Sign in to NCBI
Format

Send to:

Choose Destination

KAT8 lysine acetyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 84148, updated on 7-Jun-2020

Summary

Go to the top of the page Help
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; 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

Genomic context

Go to the top of the page Help
See KAT8 in Genome Data Viewer
Location:
16p11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31117664..31131393)
105 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Estrogen/estrogen receptor promotes the proliferation of endometrial carcinoma cells by enhancing hMOF expression. Qi Y, et al. Jpn J Clin Oncol, 2020 Mar 9. PMID 31990345, Free PMC Article
  2. 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
  3. Structural insights into the nuclear import of the histone acetyltransferase males-absent-on-the-first by importin α1. Zheng W, et al. Traffic, 2018 Jan. PMID 28991411
  4. Structural and Functional Role of Acetyltransferase hMOF K274 Autoacetylation. McCullough CE, et al. J Biol Chem, 2016 Aug 26. PMID 27382063, Free PMC Article
  5. KAT8 Regulates Androgen Signaling in Prostate Cancer Cells. Kim JY, et al. Mol Endocrinol, 2016 Aug. PMID 27268279, Free PMC Article

See all (82) 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. 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.
  2. 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.
  3. MOF promotes endometrial cancer cell growth and proliferation in vitro and in vivo. Clinical evidence indicates that expression MOF is decreased and positively correlated with that of ER-alpha in endometrial cancer tissues.
    Title: Histone acetyltransferase MOF is involved in suppression of endometrial cancer and maintenance of ERα stability.
  4. a novel function for the MYST KATs as lysine propionyltransferases
    Title: Revealing the protein propionylation activity of the histone acetyltransferase MOF (males absent on the first).
  5. Novel importin alpha1-specific nuclear localization signals were identified in the N-terminal of MOF.
    Title: Structural insights into the nuclear import of the histone acetyltransferase males-absent-on-the-first by importin α1.
  6. Data describe a trans-histone modification pathway involving PKN1/histone H3 threonine 11 phosphorylation followed by WDR5/MLL histone methyltransferase and KAT8/histone acetyltransferase recruitment to effect androgen-dependent gene activation and prostate cancer cell proliferation.
    Title: KAT8 Regulates Androgen Signaling in Prostate Cancer Cells.
  7. These findings provide insight into the regulation of LSD1 and Epithelial-to-Mesenchymal Transition (EMT) and identify MOF as a critical suppressor of EMT and tumor progression.
    Title: MOF Acetylates the Histone Demethylase LSD1 to Suppress Epithelial-to-Mesenchymal Transition.
  8. This work identifies MOF as a key regulator of cellular stress response in glomerular podocytes.
    Title: MOF maintains transcriptional programs regulating cellular stress response.
  9. recent results indicate MOF is an upstream regulator of the ATM (ataxia-telangiectasia mutated) protein, the loss of which is responsible for ataxia telangiectasia (AT). ATM is a key regulatory kinase that interacts with and phosphorylates multiple substrates that influence critical, cell-cycle control and DNA damage repair pathways in addition to other pathways.
    Title: A multifaceted role for MOF histone modifying factor in genome maintenance.
  10. Histone acetyltransferase activity of MOF is required to sustain MLL-AF9 leukemia and may be important for multiple AML subtypes.
    Title: Histone Acetyltransferase Activity of MOF Is Required for <i>MLL-AF9</i> Leukemogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ14040

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enzyme binding IEA
Inferred from Electronic Annotation
more info
  
histone acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K16 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K5 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K8 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
methylated histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
histone H4-K16 acetylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
histone H4-K5 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
histone acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
myeloid cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of autophagy IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
MSL complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
MSL complex IDA
Inferred from Direct Assay
more info
 PubMed 
histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
kinetochore IEA
Inferred from Electronic Annotation
more info
  
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleoplasm TAS
Traceable Author Statement
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

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 (3) summary
    PLN00104
    Location:15 → 449
    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

  2. NM_182958.3 → 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.

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
    cl27485
    Location:6 → 291
    MOZ_SAS; MOZ/SAS family

  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
    cl27485
    Location:6 → 291
    MOZ_SAS; MOZ/SAS family
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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center