• Gene id: 23522

Gene Summary

• Gene Symbol: KAT6B   Gene   UCSC   Ensembl
• Aliases: GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf
• Gene name: lysine acetyltransferase 6B
• Alternate names: histone acetyltransferase KAT6B, K(lysine) acetyltransferase 6B, MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4, MOZ-related factor, MYST histone acetyltransferase (monocytic leukemia) 4, MYST-4, histone acetyltransferase MORF, histone acetyltransferase MOZ2, histone a,
• Gene location: 10q22.2 (74824926: 75032623)     Exons: 20     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcripti
• OMIM: 607672

Protein Summary

• Protein general information: Q8WYB5  
  • Name: Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST 4) (Monocytic leukemia zinc finger protein related factor)
  • Length: 2073  
  • Mass: 231378
  • Tissue specificity: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO
• Sequence:

  MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSVLKVTNKGLASYKDPD
  NPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEEPNGSSLKNIEKYLRSQSDLTSTTNNPAFQQ
  RLRLGAKRAVNNGRLLKDGPQYRVNYGSLDGKGAPQYPSAFPSSLPPVSLLPHEKDQPRADPIPICSFCLGTKES
  NREKKPEELLSCADCGSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGRNADNMLFCDSCDRGFHMECC
  DPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLKQRLLSVTSDEGSMNAFTGRGSPGRG
  QKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYISASTLKVNKKTKGLIDGLTKFFTPSPDGRR
  SRGEIIDFSKHYRPRKKVSQKQSCTSHVLATGTTQKLKPPPSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQ
  CSVPSLSSLTTNSQLKALFDGLSHIYTTQGQSRKKGHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISH
  SSSSSWGMARGSIFKAIAHFKRTTFLKKHRMLGRLKYKVTPQMGTPSPGKGSLTDGRIKPDQDDDTEIKINIKQE
  SADVNVIGNKDVVTEEDLDVFKQAQELSWEKIECESGVEDCGRYPSVIEFGKYEIQTWYSSPYPQEYARLPKLYL
  CEFCLKYMKSKNILLRHSKKCGWFHPPANEIYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFL
  FYVLTKNDEKGCHLVGYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRL
  SYLAYWKSVILEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRREKLILSHMEKLKTCS
  RANELDPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEKEEQEILSTRANSRQSPAKVQSKNKYLHSPE
  SRPVTGERGQLLELSKESSEEEEEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVAIKRKR
  PFVLKKKRGRKRRRINSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLRKAFQHQPGKK
  RQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWRQNKERKTGFKLNLYT
  PPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLPQEENRREETCAPVSPNTSPGEKPEDDLIKP
  EEEEEEEEEEEEEEEEEEGEEEEGGGNVEKDPDGAKSQEKEEPEISTEKEDSARLDDHEEEEEEDEEPSHNEDHD
  ADDEDDSHMESAEVEKEELPRESFKEVLENQETFLDLNVQPGHSNPEVLMDCGVDLTASCNSEPKELAGDPEAVP
  ESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSETVQAVQSLTQESSEQDDTFQDCAETQEACRSLQNY
  TRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQSVRSVNSPSVPALENSYAQISPDQSAISVPSLQNMETSPMM
  DVPSVSDHSQQVVDSGFSDLGSIESTTENYENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQM
  SNISGSCSMLQQTSISSPPTCSVKSPQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQ
  SDFGAGHYPQPSATFSLAKLQQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQLSQSPHSVPGGPQAQ
  ATMTPPPNLTPPPMNLPPPLLQRNMAASNIGISHSQRLQTQIASKGHISMRTKSASLSPAAATHQSQIYGRSQTV
  AMQGPARTLTMQRGMNMSVNLMPAPAYNVNSVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQM
  GMMGTQPYAQQPMQTPPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR

• Structural information:
  • Protein Domains: (103..17-)
    (/note="H15-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00837-)
    (715..98-)
    (/note="MYST-type-HAT)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01063"-)
  • Interpro: IPR016181  IPR002717  IPR005818  IPR036388  IPR036390   IPR040706  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51504 PS51726 PS01359 PS50016
  • PDB: 5U2J 6OIE
  • PDBsum: 5U2J 6OIE
  • STRING: ENSP00000287239
• Other Databases: GeneCards:  KAT6B  Malacards:  KAT6B

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0070776	MOZ/MORF histone acetyltransferase complex	IDA	cellular component
GO:0070776	MOZ/MORF histone acetyltransferase complex	IDA	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:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0004402	histone acetyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0043966	histone H3 acetylation	IDA	biological process
GO:0016573	histone acetylation	IDA	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0004402	histone acetyltransferase activity	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:0016407	acetyltransferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006334	nucleosome assembly	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000786	nucleosome	NAS	cellular component

Diseases

Associated diseases	References
Blepharophimosis-mental retardation syndrome	KEGG:H01795
Young-Simpson syndrome	KEGG:H01793
Genitopatellar syndrome	KEGG:H01794
Blepharophimosis-mental retardation syndrome	KEGG:H01795
Young-Simpson syndrome	KEGG:H01793
Genitopatellar syndrome	KEGG:H01794
leiomyoma	PMID:15313893
Breast cancer	PMID:23800003
Bipolar disorder	PMID:24444492
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq