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    KAT5 lysine acetyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 10524, updated on 22-Apr-2017
    Official Symbol
    KAT5provided by HGNC
    Official Full Name
    lysine acetyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:5275
    See related
    Ensembl:ENSG00000172977 MIM:601409; Vega:OTTHUMG00000166617
    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
    TIP; ESA1; PLIP; TIP60; cPLA2; HTATIP; ZC2HC5; HTATIP1
    Summary
    The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (65711996..65719606)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65479473..65487077)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369347 Neighboring gene RNA, 7SL, cytoplasmic 309, pseudogene Neighboring gene ribonuclease H2 subunit C Neighboring gene keratin 8 pseudogene 26 Neighboring gene adaptor related protein complex 5 beta 1 subunit

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog
    New loci associated with kidney function and chronic kidney disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Reduced levels of Tip60 by HIV-1 Tat is sufficient to restore the effectiveness of antiviral drug maribivar to inhibit beta-herpes virus human cytomegalovirus PubMed
    tat HIV-1 Tat forms a quaternary complex with Tip60, Plk1, and cyclin B1 to inhibit Plk1-mediated phosphorylation of cyclin B1 at Ser133 position PubMed
    tat HIV-1 Tat induces the polyubiquitination and degradation of Tip60 through p300/CBP-associated E4-type ubiquitin-ligase activity, which results in a dramatic impairment of the Tip60-dependent apoptotic cell response to DNA damage PubMed
    tat Tip60 inhibits HIV-1 Tat activation of the HIV-1 LTR promoter in Jurkat cells PubMed
    tat Tip60 enhances HIV-1 Tat activation of the HIV-1 LTR promoter in HeLa cells PubMed
    tat HIV-1 Tat inhibits Tip60 histone-acetyltransferase activity and abolishes Tip60-dependent transcriptional activity of the Mn-SOD promoter PubMed
    tat Tip60 is a nuclear histone acetyltransferase that binds to the N-terminal 31 amino acids of HIV-1 Tat PubMed
    matrix gag HIV-1 MA downregulates KAT5 gene expression in HepG2 cells PubMed

    Go to the HIV-1, Human Interaction Database

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      ATF-2 transcription factor network, organism-specific biosystem
      ATF-2 transcription factor network
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      ATM Signaling Network in Development and Disease, organism-specific biosystemThis pathway is modeled after Figure 4 in the article "The ATM signaling network in development and disease" (See Bibliography). When DNA is damaged, DDR begins to work on recuperating the damage th...
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
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    • C-MYC pathway, organism-specific biosystem (from Pathway Interaction Database)
      C-MYC pathway, organism-specific biosystem
      C-MYC pathway
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      Cell Cycle, organism-specific biosystem
      Cell Cycle
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    • 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...
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      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
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      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
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      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • 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...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
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    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetyltransferase activity TAS
    Traceable Author Statement
    more info
     
    androgen receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA double-strand break processing TAS
    Traceable Author Statement
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    androgen receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    cellular response to estradiol stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    histone acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of interleukin-2 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    strand displacement TAS
    Traceable Author Statement
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Piccolo NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Swr1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    histone acetyltransferase KAT5
    Names
    60 kDa Tat-interactive protein
    HIV-1 Tat interactive protein, 60kDa
    K(lysine) acetyltransferase 5
    K-acetyltransferase 5
    Tat interacting protein, 60kDa
    cPLA(2)-interacting protein
    cPLA2 interacting protein
    histone acetyltransferase HTATIP
    NP_001193762.1
    NP_006379.2
    NP_874368.1
    NP_874369.1

    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_033057.1 RefSeqGene

      Range
      5001..12605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206833.1NP_001193762.1  histone acetyltransferase KAT5 isoform 4

      See identical proteins and their annotated locations for NP_001193762.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK304664, BC013211, BU737532, DB003934, DB103287
      Consensus CDS
      CCDS55771.1
      UniProtKB/Swiss-Prot
      Q92993
      Related
      ENSP00000434765.1, OTTHUMP00000233848, ENST00000530446.5, OTTHUMT00000390911
      Conserved Domains (3) summary
      COG5027
      Location:39481
      SAS2; Histone acetyltransferase (MYST family) [Chromatin structure and dynamics]
      pfam11717
      Location:4098
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:200485
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    2. NM_006388.3NP_006379.2  histone acetyltransferase KAT5 isoform 2

      See identical proteins and their annotated locations for NP_006379.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as alpha, lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC064912, BU737532, DA043042, DB003934
      Consensus CDS
      CCDS31610.1
      UniProtKB/Swiss-Prot
      Q92993
      UniProtKB/TrEMBL
      A0A024R597
      Related
      ENSP00000366245.3, OTTHUMP00000233811, ENST00000377046.7, OTTHUMT00000390866
      Conserved Domains (3) summary
      pfam01853
      Location:288471
      MOZ_SAS; MOZ/SAS family
      pfam11717
      Location:765
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:219504
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    3. NM_182709.2NP_874368.1  histone acetyltransferase KAT5 isoform 3

      See identical proteins and their annotated locations for NP_874368.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as beta, lacks two alternate in-frame segments, compared to variant 1, resulting in a shorter protein (isoform 3), that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC000166, BU737532, DB003934
      Consensus CDS
      CCDS8109.1
      UniProtKB/Swiss-Prot
      Q92993
      UniProtKB/TrEMBL
      A0A024R5E8
      Related
      ENSP00000344955.4, OTTHUMP00000233813, ENST00000352980.8, OTTHUMT00000390868
      Conserved Domains (3) summary
      COG5027
      Location:3448
      SAS2; Histone acetyltransferase (MYST family) [Chromatin structure and dynamics]
      pfam11717
      Location:765
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:167452
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
    4. NM_182710.2NP_874369.1  histone acetyltransferase KAT5 isoform 1

      See identical proteins and their annotated locations for NP_874369.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      BC013211, BU737532, DB003934, DB103287
      Consensus CDS
      CCDS8110.1
      UniProtKB/Swiss-Prot
      Q92993
      Related
      ENSP00000340330.4, OTTHUMP00000233812, ENST00000341318.8, OTTHUMT00000390867
      Conserved Domains (3) summary
      COG5027
      Location:39533
      SAS2; Histone acetyltransferase (MYST family) [Chromatin structure and dynamics]
      pfam11717
      Location:4098
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:252537
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      65711996..65719606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718421.2XP_006718484.1  histone acetyltransferase KAT5 isoform X1

      See identical proteins and their annotated locations for XP_006718484.1

      Conserved Domains (3) summary
      pfam01853
      Location:297480
      MOZ_SAS; MOZ/SAS family
      pfam11717
      Location:765
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:228513
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

    RNA

    1. XR_001747726.1 RNA Sequence

    2. XR_001747727.1 RNA Sequence

    3. XR_001747728.1 RNA Sequence

      Related
      ENST00000534650.5, OTTHUMT00000390918

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      65363389..65370993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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