KAT6A - lysine acetyltransferase 6A Gene

Homo sapiens

Also known as MOZ; ARTHS; MRD32; MYST3; MYST-3; ZNF220; RUNXBP2; ZC2HC6A

Gene ID: 7994 | Gene type: protein coding

About KAT6A

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:41,929,479-42,051,987 (from NCBI)

This gene has 17 transcripts (splice variants), 230 orthologues, 9 paralogues and is associated with 99 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.9), ovary (RPKM 10.5) and 25 other tissues.

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]

KAT6A Products(2)

mRNA	Protein	Name
NM_001305878.2	NP_001292807.1	histone acetyltransferase KAT6A isoform 2
NM_006766.5	NP_006757.2	histone acetyltransferase KAT6A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	17925393	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	11742995	GOA
enables histone H3K14 acetyltransferase activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables histone H4K12 acetyltransferase activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables histone H4K16 acetyltransferase activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables histone H4K5 acetyltransferase activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables histone H4K8 acetyltransferase activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables histone acetyltransferase activity	IDA IDA: Inferred from direct assay	17925393	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11965546	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	11742995	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	17925393	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular senescence	IMP IMP: Inferred from mutant phenotype	23431171	GOA
involved in myeloid cell differentiation	IDA IDA: Inferred from direct assay	11742995	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11742995	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11742995	GOA
involved in protein acetylation	IDA IDA: Inferred from direct assay	23431171	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18794358	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MOZ/MORF histone acetyltransferase complex	IDA IDA: Inferred from direct assay	16387653	GOA
located in PML body	IDA IDA: Inferred from direct assay	23431171	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11742995	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KAT6A Protein Structure

PHD

MOZ_SAS

0
400
800
1200
1600
2004 a.a.

Protein Preferred Names

Protein Names

histone acetyltransferase KAT6A

K(lysine) acetyltransferase 6A

Related Diseases

Diseases

Alias

Arboleda-Tham Syndrome

Kat6a Syndrome	Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
ARTHS	Mrd32
Mental Retardation, Autosomal Dominant 32, Formerly	Mrd32, Formerly
Autosomal Dominant Mental Retardation 32	Autosomal Dominant Non-Syndromic Intellectual Disability 32
Arboleda-Tham

Syndromic Intellectual Disability

Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation

Aml With T(8	16)(P11
P13) Translocation

Monocytic Leukemia

Monocytic Leukaemia	Schilling'S Leukaemia
Schilling'S Leukemia	M5b Acute Differentiated Monocytic Leukemia

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Leukemia, Acute Monocytic

Acute Monocytic Leukemia	Acute Monoblastic Leukemia And Acute Monocytic Leukemia
Acute Monocytic Leukaemia	Acute Monocytic Leukaemia Without Mention Of Remission
Acute Monocytic Leukemia Without Mention Of Remission	Acute Monocytic Leukemia, Fab M5
Acute Monocytic Leukemia, Morphology	Leukemia, Monocytic, Acute
M5b Acute Differentiated Monocytic Leukemia

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Myeloid Leukemia

Myeloid Leukaemia	Leukaemia Myelogenous
Leukemia Myelogenous	Myeloid Granulocytic Leukaemia
Myeloid Granulocytic Leukemia	Non-Lymphocytic Leukemia
Leukemia, Myeloid	Granulocytic Leukaemia
Myelogenous Leukaemia	Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Neonatal Leukemia

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome	Broad Thumb-Hallux Syndrome
Chromosome 16p13.3 Deletion Syndrome	Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
Rubinstein Syndrome	Broad Thumbs-Halluces Syndrome
Rsts	Rubinstein-Taybi Deletion Syndrome
Rsts Deletion Syndrome	Proximal Chromosome 16p13.3 Deletion Syndrome
16p13.3 Deletion Syndrome	Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
Rts

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31	Autosomal Dominant Mental Retardation 31
Mrd31

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132283	PF-9363	Inhibitor	99.64%	Unkown
HY-102058	WM-1119	Inhibitor	99.57%	Unkown
HY-153444	KAT6-IN-1	Inhibitor	99.75%	Unkown
HY-149470	MOZ-IN-3	Inhibitor	98.75%	Unkown
HY-136473	CTX-0124143		98.84%	Unkown
HY-162994	KAT6A-IN-1	Inhibitor	/	Unkown
HY-162995	KAT6A-IN-2	Inhibitor	/	Unkown
HY-162997	KAT6-IN-3	Inhibitor	/	Unkown
HY-RS07081	KAT6A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KAT6A	VGNC	VGNC:73821
Rattus norvegicus	KAT6A	RGD	RGD:1304892
Bos taurus	KAT6A	VGNC	VGNC:30401
Mus musculus	KAT6A	MGD	MGI:2442415
Canis familiaris	KAT6A	VGNC	VGNC:42212
Felis catus	KAT6A	VGNC	VGNC:63024
Others	KAT6A	NCBI

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