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Details on Person UniProt:O15382 BCAT2
| Class:Id | ReferenceGeneProduct:50748 |
|---|---|
| _chainChangeLog | transit peptide:1-27 added on Fri February 6 2015;chain:28-392 added on Fri February 6 2015 |
| _displayName | UniProt:O15382 BCAT2 |
| _timestamp | 2026-02-20 22:29:59 |
| chain | transit peptide:1-27 chain:28-392 |
| checksum | EC07047264B190DA |
| comment | FUNCTION Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:17050531, PubMed:25653144, PubMed:8702755). Branched chain amino acid catabolism plays a role in adipocyte differentiation by providing lipogenic acetyl-CoA pools in differentiated adipocytes (By similarity). Mechanistically, acetyl-CoA derived from branched chain amino acid catabolism is used by EP300/p300 to acetylate and inhibit PRDM16, thereby preventing adipose tissue browning (By similarity). May also function as a transporter of branched chain alpha-keto acids (By similarity).CATALYTIC ACTIVITY L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamateCATALYTIC ACTIVITY L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamateCATALYTIC ACTIVITY L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamateCOFACTOR Homodimer.INTERACTION Ubiquitous.DISEASE The disease is caused by variants affecting the gene represented in this entry. A patient with hypervalinemia and hyperleucine-isoleucinemia was identified as compound heterozygote for Gln-170 (inherited from his father) and Lys-264 (inherited from his mother), both variants reduced the catalytic activity of the enzyme. After treatment with vitamin B6, a precursor of pyridoxal 5'-phosphate, a BCAT2 cofactor, the blood levels of branched chain amino acids, especially valine, were decreased and brain lesions were improved.SIMILARITY Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family. |
| description | recommendedName: fullName evidence="15"Branched-chain-amino-acid aminotransferase, mitochondrial shortName evidence="15"BCAT(m) ecNumber evidence="10"2.6.1.42 alternativeName: fullName evidence="12"Placental protein 18 shortName evidence="12"PP18 |
| geneName | BCAT2 BCATM BCT2 ECA40 |
| identifier | O15382 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Amino-acid biosynthesis Aminotransferase Branched-chain amino acid biosynthesis Disease variant Lipid metabolism Mitochondrion Proteomics identification Pyridoxal phosphate Reference proteome Transferase Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | BCAT2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997592] ENSEMBL:ENSG00000105552 BCAT2 [Homo sapiens] |
| secondaryIdentifier | BCAT2_HUMAN B2RB87 O00269 Q96KG1 Q9BTB6 Q9BUU6 |
| sequenceLength | 392 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:144542] UniProt:O15382-2 BCAT2 [Homo sapiens] [ReferenceIsoform:401338] UniProt:O15382-1 BCAT2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:70703] PXLP-BCAT2 [mitochondrial matrix] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:508188] N6-pyridoxal phosphate-L-lysine at 229 |
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No pathways have been reviewed or authored by UniProt:O15382 BCAT2 (50748)
