CDK5RAP2
entrez
55755
canonical
uniprot
Q96SN8
canonical
ensembl
ENSG00000136861
resolver
ensp
ENSP00000343818
resolver
ensp
ENSP00000353317
resolver
ensp
ENSP00000354065
resolver
ensp
ENSP00000400395
resolver
ensp
ENSP00000508692
resolver
ensp
ENSP00000510289
resolver
ensp
ENSP00000533006
resolver
ensp
ENSP00000533008
resolver
ensp
ENSP00000698304
resolver
ensp
ENSP00000781696
resolver
enst
ENST00000360822
resolver
enst
ENST00000687279
resolver
enst
ENST00000687633
resolver
genesymbol
CDK5RAP2
resolver
genesymbol_syn
CEP215
resolver
genesymbol_syn
KIAA1633
resolver
hgnc
HGNC:18672
resolver
uniprot
A0A0A0MRG9
resolver
uniprot
A0A8I5KXG0
resolver
uniprot
A0A8I5QKL1
resolver
uniprot
B3KVI2
resolver
uniprot
B9EG74
resolver
uniprot
Q5JV18
resolver
uniprot
Q7Z3L4
resolver
uniprot
Q7Z3U1
resolver
uniprot
Q7Z7I6
resolver
uniprot
Q9BSW0
resolver
uniprot
Q9H6J6
resolver
uniprot
Q9HCD9
resolver
uniprot
Q9NV90
resolver
uniprot
Q9UIW9
resolver
uniprot_entry
A0A0A0MRG9_HUMAN
resolver
uniprot_entry
A0A8I5KXG0_HUMAN
resolver
uniprot_entry
A0A8I5QKL1_HUMAN
resolver
uniprot_entry
B3KVI2_HUMAN
resolver
uniprot_entry
B9EG74_HUMAN
resolver
uniprot_entry
CK5P2_HUMAN
resolver
uniprot_sec
Q5JV18
resolver
uniprot_sec
Q7Z3L4
resolver
uniprot_sec
Q7Z3U1
resolver
uniprot_sec
Q7Z7I6
resolver
uniprot_sec
Q9BSW0
resolver
uniprot_sec
Q9H6J6
resolver
uniprot_sec
Q9HCD9
resolver
uniprot_sec
Q9NV90
resolver
uniprot_sec
Q9UIW9
resolver
amino_acid_sequence
MMDLVLEEDVTVPGTLSGCSGLVPSVPDDLDGINPNAGLGNGLLPNVSEETVSPTRARNMKDFENQITELKKENFNLKLRIYFLEERMQQEFHGPTEHIYKTNIELKVEVESLKRELQEREQLLIKASKAVESLAEAGGSEIQRVKEDARKKVQQVEDLLTKRILLLEKDVTAAQAELEKAFAGTETEKALRLRLESKLSEMKKMHEGDLAMALVLDEKDRLIEELKLSLKSKEALIQCLKEEKSQMACPDENVSSGELRGLCAAPREEKERETEAAQMEHQKERNSFEERIQALEEDLREKEREIATEKKNSLKRDKAIQGLTMALKSKEKKVEELNSEIEKLSAAFAKAREALQKAQTQEFQGSEDYETALSGKEALSAALRSQNLTKSTENHRLRRSIKKITQELSDLQQERERLEKDLEEAHREKSKGDCTIRDLRNEVEKLRNEVNEREKAMENRYKSLLSESNKKLHNQEQVIKHLTESTNQKDVLLQKFNEKDLEVIQQNCYLMAAEDLELRSEGLITEKCSSQQPPGSKTIFSKEKKQSSDYEELIQVLKKEQDIYTHLVKSLQESDSINNLQAELNKIFALRKQLEQDVLSYQNLRKTLEEQISEIRRREEESFSLYSDQTSYLSICLEENNRFQVEHFSQEELKKKVSDLIQLVKELYTDNQHLKKTIFDLSCMGFQGNGFPDRLASTEQTELLASKEDEDTIKIGEDDEINFLSDQHLQQSNEIMKDLSKGGCKNGYLRHTESKISDCDGAHAPGCLEEGAFINLLAPLFNEKATLLLESRPDLLKVVRELLLGQLFLTEQEVSGEHLDGKTEKTPKQKGELVHFVQTNSFSKPHDELKLSCEAQLVKAGEVPKVGLKDASVQTVATEGDLLRFKHEATREAWEEKPINTALSAEHRPENLHGVPGWQAALLSLPGITNREAKKSRLPILIKPSRSLGNMYRLPATQEVVTQLQSQILELQGELKEFKTCNKQLHQKLILAEAVMEGRPTPDKTLLNAQPPVGAAYQDSPGEQKGIKTTSSVWRDKEMDSDQQRSYEIDSEICPPDDLASLPSCKENPEDVLSPTSVATYLSSKSQPSAKVSVMGTDQSESINTSNETEYLKQKIHDLETELEGYQNFIFQLQKHSQCSEAIITVLCGTEGAQDGLSKPKNGSDGEEMTFSSLHQVRYVKHVKILGPLAPEMIDSRVLENLKQQLEEQEYKLQKEQNLNMQLFSEIHNLQNKFRDLSPPRYDSLVQSQARELSLQRQQIKDGHGICVISRQHMNTMIKAFEELLQASDVDYCVAEGFQEQLNQCAELLEKLEKLFLNGKSVGVEMNTQNELMERIEEDNLTYQHLLPESPEPSASHALSDYETSEKSFFSRDQKQDNETEKTSVMVNSFSQDLLMEHIQEIRTLRKRLEESIKTNEKLRKQLERQGSEFVQGSTSIFASGSELHSSLTSEIHFLRKQNQALNAMLIKGSRDKQKENDKLRESLSRKTVSLEHLQREYASVKEENERLQKEGSEKERHNQQLIQEVRCSGQELSRVQEEVKLRQQLLSQNDKLLQSLRVELKAYEKLDEEHRRLREASGEGWKGQDPFRDLHSLLMEIQALRLQLERSIETSSTLQSRLKEQLARGAEKAQEGALTLAVQAVSIPEVPLQPDKHDGDKYPMESDNSFDLFDSSQAVTPKSVSETPPLSGNDTDSLSCDSGSSATSTPCVSRLVTGHHLWASKNGRHVLGLIEDYEALLKQISQGQRLLAEMDIQTQEAPSSTSQELGTKGPHPAPLSKFVSSVSTAKLTLEEAYRRLKLLWRVSLPEDGQCPLHCEQIGEMKAEVTKLHKKLFEQEKKLQNTMKLLQLSKRQEKVIFDQLVVTHKILRKARGNLELRPGGAHPGTCSPSRPGS
