BCAT1 (branched chain amino acid transaminase 1)

Gene

• Entrez ID: 586
• Gene name: Branched chain amino acid transaminase 1
• Gene symbol: BCAT1
• Synonyms: BCATC, BCT1, ECA39, MECA39, PNAS121, PP18
• Chromosome: 12
• Chromosome location: 12p12.1
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004088	hsa-miR-155-5p	Microarray	19193853
MIRT028360	hsa-miR-32-5p	Sequencing, PAR-CLIP	20371350
MIRT028360	hsa-miR-32-5p	PAR-CLIP	23446348
MIRT030880	hsa-miR-21-5p	Microarray	18591254
MIRT039195	hsa-miR-769-5p	CLASH	23622248
MIRT052293	hsa-let-7b-5p	CLASH	23622248
MIRT052384	hsa-let-7a-5p	CLASH	23622248
MIRT480920	hsa-miR-5010-3p	PAR-CLIP	23592263
MIRT480920	hsa-miR-5010-3p	PAR-CLIP	20371350
MIRT480921	hsa-miR-2113	PAR-CLIP	23592263
MIRT480921	hsa-miR-2113	PAR-CLIP	20371350
MIRT480922	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT480922	hsa-miR-3692-3p	PAR-CLIP	20371350
MIRT480923	hsa-miR-4752	PAR-CLIP	23592263
MIRT480923	hsa-miR-4752	PAR-CLIP	20371350
MIRT480924	hsa-miR-6833-5p	PAR-CLIP	23592263
MIRT480924	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT480925	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT480925	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT480926	hsa-miR-593-5p	PAR-CLIP	23592263
MIRT480927	hsa-miR-6077	PAR-CLIP	23592263
MIRT480927	hsa-miR-6077	PAR-CLIP	20371350
MIRT480928	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT480928	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT480929	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT480930	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT480930	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT480931	hsa-miR-4328	PAR-CLIP	23592263
MIRT480931	hsa-miR-4328	PAR-CLIP	20371350
MIRT480932	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT480933	hsa-miR-4733-3p	PAR-CLIP	23592263
MIRT480934	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT508006	hsa-miR-106a-3p	PAR-CLIP	23446348
MIRT508006	hsa-miR-106a-3p	PAR-CLIP	20371350
MIRT508007	hsa-miR-137	PAR-CLIP	23446348
MIRT508007	hsa-miR-137	PAR-CLIP	20371350
MIRT508008	hsa-miR-3152-3p	PAR-CLIP	23446348
MIRT508008	hsa-miR-3152-3p	PAR-CLIP	20371350
MIRT508009	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT508009	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT508010	hsa-miR-92b-3p	PAR-CLIP	23446348
MIRT508010	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT508011	hsa-miR-92a-3p	PAR-CLIP	23446348
MIRT508011	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT508012	hsa-miR-367-3p	PAR-CLIP	23446348
MIRT508012	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT508013	hsa-miR-363-3p	PAR-CLIP	23446348
MIRT508013	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT508014	hsa-miR-25-3p	PAR-CLIP	23446348
MIRT508014	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT508015	hsa-miR-5583-5p	PAR-CLIP	23446348
MIRT508015	hsa-miR-5583-5p	PAR-CLIP	20371350
MIRT508016	hsa-miR-3129-3p	PAR-CLIP	23446348
MIRT508016	hsa-miR-3129-3p	PAR-CLIP	20371350
MIRT508017	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT508017	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT508018	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT508018	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT508019	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT508019	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT508020	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT508020	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT508021	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT508021	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT508022	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT508022	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT508023	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT508023	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT508024	hsa-miR-548z	PAR-CLIP	23446348
MIRT508024	hsa-miR-548z	PAR-CLIP	20371350
MIRT508025	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT508025	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT508026	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT508026	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT508027	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT508027	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT508028	hsa-miR-548ac	PAR-CLIP	23446348
MIRT508028	hsa-miR-548ac	PAR-CLIP	20371350
MIRT660340	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT660341	hsa-miR-4653-5p	HITS-CLIP	23824327
MIRT660342	hsa-miR-3921	HITS-CLIP	23824327
MIRT660343	hsa-miR-301b-5p	HITS-CLIP	23824327
MIRT660344	hsa-miR-301a-5p	HITS-CLIP	23824327
MIRT660345	hsa-miR-146a-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	TAS	8692959
GO:0004084	Function	Branched-chain-amino-acid transaminase activity	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0009082	Process	Branched-chain amino acid biosynthetic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0009098	Process	Leucine biosynthetic process	IBA	21873635
GO:0009099	Process	Valine biosynthetic process	IBA	21873635
GO:0042802	Function	Identical protein binding	IEA
GO:0052654	Function	L-leucine transaminase activity	IEA
GO:0052655	Function	L-valine transaminase activity	IEA
GO:0052656	Function	L-isoleucine transaminase activity	IEA

Other IDs

• MIM: 113520
• HGNC: 976
• e!Ensembl: ENSG00000060982

Protein

• UniProt ID: P54687
• Protein name: Branched-chain-amino-acid aminotransferase, cytosolic (BCAT(c)) (EC 2.6.1.42) (Protein ECA39)
• Protein function: Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
• PDB: 2ABJ, 2COG, 2COI, 2COJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01063	Aminotran_4	93 → 343	Amino-transferase class IV	Domain

• Sequence:

  MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTV
  EWSSEFGWEKPHIKPLQNLSLHPGSSALHYAVELFEGLKAFRGVDNKIRLFQPNLNMDRM
  YRSAVRATLPVFDKEELLECIQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTK
  ALLFVLLSPVGPYFSSGTFNPVSLWANPKYVRAWKGGTGDCKMGGNYGSSLFAQCEAVDN
  GCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPPLDGIILPGVTRRCILDLAHQ
  WGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETIHIPTMENGPK
  LASRILSKLTDIQYGREESDWTIVLS

• Sequence length: 386