Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96MT8 (CEP63_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 63 kDa

Short name=Cep63
Gene names
Name:CEP63
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length703 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication, through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression. Ref.5 Ref.6

Subunit structure

Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes. May also interact with CDK2. Ref.5 Ref.6

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Note: Colocalizes with CEP152 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. Ref.4 Ref.5 Ref.6

Involvement in disease

Seckel syndrome 6 (SCKL6) [MIM:614728]: 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.6

Miscellaneous

CEP63 and CCDC67/DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, CCDC67/DEUP1 mediates de novo centriole amplification in multiciliated cells.

Sequence similarities

Belongs to the CEP63 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DISC1Q9NRI57EBI-741977,EBI-529989

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96MT8-1)

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: Q96MT8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     490-651: Missing.
Isoform 3 (identifier: Q96MT8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-651: Missing.
Isoform 4 (identifier: Q96MT8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-521: AKEISLADLQENYIEALNKLVSENQQLQKDLM → RWGFTMLSSLVLNFGIQAIRQPQRPKVLELQV
     522-703: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 703703Centrosomal protein of 63 kDa
PRO_0000089493

Regions

Coiled coil22 – 199178 Potential
Coiled coil242 – 30665 Potential
Coiled coil353 – 533181 Potential
Coiled coil676 – 70328 Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.7

Natural variations

Alternative sequence310 – 35546Missing in isoform 3 and isoform 4.
VSP_012251
Alternative sequence490 – 651162Missing in isoform 2 and isoform 3.
VSP_012252
Alternative sequence490 – 52132AKEIS…QKDLM → RWGFTMLSSLVLNFGIQAIR QPQRPKVLELQV in isoform 4.
VSP_012253
Alternative sequence522 – 703182Missing in isoform 4.
VSP_012254
Natural variant6511S → L.
Corresponds to variant rs1127826 [ dbSNP | Ensembl ].
VAR_020604

Experimental info

Sequence conflict3651K → R in BAB14662. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: D5406B75BB19B5D0

FASTA70381,344
        10         20         30         40         50         60 
MEALLEGIQN RGHGGGFLTS CEAELQELMK QIDIMVAHKK SEWEGRTHAL ETCLKIREQE 

        70         80         90        100        110        120 
LKSLRSQLDV THKEVGMLHQ QVEEHEKIKQ EMTMEYKQEL KKLHEELCIL KRSYEKLQKK 

       130        140        150        160        170        180 
QMREFRGNTK NHREDRSEIE RLTAKIEEFR QKSLDWEKQR LIYQQQVSSL EAQRKALAEQ 

       190        200        210        220        230        240 
SEIIQAQLVN RKQKLESVEL SSQSEIQHLS SKLERANDTI CANELEIERL TMRVNDLVGT 

       250        260        270        280        290        300 
SMTVLQEQQQ KEEKLRESEK LLEALQEEKR ELKAALQSQE NLIHEARIQK EKLQEKVKAT 

       310        320        330        340        350        360 
NTQHAVEAIR PREESLAEKK YTSQGQGDLD SVLSQLNFTH TSEDLLQAEV TCLEGSLESV 

       370        380        390        400        410        420 
SATCKQLSQE LMEKYEELKR MEAHNNEYKA EIKKLKEQIL QGEQSYSSAL EGMKMEISHL 

       430        440        450        460        470        480 
TQELHQRDIT IASTKGSSSD MEKRLRAEMQ KAEDKAVEHK EILDQLESLK LENRHLSEMV 

       490        500        510        520        530        540 
MKLELGLHEA KEISLADLQE NYIEALNKLV SENQQLQKDL MNTKSQLEIS TQMCKKQNDR 

       550        560        570        580        590        600 
IFKPTHSRTT EFKNTEFKPT HGQHRHDGIK TEHYKTDLHS PRGQASDSIN PMSRVLSPLS 

       610        620        630        640        650        660 
PQISPCSSTR SLTSYSLCKT HSLPSALDTN EANFSDTMSE SMNDQEEFIS SCSLPVSPLG 

       670        680        690        700 
SIATRFLEEE ELRSHHILER LDAHIEELKR ESEKTVRQFT ALK 

« Hide

Isoform 2 [UniParc].

Checksum: F4D363D9A3DBCF81
Show »

FASTA54163,015
Isoform 3 [UniParc].

Checksum: B03D8ECF77C790C4
Show »

FASTA49557,908
Isoform 4 [UniParc].

