AADAT - aminoadipate aminotransferase Gene

中文名称：氨基己二酸转氨酶

种属: Homo sapiens

同用名: KAT2; KATII; KYAT2

基因 ID: 51166 | 基因类型: protein coding

关于 AADAT

Cytogenetic location: 4q33 Genomic coordinates (GRCh38): 4:170,060,222-170,094,292 (from NCBI)

This gene has 8 transcripts (splice variants), 230 orthologues and 7 paralogues. Broad expression in liver (RPKM 11.4), prostate (RPKM 6.3) and 19 other tissues.

功能概要

该基因编码的蛋白质与小鼠和大鼠犬尿氨酸氨基转移酶 II 高度相似。大鼠蛋白质是具有两种转氨酶活性的同型二聚体。一项活动是 α-氨基己二酸的转氨作用，这是 saccaropine 途径的最后一步，该途径是 L-赖氨酸分解代谢的主要途径。另一种活性涉及犬尿氨酸的转氨作用以产生犬尿氨酸，犬尿酸是具有神经保护特性的犬尿酸的前体。已发现该基因编码两种不同亚型的几种转录变体。[RefSeq 提供，2013 年 11 月]

This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

AADAT 基因产物(4)

mRNA	Protein	Name
NM_001286682.2	NP_001273611.1	kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform a
NM_001286683.1	NP_001273612.1	kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b
NM_016228.4	NP_057312.1	kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b
NM_182662.2	NP_872603.1	kynurenine/alpha-aminoadipate aminotransferase, mitochondrial isoform b

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 2-aminoadipate transaminase activity	IDA IDA: 通过直接分析推断	18620547	GOA
enables glycine:2-oxoglutarate aminotransferase activity	IDA IDA: 通过直接分析推断	18620547	GOA
enables kynurenine-glyoxylate transaminase activity	IDA IDA: 通过直接分析推断	18620547	GOA
enables kynurenine-oxoglutarate transaminase activity	IDA IDA: 通过直接分析推断	18620547	GOA
enables methionine-glyoxylate transaminase activity	IDA IDA: 通过直接分析推断	18620547	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	18620547	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in 2-oxoglutarate metabolic process	IDA IDA: 通过直接分析推断	18620547	GOA
involved in glutamate metabolic process	IDA IDA: 通过直接分析推断	18620547	GOA
involved in kynurenine metabolic process	IDA IDA: 通过直接分析推断	18620547	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AADAT 蛋白结构

Aminotran_1_2

0
100
200
300
400
425 a.a.

蛋白主名

其他名称

kynurenine/alpha-aminoadipate aminotransferase, mitochondrial

2-aminoadipate aminotransferase

关联疾病

疾病名称

别名

Hydroxykynureninuria

Xanthurenic Aciduria	Kynureninase Deficiency
Kynureninase Deficiency, Partial	HYXKY
Partial Kynureninase Deficiency

Detrusor Sphincter Dyssynergia

Detrusor And Sphincter Dyssynergia

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

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

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-RS00018	AADAT Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	AADAT	RGD	RGD:2948
Mus musculus	AADAT	MGD	MGI:1345167
Canis familiaris	AADAT	VGNC	VGNC:37407
Bos taurus	AADAT	VGNC	VGNC:25440
Felis catus	AADAT	VGNC	VGNC:59449
Macaca mulatta	AADAT	VGNC	VGNC:69454

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