SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O94986

- CE152_HUMAN

UniProt

O94986 - CE152_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Centrosomal protein of 152 kDa
Gene
CEP152, KIAA0912
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. protein kinase binding Source: UniProtKB

GO - Biological processi

  1. G2/M transition of mitotic cell cycle Source: Reactome
  2. cell projection organization Source: UniProtKB-KW
  3. centriole replication Source: UniProtKB
  4. centrosome duplication Source: UniProtKB
  5. de novo centriole assembly Source: UniProtKB
  6. mitotic cell cycle Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 152 kDa
Short name:
Cep152
Gene namesi
Name:CEP152
Synonyms:KIAA0912
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:29298. CEP152.

Subcellular locationi

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.4 Publications

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cytosol Source: Reactome
  3. deuterosome Source: UniProtKB
  4. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti265 – 2651Q → P in MCPH9. 1 Publication
VAR_063813
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti667 – 6671K → R in SCKL5. 1 Publication
Corresponds to variant rs200879436 [ dbSNP | Ensembl ].
VAR_065258

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation, Primary microcephaly

Organism-specific databases

MIMi613823. phenotype.
614852. phenotype.
Orphaneti2512. Autosomal recessive primary microcephaly.
808. Seckel syndrome.
PharmGKBiPA142672126.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17101710Centrosomal protein of 152 kDa
PRO_0000089462Add
BLAST

Proteomic databases

MaxQBiO94986.
PaxDbiO94986.
PRIDEiO94986.

PTM databases

PhosphoSiteiO94986.

Expressioni

Gene expression databases

ArrayExpressiO94986.
BgeeiO94986.
CleanExiHS_CEP152.
GenevestigatoriO94986.

Organism-specific databases

HPAiHPA039408.

Interactioni

Subunit structurei

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.4 Publications

Protein-protein interaction databases

BioGridi116642. 8 interactions.
DIPiDIP-31701N.
IntActiO94986. 7 interactions.
MINTiMINT-7034544.
STRINGi9606.ENSP00000382271.

Structurei

3D structure databases

ProteinModelPortaliO94986.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili234 – 490257 Reviewed prediction
Add
BLAST
Coiled coili615 – 66450 Reviewed prediction
Add
BLAST
Coiled coili700 – 77273 Reviewed prediction
Add
BLAST
Coiled coili902 – 99392 Reviewed prediction
Add
BLAST
Coiled coili1170 – 124172 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the CEP152 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG140168.
HOGENOMiHOG000111522.
HOVERGENiHBG096403.
KOiK16728.
OMAiDDHRNKI.
OrthoDBiEOG7B8S36.
TreeFamiTF332017.

Family and domain databases

InterProiIPR029598. Cep152.
[Graphical view]
PANTHERiPTHR10337:SF6. PTHR10337:SF6. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 4 (identifier: O94986-4) [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

