2. Gene
  3. ABAT - 4-aminobutyrate aminotransferase Gene

ABAT - 4-aminobutyrate aminotransferase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：4-氨基丁酸氨基转移酶

种属: Homo sapiens

同用名: GABAT; NPD009; GABA-AT

基因 ID: 18 | 基因类型: protein coding

关于 ABAT

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:8,674,617-8,784,570 (from NCBI)

This gene has 16 transcripts (splice variants), 231 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 93.2), kidney (RPKM 61.6) and 11 other tissues.

功能概要

4-氨基丁酸转氨酶 (ABAT) 负责将 γ-氨基丁酸 (GABA) 分解代谢为琥珀半醛，这是中枢神经系统中一种重要的抑制性神经递质。活性酶是与 pyridoxal-5-phosphate 复合的 50-kD 亚基的同型二聚体。蛋白质序列与猪蛋白的相似度超过 95%。据估计，GABA 存在于近三分之一的人类突触中。肝脏和大脑中的 ABAT 由 2 个共显性等位基因控制，在高加索人群中频率为 0.56 和 0.44。 ABAT 缺陷表型包括精神运动迟缓、肌张力减退、反射亢进、嗜睡、顽固性癫痫发作和脑电图异常。已为该基因发现编码相同蛋白质同种型的多个可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active Enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

ABAT 基因产物(20)

mRNA Protein Name
NM_000663.5 NP_000654.2 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001127448.2 NP_001120920.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386600.1 NP_001373529.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386601.1 NP_001373530.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386602.1 NP_001373531.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386603.1 NP_001373532.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386604.1 NP_001373533.1 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
NM_001386605.1 NP_001373534.1 4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor
NM_001386606.1 NP_001373535.1 4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor
NM_001386607.1 NP_001373536.1 4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor
NM_001386608.1 NP_001373537.1 4-aminobutyrate aminotransferase, mitochondrial isoform 4 precursor
NM_001386609.1 NP_001373538.1 4-aminobutyrate aminotransferase, mitochondrial isoform 5 precursor
NM_001386610.1 NP_001373539.1 4-aminobutyrate aminotransferase, mitochondrial isoform 6 precursor
NM_001386611.1 NP_001373540.1 4-aminobutyrate aminotransferase, mitochondrial isoform 7
NM_001386612.1 NP_001373541.1 4-aminobutyrate aminotransferase, mitochondrial isoform 8
NM_001386613.1 NP_001373542.1 4-aminobutyrate aminotransferase, mitochondrial isoform 8
NM_001386614.1 NP_001373543.1 4-aminobutyrate aminotransferase, mitochondrial isoform 9 precursor
NM_001386615.1 NP_001373544.1 4-aminobutyrate aminotransferase, mitochondrial isoform 10 precursor
NM_001386616.1 NP_001373545.1 4-aminobutyrate aminotransferase, mitochondrial isoform 11 precursor
NM_020686.6 NP_065737.2 4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 4-aminobutyrate:2-oxoglutarate transaminase activity IDA
IDA: 通过直接分析推断
10407778 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15528998 GOA
enables pyridoxal phosphate binding IDA
IDA: 通过直接分析推断
15650327 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in gamma-aminobutyric acid metabolic process IDA
IDA: 通过直接分析推断
15528998 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of 4-aminobutyrate transaminase complex IDA
IDA: 通过直接分析推断
15528998 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

ABAT 蛋白结构

Aminotran_3

Aminotran_3: Aminotransferase class-III (77 - 445)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500 a.a.
蛋白主名 其他名称

4-aminobutyrate aminotransferase, mitochondrial

(S)-3-amino-2-methylpropionate transaminase

重组 ABAT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72068 ABAT Protein, Human (His, SUMO, Myc) P80404 (S29-K500) ≥95%

ABAT 抗体

目录号 产品名 应用 反应物种
HY-P82219 ABAT Antibody (YA1964) WB, IP Rat

关联疾病

疾病名称 别名
Gaba Aminotransferase Deficiency

Gamma-Aminobutyric Acid Transaminase Deficiency

Gamma Aminobutyric Acid Transaminase Deficiency

Gaba Transaminase Deficiency

Gamma-Amino Butyric Acid Transaminase Deficiency

4 Alpha Aminobutyrate Transaminase Deficiency

Abat

Gabat

Gamma Aminobutyrate Transaminase Deficiency
Gaba-Transaminase Deficiency

Gaba Transaminase Deficiency

Gamma Aminobutyric Acid Transaminase Deficiency

4 Alpha Aminobutyrate Transaminase Deficiency

Abat Deficiency

Gaba Transferase Deficiency

Gaba-T Deficiency

Gamma Aminobutyrate Transaminase Deficiency

Gamma-Aminobutyrate Transaminase Deficiency

Gamma-Aminobutyric Acid Transaminase Deficiency

GABATD
Homocarnosinosis

Homocarnosinase Deficiency

Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Type 11

Hereditary Spastic Paraplegia 11

Nakamura Osame Syndrome

Spg11

Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum

Serum Carnosinase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria

Ssadh Deficiency

Gamma-Hydroxybutyric Aciduria

Gaba Metabolic Defect

SSADHD

Ssadh

Succinate-Semialdehyde Dehydrogenase Deficiency

Gamma-Hydroxybutyricaciduria

4-Hydroxybutyricaciduria

Gamma-Hydroxybutyric Acidemia

Succinate Semialdehyde Dehydrogenase Deficiency
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
Stiff-Person Syndrome

SPS

Stiff-Man Syndrome

Stiff Man Syndrome

Stiff Person Syndrome

Moersch-Woltman Syndrome

Sms

Stiff-Trunk Syndrome

Morsch Woltman Syndrome

Stiff Person Syndrome And Related Disorders

Stiff Person Spectrum Disorder

Classic Stiff Person Syndrome

Classic Sps

Focal Stiff Limb Syndrome

Focal Stiff-Person Syndrome

Stiff Leg Syndrome

Progressive Encephalomyelitis With Rigidity
Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Hypotonia
Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD
Developmental And Epileptic Encephalopathy 13

Epileptic Encephalopathy, Early Infantile, 13

DEE13

Eiee13

Developmental And Epileptic Encephalopathy, 13

Early Infantile Epileptic Encephalopathy 13

Scn8a Encephalopathy

Early Infantile Epileptic Encephalopathy-13

Scn8a Epilepsy

Encephalopathy, Developmental And Epileptic, Type 13
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00036 ABAT 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 ABAT VGNC VGNC:99480
Rattus norvegicus ABAT RGD RGD:620948
Canis familiaris ABAT VGNC VGNC:37421
Felis catus ABAT VGNC VGNC:59460
Bos taurus ABAT VGNC VGNC:25454
Mus musculus ABAT MGD MGI:2443582
Others ABAT NCBI
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