KAT6A - lysine acetyltransferase 6A Gene

中文名称：赖氨酸乙酰转移酶 6A

种属: Homo sapiens

同用名: MOZ; ARTHS; MRD32; MYST3; MYST-3; ZNF220; RUNXBP2; ZC2HC6A

基因 ID: 7994 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 MOZ、YBFR2、SAS2、TIP60 组蛋白乙酰转移酶家族的成员。该蛋白质由一个核定位结构域、一个与乙酰化组蛋白尾部结合的双 C2H2 锌指结构域、一个组蛋白乙酰转移酶结构域、一个富含谷氨酸/天冬氨酸的区域以及一个富含丝氨酸和甲硫氨酸的反式激活结构域组成。它是乙酰化组蛋白 3 中赖氨酸 9 残基的复合物的一部分，此外，它还充当多种转录因子的共激活剂。该基因的等位基因变异与常染色体显性遗传形式的认知障碍有关。该基因的染色体易位与急性髓性白血病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 7 月]

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 基因产物(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

KAT6A 蛋白结构

PHD

MOZ_SAS

0
400
800
1200
1600
2004 a.a.

蛋白主名

其他名称

histone acetyltransferase KAT6A

K(lysine) acetyltransferase 6A

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-132283	PF-9363	Inhibitor	99.64%	否
HY-102058	WM-1119	Inhibitor	99.57%	否
HY-153444	KAT6-IN-1	Inhibitor	99.75%	否
HY-149470	MOZ-IN-3	Inhibitor	98.75%	否
HY-136473	CTX-0124143		98.84%	否
HY-162995	KAT6A-IN-2		/	否
HY-162997	KAT6-IN-3		/	否
HY-RS07081	KAT6A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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