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UniProt functional annotation for O15382 | ||
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| UniProt code: O15382. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine (PubMed:25653144). May also function as a transporter of branched chain alpha-keto acids. {ECO:0000269|PubMed:25653144}. |
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| Catalytic activity: | |
Reaction=2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L- glutamate; Xref=Rhea:RHEA:18321, ChEBI:CHEBI:16810, ChEBI:CHEBI:17865, ChEBI:CHEBI:29985, ChEBI:CHEBI:57427; EC=2.6.1.42; |
| Catalytic activity: | |
Reaction=2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:24801, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:35146, ChEBI:CHEBI:58045; EC=2.6.1.42; |
| Catalytic activity: | |
Reaction=2-oxoglutarate + L-valine = 3-methyl-2-oxobutanoate + L- glutamate; Xref=Rhea:RHEA:24813, ChEBI:CHEBI:11851, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57762; EC=2.6.1.42; |
| Cofactor: | |
Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; |
| Subunit: | |
Homodimer. {ECO:0000269|PubMed:11264579}. |
| Subcellular location: | |
[Isoform A]: Mitochondrion. |
| Subcellular location: | |
[Isoform B]: Cytoplasm. |
| Tissue specificity: | |
Ubiquitous. |
| Disease: | |
Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850]: An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine/isoleucine. Affected individuals suffer from headache and mild memory impairment. {ECO:0000269|PubMed:25653144}. Note=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. {ECO:0000269|PubMed:25653144}. |
| Similarity: | |
Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=AAB53087.1; Type=Erroneous initiation; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.