Property Summary

NCBI Gene PubMed Count 44
Grant Count 30
R01 Count 14
Funding $2,255,456.42
PubMed Score 102.53
PubTator Score 62.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
psoriasis -1.300 0.001
astrocytoma 1.400 0.005
atypical teratoid / rhabdoid tumor 1.400 0.000
glioblastoma 1.300 0.002
group 4 medulloblastoma 1.700 0.000
medulloblastoma, large-cell 1.700 0.000
primary pancreatic ductal adenocarcinoma 1.373 0.013
tuberculosis -1.100 0.000
lung cancer -1.200 0.001
Breast cancer 2.900 0.048
ovarian cancer 2.000 0.000
pancreatic cancer 1.100 0.044

Gene RIF (29)

PMID Text
26667788 In this study we report the frequency of FGFR1 and KAT6A involvement in patients with hematological malignancies and 8p11 abnormalities.
25922517 findings establish that MOZ and BMI1 play opposing roles during the onset of Hox gene expression in the ES cell model and during body segment identity specification in vivo.
25728777 Heterozygous truncating mutations in KAT6A, as well as deletions of the same locus, cause a syndrome characterized by intellectual disability, craniosynostosis, cardiac defects, feeding difficulties, and distinct facial features.
25728775 We have identified KAT6A mutations as a frequent cause of syndromic developmental delay with microcephaly and dysmorphic features.
25220592 These data suggest that KAT6A may be a novel oncogene in breast cancers bearing the 8p11-p12 amplicon.
24258712 MOZ-TIF2/BRPF1 complex upregulates HOX genes mediated by MOZ-dependent histone acetylation, leading to the development of leukemia.
24150941 The double PHD finger domain of MOZ/MYST3 induces alpha-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification.
23994619 Symplekin interacts and co-localizes with both MOZ and MLL in immature hematopoietic cells. Its inhibition leads to a decrease of the HOXA9 protein level but not of Hoxa9 mRNA.
23431171 MOZ is an acetyltransferase of p53 at K120 and K382 and colocalizes with p53 in promyelocytic leukemia (PML) nuclear bodies following cellular stress.
23347099 Studies indicate the critical function of MOZ (MYST3 or KAT6A(1)) in haematopoiesis.
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AA Sequence

MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNS      1 - 70
YKDPDNPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAA     71 - 140
SGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDKPVAEPIPICS    141 - 210
FCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRDQGKNADNMLF    211 - 280
CDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSK    281 - 350
GPFSKVRTGPGRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPS    351 - 420
PDGRKARGEVVDYSEQYRIRKRGNRKSSTSDWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQE    421 - 490
QALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLCEFCLKYMKSRTILQQHMKKC    491 - 560
GWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVG    561 - 630
YFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVIL    631 - 700
ECLYHQNDKQISIKKLSKLTGICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVD    701 - 770
PECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELEISVGKSVSHENKEQDSYSVESEKKPEVMAP    771 - 840
VSSTRLSKQVLPHDSLPANSQPSRRGRWGRKNRKTQERFGDKDSKLLLEETSSAPQEQYGECGEKSEATQ    841 - 910
EQYTESEEQLVASEEQPSQDGKPDLPKRRLSEGVEPWRGQLKKSPEALKCRLTEGSERLPRRYSEGDRAV    911 - 980
LRGFSESSEEEEEPESPRSSSPPILTKPTLKRKKPFLHRRRRVRKRKHHNSSVVTETISETTEVLDEPFE    981 - 1050
DSDSERPMPRLEPTFEIDEEEEEEDENELFPREYFRRLSSQDVLRCQSSSKRKSKDEEEDEESDDADDTP   1051 - 1120
ILKPVSLLRKRDVKNSPLEPDTSTPLKKKKGWPKGKSRKPIHWKKRPGRKPGFKLSREIMPVSTQACVIE   1121 - 1190
PIVSIPKAGRKPKIQESEETVEPKEDMPLPEERKEEEEMQAEAEEAEEGEEEDAASSEVPAASPADSSNS   1191 - 1260
PETETKEPEVEEEEEKPRVSEEQRQSEEEQQELEEPEPEEEEDAAAETAQNDDHDADDEDDGHLESTKKK   1261 - 1330
ELEEQPTREDVKEEPGVQESFLDANMQKSREKIKDKEETELDSEEEQPSHDTSVVSEQMAGSEDDHEEDS   1331 - 1400
HTKEELIELKEEEEIPHSELDLETVQAVQSLTQEESSEHEGAYQDCEETLAACQTLQSYTQADEDPQMSM   1401 - 1470
VEDCHASEHNSPISSVQSHPSQSVRSVSSPNVPALESGYTQISPEQGSLSAPSMQNMETSPMMDVPSVSD   1471 - 1540
HSQQVVDSGFSDLGSIESTTENYENPSSYDSTMGGSICGNSSSQSSCSYGGLSSSSSLTQSSCVVTQQMA   1541 - 1610
SMGSSCSMMQQSSVQPAANCSIKSPQSCVVERPPSNQQQQPPPPPPQQPQPPPPQPQPAPQPPPPQQQPQ   1611 - 1680
QQPQPQPQQPPPPPPPQQQPPLSQCSMNNSFTPAPMIMEIPESGSTGNISIYERIPGDFGAGSYSQPSAT   1681 - 1750
FSLAKLQQLTNTIMDPHAMPYSHSPAVTSYATSVSLSNTGLAQLAPSHPLAGTPQAQATMTPPPNLASTT   1751 - 1820
MNLTSPLLQCNMSATNIGIPHTQRLQGQMPVKGHISIRSKSAPLPSAAAHQQQLYGRSPSAVAMQAGPRA   1821 - 1890
LAVQRGMNMGVNLMPTPAYNVNSMNMNTLNAMNSYRMTQPMMNSSYHSNPAYMNQTAQYPMQMQMGMMGS   1891 - 1960
QAYTQQPMQPNPHGNMMYTGPSHHSYMNAAGVPKQSLNGPYMRR                             1961 - 2004
//

Text Mined References (52)

PMID Year Title
27133397 2016 Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
26667788 2016 FGFR1 and KAT6A rearrangements in patients with hematological malignancies and chromosome 8p11 abnormalities: biological and clinical features.
25922517 2015 MOZ and BMI1 play opposing roles during Hox gene activation in ES cells and in body segment identity specification in vivo.
25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
25728775 2015 De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
25220592 2014 KAT6A, a chromatin modifier from the 8p11-p12 amplicon is a candidate oncogene in luminal breast cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24258712 2014 Bromodomain-PHD finger protein 1 is critical for leukemogenesis associated with MOZ-TIF2 fusion.
24150941 2014 The double PHD finger domain of MOZ/MYST3 induces ?-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification.
23994619 2013 Symplekin, a polyadenylation factor, prevents MOZ and MLL activity on HOXA9 in hematopoietic cells.
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