KAT6A
entrez
7994
canonical
uniprot
Q92794
canonical
ensembl
ENSG00000083168
resolver
ensp
ENSP00000265713
resolver
ensp
ENSP00000380136
resolver
ensp
ENSP00000430606
resolver
enst
ENST00000265713
resolver
enst
ENST00000396930
resolver
enst
ENST00000485568
resolver
genesymbol
KAT6A
resolver
genesymbol
MYST3
resolver
genesymbol_syn
MOZ
resolver
genesymbol_syn
MYST3
resolver
genesymbol_syn
RUNXBP2
resolver
genesymbol_syn
ZNF220
resolver
hgnc
HGNC:13013
resolver
uniprot
A5PKX7
resolver
uniprot
A5PLL3
resolver
uniprot
F6Y0D6
resolver
uniprot
Q76L81
resolver
uniprot_entry
A5PKX7_HUMAN
resolver
uniprot_entry
A5PLL3_HUMAN
resolver
uniprot_entry
F6Y0D6_HUMAN
resolver
uniprot_entry
KAT6A_HUMAN
resolver
uniprot_sec
Q76L81
resolver
amino_acid_sequence
MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRDQGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGPGRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTSDWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLCEFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVGYFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLTGICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELEISVGKSVSHENKEQDSYSVESEKKPEVMAPVSSTRLSKQVLPHDSLPANSQPSRRGRWGRKNRKTQERFGDKDSKLLLEETSSAPQEQYGECGEKSEATQEQYTESEEQLVASEEQPSQDGKPDLPKRRLSEGVEPWRGQLKKSPEALKCRLTEGSERLPRRYSEGDRAVLRGFSESSEEEEEPESPRSSSPPILTKPTLKRKKPFLHRRRRVRKRKHHNSSVVTETISETTEVLDEPFEDSDSERPMPRLEPTFEIDEEEEEEDENELFPREYFRRLSSQDVLRCQSSSKRKSKDEEEDEESDDADDTPILKPVSLLRKRDVKNSPLEPDTSTPLKKKKGWPKGKSRKPIHWKKRPGRKPGFKLSREIMPVSTQACVIEPIVSIPKAGRKPKIQESEETVEPKEDMPLPEERKEEEEMQAEAEEAEEGEEEDAASSEVPAASPADSSNSPETETKEPEVEEEEEKPRVSEEQRQSEEEQQELEEPEPEEEEDAAAETAQNDDHDADDEDDGHLESTKKKELEEQPTREDVKEEPGVQESFLDANMQKSREKIKDKEETELDSEEEQPSHDTSVVSEQMAGSEDDHEEDSHTKEELIELKEEEEIPHSELDLETVQAVQSLTQEESSEHEGAYQDCEETLAACQTLQSYTQADEDPQMSMVEDCHASEHNSPISSVQSHPSQSVRSVSSPNVPALESGYTQISPEQGSLSAPSMQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENYENPSSYDSTMGGSICGNSSSQSSCSYGGLSSSSSLTQSSCVVTQQMASMGSSCSMMQQSSVQPAANCSIKSPQSCVVERPPSNQQQQPPPPPPQQPQPPPPQPQPAPQPPPPQQQPQQQPQPQPQQPPPPPPPQQQPPLSQCSMNNSFTPAPMIMEIPESGSTGNISIYERIPGDFGAGSYSQPSATFSLAKLQQLTNTIMDPHAMPYSHSPAVTSYATSVSLSNTGLAQLAPSHPLAGTPQAQATMTPPPNLASTTMNLTSPLLQCNMSATNIGIPHTQRLQGQMPVKGHISIRSKSAPLPSAAAHQQQLYGRSPSAVAMQAGPRALAVQRGMNMGVNLMPTPAYNVNSMNMNTLNAMNSYRMTQPMMNSSYHSNPAYMNQTAQYPMQMQMGMMGSQAYTQQPMQPNPHGNMMYTGPSHHSYMNAAGVPKQSLNGPYMRR
uniprot
proteins
disease_involvement
DISEASE: Note=Chromosomal aberrations involving KAT6A may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with CREBBP (PubMed:8782817). Translocation t(8;22)(p11;q13) with EP300 (PubMed:10824998). KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription (PubMed:11742995). Inversion inv(8)(p11;q13) generates the KAT6A-NCOA2 oncogene, which consists of the N-terminal part of KAT6A and the C-terminal part of NCOA2/TIF2. KAT6A-NCOA2 binds to CREBBP and disrupts its function in transcription activation (PubMed:12676584). {ECO:0000269|PubMed:10824998, ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:12676584, ECO:0000269|PubMed:8782817}.; DISEASE: Note=A chromosomal aberration involving KAT6A is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with ASXL2 generates a KAT6A-ASXL2 fusion protein. {ECO:0000269|Ref.3}.; DISEASE: Arboleda-Tham syndrome (ARTHS) [MIM:616268]: An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. {ECO:0000269|PubMed:25728775, ECO:0000269|PubMed:25728777}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.48
uniprot
proteins
function
FUNCTION: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro) (PubMed:11742995, PubMed:11965546). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:11965546). May act as a transcriptional coactivator for RUNX1 and RUNX2 (PubMed:12771199). Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML (PubMed:23431171). May play a role in leukemogenic gene transcription (PubMed:39794553). {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171, ECO:0000269|PubMed:39794553}.
uniprot
proteins
mass_dalton
225028
uniprot
proteins
mutagenesis
MUTAGEN 543; /note="C->G: Abrogates HAT activity."; /evidence="ECO:0000269|PubMed:12676584"; MUTAGEN 545; /note="K->A: Reduced affinity for DNA."; /evidence="ECO:0000269|PubMed:17925393"; MUTAGEN 657; /note="G->E: Abrogates HAT activity."; /evidence="ECO:0000269|PubMed:12676584"; MUTAGEN 727; /note="I->E: Slightly reduced affinity for DNA."; /evidence="ECO:0000269|PubMed:17925393"; MUTAGEN 732; /note="H->D: Reduced affinity for DNA."; /evidence="ECO:0000269|PubMed:17925393
uniprot
proteins
post_translational_modification
PTM: Autoacetylated; autoacetylation at Lys-604 is required for proper function (Ref.27). Acetylation at Lys-1007 and Lys-1014 is required for the interaction with MLLT1/ENL and MLLT3/AF9 (PubMed:39794553). {ECO:0000269|PubMed:39794553, ECO:0000269|Ref.27}.; PTM: Crotonylated; crotonylation at Lys-1007 and Lys-1014 promotes the interaction with MLLT1/ENL and MLLT3/AF9. {ECO:0000269|PubMed:39794553}.; PTM: Phosphorylation at Thr-369 by PKB/AKT1 inhibits its interaction with PML and negatively regulates its acetylation activity towards p53/TP53. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:23431171}.
uniprot
proteins
protein_family
MYST (SAS/MOZ) family
uniprot
proteins
pubmed
10824998
uniprot
proteins
pubmed
11313971
uniprot
proteins
pubmed
11742995
uniprot
proteins
pubmed
11965546
uniprot
proteins
pubmed
12676584
uniprot
proteins
pubmed
12771199
uniprot
proteins
pubmed
15657427
uniprot
proteins
pubmed
16387653
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17925393
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18794358
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23431171
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25728775
uniprot
proteins
pubmed
25728777
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
39794553
uniprot
proteins
pubmed
8782817
uniprot
proteins
pubmed
9558366
uniprot
proteins
sequence_length
2004
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus, PML body. Note=Recruited into PML body after DNA damage.
uniprot
proteins