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KAT8 lysine acetyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 84148, updated on 5-Jan-2022

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
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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See KAT8 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31117664..31131393)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31128985..31142714)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene vitamin K epoxide reductase complex subunit 1 Neighboring gene branched chain keto acid dehydrogenase kinase Neighboring gene serine protease 8 Neighboring gene serine protease 36

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,
  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 (99) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
    Title: Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
  2. TGFbeta promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
    Title: TGFβ promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
  3. The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
    Title: The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
  4. 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.
  5. 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.
  6. Substrate Scope for Human Histone Lysine Acetyltransferase KAT8.
    Title: Substrate Scope for Human Histone Lysine Acetyltransferase KAT8.
  7. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
    Title: Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
  8. Histone Acetyltransferase MOF Orchestrates Outcomes at the Crossroad of Oncogenesis, DNA Damage Response, Proliferation, and Stem Cell Development.
    Title: Histone Acetyltransferase MOF Orchestrates Outcomes at the Crossroad of Oncogenesis, DNA Damage Response, Proliferation, and Stem Cell Development.
  9. Human MOF was highly expressed in endometrial carcinoma and associated with proliferation. High expression of human MOF was associated with late-stage cancer, lymph node metastasis and short survival time, and it was also an independent prognostic risk factor for endometrial carcinoma.
    Title: Estrogen/estrogen receptor promotes the proliferation of endometrial carcinoma cells by enhancing hMOF expression.
  10. KAT8 is down-regulating virus-induced IFN-I production by acetylating the transcription factor IRF3 at lysine 359, inhibiting the recruitment of IRF3 to IFN-I promoters, and decreasing its transcriptional activity.
    Title: KAT8 selectively inhibits antiviral immunity by acetylating IRF3.
Submit: New GeneRIF Correction See all GeneRIFs (56)

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
not available

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 H3 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables H4 histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 acetyltransferase activity (H4-K16 specific) IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables histone acetyltransferase activity (H4-K16 specific) IC
Inferred by Curator
more info
 PubMed 
enables histone acetyltransferase activity (H4-K16 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone acetyltransferase activity (H4-K5 specific) IC
Inferred by Curator
more info
 PubMed 
enables histone acetyltransferase activity (H4-K5 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone acetyltransferase activity (H4-K8 specific) IC
Inferred by Curator
more info
 PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylated histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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
 PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in histone H3 acetylation IEA
Inferred from Electronic Annotation
more info
  
involved_in histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in histone H4-K16 acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in histone H4-K5 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in histone acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in myeloid cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of histone H3-K4 methylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of autophagy IDA
Inferred from Direct Assay
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
 PubMed 
part_of MSL complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of NSL complex 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 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
  
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

NCBI Reference Sequences (RefSeq)

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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
    Q9H7Z6
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545971.1 → 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

  2. XM_011545970.1 → 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
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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