CPAP
entrez
55835
canonical
uniprot
Q9HC77
canonical
ensembl
ENSG00000151849
resolver
ensp
ENSP00000371308
resolver
ensp
ENSP00000441090
resolver
ensp
ENSP00000717366
resolver
ensp
ENSP00000745945
resolver
enst
ENST00000545981
resolver
genesymbol
CPAP
resolver
genesymbol_syn
CENPJ
resolver
genesymbol_syn
LAP
resolver
genesymbol_syn
LIP1
resolver
hgnc
HGNC:17272
resolver
uniprot
A8K8P1
resolver
uniprot
F6VUX8
resolver
uniprot
Q2KHM6
resolver
uniprot
Q5JPD5
resolver
uniprot
Q5T6R5
resolver
uniprot
Q96KS5
resolver
uniprot
Q9C067
resolver
uniprot_entry
A8K8P1_HUMAN
resolver
uniprot_entry
CPAP_HUMAN
resolver
uniprot_entry
F6VUX8_HUMAN
resolver
uniprot_sec
Q2KHM6
resolver
uniprot_sec
Q5JPD5
resolver
uniprot_sec
Q5T6R5
resolver
uniprot_sec
Q96KS5
resolver
uniprot_sec
Q9C067
resolver
amino_acid_sequence
MFLMPTSSELNSGQNFLTQWMTNPSRAGVILNRGFPILEADKEKRAAVDISTSFPIKGTHFSDSFSFINEEDSLLEEQKLESNNPYKPQSDKSETHTAFPCIKKGPQVAACHSAPGHQEENKNDFIPDLASEFKEGAYKDPLFKKLEQLKEVQQKKQEQLKRQQLEQLQRLMEEQEKLLTMVSGQCTLPGLSLLPDDQSQKHRSPGNTTTGERATCCFPSYVYPDPTQEETYPSNILSHEQSNFCRTAHGDFVLTSKRASPNLFSEAQYQEAPVEKNNLKEENRNHPTGESILCWEKVTEQIQEANDKNLQKHDDSSEVANIEERPIKAAIGERKQTFEDYLEEQIQLEEQELKQKQLKEAEGPLPIKAKPKQPFLKRGEGLARFTNAKSKFQKGKESKLVTNQSTSEDQPLFKMDRQQLQRKTALKNKELCADNPILKKDSKARTKSGSVTLSQKPKMLKCSNRKSLSPSGLKIQTGKKCDGQFRDQIKFENKVTSNNKENVTECPKPCDTGCTGWNKTQGKDRLPLSTGPASRLAAKSPIRETMKESESSLDVSLQKKLETWEREKEKENLELDEFLFLEQAADEISFSSNSSFVLKILERDQQICKGHRMSSTPVKAVPQKTNPADPISHCNRSEDLDHTAREKESECEVAPKQLHSLSSADELREQPCKIRKAVQKSTSENQTEWNARDDEGVPNSDSSTDSEEQLDVTIKPSTEDRERGISSREDSPQVCDDKGPFKDTRTQEDKRRDVDLDLSDKDYSSDESIMESIKHKVSEPSRSSSLSLSKMDFDDERTWTDLEENLCNHDVVLGNESTYGTPQTCYPNNEIGILDKTIKRKIAPVKRGEDLSKSRRSRSPPTSELMMKFFPSLKPKPKSDSHLGNELKLNISQDQPPGDNARSQVLREKIIELETEIEKFKAENASLAKLRIERESALEKLRKEIADFEQQKAKELARIEEFKKEEMRKLQKERKVFEKYTTAARTFPDKKEREEIQTLKQQIADLREDLKRKETKWSSTHSRLRSQIQMLVRENTDLREEIKVMERFRLDAWKRAEAIESSLEVEKKDKLANTSVRFQNSQISSGTQVEKYKKNYLPMQGNPPRRSKSAPPRDLGNLDKGQAASPREPLEPLNFPDPEYKEEEEDQDIQGEISHPDGKVEKVYKNGCRVILFPNGTRKEVSADGKTITVTFFNGDVKQVMPDQRVIYYYAAAQTTHTTYPEGLEVLHFSSGQIEKHYPDGRKEITFPDQTVKNLFPDGQEESIFPDGTIVRVQRDGNKLIEFNNGQRELHTAQFKRREYPDGTVKTVYANGHQETKYRSGRIRVKDKEGNVLMDTEL
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]: 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 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, ECO:0000269|PubMed:22020124}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Seckel syndrome 4 (SCKL4) [MIM:613676]: 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:20522431}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in cell division and centrosome function by participating in centriole duplication (PubMed:17681131, PubMed:20531387). Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as a microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles (PubMed:15047868, PubMed:27219064, PubMed:27306797). Required for centriole elongation and for STIL-mediated centriole amplification (PubMed:22020124). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release (PubMed:27306797). {ECO:0000269|PubMed:15047868, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:20531387, ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:27185865, ECO:0000269|PubMed:27219064, ECO:0000305|PubMed:27306797}.
