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; 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

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_000016.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Hotspot Cancer Mutation Impairs KAT8-mediated Nucleosomal Histone Acetylation.
Title: Hotspot Cancer Mutation Impairs KAT8-mediated Nucleosomal Histone Acetylation.
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.
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.
Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
Title: Dysregulation of intercellular signaling by MOF deletion leads to liver injury.
TGFbeta promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
Title: TGFβ promotes fibrosis by MYST1-dependent epigenetic regulation of autophagy.
The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
Title: The histone acetyltransferase hMOF promotes vascular invasion in hepatocellular carcinoma.
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.
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.
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)

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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables histone H4 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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
enables histone H4K16 acetyltransferase 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 histone acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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 protein propionyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein-lysine-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-lysine-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein-lysine-acetyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in dosage compensation by inactivation of X chromosome	IEA Inferred from Electronic Annotation more info
involved_in epigenetic regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in hemopoiesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within membraneless organelle assembly	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 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 macromolecule biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of multicellular organismal process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type I interferon production	IEA Inferred from Electronic Annotation more info
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 neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle satellite cell differentiation	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in post-embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of autophagy	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
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 regulation of mitochondrial transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within skeletal muscle satellite cell differentiation	ISS Inferred from Sequence or Structural Similarity 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 MSL complex	IEA Inferred from Electronic Annotation more info
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 NSL complex	IEA Inferred from Electronic Annotation more info
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
is_active_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome	IEA Inferred from Electronic Annotation 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 mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nuclear lumen	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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

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

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

XP_047290714.1

EC 2.3.1.48

XP_054170115.1

EC 2.3.1.48

XP_054170116.1

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

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
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