CEP63
entrez
80254
canonical
uniprot
Q96MT8
canonical
ensembl
ENSG00000182923
resolver
ensp
ENSP00000328382
resolver
ensp
ENSP00000346432
resolver
ensp
ENSP00000372716
resolver
ensp
ENSP00000423225
resolver
ensp
ENSP00000426129
resolver
ensp
ENSP00000427526
resolver
ensp
ENSP00000475903
resolver
ensp
ENSP00000482219
resolver
ensp
ENSP00000502085
resolver
ensp
ENSP00000506728
resolver
ensp
ENSP00000506828
resolver
ensp
ENSP00000506896
resolver
ensp
ENSP00000507217
resolver
ensp
ENSP00000507228
resolver
ensp
ENSP00000507256
resolver
ensp
ENSP00000507263
resolver
ensp
ENSP00000507386
resolver
ensp
ENSP00000507548
resolver
ensp
ENSP00000507552
resolver
ensp
ENSP00000507596
resolver
ensp
ENSP00000507703
resolver
ensp
ENSP00000507704
resolver
ensp
ENSP00000507957
resolver
ensp
ENSP00000508034
resolver
ensp
ENSP00000508161
resolver
ensp
ENSP00000508291
resolver
ensp
ENSP00000508324
resolver
ensp
ENSP00000561658
resolver
ensp
ENSP00000715264
resolver
ensp
ENSP00000715267
resolver
ensp
ENSP00000715269
resolver
ensp
ENSP00000715270
resolver
ensp
ENSP00000715271
resolver
ensp
ENSP00000715272
resolver
enst
ENST00000514678
resolver
enst
ENST00000682402
resolver
enst
ENST00000682458
resolver
enst
ENST00000682593
resolver
enst
ENST00000682685
resolver
enst
ENST00000682822
resolver
enst
ENST00000683190
resolver
enst
ENST00000683997
resolver
enst
ENST00000684170
resolver
enst
ENST00000684492
resolver
enst
ENST00000684574
resolver
enst
ENST00000891599
resolver
genesymbol
CEP63
resolver
hgnc
HGNC:25815
resolver
uniprot
A0A804HIX3
resolver
uniprot
A0A804HKK0
resolver
uniprot
A0A804HKR1
resolver
uniprot
A0A804HL17
resolver
uniprot
D3DND8
resolver
uniprot
D3DND9
resolver
uniprot
D3DNE0
resolver
uniprot
H0YAL1
resolver
uniprot
Q96CR0
resolver
uniprot
Q9H8F5
resolver
uniprot
Q9H8N0
resolver
uniprot_entry
A0A804HIX3_HUMAN
resolver
uniprot_entry
A0A804HKK0_HUMAN
resolver
uniprot_entry
A0A804HKR1_HUMAN
resolver
uniprot_entry
A0A804HL17_HUMAN
resolver
uniprot_entry
CEP63_HUMAN
resolver
uniprot_entry
H0YAL1_HUMAN
resolver
uniprot_sec
D3DND8
resolver
uniprot_sec
D3DND9
resolver
uniprot_sec
D3DNE0
resolver
uniprot_sec
Q96CR0
resolver
uniprot_sec
Q9H8F5
resolver
uniprot_sec
Q9H8N0
resolver
amino_acid_sequence
MEALLEGIQNRGHGGGFLTSCEAELQELMKQIDIMVAHKKSEWEGRTHALETCLKIREQELKSLRSQLDVTHKEVGMLHQQVEEHEKIKQEMTMEYKQELKKLHEELCILKRSYEKLQKKQMREFRGNTKNHREDRSEIERLTAKIEEFRQKSLDWEKQRLIYQQQVSSLEAQRKALAEQSEIIQAQLVNRKQKLESVELSSQSEIQHLSSKLERANDTICANELEIERLTMRVNDLVGTSMTVLQEQQQKEEKLRESEKLLEALQEEKRELKAALQSQENLIHEARIQKEKLQEKVKATNTQHAVEAIRPREESLAEKKYTSQGQGDLDSVLSQLNFTHTSEDLLQAEVTCLEGSLESVSATCKQLSQELMEKYEELKRMEAHNNEYKAEIKKLKEQILQGEQSYSSALEGMKMEISHLTQELHQRDITIASTKGSSSDMEKRLRAEMQKAEDKAVEHKEILDQLESLKLENRHLSEMVMKLELGLHEAKEISLADLQENYIEALNKLVSENQQLQKDLMNTKSQLEISTQMCKKQNDRIFKPTHSRTTEFKNTEFKPTHGQHRHDGIKTEHYKTDLHSPRGQASDSINPMSRVLSPLSPQISPCSSTRSLTSYSLCKTHSLPSALDTNEANFSDTMSESMNDQEEFISSCSLPVSPLGSIATRFLEEEELRSHHILERLDAHIEELKRESEKTVRQFTALK
uniprot
proteins
disease_involvement
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 intellectual disability. {ECO:0000269|PubMed:21983783}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal spindle assembly (PubMed:21406398, PubMed:21983783, PubMed:26297806, PubMed:35793002). 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 (PubMed:21983783, PubMed:26297806). 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 (PubMed:21406398). 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). Promotes stabilization of FXR1 protein by inhibiting FXR1 ubiquitination (PubMed:35989368). {ECO:0000269|PubMed:21406398, ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:35793002, ECO:0000269|PubMed:35989368}.
uniprot
proteins
mass_dalton
81344
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated via 'Lys-48'-linked ubiquitin, leading to its degradation (PubMed:35989368). Deubiquitinated by USP36, promoting its stabilization (PubMed:35989368). {ECO:0000269|PubMed:35989368}.
uniprot
proteins
protein_family
CEP63 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21406398
uniprot
proteins
pubmed
21983783
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24613305
uniprot
proteins
pubmed
26297806
uniprot
proteins
pubmed
32402286
uniprot
proteins
pubmed
35793002
uniprot
proteins
pubmed
35989368
uniprot
proteins
sequence_length
703
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:32402286, ECO:0000269|PubMed:35793002}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:32402286}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24613305, ECO:0000269|PubMed:32402286}. Note=Colocalizes with CDK5RAP2, CEP152 and WDR62 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. {ECO:0000269|PubMed:21983783, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:32402286}.
uniprot
proteins