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  5. Branched-chain-amino-acid aminotransferase, cytosolic

Tchem Branched-chain-amino-acid aminotransferase, cytosolic

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.

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]

 Comments

Property Summary

Ligand Count 4
NCBI Gene PubMed Count 39
PubMed Score 78.09
PubTator Score 38.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Cholestasis 155 0.0 0.0
Weight Gain 100 0.0 0.0
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

  Differential Expression (32)

Disease log2 FC p
adult high grade glioma 1.200 9.8e-03
aldosterone-producing adenoma -1.842 4.5e-02
astrocytic glioma -2.400 1.3e-02
Astrocytoma, Pilocytic 1.400 1.3e-05
atypical teratoid / rhabdoid tumor 1.400 5.1e-04
Breast cancer 1.600 8.2e-07
chronic lymphosyte leukemia 1.200 2.0e-02
cystic fibrosis 2.600 1.2e-04
Duchenne muscular dystrophy 1.242 1.6e-07
ependymoma -2.300 4.0e-02
gastric carcinoma 1.500 3.0e-02
glioblastoma 1.700 4.8e-06
group 3 medulloblastoma -1.700 2.3e-02
head and neck cancer and chronic obstruc... 1.400 3.5e-03
intraductal papillary-mucinous adenoma (... -2.900 5.2e-04
intraductal papillary-mucinous carcinoma... -3.100 3.9e-04
intraductal papillary-mucinous neoplasm ... -3.000 5.9e-03
invasive ductal carcinoma 1.401 3.1e-03
lung carcinoma -1.700 2.7e-11
medulloblastoma, large-cell 2.100 7.8e-04
non-small cell lung cancer 1.007 1.5e-04
oligodendroglioma -2.400 1.9e-02
osteosarcoma 2.575 1.8e-03
ovarian cancer 1.700 4.6e-04
pancreatic cancer 1.200 1.9e-03
pancreatic carcinoma 1.200 1.9e-03
pancreatic ductal adenocarcinoma liver m... 1.466 3.3e-02
pituitary cancer -2.100 1.2e-08
Polycystic ovary syndrome -1.196 5.0e-02
primary Sjogren syndrome 1.100 4.6e-04
tuberculosis -1.700 2.5e-05
ulcerative colitis 2.300 1.0e-04

Synonym

Accession P54687 B3KY27 B7Z2M5 B7Z5L0 F5H5E4 Q68DQ7 Q96MY9 BCAT(c)
Symbols BCT1
PP18
BCATC
ECA39
MECA39
PNAS121

Gene

BCAT1

PANTHER Protein Class (2)

  Ortholog (15)

Species Source Disease
Inparanoid OMA
Inparanoid OMA
Inparanoid OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid EggNOG
Inparanoid OMA
OMA EggNOG
OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA

 UniProt Keyword (12)

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 GO Function (5)

 GO Component (2)

 GO Process (6)

 Compartment GO Term (17)

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 MGI Phenotype (2)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Pathway (37)

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Protein-protein Interaction (12)

YEATS2   DMWD   FLYWCH2   ZZZ3   LRIF1   PPP2R5D   RAB3GAP1   HELZ   ATXN2   ARNT   FBXO7   TRIP12  

PDB (4)

Ligand (4)

Structure of CHEMBL205903

CHEMBL205903
pIC50 6.10

Structure of CHEMBL3617078

CHEMBL3617078
pIC50 6.60

Structure of CHEMBL1231666

CHEMBL1231666
pIC50 6.64

Structure of CHEMBL3617085

CHEMBL3617085
pIC50 7.20

Gene RIF (26)

AA Sequence 

MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEK      1 - 70
PHIKPLQNLSLHPGSSALHYAVELFEGLKAFRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLEC     71 - 140
IQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKY    141 - 210
VRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPP    211 - 280
LDGIILPGVTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETI    281 - 350
HIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS                                      351 - 386
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Text Mined References (44)

PMID Year Title