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Bcat2 branched chain aminotransferase 2, mitochondrial [ Mus musculus (house mouse) ]

Gene ID: 12036, updated on 21-Apr-2024

Summary

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Official Symbol
Bcat2provided by MGI
Official Full Name
branched chain aminotransferase 2, mitochondrialprovided by MGI
Primary source
MGI:MGI:1276534
See related
Ensembl:ENSMUSG00000030826 AllianceGenome:MGI:1276534
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Eca40; Bcat-2; Bcat(m)
Summary
Enables branched-chain-amino-acid transaminase activity. Acts upstream of or within branched-chain amino acid metabolic process; cellular response to leukemia inhibitory factor; and regulation of hormone levels. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study maple syrup urine disease. Orthologous to human BCAT2 (branched chain amino acid transaminase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 36.2), subcutaneous fat pad adult (RPKM 34.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 B3; 7 29.36 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (45219773..45239134)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (45568967..45589710)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 Neighboring gene predicted gene, 53387 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 14 Neighboring gene STARR-seq mESC enhancer starr_18846 Neighboring gene RIKEN cDNA 0610005C13 gene Neighboring gene STARR-positive B cell enhancer ABC_E3717 Neighboring gene STARR-positive B cell enhancer ABC_E1340 Neighboring gene STARR-positive B cell enhancer ABC_E4926 Neighboring gene predicted gene, 31479 Neighboring gene Fgf21 promoter region Neighboring gene fibroblast growth factor 21

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Impaired branched chain amino acid metabolism alters feeding behavior and increases orexigenic neuropeptide expression in the hypothalamus. Purpera MN, et al. J Endocrinol, 2012 Jan. PMID 21969404, Free PMC Article
  2. BCATm deficiency ameliorates endotoxin-induced decrease in muscle protein synthesis and improves survival in septic mice. Lang CH, et al. Am J Physiol Regul Integr Comp Physiol, 2010 Sep. PMID 20554928, Free PMC Article
  3. Disruption of BCAA metabolism in mice impairs exercise metabolism and endurance. She P, et al. J Appl Physiol (1985), 2010 Apr. PMID 20133434, Free PMC Article
  4. Global deletion of BCATm increases expression of skeletal muscle genes associated with protein turnover. Lynch CJ, et al. Physiol Genomics, 2015 Nov. PMID 26351290, Free PMC Article
  5. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice. Zimmerman HA, et al. Mol Genet Metab, 2013 Aug. PMID 23800641, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion of BCATm increases insulin-stimulated glucose oxidation in the heart.
    Title: Deletion of BCATm increases insulin-stimulated glucose oxidation in the heart.
  2. leucine supplementation increased the expression of enzymes (BCAT1, BCAT2 and BCKDK) that metabolize branched-chain amino acids.
    Title: Oral leucine supplementation is sensed by the brain but neither reduces food intake nor induces an anorectic pattern of gene expression in the hypothalamus.
  3. knockout caused increased expression of orexigenic neuropeptides and an avoidance of branched chain amino acid but not high-protein diets
    Title: Impaired branched chain amino acid metabolism alters feeding behavior and increases orexigenic neuropeptide expression in the hypothalamus.
  4. Increased blood branched-chain amino acids is sufficient to ameliorate the catabolic effect of LPS on skeletal muscle protein synthesis; this may provide a survival advantage in response to bacterial infection.
    Title: BCATm deficiency ameliorates endotoxin-induced decrease in muscle protein synthesis and improves survival in septic mice.
  5. BCAT2 has a role in branched chain amino acid (BCAA) metabolism modified by GLUT4 glucose-transporter
    Title: Adipose tissue branched chain amino acid (BCAA) metabolism modulates circulating BCAA levels.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Chemically induced (ENU) (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables L-isoleucine transaminase activity ISO
Inferred from Sequence Orthology
more info
  
enables L-leucine transaminase activity ISO
Inferred from Sequence Orthology
more info
  
enables L-valine transaminase activity ISO
Inferred from Sequence Orthology
more info
  
enables branched-chain-amino-acid transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables branched-chain-amino-acid transaminase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables branched-chain-amino-acid transaminase activity ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables transaminase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in L-leucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in L-leucine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within L-leucine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within branched-chain amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within branched-chain amino acid catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in branched-chain amino acid catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within branched-chain amino acid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
 PubMed 
acts_upstream_of_or_within isoleucine catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in isoleucine catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within isoleucine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of hormone levels IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within valine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
branched-chain-amino-acid aminotransferase, mitochondrial
NP_001229981.1
NP_001398928.1
NP_001398929.1
NP_001398930.1
NP_033867.1
XP_017177443.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001243052.2 → NP_001229981.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001229981.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AC151602
    Consensus CDS
    CCDS57549.1
    UniProtKB/TrEMBL
    A0A1B0GX27, D3Z7C8, O88374
    Related
    ENSMUSP00000148152.2, ENSMUST00000209204.2
    Conserved Domains (2) summary
    PRK13357
    Location:1 → 353
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:48 → 343
    BCAT_beta_family; BCAT_beta_family: Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and ...

  2. NM_001411999.1 → NP_001398928.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC151602
    UniProtKB/TrEMBL
    D3Z7C8, O88374
    Related
    ENSMUSP00000147628.2, ENSMUST00000211173.2

  3. NM_001412000.1 → NP_001398929.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC151602

  4. NM_001412001.1 → NP_001398930.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC151602

  5. NM_009737.4 → NP_033867.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_033867.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC151602
    Consensus CDS
    CCDS21252.1
    UniProtKB/Swiss-Prot
    O35855, Q8VD03
    UniProtKB/TrEMBL
    A0A1B0GX27, Q3ULU3
    Related
    ENSMUSP00000033098.8, ENSMUST00000033098.16
    Conserved Domains (2) summary
    PRK13357
    Location:41 → 393
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:88 → 383
    BCAT_beta_family; BCAT_beta_family: Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and ...

RNA

  1. NR_177994.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC151602

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    45219773..45239134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017321954.3 → XP_017177443.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A1B0GX27
    Conserved Domains (1) summary
    cd01557
    Location:48 → 350
    BCAT_beta_family; Branched-chain aminotransferase catalyses the transamination of the branched-chain amino acids leusine, isoleucine and valine to their respective alpha-keto acids, alpha-ketoisocaproate, alpha-keto-beta-methylvalerate and alpha-ketoisovalerate. The ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001243053.1: Suppressed sequence

    Description
    NM_001243053.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O35855.2 GenPept UniProtKB/Swiss-Prot:O35855

Gene LinkOut

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