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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 (Branched Chain Amino Acid Transaminase 1) is a Protein Coding gene. Diseases associated with BCAT1 include Hyperleucine-Isoleucinemia and Hypervalinemia And Hyperleucine-Isoleucinemia. Among its related pathways are Sulfur amino acid metabolism and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include identical protein binding and L-leucine transaminase activity. An important paralog of this gene is BCAT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004084 | branched-chain-amino-acid transaminase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | -- |
GO:0008483 | transaminase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Carbon metabolism | ||
3 | Sulfur amino acid metabolism | ||
4 | Metabolism |
.40
|
|
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000082 | G1/S transition of mitotic cell cycle | TAS | 8692959 |
GO:0008652 | cellular amino acid biosynthetic process | IEA | -- |
GO:0009081 | branched-chain amino acid metabolic process | IEA | -- |
GO:0009082 | branched-chain amino acid biosynthetic process | TAS,IEA | -- |
GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Valine | Approved | Nutra | Target, Enzyme, substrate | 41 | ||
Gabapentin | Approved, Investigational | Pharma | Enzyme, inhibitor | GABA enhancer | 436 | |
Glutamic acid | Approved | Nutra | Target | 320 | ||
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 17 | ||
Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 97 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCAT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BCAT1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcat1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcat1 30 |
|
||
Chicken (Gallus gallus) |
Aves | BCAT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCAT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcat1 30 |
|
||
Str.15554 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14452 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcat1 30 31 |
|
OneToOne | |
wufj66g02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1673 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000011 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | bcat-1 30 31 |
|
ManyToMany | |
Y44A6D.5 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BAT2 30 31 33 |
|
ManyToMany | |
BAT1 31 |
|
ManyToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL384W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATBCAT-5 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0558400 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7238 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17374606 | Benign: not provided | 24,901,853(-) |
G/A NM_005504.7(BCAT1):c.39C>T (p.Thr13=) |
SYNONYMOUS_VARIANT,INTRON | |
rs185686698 | Likely Benign: not provided | 24,901,835(-) |
T/C NM_005504.7(BCAT1):c.57A>G (p.Lys19=) |
SYNONYMOUS_VARIANT,INTRON | |
rs762733850 | Likely Benign: not provided | 24,832,804(-) |
C/T NM_005504.7(BCAT1):c.963G>A (p.Glu321=) |
SYNONYMOUS | |
rs1057204 | - |
p.Gly330Ser |
|||
rs17374285 | - |
p.Thr59Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2412n54 | CNV | gain | 21841781 |
esv2422312 | CNV | duplication | 17116639 |
esv2667659 | CNV | deletion | 23128226 |
esv3580195 | CNV | loss | 25503493 |
esv3628881 | CNV | loss | 21293372 |
esv3628883 | CNV | loss | 21293372 |
esv3628884 | CNV | loss | 21293372 |
nsv469169 | CNV | gain | 19166990 |
nsv469173 | CNV | gain | 19166990 |
nsv520878 | CNV | loss | 19592680 |
nsv525641 | CNV | gain | 19592680 |
nsv557775 | CNV | gain | 21841781 |
nsv557794 | CNV | gain | 21841781 |
nsv646 | CNV | insertion | 18451855 |
nsv819279 | CNV | loss | 19587683 |
nsv826283 | CNV | loss | 20364138 |
nsv832353 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperleucine-isoleucinemia |
|
|
hypervalinemia and hyperleucine-isoleucinemia |
|
|
maple syrup urine disease |
|
|