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    KAT6A lysine acetyltransferase 6A [ Homo sapiens (human) ]

    Gene ID: 7994, updated on 17-Jun-2024

    Summary

    Official Symbol
    KAT6Aprovided by HGNC
    Official Full Name
    lysine acetyltransferase 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:13013
    See related
    Ensembl:ENSG00000083168 MIM:601408; AllianceGenome:HGNC:13013
    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
    MOZ; ARTHS; MRD32; MYST3; MYST-3; ZNF220; RUNXBP2; ZC2HC6A
    Summary
    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 domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in bone marrow (RPKM 10.9), ovary (RPKM 10.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See KAT6A in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (41929479..42051987, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42203787..42326296, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (41786997..41909505, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ankyrin 1 Neighboring gene uncharacterized LOC105379392 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:41656213-41657412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41666802-41667754 Neighboring gene Sharpr-MPRA regulatory region 6451 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:41675890-41677089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41685500-41686057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41691339-41692069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41692070-41692799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41699113-41699614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41699615-41700114 Neighboring gene RNA, 7SL, cytoplasmic 149, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41734031-41734243 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41759247-41759433 Neighboring gene Sharpr-MPRA regulatory region 1046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27296 Neighboring gene small nucleolar RNA SNORD112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41909597-41910118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41910119-41910639 Neighboring gene Sharpr-MPRA regulatory region 9305 Neighboring gene KAT6A antisense RNA 1 Neighboring gene myosin light chain 9 pseudogene Neighboring gene ribosomal protein L17 pseudogene 30

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
    MedGen: C4225396 OMIM: 616268 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-03-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-03-28)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of K(lysine) acetyltransferase 6A (KAT6A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC167033

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of MOZ/MORF histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of MOZ/MORF histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MOZ/MORF histone acetyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    histone acetyltransferase KAT6A
    Names
    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 factor binding protein 2
    zinc finger protein 220
    NP_001292807.1
    NP_006757.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_042093.1 RefSeqGene

      Range
      5040..127548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305878.2NP_001292807.1  histone acetyltransferase KAT6A isoform 2

      See identical proteins and their annotated locations for NP_001292807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in differences in the 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC090571, BC142959, BP271264
      Consensus CDS
      CCDS83290.1
      UniProtKB/TrEMBL
      A5PLL3
      Related
      ENSP00000430606.1, ENST00000485568.5
      Conserved Domains (5) summary
      smart00526
      Location:85162
      H15; Domain in histone families 1 and 5
      cd15527
      Location:264310
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:205262
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      pfam01853
      Location:565743
      MOZ_SAS; MOZ/SAS family
      cl17182
      Location:505779
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    2. NM_006766.5NP_006757.2  histone acetyltransferase KAT6A isoform 1

      See identical proteins and their annotated locations for NP_006757.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA310750, AC090571, AJ420560, BC142659, CB216817, DA442995, U47742
      Consensus CDS
      CCDS6124.1
      UniProtKB/Swiss-Prot
      Q92794
      UniProtKB/TrEMBL
      A0A3F2YNX6
      Related
      ENSP00000265713.2, ENST00000265713.8
      Conserved Domains (4) summary
      smart00526
      Location:85162
      H15; Domain in histone families 1 and 5
      PLN00104
      Location:504778
      PLN00104; MYST -like histone acetyltransferase; Provisional
      cd15527
      Location:264310
      PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)
      cd15618
      Location:205262
      PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      41929479..42051987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42203787..42326296 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001099412.1: Suppressed sequence

      Description
      NM_001099412.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    2. NM_001099413.1: Suppressed sequence

      Description
      NM_001099413.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.