown K.E., Pohl E., Bicknell L.S., Kayserili H., Li Y., Tuysuz B., Nurnberg G., Kiess W., Koegl M., Baessmann I., Buruk K., Toraman B., Kayipmaz S., Kul S., Ikbal M. expand/collapse author list , Turner D.J., Taylor M.S., Aerts J., Scott C., Milstein K., Dollfus H., Wieczorek D., Brunner H.G., Hurles M., Jackson A.P., Rauch A., Nurnberg P., Karaguzel A., Wollnik B.
Nat. Genet. 43:23-26(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CINP, VARIANT SCKL5 ARG-667.
[8]"A primary microcephaly protein complex forms a ring around parental centrioles."
Sir J.H., Barr A.R., Nicholas A.K., Carvalho O.P., Khurshid M., Sossick A., Reichelt S., D'Santos C., Woods C.G., Gergely F.
Nat. Genet. 43:1147-1153(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CEP63, SUBCELLULAR LOCATION.
[9]"Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4."
Guernsey D.L., Jiang H., Hussin J., Arnold M., Bouyakdan K., Perry S., Babineau-Sturk T., Beis J., Dumas N., Evans S.C., Ferguson M., Matsuoka M., Macgillivray C., Nightingale M., Patry L., Rideout A.L., Thomas A., Orr A. expand/collapse author list , Hoffmann I., Michaud J.L., Awadalla P., Meek D.C., Ludman M., Samuels M.E.
Am. J. Hum. Genet. 87:40-51(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCPH9 PRO-265, SUBCELLULAR LOCATION.
[10]"A Japanese-specific allele in the GALNT11 gene."
Yuasa I., Umetsu K., Matsusue A., Nishimukai H., Harihara S., Fukumori Y., Saitou N., Jin F., Chattopadhyay P.K., Henke L., Henke J.
Leg. Med. 12:208-211(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-793.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB020719 mRNA. Translation: BAA74935.1. Different initiation.
AC012379 Genomic DNA. No translation available.
AC022084 Genomic DNA. No translation available.
AC084757 Genomic DNA. No translation available.
BC069186 mRNA. Translation: AAH69186.1. Sequence problems.
BC117182 mRNA. Translation: AAI17183.1.
RefSeqNP_001181927.1. NM_001194998.1.
NP_055800.2. NM_014985.3.
UniGeneHs.443005.
Hs.597323.

3D structure databases

ProteinModelPortalO94986.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116642. 8 interactions.
DIPDIP-31701N.
IntActO94986. 7 interactions.
MINTMINT-7034544.
STRING9606.ENSP00000382271.

PTM databases

PhosphoSiteO94986.

Proteomic databases

PaxDbO94986.
PRIDEO94986.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325747; ENSP00000321000; ENSG00000103995. [O94986-1]
ENST00000380950; ENSP00000370337; ENSG00000103995. [O94986-4]
ENST00000399334; ENSP00000382271; ENSG00000103995. [O94986-3]
GeneID22995.
KEGGhsa:22995.
UCSCuc001zwy.3. human. [O94986-4]
uc001zxa.2. human. [O94986-1]

Organism-specific databases

CTD22995.
GeneCardsGC15M049005.
HGNCHGNC:29298. CEP152.
HPAHPA039408.
MIM613529. gene.
613823. phenotype.
614852. phenotype.
neXtProtNX_O94986.
Orphanet2512. Autosomal recessive primary microcephaly.
808. Seckel syndrome.
PharmGKBPA142672126.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG140168.
HOGENOMHOG000111522.
HOVERGENHBG096403.
KOK16728.
OMADDHRNKI.
OrthoDBEOG7B8S36.
TreeFamTF332017.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressO94986.
BgeeO94986.
CleanExHS_CEP152.
GenevestigatorO94986.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCEP152. human.
GeneWikiCEP152.
GenomeRNAi22995.
NextBio43860.
PROO94986.
SOURCESearch...

Entry information

Entry nameCE152_HUMAN
AccessionPrimary (citable) accession number: O94986
Secondary accession number(s): E7ER66, Q17RV1, Q6NTA0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: June 26, 2013
Last modified: April 16, 2014
This is version 103 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM