1. Gene
  2. BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha Gene

BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha Gene

中文名称:支链酮酸脱氢酶 E1 亚基 α

种属: Homo sapiens

同用名: MSU; MSUD1; OVD1A; BCKDE1A

基因 ID: 593 | 基因类型: protein coding

关于 BCKDHA

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,397,818-41,425,002 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in heart (RPKM 29.4), kidney (RPKM 27.9) and 25 other tissues.

功能概要

支链α-酮酸 (BCAA) 脱氢酶 (BCKD) 复合物是一种线粒体内酶复合物,可催化支链氨基酸亮氨酸、异亮氨酸和缬氨酸分解代谢的第二个主要步骤。 BCKD 复合物由三个催化组分组成:异四聚体 (alpha2-beta2) 支链 α-酮酸脱羧酶 (E1) 、二氢硫辛酰转酰酶 (E2) 和二氢硫辛酰胺脱氢酶 (E3) 。该基因编码脱羧酶 (E1) 成分的 α 亚基。该基因的突变会导致 IA 型枫糖尿症。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial Enzyme complex that catalyzes the second major step in the catabolism of the branched-chain Amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

BCKDHA 基因产物(2)

mRNA Protein Name
NM_000709.4 NP_000700.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor
NM_001164783.2 NP_001158255.1 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in branched-chain amino acid catabolic process IDA
IDA: 通过直接分析推断
3593587 GOA
involved in branched-chain amino acid catabolic process IMP
IMP: 通过突变表型推断
9582350 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of branched-chain alpha-ketoacid dehydrogenase complex IDA
IDA: 通过直接分析推断
7883996 GOA
part of branched-chain alpha-ketoacid dehydrogenase complex IPI
IPI: 通过物理相互作用推断
3593587 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

BCKDHA 蛋白结构

E1_dh

E1_dh: Dehydrogenase E1 component (106 - 405)

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

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

2-oxoisovalerate dehydrogenase (lipoamide)

BCKDHA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BCKDHA P12694 BCKDHB Homo sapiens P21953 15576032
种属内
BCKDHA P12694 BCKDHB Homo sapiens P21953 12902323
种属内
BCKDHA P12694 BCKDHB Homo sapiens P21953 15166214
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Intermediate Maple Syrup Urine Disease

Intermediate Bckd Deficiency

Intermediate Msud

Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

Epstein-Barr Virus Hepatitis
Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency

Isovaleryl-Coa Dehydrogenase Deficiency

IVA

Ivd Deficiency

Acidemia, Isovaleric

Isovaleric Aciduria

Isovaleryl Coa Carboxylase Deficiency

Isovaleric Acid-Coa Dehydrogenase Deficiency

Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency

Very Long Chain Acyl-Coa Dehydrogenase Deficiency

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Lcad Deficiency

Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

Long Chain Acyl-Coa Dehydrogenase Deficiency

ACADVLD

Acadl Deficiency

Vlcadd

Long-Chain Acyl-Coa Dehydrogenase Deficiency

Acadvl

Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

Vlcad-C

Vlcad-H

Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

Acyl-Coa Dehydrogenase Long-Chain Deficiency

Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

Long Chain/Very Long Chain Acyl Coa 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

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency

GA1

Glutaric Acidemia Type 1

Glutaric Aciduria 1

Glutaric Aciduria Type 1

Glutaric Acidemia Type I

Glutaric Aciduria, Type 1

Glutaric Aciduria I

Ga I

Glutaricaciduria, Type I

Glutaryl-Coenzyme A Dehydrogenase Deficiency

Glutaric Academia Type 1

Glutaric Aciduria Type I

Ga-1

Gcdh Deficiency

Ga 1

Glutaric Acidemia 1

Gcdhd

Glutaric Aciduria, Type I

Glutaricaciduria I

Ga-I

Glutaricaciduria, Type 1

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus BCKDHA RGD RGD:2196
Mus musculus BCKDHA MGD MGI:107701