KAT8 lysine acetyltransferase 8 [Homo sapiens (human)] - Gene

Summary

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

Location:: 16p11.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	16	NC_000016.10 (31117664..31131393)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31128985..31142714)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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).
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.
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.
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.
This work identifies MOF as a key regulator of cellular stress response in glomerular podocytes.
Title: MOF maintains transcriptional programs regulating cellular stress response.
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.
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.
our findings reveal that TET1 forms a complex with hMOF to modulate its function and the level of H4K16Ac ultimately affect gene expression and DNA repair.
Title: TET1 modulates H4K16 acetylation by controlling auto-acetylation of hMOF to affect gene regulation and DNA repair function.
these studies point to the critical and specific role of hMOF Lys-274 autoacetylation in hMOF stability and cognate substrate acetylation and argues that binding of Ac-CoA to hMOF likely drives Lys-274 autoacetylation for subsequent cognate substrate acetylation.
Title: Structural and Functional Role of Acetyltransferase hMOF K274 Autoacetylation.
MOF is a dual-transcriptional regulator of nuclear and mitochondrial genomes connecting epigenetics and metabolism.
Title: MOF Acetyl Transferase Regulates Transcription and Respiration in Mitochondria.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

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 BioSystems

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Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
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...
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...
p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
p53 pathway, organism-specific biosystem
p53 pathway

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69053 (e-PCR)
- UniSTS:92934

RH98758 (e-PCR)
- UniSTS:85327

RH65237 (e-PCR)
- UniSTS:91003

D16S3336 (e-PCR)
- UniSTS:79004

RH68632 (e-PCR)
- UniSTS:89547

Homology

Homologs of the KAT8 gene: The KAT8 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 190 organisms have orthologs with human gene KAT8
Orthologs

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
histone acetyltransferase activity (H4-K16 specific)	IBA Inferred from Biological aspect of Ancestor 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

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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

EC 2.3.1.48

NP_892003.2

EC 2.3.1.48

XP_011544272.1

EC 2.3.1.48

XP_011544273.1

EC 2.3.1.48

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)

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, ENST00000219797.8

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
NM_182958.2 → 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)

AA682878, AK225660, BC037773, CD364543

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