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Protein

Centrosomal protein of 63 kDa

Gene

CEP63

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000182923.16.
HGNCiHGNC:25815. CEP63.

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.

PTM databases

iPTMnetiQ96MT8.
PhosphoSitePlusiQ96MT8.

Expressioni

Gene expression databases

BgeeiENSG00000182923.
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

Show more details

Protein-protein interaction databases

BioGridi123200. 114 interactors.
DIPiDIP-36374N.
IntActiQ96MT8. 130 interactors.
MINTiMINT-1443653.
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

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

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:rs1127826Ensembl.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: October 25, 2017
This is version 125 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

Documents

  1. Human chromosome 3
    Human chromosome 3: 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