BCAT1 - branched chain amino acid transaminase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 586

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 References 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
  • 100
  • 200
  • 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

Pre-clinical Phase

Bioactive Molecules (10)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-148242 BAY-069 99.54% Unkown
HY-116044 BCATc Inhibitor 2 Inhibitor 99.28% Unkown
HY-W193545A ERG240 Inhibitor 98.0% Unkown
HY-159730 ERG245 Inhibitor 99.49% Unkown
HY-148242A BAY-252 99.83% Unkown
HY-RS01402 BCAT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-169061 WQQ-345 / Unkown
HY-156965 BAY-771 / Unkown
HY-RS17226 Bcat1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23679 Bcat1 Rat Pre-designed siRNA Set A Pre-designed Set / 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