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KAT8 lysine acetyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 84148, updated on 13-Apr-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
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Genomic context

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Location:
16p11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31117664..31131393)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31505140..31518874)
105.20220307 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. TGFβ promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy. Zehender A, et al. Nat Commun, 2021 Jul 20. PMID 34285225, Free PMC Article
  2. Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcription and cellular homeostasis. Radzisheuskaya A, et al. Mol Cell, 2021 Apr 15. PMID 33657400, Free PMC Article
  3. MOF upregulates the estrogen receptor α signaling pathway by its acetylase activity in hepatocellular carcinoma. Wei S, et al. Cancer Sci, 2021 May. PMID 33544437, Free PMC Article
  4. Substrate Scope for Human Histone Lysine Acetyltransferase KAT8. Proietti G, et al. Int J Mol Sci, 2021 Jan 15. PMID 33467728, Free PMC Article
  5. Dysregulation of intercellular signaling by MOF deletion leads to liver injury. Lei H, et al. J Biol Chem, 2021 Jan-Jun. PMID 33376138, Free PMC Article

See all (107) 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)

Genotypes

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 chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H4K16 acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 
contributes_to 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 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 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 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 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 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 transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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 IBA
Inferred from Biological aspect of Ancestor
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
ortholog of Drosophila males absent on the first (MOF)
probable histone acetyltransferase MYST1
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_2023_10

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

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