Format

Send to:

Choose Destination
    • Showing Current items.

    KAT6B lysine acetyltransferase 6B [ Homo sapiens (human) ]

    Gene ID: 23522, updated on 13-Jan-2019

    Summary

    Official Symbol
    KAT6Bprovided by HGNC
    Official Full Name
    lysine acetyltransferase 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:17582
    See related
    Ensembl:ENSG00000156650 MIM:605880
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf
    Summary
    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 transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 9.9), testis (RPKM 7.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See KAT6B in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (74824927..75032623)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (76584685..76792380)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1500 Neighboring gene family with sequence similarity 32 member C, pseudogene Neighboring gene uncharacterized LOC101929165 Neighboring gene small nucleolar RNA, C/D box 172 Neighboring gene dual specificity phosphatase and pro isomerase domain containing 1 Neighboring gene peptidylprolyl isomerase A pseudogene 13 Neighboring gene dual specificity phosphatase 13 Neighboring gene sterile alpha motif domain containing 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genitopatellar syndrome
    MedGen: C1853566 OMIM: 606170 GeneReviews: KAT6B-Related Disorders
    Compare labs
    Young Simpson syndrome
    MedGen: C1863557 OMIM: 603736 GeneReviews: KAT6B-Related Disorders
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2018-04-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2018-04-25)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol 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 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • HATs acetylate histones, organism-specific biosystem (from REACTOME)
      HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ90335, KIAA0383, DKFZp313G1618

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    H4 histone acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3 acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone H3 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H4 acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    histone acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    MOZ/MORF histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MOZ/MORF histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nuclear chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    histone acetyltransferase KAT6B
    Names
    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 acetyltransferase MYST4
    monocytic leukemia zinc finger protein-related factor
    NP_001243397.1
    NP_001243398.1
    NP_036462.2
    XP_005269721.1
    XP_016871489.1
    XP_016871491.1
    XP_016871492.1
    XP_016871493.1
    XP_016871494.1
    XP_016871495.1
    XP_016871497.1
    XP_016871498.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032048.1 RefSeqGene

      Range
      5001..211210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256468.1NP_001243397.1  histone acetyltransferase KAT6B isoform 2

      See identical proteins and their annotated locations for NP_001243397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF119230, AF217500, BC150618, DA488537
      Consensus CDS
      CCDS58085.1
      UniProtKB/Swiss-Prot
      Q8WYB5
      UniProtKB/TrEMBL
      B2RWN8
      Related
      ENSP00000361809.2, ENST00000372724.6
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15689
      Location:212270
      PHD1_MORF; PHD finger 1 found in monocytic leukemia zinc finger protein-related factor (MORF)
      pfam01853
      Location:593770
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:12521381
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:538807
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    2. NM_001256469.1NP_001243398.1  histone acetyltransferase KAT6B isoform 3

      See identical proteins and their annotated locations for NP_001243398.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF113514, AF217500, BC150618, DA488537
      Consensus CDS
      CCDS58084.1
      UniProtKB/Swiss-Prot
      Q8WYB5
      UniProtKB/TrEMBL
      B2RWN8
      Related
      ENSP00000497048.1, ENST00000648892.1
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:484661
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:11431272
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:429698
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
      cl22851
      Location:212270
      PHD_SF; PHD finger superfamily
    3. NM_012330.4NP_036462.2  histone acetyltransferase KAT6B isoform 1

      See identical proteins and their annotated locations for NP_036462.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC018511, AF217500, BC014143, BC150618, DA488537
      Consensus CDS
      CCDS7345.1
      UniProtKB/Swiss-Prot
      Q8WYB5
      UniProtKB/TrEMBL
      B2RWN8
      Related
      ENSP00000287239.4, ENST00000287239.9
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:212269
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:776953
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:14351564
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:721990
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      74824927..75032623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269664.2XP_005269721.1  histone acetyltransferase KAT6B isoform X1

      See identical proteins and their annotated locations for XP_005269721.1

      UniProtKB/Swiss-Prot
      Q8WYB5
      Related
      ENSP00000497841.1, ENST00000648725.1
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:212269
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:776953
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:14351564
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:721990
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    2. XM_017016003.1XP_016871492.1  histone acetyltransferase KAT6B isoform X1

      UniProtKB/Swiss-Prot
      Q8WYB5
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:212269
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:776953
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:14351564
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:721990
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    3. XM_017016008.2XP_016871497.1  histone acetyltransferase KAT6B isoform X4

      UniProtKB/Swiss-Prot
      Q8WYB5
      Related
      ENSP00000361810.1, ENST00000372725.6
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:484661
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:11431272
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:429698
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
      cl22851
      Location:212270
      PHD_SF; PHD finger superfamily
    4. XM_017016000.2XP_016871489.1  histone acetyltransferase KAT6B isoform X1

      UniProtKB/Swiss-Prot
      Q8WYB5
      Related
      ENSP00000497166.1, ENST00000649463.1
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:212269
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:776953
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:14351564
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:721990
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    5. XM_017016004.2XP_016871493.1  histone acetyltransferase KAT6B isoform X2

    6. XM_017016005.2XP_016871494.1  histone acetyltransferase KAT6B isoform X3

      UniProtKB/Swiss-Prot
      Q8WYB5
      Related
      ENSP00000361796.1, ENST00000372711.2
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15689
      Location:212270
      PHD1_MORF; PHD finger 1 found in monocytic leukemia zinc finger protein-related factor (MORF)
      pfam01853
      Location:593770
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:12521381
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:538807
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    7. XM_017016006.2XP_016871495.1  histone acetyltransferase KAT6B isoform X4

      UniProtKB/Swiss-Prot
      Q8WYB5
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:484661
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:11431272
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:429698
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
      cl22851
      Location:212270
      PHD_SF; PHD finger superfamily
    8. XM_017016009.1XP_016871498.1  histone acetyltransferase KAT6B isoform X5

    9. XM_017016002.1XP_016871491.1  histone acetyltransferase KAT6B isoform X1

      UniProtKB/Swiss-Prot
      Q8WYB5
      Conserved Domains (6) summary
      smart00526
      Location:113167
      H15; Domain in histone families 1 and 5
      cd15527
      Location:271317
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:212269
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:776953
      MOZ_SAS; MOZ/SAS family
      pfam05466
      Location:14351564
      BASP1; Brain acid soluble protein 1 (BASP1 protein)
      cl17182
      Location:721990
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

    Reference GRCh38.p12 PATCHES

    Genomic

    1. NW_009646202.1 Reference GRCh38.p12 PATCHES

      Range
      31089..237298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center