MSLDFGSVAL PVQNEDEEYD EEDYEREKEL QQLLTDLPHD MLDDDLSSPE     50
LQYSDCSEDG TDGQPHHPEQ LEMSWNEQML PKSQSVNGYN EIQSLYAGEK 100
CGNVWEENRS KTEDRHPVYH PEEGGDEGGS GYSPPSKCEQ TDLYHLPENF 150
RPYTNGQKQE FNNQATNVIK FSDPQWNHFQ GPSCQGLEPY NKVTYKPYQS 200
SAQNNGSPAQ EITGSDTFEG LQQQFLGANE NSAENMQIIQ LQVLNKAKER 250
QLENLIEKLN ESERQIRYLN HQLVIIKDEK DGLTLSLRES QKLFQNGKER 300
EIQLEAQIKA LETQIQALKV NEEQMIKKSR TTEMALESLK QQLVDLHHSE 350
SLQRAREQHE SIVMGLTKKY EEQVLSLQKN LDATVTALKE QEDICSRLKD 400
HVKQLERNQE AIKLEKTEII NKLTRSLEES QKQCAHLLQS GSVQEVAQLQ 450
FQLQQAQKAH AMSANMNKAL QEELTELKDE ISLYESAAKL GIHPSDSEGE 500
LNIELTESYV DLGIKKVNWK KSKVTSIVQE EDPNEELSKD EFILKLKAEV 550
QRLLGSNSMK RHLVSQLQND LKDCHKKIED LHQVKKDEKS IEVETKTDTS 600
EKPKNQLWPE SSTSDVVRDD ILLLKNEIQV LQQQNQELKE TEGKLRNTNQ 650
DLCNQMRQMV QDFDHDKQEA VDRCERTYQQ HHEAMKTQIR ESLLAKHALE 700
KQQLFEAYER THLQLRSELD KLNKEVTAVQ ECYLEVCREK DNLELTLRKT 750
TEKEQQTQEK IKEKLIQQLE KEWQSKLDQT IKAMKKKTLD CGSQTDQVTT 800
SDVISKKEMA IMIEEQKCTI QQNLEQEKDI AIKGAMKKLE IELELKHCEN 850
ITKQVEIAVQ NAHQRWLGEL PELAEYQALV KAEQKKWEEQ HEVSVNKRIS 900
FAVSEAKEKW KSELENMRKN ILPGKELEEK IHSLQKELEL KNEEVPVVIR 950
AELAKARSEW NKEKQEEIHR IQEQNEQDYR QFLDDHRNKI NEVLAAAKED 1000
FMKQKTELLL QKETELQTCL DQSRREWTMQ EAKRIQLEIY QYEEDILTVL 1050
GVLLSDTQKE HISDSEDKQL LEIMSTCSSK WMSVQYFEKL KGCIQKAFQD 1100
TLPLLVENAD PEWKKRNMAE LSKDSASQGT GQGDPGPAAG HHAQPLALQA 1150
TEAEADKKKV LEIKDLCCGH CFQELEKAKQ ECQDLKGKLE KCCRHLQHLE 1200
RKHKAVVEKI GEENNKVVEE LIEENNDMKN KLEELQTLCK TPPRSLSAGA 1250
IENACLPCSG GALEELRGQY IKAVKKIKCD MLRYIQESKE RAAEMVKAEV 1300
LRERQETARK MRKYYLICLQ QILQDDGKEG AEKKIMNAAS KLATMAKLLE 1350
TPISSKSQSK TTQSALPLTS EMLIAVKKSK RNDVNQKIPC CIESKSNSVN 1400
TITRTLCEQA PKRRAACNLQ RLLENSEHQS IKHVGSKETH LEFQFGDGSC 1450
KHLNSLPRNV SPEFVPCEGE GGFGLHKKKD LLSDNGSESL PHSAAYPFLG 1500
TLGNKPSPRC TPGPSESGCM HITFRDSNER LGLKVYKCNP LMESENAASE 1550
KSQGLDVQEP PVKDGGDLSD CLGWPSSSAT LSFDSREASF VHGRPQGTLE 1600
IPSESVKSKQ FSPSGYLSDT EESNMICQTM KCQRYQTPYL SEETTYLEPG 1650
KISVNCGHPS RHKADRLKSD FKKLSSTLPS SVCQQPSRKL IVPLSSQQDS 1700
GFDSPFVNLD 1710

Note: Gene prediction based on EST data.

Length:1,710
Mass (Da):195,626
Last modified:June 26, 2013 - v4
Checksum:i1727BDA921E1F6BD
GO
Isoform 1 (identifier: O94986-1) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,275
Mass (Da):147,345
Checksum:iD1E91CED05D5E054
GO
Isoform 2 (identifier: O94986-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1365-1368: ALPL → GMSK
     1369-1710: Missing.

Show »
Length:1,368
Mass (Da):158,079
Checksum:i03F71584CB87AB49
GO
Isoform 3 (identifier: O94986-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1156-1211: Missing.

Note: No experimental confirmation available.

Show »
Length:1,654
Mass (Da):189,071
Checksum:iC517B4CFBDAB87E9
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541S → L.
Corresponds to variant rs2289181 [ dbSNP | Ensembl ].
VAR_047932
Natural varianti265 – 2651Q → P in MCPH9. 1 Publication
VAR_063813
Natural varianti667 – 6671K → R in SCKL5. 1 Publication
Corresponds to variant rs200879436 [ dbSNP | Ensembl ].
VAR_065258
Natural varianti793 – 7931S → I.1 Publication
Corresponds to variant rs2289178 [ dbSNP | Ensembl ].
VAR_050779
Natural varianti914 – 9141L → V.
Corresponds to variant rs16961560 [ dbSNP | Ensembl ].
VAR_050780
Natural varianti1106 – 11061V → A.
Corresponds to variant rs16961557 [ dbSNP | Ensembl ].
VAR_050781

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei89 – 18193Missing in isoform 1.
VSP_035981Add
BLAST
Alternative sequencei1156 – 121156Missing in isoform 3.
VSP_047002Add
BLAST
Alternative sequencei1365 – 13684ALPL → GMSK in isoform 1 and isoform 2.
VSP_035983
Alternative sequencei1369 – 1710342Missing in isoform 1 and isoform 2.
VSP_035984Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti558 – 5581S → P in AAH69186. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS42033.1. [O94986-3]
CCDS58361.1. [O94986-4]
RefSeqiNP_001181927.1. NM_001194998.1. [O94986-4]
NP_055800.2. NM_014985.3. [O94986-3]
XP_006720500.1. XM_006720437.1. [O94986-4]
UniGeneiHs.443005.
Hs.597323.

Genome annotation databases

EnsembliENST00000325747; ENSP00000321000; ENSG00000103995. [O94986-1]
ENST00000380950; ENSP00000370337; ENSG00000103995. [O94986-4]
ENST00000399334; ENSP00000382271; ENSG00000103995. [O94986-3]
GeneIDi22995.
KEGGihsa:22995.
UCSCiuc001zwy.3. human. [O94986-4]
uc001zxa.2. human. [O94986-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS42033.1. [O94986-3 ]
CCDS58361.1. [O94986-4 ]
RefSeqi NP_001181927.1. NM_001194998.1. [O94986-4 ]
NP_055800.2. NM_014985.3. [O94986-3 ]
XP_006720500.1. XM_006720437.1. [O94986-4 ]
UniGenei Hs.443005.
Hs.597323.

3D structure databases

ProteinModelPortali O94986.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116642. 8 interactions.
DIPi DIP-31701N.
IntActi O94986. 7 interactions.
MINTi MINT-7034544.
STRINGi 9606.ENSP00000382271.

PTM databases

PhosphoSitei O94986.

Proteomic databases

MaxQBi O94986.
PaxDbi O94986.
PRIDEi O94986.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325747 ; ENSP00000321000 ; ENSG00000103995 . [O94986-1 ]
ENST00000380950 ; ENSP00000370337 ; ENSG00000103995 . [O94986-4 ]
ENST00000399334 ; ENSP00000382271 ; ENSG00000103995 . [O94986-3 ]
GeneIDi 22995.
KEGGi hsa:22995.
UCSCi uc001zwy.3. human. [O94986-4 ]
uc001zxa.2. human. [O94986-1 ]

Organism-specific databases

CTDi 22995.
GeneCardsi GC15M049005.
GeneReviewsi CEP152.
HGNCi HGNC:29298. CEP152.
HPAi HPA039408.
MIMi 613529. gene.
613823. phenotype.
614852. phenotype.
neXtProti NX_O94986.
Orphaneti 2512. Autosomal recessive primary microcephaly.
808. Seckel syndrome.
PharmGKBi PA142672126.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG140168.
HOGENOMi HOG000111522.
HOVERGENi HBG096403.
KOi K16728.
OMAi DDHRNKI.
OrthoDBi EOG7B8S36.
TreeFami TF332017.

Enzyme and pathway databases

Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi CEP152. human.
GeneWikii CEP152.
GenomeRNAii 22995.
NextBioi 43860.
PROi O94986.
SOURCEi Search...

Gene expression databases

ArrayExpressi O94986.
Bgeei O94986.
CleanExi HS_CEP152.
Genevestigatori O94986.

Family and domain databases

InterProi IPR029598. Cep152.
[Graphical view ]
PANTHERi PTHR10337:SF6. PTHR10337:SF6. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: FUNCTION, INTERACTION WITH PLK4 AND CENPJ.
  7. 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. Cited for: VARIANT MCPH9 PRO-265, SUBCELLULAR LOCATION.
  10. Cited for: VARIANT ILE-793.

Entry informationi

Entry nameiCE152_HUMAN
AccessioniPrimary (citable) accession number: O94986
Secondary accession number(s): E7ER66, Q17RV1, Q6NTA0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: June 26, 2013
Last modified: September 3, 2014
This is version 107 of the entry and version 4 of the sequence. [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 chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi