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BCAT2 branched chain amino acid transaminase 2 [ Homo sapiens (human) ]

Gene ID: 587, updated on 8-Jul-2021

Summary

Official Symbol
BCAT2provided by HGNC
Official Full Name
branched chain amino acid transaminase 2provided by HGNC
Primary source
HGNC:HGNC:977
See related
Ensembl:ENSG00000105552 MIM:113530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCAM; BCT2; HVLI; PP18; BCATM
Summary
This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in urinary bladder (RPKM 16.4), adrenal (RPKM 15.6) and 25 other tissues See more
Orthologs
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Genomic context

See BCAT2 in Genome Data Viewer
Location:
19q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48795064..48811029, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49298321..49314286, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated FUT1 regulatory element Neighboring gene RNA, U6 small nuclear 317, pseudogene Neighboring gene uncharacterized LOC105372432 Neighboring gene CRISPRi-FlowFISH-validated BCAT2 regulatory element Neighboring gene hydroxysteroid 17-beta dehydrogenase 14 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-isoleucine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables L-leucine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables L-leucine:2-oxoglutarate aminotransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables L-valine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables branched-chain-amino-acid transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in branched-chain amino acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in isoleucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in leucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of hormone levels IEA
Inferred from Electronic Annotation
more info
 
involved_in valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
branched-chain-amino-acid aminotransferase, mitochondrial
Names
branched chain amino-acid transaminase 2, mitochondrial
branched chain aminotransferase 2, mitochondrial
placental protein 18
NP_001158245.1
NP_001181.2
NP_001271254.1
XP_024307398.1

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.

Genomic

  1. NG_013003.1 RefSeqGene

    Range
    5035..21000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164773.2NP_001158245.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001158245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks two alternate in-frame exons in the 5' coding region, compared to variant a. The resulting isoform (b), also known as PP18b, lacks an internal segment near the N-terminus, compared to isoform a, which disrupts the transit peptide. This isoform is found in the cytosol.
    Source sequence(s)
    AF268048, DA129578
    Consensus CDS
    CCDS54290.1
    UniProtKB/Swiss-Prot
    O15382
    Related
    ENSP00000440973.1, ENST00000545387.6
    Conserved Domains (1) summary
    cd01557
    Location:2290
    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_001190.4NP_001181.2  branched-chain-amino-acid aminotransferase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001181.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes the longest isoform (a), also known as PP18a.
    Source sequence(s)
    BC001900, CA310873, DA129578
    Consensus CDS
    CCDS12735.1
    UniProtKB/Swiss-Prot
    O15382
    Related
    ENSP00000322991.5, ENST00000316273.11
    Conserved Domains (1) summary
    cd01557
    Location:87382
    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 ...
  3. NM_001284325.2NP_001271254.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001271254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant a. These differences cause translation initiation at a downstream start codon and result in an isoform (c) with a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK093627, BC001900, BM802402, CA310873
    Consensus CDS
    CCDS74416.1
    UniProtKB/Swiss-Prot
    O15382
    UniProtKB/TrEMBL
    B3KSI3
    Related
    ENSP00000385161.1, ENST00000402551.5
    Conserved Domains (1) summary
    cd01557
    Location:47342
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48795064..48811029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451630.1XP_024307398.1  branched-chain-amino-acid aminotransferase, mitochondrial isoform X1

    Related
    ENSP00000469651.1, ENST00000597011.5
    Conserved Domains (1) summary
    cd01557
    Location:47342
    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 ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_028451.1: Suppressed sequence

    Description
    NR_028451.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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