Checksum: 74DF3B1F93503B2D
Show »

FASTA47555,591

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
Tissue: Placenta and Teratocarcinoma.
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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] (ISOFORMS 2 AND 3).
Tissue: Pancreas.
[4]"Proteomic characterization of the human centrosome by protein correlation profiling."
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION (ISOFORM 3), SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Lymphoblast.
[5]"Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance."
Loffler H., Fechter A., Matuszewska M., Saffrich R., Mistrik M., Marhold J., Hornung C., Westermann F., Bartek J., Kramer A.
Cancer Res. 71:2129-2139(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH CDK1 AND CDK2, SUBCELLULAR LOCATION.
[6]"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: INVOLVEMENT IN SCKL6, FUNCTION, INTERACTION WITH CEP152, SUBCELLULAR LOCATION.
[7]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK023448 mRNA. Translation: BAB14578.1.
AK023738 mRNA. Translation: BAB14662.1.
AK056465 mRNA. Translation: BAB71192.1.
CH471052 Genomic DNA. Translation: EAW79136.1.
CH471052 Genomic DNA. Translation: EAW79137.1.
CH471052 Genomic DNA. Translation: EAW79138.1.
CH471052 Genomic DNA. Translation: EAW79139.1.
CH471052 Genomic DNA. Translation: EAW79140.1.
CH471052 Genomic DNA. Translation: EAW79141.1.
BC014050 mRNA. Translation: AAH14050.1.
BC068997 mRNA. Translation: AAH68997.1.
BK005503 mRNA. Translation: DAA05503.1.
CCDSCCDS3086.1. [Q96MT8-1]
CCDS43152.1. [Q96MT8-4]
CCDS43153.1. [Q96MT8-2]
CCDS43154.1. [Q96MT8-3]
RefSeqNP_001035842.1. NM_001042383.1. [Q96MT8-3]
NP_001035843.1. NM_001042384.1. [Q96MT8-4]
NP_001035859.1. NM_001042400.1. [Q96MT8-2]
NP_079456.2. NM_025180.3. [Q96MT8-1]
XP_005247854.1. XM_005247797.1. [Q96MT8-1]
XP_006713823.1. XM_006713760.1. [Q96MT8-1]
UniGeneHs.443301.

3D structure databases

ProteinModelPortalQ96MT8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123200. 24 interactions.
DIPDIP-36374N.
IntActQ96MT8. 24 interactions.
MINTMINT-1443653.
STRING9606.ENSP00000336524.

PTM databases

PhosphoSiteQ96MT8.

Polymorphism databases

DMDM56748851.

Proteomic databases

MaxQBQ96MT8.
PaxDbQ96MT8.
PRIDEQ96MT8.

Protocols and materials databases

DNASU80254.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332047; ENSP00000328382; ENSG00000182923. [Q96MT8-3]
ENST00000337090; ENSP00000336524; ENSG00000182923. [Q96MT8-1]
ENST00000354446; ENSP00000346432; ENSG00000182923. [Q96MT8-4]
ENST00000383229; ENSP00000372716; ENSG00000182923. [Q96MT8-2]
ENST00000513612; ENSP00000426129; ENSG00000182923. [Q96MT8-1]
ENST00000606977; ENSP00000475903; ENSG00000182923. [Q96MT8-1]
GeneID80254.
KEGGhsa:80254.
UCSCuc003eql.1. human. [Q96MT8-3]
uc003eqm.3. human. [Q96MT8-4]
uc003eqn.1. human. [Q96MT8-2]
uc003eqo.1. human. [Q96MT8-1]

Organism-specific databases

CTD80254.
GeneCardsGC03P134204.
GeneReviewsCEP63.
HGNCHGNC:25815. CEP63.
HPAHPA058154.
HPA058313.
MIM614724. gene.
614728. phenotype.
neXtProtNX_Q96MT8.
Orphanet2512. Autosomal recessive primary microcephaly.
PharmGKBPA142672124.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG116818.
InParanoidQ96MT8.
KOK16763.
OMAKNTEFKP.
OrthoDBEOG71G9T8.
PhylomeDBQ96MT8.
TreeFamTF330595.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ96MT8.
BgeeQ96MT8.
CleanExHS_CEP63.
GenevestigatorQ96MT8.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCEP63. human.
GeneWikiCEP63.
GenomeRNAi80254.
NextBio70695.
PROQ96MT8.
SOURCESearch...

Entry information

Entry nameCEP63_HUMAN
AccessionPrimary (citable) accession number: Q96MT8
Secondary accession number(s): D3DND8 expand/collapse secondary AC list , D3DND9, D3DNE0, Q96CR0, Q9H8F5, Q9H8N0
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 93 of the entry and version 1 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 3

Human chromosome 3: entries, gene names and cross-references to MIM