BCAT2
entrez
587
canonical
uniprot
O15382
canonical
ensembl
ENSG00000105552
resolver
ensp
ENSP00000322991
resolver
ensp
ENSP00000385161
resolver
ensp
ENSP00000440973
resolver
ensp
ENSP00000469651
resolver
enst
ENST00000402551
resolver
enst
ENST00000597011
resolver
genesymbol
BCAT2
resolver
genesymbol_syn
BCATM
resolver
genesymbol_syn
BCT2
resolver
genesymbol_syn
ECA40
resolver
hgnc
HGNC:977
resolver
uniprot
B2RB87
resolver
uniprot
B3KSI3
resolver
uniprot
F6QZF8
resolver
uniprot
O00269
resolver
uniprot
Q96KG1
resolver
uniprot
Q9BTB6
resolver
uniprot
Q9BUU6
resolver
uniprot_entry
B3KSI3_HUMAN
resolver
uniprot_entry
BCAT2_HUMAN
resolver
uniprot_entry
F6QZF8_HUMAN
resolver
uniprot_sec
B2RB87
resolver
uniprot_sec
O00269
resolver
uniprot_sec
Q96KG1
resolver
uniprot_sec
Q9BTB6
resolver
uniprot_sec
Q9BUU6
resolver
amino_acid_sequence
MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQKPHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLFEGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVPDAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFIRAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTHEDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVREVFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQYGIRAHEWMFPV
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:31177572}. 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}.
uniprot
proteins
ec_number
2.6.1.42
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:O35854, ECO:0000250|UniProtKB:O35855, ECO:0000269|PubMed:17050531, ECO:0000269|PubMed:25653144, ECO:0000269|PubMed:8702755}.
uniprot
proteins
mass_dalton
44288
uniprot
proteins
mutagenesis
MUTAGEN 342; /note="C->A: Reduces activity about 6-fold."; /evidence="ECO:0000269|PubMed:17050531"; MUTAGEN 345; /note="C->A: Slight reduction of activity."; /evidence="ECO:0000269|PubMed:17050531
uniprot
proteins
protein_family
Class-IV pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
11170829
uniprot
proteins
pubmed
11264579
uniprot
proteins
pubmed
12269802
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141215
uniprot
proteins
pubmed
17050531
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25653144
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31177572
uniprot
proteins
pubmed
8702755
uniprot
proteins
pubmed
9165094
uniprot
proteins
sequence_length
392
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:O35854}.
uniprot
proteins