CENATAC
entrez
338657
canonical
uniprot
Q86UT8
canonical
ensembl
ENSG00000186166
resolver
ensembl
ENSG00000280975
resolver
ensp
ENSP00000334767
resolver
ensp
ENSP00000487197
resolver
enst
ENST00000334418
resolver
enst
ENST00000625528
resolver
genesymbol
CENATAC
resolver
hgnc
HGNC:30460
resolver
uniprot_entry
CATAC_HUMAN
resolver
amino_acid_sequence
MAPAQRCPLCRQTFFCGRGHVYSRKHQRQLKEALERLLPQVEAARKAIRAAQVERYVPEHERCCWCLCCGCEVREHLSHGNLTVLYGGLLEHLASPEHKKATNKFWWENKAEVQMKEKFLVTPQDYARFKKSMVKGLDSYEEKEDKVIKEMAAQIREVEQSRQEVVRSVLEPQAVPDPEEGSSAPRSWKGMNSQVASSLQQPSNLDLPPAPELDWMETGPSLTFIGHQDIPGVGNIHSGATPPWMIQDEEYIAGNQEIGPSYEEFLKEKEKQKLKKLPPDRVGANFDHSSRTSAGWLPSFGRVWNNGRRWQSRHQFKTEAAAMKKQSHTEKS
uniprot
proteins
disease_involvement
DISEASE: Mosaic variegated aneuploidy syndrome 4 (MVA4) [MIM:620153]: A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA4 inheritance is autosomal recessive. {ECO:0000269|PubMed:34009673}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the minor spliceosome that promotes splicing of a specific, rare minor intron subtype (PubMed:34009673). Negative regulator of centrosome duplication (PubMed:31722219). Constrains centriole number by modulating the degradation of the centrosome-duplication-associated protein SASS6 in an acetylation-dependent manner. SIRT1 deacetylates CENATAC in G1 phase, allowing for SASS6 accumulation on the centrosome and subsequent procentriole assembly. The CENATAC acetylation level is restored in mitosis by NAT10, promoting SASS6 proteasome degradation by facilitating SASS6 binding to APC/C E3 ubiquitin-protein ligase complex/FZR1 (PubMed:31722219). {ECO:0000269|PubMed:31722219, ECO:0000269|PubMed:34009673}.
uniprot
proteins
mass_dalton
37974
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="K->Q: Increases interaction with SASS6."; /evidence="ECO:0000269|PubMed:31722219"; MUTAGEN 31; /note="K->R: Strongly reduces acetylation. No effect on interaction with SASS6."; /evidence="ECO:0000269|PubMed:31722219
uniprot
proteins
post_translational_modification
PTM: Acetylated. Acetylation oscillates throughout the cell cycle, and the acetylation state at Lys-31 is regulated by the deacetylase SIRT1 and the acetyltransferase NAT10. Deacetylated CENATAC is responsible for its centrosome targeting, and acetylated CENATAC promotes SASS6 degradation by enhancing the binding affinity of SASS6 for APC/C E3 ubiquitin-protein ligase complex/FZR1. {ECO:0000269|PubMed:31722219}.
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
31722219
uniprot
proteins
pubmed
34009673
uniprot
proteins
sequence_length
332
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:31722219}. Note=Localizes to the proximal end of the mother centriole. During the cell cycle, from G1 to metaphase, gradually accumulates on the centrosome and then decreased significantly upon entry into anaphase. {ECO:0000269|PubMed:31722219}.
uniprot
proteins