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

BCAT1 - branched chain amino acid transaminase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BCT1; PP18; BCATC; ECA39; MECA39; PNAS121

Gene ID: 586 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCAT1 Protein Structure

Aminotran_4

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

  • 0
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  • 300
  • 386 a.a.
Protein Preferred Names Protein Names

branched-chain-amino-acid aminotransferase, cytosolic

branched chain amino-acid transaminase 1, cytosolic

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (7)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-148242 BAY-069 99.58% Unkown
HY-116044 BCATc Inhibitor 2 Inhibitor 99.83% Unkown
HY-W193545A ERG240 ≥98.0% Unkown
HY-148242A BAY-252 99.83% Unkown
HY-159730 ERG245 Inhibitor 99.49% Unkown
HY-156965 BAY-771 / Unkown
HY-RS01402 BCAT1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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