Q96MT8 (CEP63_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 63 kDa
Short name=Cep63

Gene names

Name:

CEP63

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	703 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for normal spindle assembly. Maintains centrosome numbers 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 By similarity. 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	Cytoplasm › cytoskeleton › centrosome. 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
Sequence similarities	Belongs to the CEP63 family.

Ontologies

Keywords
Biological process	Cell cycle Cell division DNA damage Mitosis
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Dwarfism Mental retardation
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA damage checkpoint Inferred from sequence or structural similarity. Source: UniProtKB G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cell division Inferred from electronic annotation. Source: UniProtKB-KW mitosis Inferred from electronic annotation. Source: UniProtKB-KW signal transduction in response to DNA damage Inferred from sequence or structural similarity. Source: UniProtKB spindle assembly Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	centrosome Inferred from direct assay Ref.4PubMed 21399614. Source: UniProtKB cytosol Traceable author statement. Source: Reactome spindle pole Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DISC1	Q9NRI5	7	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 703	703	Centrosomal protein of 63 kDa		PRO_0000089493
Regions
	Coiled coil	22 – 199	178	Potential
	Coiled coil	242 – 306	65	Potential
	Coiled coil	353 – 533	181	Potential
	Coiled coil	676 – 703	28	Potential
Natural variations
	Alternative sequence	310 – 355	46	Missing in isoform 3 and isoform 4.		VSP_012251
	Alternative sequence	490 – 651	162	Missing in isoform 2 and isoform 3.		VSP_012252
	Alternative sequence	490 – 521	32	AKEIS…QKDLM → RWGFTMLSSLVLNFGIQAIR QPQRPKVLELQV in isoform 4.		VSP_012253
	Alternative sequence	522 – 703	182	Missing in isoform 4.		VSP_012254
	Natural variant	651	1	S → L. Corresponds to variant rs1127826 [ dbSNP | Ensembl ].		VAR_020604
Experimental info
	Sequence conflict	365	1	K → R in BAB14662. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: D5406B75BB19B5D0	FASTA	703	81,344
	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
	Isoform 2 [UniParc]. Checksum: F4D363D9A3DBCF81	FASTA	541	63,015
	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 MKLELGLHEC SLPVSPLGSI ATRFLEEEEL RSHHILERLD AHIEELKRES EKTVRQFTAL K
	Isoform 3 [UniParc]. Checksum: B03D8ECF77C790C4	FASTA	495	57,908
	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 NTQHAVEAIS LESVSATCKQ LSQELMEKYE ELKRMEAHNN EYKAEIKKLK EQILQGEQSY 370 380 390 400 410 420 SSALEGMKME ISHLTQELHQ RDITIASTKG SSSDMEKRLR AEMQKAEDKA VEHKEILDQL 430 440 450 460 470 480 ESLKLENRHL SEMVMKLELG LHECSLPVSP LGSIATRFLE EEELRSHHIL ERLDAHIEEL 490 KRESEKTVRQ FTALK
	Isoform 4 [UniParc]. Checksum: 74DF3B1F93503B2D	FASTA	475	55,591
	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 NTQHAVEAIS LESVSATCKQ LSQELMEKYE ELKRMEAHNN EYKAEIKKLK EQILQGEQSY 370 380 390 400 410 420 SSALEGMKME ISHLTQELHQ RDITIASTKG SSSDMEKRLR AEMQKAEDKA VEHKEILDQL 430 440 450 460 470 ESLKLENRHL SEMVMKLELG LHERWGFTML SSLVLNFGIQ AIRQPQRPKV LELQV

References

	« Hide 'large scale' referencesShow '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. , 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. , 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), MASS SPECTROMETRY, 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.
+	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.
IPI	IPI00018708. IPI00041779. IPI00043373. IPI00060568.
RefSeq	NP_001035842.1. NM_001042383.1. NP_001035843.1. NM_001042384.1. NP_001035859.1. NM_001042400.1. NP_079456.2. NM_025180.3.
UniGene	Hs.443301.
3D structure databases
ProteinModelPortal	Q96MT8.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-36374N.
IntAct	Q96MT8. 18 interactions.
MINT	MINT-1443653.
STRING	9606.ENSP00000336524.
PTM databases
PhosphoSite	Q96MT8.
Polymorphism databases
DMDM	56748851.
Proteomic databases
PaxDb	Q96MT8.
PRIDE	Q96MT8.
Protocols and materials databases
DNASU	80254.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332047; ENSP00000328382; ENSG00000182923. ENST00000337090; ENSP00000336524; ENSG00000182923. ENST00000354446; ENSP00000346432; ENSG00000182923. ENST00000383229; ENSP00000372716; ENSG00000182923. ENST00000513612; ENSP00000426129; ENSG00000182923.
GeneID	80254.
KEGG	hsa:80254.
UCSC	uc003eql.1. human. uc003eqm.3. human. uc003eqn.1. human. uc003eqo.1. human.
Organism-specific databases
CTD	80254.
GeneCards	GC03P134204.
HGNC	HGNC:25815. CEP63.
MIM	614724. gene. 614728. phenotype.
neXtProt	NX_Q96MT8.
Orphanet	2512. Autosomal recessive primary microcephaly.
PharmGKB	PA142672124.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG116818.
InParanoid	Q96MT8.
KO	K16763.
OMA	YRAEIKK.
PhylomeDB	Q96MT8.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q96MT8.
Bgee	Q96MT8.
CleanEx	HS_CEP63.
Genevestigator	Q96MT8.
GermOnline	ENSG00000182923. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CEP63. human.
GenomeRNAi	80254.
NextBio	70695.
SOURCE	Search...

Entry information

Entry name

CEP63_HUMAN

Accession

Primary (citable) accession number: Q96MT8
Secondary accession number(s): D3DND8 , D3DND9, D3DNE0, Q96CR0, Q9H8F5, Q9H8N0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 21, 2004
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.