2. Gene
  3. BCAT1 - branched chain amino acid transaminase 1 Gene

BCAT1 - branched chain amino acid transaminase 1 Gene

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

中文名称：支链氨基酸转氨酶 1

种属: Homo sapiens

同用名: BCT1; PP18; BCATC; ECA39; MECA39; PNAS121

基因 ID: 586 | 基因类型: protein coding

关于 BCAT1

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:24,810,024-24,949,101 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues and 1 paralogue. Broad expression in placenta (RPKM 7.3), pancreas (RPKM 6.7) and 22 other tissues.

功能概要

该基因编码支链氨基酸转氨酶的胞质形式。这种酶催化支链 α-酮酸可逆转氨作用成为细胞生长所必需的支链 L-氨基酸。两种不同的临床疾病归因于支链氨基酸转氨作用的缺陷：高缬氨酸血症和高亮氨酸-异亮氨酸血症。由于还有一个基因编码这种酶的线粒体形式，因此任一基因的突变都可能导致这些疾病。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2010 年 5 月]

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

BCAT1 基因产物(27)

mRNA Protein Name
NM_001178091.2 NP_001171562.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 2
NM_001178092.2 NP_001171563.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 3
NM_001178093.2 NP_001171564.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 4
NM_001178094.2 NP_001171565.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 5
NM_001413086.1 NP_001400015.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 6
NM_001413087.1 NP_001400016.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 7
NM_001413088.1 NP_001400017.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 8
NM_001413089.1 NP_001400018.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 9
NM_001413090.1 NP_001400019.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 10
NM_001413091.1 NP_001400020.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 11
NM_001413092.1 NP_001400021.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 12
NM_001413093.1 NP_001400022.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 13
NM_001413094.1 NP_001400023.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 14
NM_001413095.1 NP_001400024.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 15
NM_001413096.1 NP_001400025.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 16
NM_001413097.1 NP_001400026.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 17
NM_001413098.1 NP_001400027.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 18
NM_001413099.1 NP_001400028.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 19
NM_001413100.1 NP_001400029.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 20
NM_001413101.1 NP_001400030.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 21
NM_001413102.1 NP_001400031.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 22
NM_001413103.1 NP_001400032.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 23
NM_001413104.1 NP_001400033.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 24
NM_001413105.1 NP_001400034.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 24
NM_001413106.1 NP_001400035.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 24
NM_001413107.1 NP_001400036.1 branched-chain-amino-acid aminotransferase, cytosolic isoform 24
NM_005504.7 NP_005495.2 branched-chain-amino-acid aminotransferase, cytosolic isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 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

BCAT1 蛋白结构

Aminotran_4

Aminotran_4: Amino-transferase class IV (114 - 344)

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

branched-chain-amino-acid aminotransferase, cytosolic

branched chain amino-acid transaminase 1, cytosolic

关联疾病

疾病名称 别名
Hypervalinemia And Hyperleucine-Isoleucinemia

Hypervalinemia Or Hyperleucine-Isoleucinemia

HVLI

Branched-Chain Aminotransferase Deficiency
Hyperleucine-Isoleucinemia
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
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 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-148242 BAY-069 99.58% 否
HY-116044 BCATc Inhibitor 2 Inhibitor 99.28% 否
HY-W193545A ERG240 ≥98.0% 否
HY-148242A BAY-252 99.83% 否
HY-159730 ERG245 Inhibitor 99.49% 否
HY-169061 WQQ-345 / 否
HY-156965 BAY-771 / 否
HY-RS01402 BCAT1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17226 Bcat1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS23679 Bcat1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus BCAT1 MGD MGI:104861
Canis familiaris BCAT1 VGNC VGNC:38401
Bos taurus BCAT1 VGNC VGNC:26439
Felis catus BCAT1 VGNC VGNC:69202
Macaca mulatta BCAT1 VGNC VGNC:70236
Rattus norvegicus BCAT1 RGD RGD:2195
Others BCAT1 NCBI
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