Property Summary

NCBI Gene PubMed Count 37
PubMed Score 178.78
PubTator Score 73.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
psoriasis 1.500 3.5e-03
osteosarcoma 2.088 1.3e-05
medulloblastoma 1.800 1.2e-04
atypical teratoid / rhabdoid tumor 1.100 4.3e-04
glioblastoma 1.100 2.9e-04
medulloblastoma, large-cell 1.700 1.7e-06
primitive neuroectodermal tumor 1.300 9.5e-05
ovarian cancer -1.400 2.9e-07

Gene RIF (24)

PMID Text
26334766 Kat6 c.3147G>A splice site mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
26208904 Homozygous deletions of KAT6B and the loss of its mRNA occur in SCLC cell lines and primary tumors. KAT6B loss enhances cancer growth. Restoration induces tumor suppressor-like features involving a new type of histone H3 Lys23 acetyltransferase activity.
25840828 This study shown MYST4 to be the risk factor for attention deficit/hyperactivity disorder.
25424711 KAT6B sequence variants are being reported in the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome.
24698832 The relationship between MYO1C and KAT6B suggests that the two are interacting in chromatin remodelling for gene expression in human masseter muscle. This is the nuclear myosin1 (NM1) function of MYO1C.
24458743 Similar to those observed in other genetic disorders resulting from KAT6B mutations.
24444492 The study showed that markers rs11001178 (MYST4) showed weak associations.
24294372 KAT5 and KAT6B regulate prostate cancer cell growth through PI3K-AKT signaling.
24150941 MORF double PHD finger binds to Histone H3 in a manner that is enhanced by acetylation of the lysine residues K9 and K14
23436491 Our results confirm the implication of KAT6B mutations in typical SBBYS syndrome and emphasize the importance of genotype-phenotype correlations at the KAT6B locus.
23063713 These data suggest that the tandem of plant homeodomain 1/2 fingers play a role in MOZ and MORF histone acetyltransferase association with histon H3 regions enriched in acetylated marks.
22715153 Propose that haploinsufficiency or loss of a function mediated by the C-terminal domain causes the common features, whereas gain-of-function activities would explain the features unique to genitopatellar syndrome. Review.
22265017 we identified de novo mutations of KAT6B in five individuals with Genitopatellar syndrome.
22265014 By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B.
22077973 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
21880731 Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF).
21804188 Data show that H3 acetylation by Myst4 is important for neural, craniofacial, and skeletal morphogenesis, mainly through its ability to specifically regulating the MAPK signaling pathway.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18794358 These findings indicate that BRPF proteins play a key role in assembling and activating MOZ/MORF acetyltransferase complexes.
17460191 MORF4 has a role in cellular aging, and MRG15 associates with both histone deacetylases and histone acetyl transferase complexes [review]
17182677 Cellular acetyltransferase binds HIV-1 integrase both in vitro and in cells and acetylates three specific lysine's (K264, K266, K273) in the carboxy-terminus of integrase
16385451 Observational study of gene-disease association. (HuGE Navigator)
16096645 Cellular acetyltransferase binds HIV-1 integrase both in vitro and in cells and acetylates three specific lysine's (K264, K266, K273) in the carboxy-terminus of integrase
15271374 role in regulating interleukin-5 expression

AA Sequence

MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSVLKVTNKGLAS      1 - 70
YKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEEPNGSSLKNIEKYLRSQSDLT     71 - 140
STTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLDGKGAPQYPSAFPSSLPPVSLLPHEKDQPRA    141 - 210
DPIPICSFCLGTKESNREKKPEELLSCADCGSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGR    211 - 280
NADNMLFCDSCDRGFHMECCDPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLK    281 - 350
QRLLSVTSDEGSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI    351 - 420
SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLATGTTQKLKPP    421 - 490
PSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQLKALFDGLSHIYTTQGQSRKK    491 - 560
GHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISHSSSSSWGMARGSIFKAIAHFKRTTFLKKHR    561 - 630
MLGRLKYKVTPQMGTPSPGKGSLTDGRIKPDQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQ    631 - 700
ELSWEKIECESGVEDCGRYPSVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKK    701 - 770
CGWFHPPANEIYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV    771 - 840
GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRLSYLAYWKSVI    841 - 910
LEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRREKLILSHMEKLKTCSRANEL    911 - 980
DPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEKEEQEILSTRANSRQSPAKVQSKNKYLHSPE    981 - 1050
SRPVTGERGQLLELSKESSEEEEEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVA   1051 - 1120
IKRKRPFVLKKKRGRKRRRINSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLR   1121 - 1190
KAFQHQPGKKRQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR   1191 - 1260
QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLPQEENRREETC   1261 - 1330
APVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEKDPDGAKSQEKEEPEISTEKE   1331 - 1400
DSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVEKEELPRESFKEVLENQETFLDLNVQPGHSN   1401 - 1470
PEVLMDCGVDLTASCNSEPKELAGDPEAVPESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSE   1471 - 1540
TVQAVQSLTQESSEQDDTFQDCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQS   1541 - 1610
VRSVNSPSVPALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY   1611 - 1680
ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSISSPPTCSVKS   1681 - 1750
PQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQSDFGAGHYPQPSATFSLAKL   1751 - 1820
QQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQLSQSPHSVPGGPQAQATMTPPPNLTPPPMN   1821 - 1890
LPPPLLQRNMAASNIGISHSQRLQTQIASKGHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLT   1891 - 1960
MQRGMNMSVNLMPAPAYNVNSVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGT   1961 - 2030
QPYAQQPMQTPPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR                              2031 - 2073
//

Text Mined References (41)

PMID Year Title
26334766 2015 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
26208904 2015 KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.
25840828 2015 Multiple epigenetic factors predict the attention deficit/hyperactivity disorder among the Chinese Han children.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.
24698832 2014 Molecular motor MYO1C, acetyltransferase KAT6B and osteogenetic transcription factor RUNX2 expression in human masseter muscle contributes to development of malocclusion.
24458743 2014 An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
24444492 2014 Identification of novel loci for bipolar I disorder in a multi-stage genome-wide association study.
24294372 2013 KAT5 and KAT6B are in positive regulation on cell proliferation of prostate cancer through PI3K-AKT signaling.
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.
23436491 2013 De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23063713 2012 Tandem PHD fingers of MORF/MOZ acetyltransferases display selectivity for acetylated histone H3 and are required for the association with chromatin.
22747683 2012 Genetic variants associated with breast size also influence breast cancer risk.
22715153 2012 The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
22265017 2012 De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
22265014 2012 Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
21880731 2011 Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF).
21804188 2011 Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18794358 2008 Molecular architecture of quartet MOZ/MORF histone acetyltransferase complexes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17980037 2007 Investigation of MYST4 histone acetyltransferase and its involvement in mammalian gametogenesis.
17460191 2007 The role of the MORF/MRG family of genes in cell growth, differentiation, DNA repair, and thereby aging.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16387653 2006 ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15271374 2004 Human interleukin-5 expression is synergistically regulated by histone acetyltransferase CBP/p300 and transcription factors C/EBP, NF-AT and AP-1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11965546 2002 MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2.
11157802 2001 Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13).
10497217 1999 Identification of a human histone acetyltransferase related to monocytic leukemia zinc finger protein.
9205841 1997 Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.