uniprot
proteins
mass_dalton
153000
uniprot
proteins
mutagenesis
MUTAGEN 338; /note="F->A: Decreases interaction with alpha/beta-tubulin; when associated with A-339 and A-341."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 339; /note="E->A: Decreases interaction with alpha/beta-tubulin; when associated with A-338 and A-341."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 341; /note="Y->A: Decreases interaction with alpha/beta-tubulin; when associated with A-338 and A-339."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 343; /note="E->A: Slightly decreases interaction with alpha/beta-tubulin; causes overly long daughter centrioles and enhances ciliary length; when associated with A-344."; /evidence="ECO:0000269|PubMed:27306797"; MUTAGEN 344; /note="E->A: Slightly decreases interaction with alpha/beta-tubulin; causes overly long daughter centrioles and enhances ciliary length; when associated with A-343."; /evidence="ECO:0000269|PubMed:27306797"; MUTAGEN 375; /note="F->A: Decreases interaction with alpha/beta-tubulin; disrupts association with microtubule distal tip; no effect on association with microtubule lattice; when associated with A-385."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 375; /note="F->A: Strongly decreases interaction with alpha/beta-tubulin; causes shorter centrioles and doublet microtubules in cilia."; /evidence="ECO:0000269|PubMed:27306797"; MUTAGEN 377; /note="K->E: Decreases interaction with alpha/beta-tubulin; disrupts association with microtubule distal tip; no effect on association with microtubule lattice; when associated with E-378."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 378; /note="R->E: Decreases interaction with alpha/beta-tubulin; disrupts association with microtubule distal tip; no effect on association with microtubule lattice; when associated with E-377."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 385; /note="F->A: Decreases interaction with alpha/beta-tubulin; disrupts association with microtubule distal tip; no effect on association with microtubule lattice; when associated with A-375."; /evidence="ECO:0000269|PubMed:27219064"; MUTAGEN 589; /note="S->A: Abolishes phosphorylation by PLK2 and procentriole formation; when associated with A-595."; /evidence="ECO:0000269|PubMed:20531387"; MUTAGEN 595; /note="S->A: Abolishes phosphorylation by PLK2 and procentriole formation; when associated with A-589."; /evidence="ECO:0000269|PubMed:20531387
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly. {ECO:0000269|PubMed:20531387}.
uniprot
proteins
protein_family
TCP10 family
uniprot
proteins
pubmed
11003675
uniprot
proteins
pubmed
11984006
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15047868
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15793586
uniprot
proteins
pubmed
17681131
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19131341
uniprot
proteins
pubmed
20522431
uniprot
proteins
pubmed
20531387
uniprot
proteins
pubmed
20852615
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22020124
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25385835
uniprot
proteins
pubmed
27185865
uniprot
proteins
pubmed
27219064
uniprot
proteins
pubmed
27306797
uniprot
proteins
sequence_length
1338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11003675, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20531387}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:20531387, ECO:0000269|PubMed:22020124}. Note=Localized within the center of microtubule asters (PubMed:11003675). During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles (PubMed:17681131). {ECO:0000269|PubMed:11003675, ECO:0000269|PubMed:17681131}.
uniprot
proteins