Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

CEP63

contributors: mct/npt/pgu - updated : 29-09-2016

HGNC name	centrosomal protein 63kDa
HGNC id	25815

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001042383 12 - 5326 NP_001035842 58 495 - 2003 14654843 NM_001042384 12 - 1906 NP_001035843 55.5 475 - 2003 14654843 isoform d NM_001042400 13 - 5392 NP_001035859 63 541 - 2003 14654843 NM_025180 16 - 6054 NP_079456 81.2 703 - 2003 14654843

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly   salivary gland       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	centrosomal protein
	CEP63 and CEP152 co-localize in a discrete ring around the proximal end of the parental centriole

basic FUNCTION	coordinates centrosome-dependent assembly of spindle structures
	loss of CEP63 may contribute to the occurrence of genome instability typical of aggressive cancers
	centrosomal recruitment factor for CDK1 essential for mitotic entry, providing a physical link between the centrosome and the cell-cycle machinery
	CEP152 and CEP63 are essential for maintaining normal centrosome numbers in cells
	CEP63 functions to ensure that centriole duplication occurs reliably in dividing mammalian cells
	centrosomal protein that facilitates centriole duplication and is regulated by the DNA damage response
	is required for maintaining normal centriole duplication and control of cell cycle progression
	is likely particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

CEP63-CEP152 MCPH complex is an essential part of the molecular machinery controlling centrosome numbers

INTERACTION

DNA

RNA

small molecule

protein	ATM and ATR target required for normal spindle assembly
	interacts with DISC1
	binds to and recruits CDK1 to centrosomes, and thereby regulates mitotic entry
	CEP63 forms a protein complex with CEP152
	interaction between CEP63 and CEP152 can occur independently of centrosome localisation and the two proteins are dependent on one another for centrosomal localisation
	KIAA0753 positively regulates centriole duplication and CEP63 centrosome localization
	CDK5RAP2, CEP152, WDR62 and CEP63 colocalize at the centrosome, and they interact to promote centriole duplication
	CCDC157 interacts with the microcephaly protein CEP63, centriolar satellite proteins, and microtubules

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCKL6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in invasive bladder tumours constitutional       loss of function severely impairs meiotic recombination, leading to profound male infertility

Susceptibility

to developmental dyslexia

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cep63-deficient mice recapitulate Seckel syndrome pathology