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    KAT8 lysine acetyltransferase 8 [ Homo sapiens (human) ]

    Gene ID: 84148, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KAT8provided by HGNC
    Official Full Name
    lysine acetyltransferase 8provided by HGNC
    Primary source
    HGNC:HGNC:17933
    See related
    Ensembl:ENSG00000103510 MIM:609912; AllianceGenome:HGNC:17933
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOF; hMOF; MYST1; LIGOWS; ZC2HC8
    Summary
    This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 17.1), testis (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KAT8 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31117664..31131393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31505140..31518874)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31128985..31142714)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10745 Neighboring gene zinc finger protein ENSP00000375192-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10748 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31117007-31117823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31119431-31120324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31120325-31121217 Neighboring gene branched chain keto acid dehydrogenase kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31128803-31129029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10749 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31140425-31141372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31141373-31142320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31143269-31144214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31145163-31146109 Neighboring gene serine protease 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31149797-31150490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31150491-31151183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31151465-31152000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31152001-31152534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10750 Neighboring gene serine protease 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31160021-31160558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31160559-31161094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31161095-31161631

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF. Neal KC, et al. Biochim Biophys Acta, 2000 Jan 31. PMID 10786633
    2. Structural and Functional Role of Acetyltransferase hMOF K274 Autoacetylation. McCullough CE, et al. J Biol Chem, 2016 Aug 26. PMID 27382063, Free PMC Article
    3. Revealing the protein propionylation activity of the histone acetyltransferase MOF (males absent on the first). Han Z, et al. J Biol Chem, 2018 Mar 2. PMID 29321206, Free PMC Article
    4. KAT8 Regulates Androgen Signaling in Prostate Cancer Cells. Kim JY, et al. Mol Endocrinol, 2016 Aug. PMID 27268279, Free PMC Article
    5. The Histone Acetyltransferase MOF Promotes Induces Generation of Pluripotent Stem Cells. Mu X, et al. Cell Reprogram, 2015 Aug. PMID 26091365

    See all (118) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KAT8/SIRT7-mediated Fascin-K41 acetylation/deacetylation regulates tumor metastasis in esophageal squamous cell carcinoma.
      Title: KAT8/SIRT7-mediated Fascin-K41 acetylation/deacetylation regulates tumor metastasis in esophageal squamous cell carcinoma.
    2. Hotspot Cancer Mutation Impairs KAT8-mediated Nucleosomal Histone Acetylation.
      Title: Hotspot Cancer Mutation Impairs KAT8-mediated Nucleosomal Histone Acetylation.
    3. MOF-mediated acetylation of SIRT6 disrupts SIRT6-FOXA2 interaction and represses SIRT6 tumor-suppressive function by upregulating ZEB2 in NSCLC.
      Title: MOF-mediated acetylation of SIRT6 disrupts SIRT6-FOXA2 interaction and represses SIRT6 tumor-suppressive function by upregulating ZEB2 in NSCLC.
    4. Ropivacaine represses the proliferation, invasion, and migration of glioblastoma via modulating the microRNA-21-5p/KAT8 regulatory NSL complex subunit 2 axis.
      Title: Ropivacaine represses the proliferation, invasion, and migration of glioblastoma via modulating the microRNA-21-5p/KAT8 regulatory NSL complex subunit 2 axis.
    5. Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
      Title: Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
    6. TGFbeta promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
      Title: TGFβ promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
    7. The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
      Title: The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
    8. MOF upregulates the estrogen receptor alpha signaling pathway by its acetylase activity in hepatocellular carcinoma.
      Title: MOF upregulates the estrogen receptor α signaling pathway by its acetylase activity in hepatocellular carcinoma.
    9. Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcription and cellular homeostasis.
      Title: Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcription and cellular homeostasis.
    10. Substrate Scope for Human Histone Lysine Acetyltransferase KAT8.
      Title: Substrate Scope for Human Histone Lysine Acetyltransferase KAT8.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Li-Ghorbani-Weisz-Hubshman syndrome
    MedGen: C5436525 OMIM: 618974 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AK5 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AK9 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BK12 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BK5 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K122 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K14 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K18 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K23 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K27 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K36 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K4 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K56 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K9 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4K12 acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to histone H4K16 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4K16 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4K16 propionyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to histone H4K5 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4K5 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to histone H4K8 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H4K8 acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide-lysine-N-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptide-lysine-N-acetyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein propionyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dosage compensation by inactivation of X chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neurogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of skeletal muscle satellite cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription initiation by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in post-embryonic hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MSL complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MSL complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NSL complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NSL complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    histone acetyltransferase KAT8
    Names
    K(lysine) acetyltransferase 8
    MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1
    MYST histone acetyltransferase 1
    MYST-1
    histone acetyltransferase MYST1
    males-absent on the first protein homolog
    ortholog of Drosophila males absent on the first (MOF)
    probable histone acetyltransferase MYST1
    protein acetyltransferase KAT8
    protein propionyltransferase KAT8
    NP_115564.2
    NP_892003.2
    XP_011544272.1
    XP_011544273.1
    XP_047290714.1
    XP_054170115.1
    XP_054170116.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_032188.3 → NP_115564.2  histone acetyltransferase KAT8 isoform 1

      See identical proteins and their annotated locations for NP_115564.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AA682878, AK291106, BP342476, CD364543
      Consensus CDS
      CCDS10706.1
      UniProtKB/Swiss-Prot
      A8K4Z1, G5E9P2, Q659G0, Q7LC17, Q8IY59, Q8WYB4, Q8WZ14, Q9H7Z6, Q9HAC5, Q9NR35
      Related
      ENSP00000219797.3, ENST00000219797.9
      Conserved Domains (1) summary
      PLN00104
      Location:15 → 449
      PLN00104; MYST -like histone acetyltransferase; Provisional

    2. NM_182958.4 → NP_892003.2  histone acetyltransferase KAT8 isoform 2

      See identical proteins and their annotated locations for NP_892003.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate segment, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a distinct and longer C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009088, AC135050
      Consensus CDS
      CCDS45468.1
      UniProtKB/Swiss-Prot
      Q9H7Z6
      Related
      ENSP00000406037.2, ENST00000448516.6
      Conserved Domains (3) summary
      PLN00104
      Location:15 → 429
      PLN00104; MYST -like histone acetyltransferase; Provisional
      pfam11717
      Location:55 → 111
      Tudor-knot; RNA binding activity-knot of a chromodomain
      cl17182
      Location:160 → 427
      NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31117664..31131393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434758.1 → XP_047290714.1  histone acetyltransferase KAT8 isoform X1

    2. XM_011545971.2 → XP_011544273.1  histone acetyltransferase KAT8 isoform X1

      See identical proteins and their annotated locations for XP_011544273.1

      Conserved Domains (1) summary
      PLN00104
      Location:6 → 291
      PLN00104; MYST -like histone acetyltransferase; Provisional

    3. XM_011545970.2 → XP_011544272.1  histone acetyltransferase KAT8 isoform X1

      See identical proteins and their annotated locations for XP_011544272.1

      Conserved Domains (1) summary
      PLN00104
      Location:6 → 291
      PLN00104; MYST -like histone acetyltransferase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31505140..31518874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314140.1 → XP_054170115.1  histone acetyltransferase KAT8 isoform X1

    2. XM_054314141.1 → XP_054170116.1  histone acetyltransferase KAT8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7Z6.2 GenPept UniProtKB/Swiss-Prot:Q9H7Z6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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