KAT6A lysine acetyltransferase 6A [Homo sapiens (human)] - Gene

Summary

Official Symbol: KAT6Aprovided by HGNC
Official Full Name: lysine acetyltransferase 6Aprovided by HGNC
Primary source: HGNC:HGNC:13013
See related: Ensembl:ENSG00000083168 MIM:601408; AllianceGenome:HGNC:13013
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOZ; ARTHS; MRD32; MYST3; MYST-3; ZNF220; RUNXBP2; ZC2HC6A
Summary: This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Expression: Ubiquitous expression in bone marrow (RPKM 10.9), ovary (RPKM 10.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.21

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (41929479..42051987, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (42203787..42326296, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (41786997..41909505, complement)

Chromosome 8 - NC_000008.11 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 Functions

What's a GeneRIF?

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Title: KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain.
Title: MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain.
The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain.
Title: The histone acetyltransferase KAT6A is recruited to unmethylated CpG islands via a DNA binding winged helix domain.
The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer.
Title: The Expression of Histone Acetyltransferase KAT6A in Non-small Cell Lung Cancer.
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
Title: Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.
Title: miR-339-3p inhibits cell growth and epithelial-mesenchymal transition in nasopharyngeal carcinoma by modulating the KAT6A/TRIM24 axis.
Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression.
Title: Matrix stiffness-induced upregulation of histone acetyltransferase KAT6A promotes hepatocellular carcinoma progression through regulating SOX2 expression.
KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.
Title: KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Title: Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
KAT6A Acetylation of SMAD3 Regulates Myeloid-Derived Suppressor Cell Recruitment, Metastasis, and Immunotherapy in Triple-Negative Breast Cancer.
Title: KAT6A Acetylation of SMAD3 Regulates Myeloid-Derived Suppressor Cell Recruitment, Metastasis, and Immunotherapy in Triple-Negative Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (51)

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
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MedGen: C4225396 OMIM: 616268 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-03-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-03-28) ClinGen Genome Curation PagePubMed

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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Replication interactions

Interaction	Pubs
Knockdown of K(lysine) acetyltransferase 6A (KAT6A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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

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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

Myst3 (e-PCR), detects polymorphism
- UniSTS:516610

G63180 (e-PCR)
- UniSTS:140297

RH16550 (e-PCR)
- UniSTS:11889

D7S3207 (e-PCR)
- UniSTS:229489

WI-15071 (e-PCR)
- UniSTS:83063

MYST3_3901 (e-PCR)
- UniSTS:463266

RH12816 (e-PCR)
- UniSTS:22212

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables acetyltransferase activity	TAS Traceable Author Statement more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3 acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3K14 acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H4K12 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 H4K5 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	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 coactivator activity	TAS Traceable Author Statement more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome organization	TAS Traceable Author Statement 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 nucleosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in protein acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of developmental process	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of signal transduction by p53 class mediator	TAS Traceable Author Statement more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of MOZ/MORF histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MOZ/MORF histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of MOZ/MORF histone acetyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: histone acetyltransferase KAT6A

Names: K(lysine) acetyltransferase 6A; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3; MYST histone acetyltransferase (monocytic leukemia) 3; histone acetyltransferase MYST3; monocytic leukemia zinc finger protein; runt-related transcription factor binding protein 2; zinc finger protein 220

NP_001292807.1

EC 2.3.1.48

NP_006757.2

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.

Genomic

NG_042093.1 RefSeqGene

Range

5040..127548

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001305878.2 → NP_001292807.1 histone acetyltransferase KAT6A isoform 2

See identical proteins and their annotated locations for NP_001292807.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks several exons in the 3' coding region and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in differences in the 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC090571, BC142959, BP271264

Consensus CDS

CCDS83290.1

UniProtKB/TrEMBL

A5PLL3

Related

ENSP00000430606.1, ENST00000485568.5

Conserved Domains (5) summary

smart00526
Location:85 → 162

H15; Domain in histone families 1 and 5

cd15527
Location:264 → 310

PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)

cd15618
Location:205 → 262

PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)

pfam01853
Location:565 → 743

MOZ_SAS; MOZ/SAS family

cl17182
Location:505 → 779

NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate
NM_006766.5 → NP_006757.2 histone acetyltransferase KAT6A isoform 1

See identical proteins and their annotated locations for NP_006757.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA310750, AC090571, AJ420560, BC142659, CB216817, DA442995, U47742

Consensus CDS

CCDS6124.1

UniProtKB/Swiss-Prot

Q92794

UniProtKB/TrEMBL

A0A3F2YNX6

Related

ENSP00000265713.2, ENST00000265713.8

Conserved Domains (4) summary

smart00526
Location:85 → 162

H15; Domain in histone families 1 and 5

PLN00104
Location:504 → 778

PLN00104; MYST -like histone acetyltransferase; Provisional

cd15527
Location:264 → 310

PHD2_KAT6A_6B; PHD finger 2 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)

cd15618
Location:205 → 262

PHD1_MOZ_MORF; PHD finger 1 found in monocytic leukemia zinc-finger protein (MOZ) and its factor (MORF)

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

41929479..42051987 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

42203787..42326296 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001099412.1: Suppressed sequence

Description

NM_001099412.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
NM_001099413.1: Suppressed sequence

Description

NM_001099413.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.