KAT6A - lysine acetyltransferase 6A Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7994

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	References	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	References	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	References	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

KAT6A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KAT6A	Q92794	Q03164-PRO_0000390950	Homo sapiens	Q03164-PRO_0000390950	Confocal	20581860
Intra	KAT6A	Q92794	Q03164-PRO_0000390950	Homo sapiens	Q03164-PRO_0000390950	Anti Bait CoIP	20581860
Intra	KAT6A	Q92794	Q03164-PRO_0000390950	Homo sapiens	Q03164-PRO_0000390950	Anti Tag CoIP	20581860
Intra	KAT6A	Q92794	WDR5	Homo sapiens	P61964	Anti Bait CoIP	20581860

Cross: Cross-species interaction Intra: Intraspecies interaction

KAT6A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86929	KAT6A Antibody (YA6622)	WB, ICC/IF, IHC-P, FC, ChIP	Human, Mouse, Rat
HY-P86929A	KAT6A Antibody (YA6622)(PBS only)	WB, ICC/IF, IHC-P, FC, ChIP	Human, Mouse, Rat

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-153444	Prifetrastat	Inhibitor	99.63%	Phase 3
HY-182468	OP-3136	Inhibitor	99.90%	Phase 1

Pre-clinical Phase

Bioactive Molecules (16)

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-159957	BAY-184	Inhibitor	99.00%	Unkown
HY-149470	MOZ-IN-3	Inhibitor	98.75%	Unkown
HY-177046	KAT6A/KAT7-IN-4	Inhibitor	98.86%	Unkown
HY-177045	KAT6A/KAT7-IN-3	Inhibitor	/	Unkown
HY-136473	CTX-0124143	Inhibitor	98.84%	Unkown
HY-RS07081	KAT6A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-162994	KAT6A-IN-1	Inhibitor	/	Unkown
HY-162995	KAT6A-IN-2	Inhibitor	/	Unkown
HY-162997	KAT6-IN-3	Inhibitor	/	Unkown
HY-177043	KAT6A/KAT7-IN-1	Inhibitor	/	Unkown
HY-177044	KAT6A/KAT7-IN-2	Inhibitor	/	Unkown
HY-183256	BAY-7728	Inhibitor	/	Unkown
HY-RS17080	Kat6a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23524	Kat6a Rat Pre-designed siRNA Set A	Pre-designed Set	/	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