Skip Header

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

UniProtKB - Q96MT8 (CEP63_HUMAN)

Protein

Centrosomal protein of 63 kDa

Gene

CEP63

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

Functioni

Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). 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 (PubMed:21406398).3 Publications

Miscellaneous

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

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell cycle, Cell division, DNA damage, Mitosis

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

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 63 kDa
Short name:
Cep63
Gene namesi
Name:CEP63
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000182923.16
HGNCiHGNC:25815 CEP63
MIMi614724 gene
neXtProtiNX_Q96MT8

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

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Seckel syndrome 6 (SCKL6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614728

Keywords - Diseasei

Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi80254
GeneReviewsiCEP63
MalaCardsiCEP63
MIMi614728 phenotype
OpenTargetsiENSG00000182923
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA142672124

Polymorphism and mutation databases

BioMutaiCEP63
DMDMi56748851

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894931 – 703Centrosomal protein of 63 kDaAdd BLAST703

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei278PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96MT8
MaxQBiQ96MT8
PaxDbiQ96MT8
PeptideAtlasiQ96MT8
PRIDEiQ96MT8
ProteomicsDBi77406
77407 [Q96MT8-2]
77408 [Q96MT8-3]
77409 [Q96MT8-4]

PTM databases

iPTMnetiQ96MT8
PhosphoSitePlusiQ96MT8

Expressioni

Gene expression databases

BgeeiENSG00000182923 Expressed in 225 organ(s), highest expression level in testis
CleanExiHS_CEP63
ExpressionAtlasiQ96MT8 baseline and differential
GenevisibleiQ96MT8 HS

Organism-specific databases

HPAiHPA058154
HPA058313

Interactioni

Subunit structurei

Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes (PubMed:21406398). Interacts with CDK2, CDK5RAP2, WDR62, CEP90, KIAA0753/moonraker and CCDC14. CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:21406398, PubMed:26297806).3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi123200, 122 interactors
DIPiDIP-36374N
IntActiQ96MT8, 132 interactors
MINTiQ96MT8
STRINGi9606.ENSP00000336524

Structurei

3D structure databases

ProteinModelPortaliQ96MT8
SMRiQ96MT8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili22 – 199Sequence analysisAdd BLAST178
Coiled coili242 – 306Sequence analysisAdd BLAST65
Coiled coili353 – 533Sequence analysisAdd BLAST181
Coiled coili676 – 703Sequence analysisAdd BLAST28

Sequence similaritiesi

Belongs to the CEP63 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFN5 Eukaryota
ENOG4111HAY LUCA
GeneTreeiENSGT00530000063797
InParanoidiQ96MT8
KOiK16763
OMAiQKSLDWE
OrthoDBiEOG091G0LBG
PhylomeDBiQ96MT8
TreeFamiTF330595

Family and domain databases

InterProiView protein in InterPro
IPR029608 Cep63
IPR031470 Cep63/Deup1_N
PANTHERiPTHR18875:SF7 PTHR18875:SF7, 1 hit
PfamiView protein in Pfam
PF17045 CEP63, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q96MT8-1) [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
MEALLEGIQN RGHGGGFLTS CEAELQELMK QIDIMVAHKK SEWEGRTHAL 
        60         70         80         90        100
ETCLKIREQE LKSLRSQLDV THKEVGMLHQ QVEEHEKIKQ EMTMEYKQEL 
       110        120        130        140        150
KKLHEELCIL KRSYEKLQKK QMREFRGNTK NHREDRSEIE RLTAKIEEFR 
       160        170        180        190        200
QKSLDWEKQR LIYQQQVSSL EAQRKALAEQ SEIIQAQLVN RKQKLESVEL 
       210        220        230        240        250
SSQSEIQHLS SKLERANDTI CANELEIERL TMRVNDLVGT SMTVLQEQQQ 
       260        270        280        290        300
KEEKLRESEK LLEALQEEKR ELKAALQSQE NLIHEARIQK EKLQEKVKAT 
       310        320        330        340        350
NTQHAVEAIR PREESLAEKK YTSQGQGDLD SVLSQLNFTH TSEDLLQAEV 
       360        370        380        390        400
TCLEGSLESV SATCKQLSQE LMEKYEELKR MEAHNNEYKA EIKKLKEQIL 
       410        420        430        440        450
QGEQSYSSAL EGMKMEISHL TQELHQRDIT IASTKGSSSD MEKRLRAEMQ 
       460        470        480        490        500
KAEDKAVEHK EILDQLESLK LENRHLSEMV MKLELGLHEA KEISLADLQE 
       510        520        530        540        550
NYIEALNKLV SENQQLQKDL MNTKSQLEIS TQMCKKQNDR IFKPTHSRTT 
       560        570        580        590        600
EFKNTEFKPT HGQHRHDGIK TEHYKTDLHS PRGQASDSIN PMSRVLSPLS 
       610        620        630        640        650
PQISPCSSTR SLTSYSLCKT HSLPSALDTN EANFSDTMSE SMNDQEEFIS 
       660        670        680        690        700
SCSLPVSPLG SIATRFLEEE ELRSHHILER LDAHIEELKR ESEKTVRQFT 

