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BCAT1 branched chain amino acid transaminase 1 [ Homo sapiens (human) ]

Gene ID: 586, updated on 7-Oct-2018

Summary

Official Symbol
BCAT1provided by HGNC
Official Full Name
branched chain amino acid transaminase 1provided by HGNC
Primary source
HGNC:HGNC:976
See related
Ensembl:ENSG00000060982 MIM:113520; Vega:OTTHUMG00000169053
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
BCT1; PP18; BCATC; ECA39; MECA39; PNAS121
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]
Expression
Broad expression in placenta (RPKM 7.3), pancreas (RPKM 6.7) and 22 other tissues See more
Orthologs

Genomic context

See BCAT1 in Genome Data Viewer
Location:
12p12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (24810024..24949459, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (24962958..25102393, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369698 Neighboring gene ribosomal protein L21 pseudogene 102 Neighboring gene RNA, 7SL, cytoplasmic 38, pseudogene Neighboring gene uncharacterized LOC105369699 Neighboring gene defender against cell death 1 pseudogene 1 Neighboring gene uncharacterized LOC107984475 Neighboring gene brain protein I3 pseudogene 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686E12175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-isoleucine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
L-leucine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
L-valine transaminase activity IEA
Inferred from Electronic Annotation
more info
 
branched-chain-amino-acid transaminase activity EXP
Inferred from Experiment
more info
PubMed 
branched-chain-amino-acid transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
branched-chain amino acid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
leucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
branched-chain-amino-acid aminotransferase, cytosolic
Names
branched chain amino-acid transaminase 1, cytosolic
branched chain aminotransferase 1, cytosolic
placental protein 18
NP_001171562.1
NP_001171563.1
NP_001171564.1
NP_001171565.1
NP_005495.2
XP_016875257.1

NCBI Reference Sequences (RefSeq)

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_008170.1 RefSeqGene

    Range
    4916..144351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178091.1NP_001171562.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 2

    See identical proteins and their annotated locations for NP_001171562.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC023796, AK056255, AK299088, BU618839
    Consensus CDS
    CCDS53763.1
    UniProtKB/Swiss-Prot
    P54687
    Related
    ENSP00000440827.1, OTTHUMP00000240006, ENST00000539780.5, OTTHUMT00000402085
    Conserved Domains (2) summary
    PRK13357
    Location:32341
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:80338
    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_001178092.1NP_001171563.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 3

    See identical proteins and their annotated locations for NP_001171563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AC023796, AK056255, AK128527, BU618839
    Consensus CDS
    CCDS53762.1
    UniProtKB/Swiss-Prot
    P54687
    Related
    ENSP00000339805.5, OTTHUMP00000240004, ENST00000342945.9, OTTHUMT00000402082
    Conserved Domains (2) summary
    PRK13357
    Location:8317
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:56314
    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_001178093.1NP_001171564.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 4

    See identical proteins and their annotated locations for NP_001171564.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC023796, AK056255, AK294879, BU618839, DC385021
    Consensus CDS
    CCDS53761.1
    UniProtKB/Swiss-Prot
    P54687
    Related
    ENSP00000443459.1, OTTHUMP00000240005, ENST00000539282.5, OTTHUMT00000402083
    Conserved Domains (2) summary
    PRK13357
    Location:44390
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:92387
    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 ...
  4. NM_001178094.1NP_001171565.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 5

    See identical proteins and their annotated locations for NP_001171565.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC023796, AC026310, AC092867, AK056255, BC033864, BU618839
    Consensus CDS
    CCDS53760.1
    UniProtKB/Swiss-Prot
    P54687
    Related
    ENSP00000440817.1, OTTHUMP00000240003, ENST00000538118.5, OTTHUMT00000402081
    Conserved Domains (2) summary
    PRK13357
    Location:31377
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:79374
    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 ...
  5. NM_005504.6NP_005495.2  branched-chain-amino-acid aminotransferase, cytosolic isoform 1

    See identical proteins and their annotated locations for NP_005495.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC023796, AK056255, BU618839, BX474651
    Consensus CDS
    CCDS44845.1
    UniProtKB/Swiss-Prot
    P54687
    UniProtKB/TrEMBL
    A0A024RAV0
    Related
    ENSP00000261192.7, OTTHUMP00000240002, ENST00000261192.11, OTTHUMT00000402080
    Conserved Domains (2) summary
    PRK13357
    Location:32378
    PRK13357; branched-chain amino acid aminotransferase; Provisional
    cd01557
    Location:80375
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    24810024..24949459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019768.2XP_016875257.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X1

RNA

  1. XR_001748835.2 RNA Sequence

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