• Gene id: 7994

Gene Summary

• Gene Symbol: KAT6A   Gene   UCSC   Ensembl
• Aliases: ARTHS, MOZ, MRD32, MYST-3, MYST3, RUNXBP2, ZC2HC6A, ZNF220
• Gene name: lysine acetyltransferase 6A
• Alternate names: histone acetyltransferase KAT6A, K(lysine) acetyltransferase 6A, MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3, MYST histone acetyltransferase (monocytic leukemia) 3, histone acetyltransferase MYST3, monocytic leukemia zinc finger protein, runt-related transcription,
• Gene location: 8p11.21 (42051987: 41929478)     Exons: 19     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase
• OMIM: 605235

Protein Summary

• Protein general information: Q92794  
  • Name: Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST 3) (Monocytic leukemia zinc finger protein) (Runt related transcription factor binding protein 2) (Zinc finger protein 220)
  • Length: 2004  
  • Mass: 225028
• Sequence:

  MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPD
  NPGRIALPKPRNHGKLDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLA
  IKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPE
  ELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRDQGKNADNMLFCDSCDRGFHMECCDPPLTRM
  PKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGPGRGRKRKITLSSQSA
  SSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS
  DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSS
  PYPQEYSRLPKLYLCEFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLF
  LDHKTLYYDVEPFLFYVLTQNDVKGCHLVGYFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQ
  AGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLTGICPQDITSTLHHLRMLDFRSDQFVIIRRE
  KLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELEISVGKSVSHENKEQD
  SYSVESEKKPEVMAPVSSTRLSKQVLPHDSLPANSQPSRRGRWGRKNRKTQERFGDKDSKLLLEETSSAPQEQYG
  ECGEKSEATQEQYTESEEQLVASEEQPSQDGKPDLPKRRLSEGVEPWRGQLKKSPEALKCRLTEGSERLPRRYSE
  GDRAVLRGFSESSEEEEEPESPRSSSPPILTKPTLKRKKPFLHRRRRVRKRKHHNSSVVTETISETTEVLDEPFE
  DSDSERPMPRLEPTFEIDEEEEEEDENELFPREYFRRLSSQDVLRCQSSSKRKSKDEEEDEESDDADDTPILKPV
  SLLRKRDVKNSPLEPDTSTPLKKKKGWPKGKSRKPIHWKKRPGRKPGFKLSREIMPVSTQACVIEPIVSIPKAGR
  KPKIQESEETVEPKEDMPLPEERKEEEEMQAEAEEAEEGEEEDAASSEVPAASPADSSNSPETETKEPEVEEEEE
  KPRVSEEQRQSEEEQQELEEPEPEEEEDAAAETAQNDDHDADDEDDGHLESTKKKELEEQPTREDVKEEPGVQES
  FLDANMQKSREKIKDKEETELDSEEEQPSHDTSVVSEQMAGSEDDHEEDSHTKEELIELKEEEEIPHSELDLETV
  QAVQSLTQEESSEHEGAYQDCEETLAACQTLQSYTQADEDPQMSMVEDCHASEHNSPISSVQSHPSQSVRSVSSP
  NVPALESGYTQISPEQGSLSAPSMQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENYENPSSYDSTMGG
  SICGNSSSQSSCSYGGLSSSSSLTQSSCVVTQQMASMGSSCSMMQQSSVQPAANCSIKSPQSCVVERPPSNQQQQ
  PPPPPPQQPQPPPPQPQPAPQPPPPQQQPQQQPQPQPQQPPPPPPPQQQPPLSQCSMNNSFTPAPMIMEIPESGS
  TGNISIYERIPGDFGAGSYSQPSATFSLAKLQQLTNTIMDPHAMPYSHSPAVTSYATSVSLSNTGLAQLAPSHPL
  AGTPQAQATMTPPPNLASTTMNLTSPLLQCNMSATNIGIPHTQRLQGQMPVKGHISIRSKSAPLPSAAAHQQQLY
  GRSPSAVAMQAGPRALAVQRGMNMGVNLMPTPAYNVNSMNMNTLNAMNSYRMTQPMMNSSYHSNPAYMNQTAQYP
  MQMQMGMMGSQAYTQQPMQPNPHGNMMYTGPSHHSYMNAAGVPKQSLNGPYMRR

• Structural information:
  • Protein Domains: (95..17-)
    (/note="H15-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837-)
    (504..77-)
    (/note="MYST-type-HAT)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01063"-)
  • Interpro: IPR016181  IPR002717  IPR005818  IPR031280  IPR036388   IPR036390  IPR040706  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51504 PS51726 PS01359 PS50016
  • PDB: 1M36 2LN0 2OZU 2RC4 3V43 4LJN 4LK9 4LKA 4LLB 5B75 5B76 5B77 5B78
  • PDBsum: 1M36 2LN0 2OZU 2RC4 3V43 4LJN 4LK9 4LKA 4LLB 5B75 5B76 5B77 5B78
  • STRING: ENSP00000380136
• Other Databases: GeneCards:  KAT6A  Malacards:  KAT6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0016573	histone acetylation	IDA	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0008134	transcription factor binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0030099	myeloid cell differentiation	IDA	biological process
GO:0016407	acetyltransferase activity	IDA	molecular function
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0004402	histone acetyltransferase activity	IBA	molecular function
GO:0070776	MOZ/MORF histone acetyltransferase complex	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043966	histone H3 acetylation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000123	histone acetyltransferase complex	IBA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0006334	nucleosome assembly	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0048513	animal organ development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0043966	histone H3 acetylation	IEA	biological process
GO:0070776	MOZ/MORF histone acetyltransferase complex	IEA	cellular component
GO:0006323	DNA packaging	TAS	biological process
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0016407	acetyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006473	protein acetylation	IDA	biological process
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0070776	MOZ/MORF histone acetyltransferase complex	IDA	cellular component
GO:0070776	MOZ/MORF histone acetyltransferase complex	IDA	cellular component
GO:0016605	PML body	IDA	cellular component
GO:0016573	histone acetylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0090398	cellular senescence	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
acute myeloid leukemia	PMID:12676584
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq