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

Summary

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. Human ortholog(s) of this gene implicated in hypervalinemia and hyperleucine-isoleucinemia. Orthologous to human BCAT2 (branched chain amino acid transaminase 2). [provided by Alliance of Genome Resources, Oct 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bcat2-Mediated Branched-Chain Amino Acid Catabolism Is Linked to the Aggravated Inflammation in Obese with Psoriasis Mice.
Title: Bcat2-Mediated Branched-Chain Amino Acid Catabolism Is Linked to the Aggravated Inflammation in Obese with Psoriasis Mice.
Deletion of BCATm increases insulin-stimulated glucose oxidation in the heart.
Title: Deletion of BCATm increases insulin-stimulated glucose oxidation in the heart.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235663

PMC324540P1 (e-PCR)
- UniSTS:273132

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-isoleucine-2-oxoglutarate transaminase activity	IEA Inferred from Electronic Annotation more info
enables L-isoleucine-2-oxoglutarate transaminase activity	ISO Inferred from Sequence Orthology more info
enables L-leucine-2-oxoglutarate transaminase activity	IEA Inferred from Electronic Annotation more info
enables L-leucine-2-oxoglutarate transaminase activity	ISO Inferred from Sequence Orthology more info
enables L-valine-2-oxoglutarate transaminase activity	IEA Inferred from Electronic Annotation more info
enables L-valine-2-oxoglutarate 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

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
involved_in L-valine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in 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
acts_upstream_of_or_within valine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	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	IEA Inferred from Electronic Annotation 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

EC 2.6.1.42

NP_001398928.1

EC 2.6.1.42

NP_001398929.1

EC 2.6.1.42

NP_001398930.1

EC 2.6.1.42

NP_033867.1

EC 2.6.1.42

XP_017177443.1

EC 2.6.1.42

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)

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

Status: VALIDATED

Source sequence(s)

AC151602
NM_001412001.1 → NP_001398930.1 branched-chain-amino-acid aminotransferase, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC151602
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

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

45219773..45239134

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.