ALK
Length:703
Mass (Da):81,344
Last modified:December 1, 2001 - v1
Checksum:iD5406B75BB19B5D0
GO
Isoform 2 (identifier: Q96MT8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     490-651: Missing.

Show »
Length:541
Mass (Da):63,015
Checksum:iF4D363D9A3DBCF81
GO
Isoform 3 (identifier: Q96MT8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-355: Missing.
     490-651: Missing.

Show »
Length:495
Mass (Da):57,908
Checksum:iB03D8ECF77C790C4
GO
Isoform 4 (identifier: Q96MT8-4) [UniParc]FASTAAdd to basket

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

Show »
Length:475
Mass (Da):55,591
Checksum:i74DF3B1F93503B2D
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAY6D6RAY6_HUMAN
Centrosomal protein of 63 kDa
CEP63
162Annotation score:
H0YAL1H0YAL1_HUMAN
Centrosomal protein of 63 kDa
CEP63
194Annotation score:
H0YAE6H0YAE6_HUMAN
Centrosomal protein of 63 kDa
CEP63
245Annotation score:
H0Y900H0Y900_HUMAN
Centrosomal protein of 63 kDa
CEP63
155Annotation score:
D6R9Q4D6R9Q4_HUMAN
Centrosomal protein of 63 kDa
CEP63
63Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti365K → R in BAB14662 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020604651S → L. Corresponds to variant dbSNP:rs1127826EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012251310 – 355Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST46
Alternative sequenceiVSP_012252490 – 651Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST162
Alternative sequenceiVSP_012253490 – 521AKEIS…QKDLM → RWGFTMLSSLVLNFGIQAIR QPQRPKVLELQV in isoform 4. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_012254522 – 703Missing in isoform 4. 1 PublicationAdd BLAST182

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS3086.1 [Q96MT8-1]
CCDS43152.1 [Q96MT8-4]
CCDS43153.1 [Q96MT8-2]
CCDS43154.1 [Q96MT8-3]
RefSeqiNP_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_005247797.3 [Q96MT8-1]
XP_006713823.1, XM_006713760.3 [Q96MT8-1]
XP_011511496.1, XM_011513194.2 [Q96MT8-1]
XP_016862743.1, XM_017007254.1 [Q96MT8-2]
XP_016862744.1, XM_017007255.1 [Q96MT8-2]
XP_016862745.1, XM_017007256.1 [Q96MT8-2]
XP_016862751.1, XM_017007262.1 [Q96MT8-3]
XP_016862752.1, XM_017007263.1 [Q96MT8-3]
XP_016862753.1, XM_017007264.1 [Q96MT8-3]
XP_016862755.1, XM_017007266.1 [Q96MT8-4]
XP_016862756.1, XM_017007267.1 [Q96MT8-4]
UniGeneiHs.443301

Genome annotation databases

EnsembliENST00000332047; 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]
ENST00000620544; ENSP00000482219; ENSG00000182923 [Q96MT8-4]
GeneIDi80254
KEGGihsa:80254
UCSCiuc003eql.2 human [Q96MT8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCEP63_HUMAN
AccessioniPrimary (citable) accession number: Q96MT8
Secondary accession number(s): D3DND8
, D3DND9, D3DNE0, Q96CR0, Q9H8F5, Q9H8N0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 132 of the entry and version 1 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again