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 3, primary, autosomal recessive (MCPH3) [MIM:604804]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269|PubMed:15793586}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potential regulator of CDK5 activity via its interaction with CDK5R1 (PubMed:15164053). Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter (PubMed:19282672). Together with EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends (PubMed:18042621, PubMed:17959831, PubMed:19553473). Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gTuRC) onto centrosomes (PubMed:18042621, PubMed:17959831, PubMed:26485573, PubMed:39321809). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity). {ECO:0000250|UniProtKB:Q8K389, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:17959831, ECO:0000269|PubMed:18042621, ECO:0000269|PubMed:19282672, ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:39321809}.
uniprot
proteins
mass_dalton
215038
uniprot
proteins
mutagenesis
MUTAGEN 938..939; /note="LP->AA: Loss of interaction with MAPRE1."; /evidence="ECO:0000269|PubMed:19553473"; MUTAGEN 1865; /note="K->A: No effect on centrosomal attachment, Golgi localization and loss of interaction with CALM1; when associated with A-1869."; /evidence="ECO:0000269|PubMed:20466722"; MUTAGEN 1869; /note="K->A: No effect on centrosomal attachment, Golgi localization and loss of interaction to CALM1; when associated with A-1865."; /evidence="ECO:0000269|PubMed:20466722
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in vitro by CDK5. {ECO:0000250|UniProtKB:Q9JLH5}.
uniprot
proteins
pubmed
10721722
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15793586
uniprot
proteins
pubmed
17959831
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18042621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19282672
uniprot
proteins
pubmed
19543530
uniprot
proteins
pubmed
19553473
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20466722
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25503564
uniprot
proteins
pubmed
25657325
uniprot
proteins
pubmed
26482847
uniprot
proteins
pubmed
26485573
uniprot
proteins
pubmed
29162697
uniprot
proteins
pubmed
31974111
uniprot
proteins
pubmed
35849559
uniprot
proteins
pubmed
39321809
uniprot
proteins
sequence_length
1893
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26482847, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:31974111, ECO:0000269|PubMed:35849559}. Golgi apparatus {ECO:0000269|PubMed:20466722}. Cytoplasm {ECO:0000269|PubMed:19553473}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573}. Note=Found in the pericentriolar region adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes to microtubule plus ends in the presence of EB1/MAPRE1. Localization to centrosomes versus Golgi apparatus may be cell type-dependent. For instance, in SK-BR-3 and HEK293F cells, localizes to centrosomes but not to the Golgi apparatus (PubMed:29162697). {ECO:0000269|PubMed:19553473, ECO:0000269|PubMed:26485573, ECO:0000269|PubMed:29162697}.
uniprot
proteins