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

    Gene ID: 586, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:976
    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
    NEW
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    Genomic context

    See BCAT1 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (24810024..24949340, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24679997..24819416, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (24962958..25102274, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369698 Neighboring gene ribosomal protein L21 pseudogene 102 Neighboring gene uncharacterized LOC124902897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6101 Neighboring gene RNA, 7SL, cytoplasmic 38, pseudogene Neighboring gene uncharacterized LOC105369699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6104 Neighboring gene uncharacterized LOC124902898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:25055463-25055964 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:25057459-25058181 Neighboring gene Sharpr-MPRA regulatory region 2351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:25078354-25078971 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:25080207-25080822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4292 Neighboring gene defender against cell death 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6110 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686E12175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-isoleucine-2-oxoglutarate transaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables L-leucine-2-oxoglutarate transaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables L-valine-2-oxoglutarate transaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables branched-chain-amino-acid transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in L-leucine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in L-valine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in branched-chain amino acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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_001400015.1
    NP_001400016.1
    NP_001400017.1
    NP_001400018.1
    NP_001400019.1
    NP_001400020.1
    NP_001400021.1
    NP_001400022.1
    NP_001400023.1
    NP_001400024.1
    NP_001400025.1
    NP_001400026.1
    NP_001400027.1
    NP_001400028.1
    NP_001400029.1
    NP_001400030.1
    NP_001400031.1
    NP_001400032.1
    NP_001400033.1
    NP_001400034.1
    NP_001400035.1
    NP_001400036.1
    NP_005495.2
    XP_047285233.1
    XP_047285234.1
    XP_047285235.1
    XP_047285236.1
    XP_054228752.1
    XP_054228753.1
    XP_054228754.1
    XP_054228755.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008170.2 RefSeqGene

      Range
      5274..144351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178091.2NP_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, ENST00000539780.5
      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_001178092.2NP_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, ENST00000342945.9
      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_001178093.2NP_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, ENST00000539282.5
      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_001178094.2NP_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, ENST00000538118.5
      Conserved Domains (1) summary
      PRK13357
      Location:31377
      PRK13357; branched-chain amino acid aminotransferase; Provisional
    5. NM_001413086.1NP_001400015.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    6. NM_001413087.1NP_001400016.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    7. NM_001413088.1NP_001400017.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    8. NM_001413089.1NP_001400018.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    9. NM_001413090.1NP_001400019.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    10. NM_001413091.1NP_001400020.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    11. NM_001413092.1NP_001400021.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    12. NM_001413093.1NP_001400022.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    13. NM_001413094.1NP_001400023.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    14. NM_001413095.1NP_001400024.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    15. NM_001413096.1NP_001400025.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    16. NM_001413097.1NP_001400026.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    17. NM_001413098.1NP_001400027.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    18. NM_001413099.1NP_001400028.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    19. NM_001413100.1NP_001400029.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    20. NM_001413101.1NP_001400030.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    21. NM_001413102.1NP_001400031.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    22. NM_001413103.1NP_001400032.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    23. NM_001413104.1NP_001400033.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    24. NM_001413105.1NP_001400034.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    25. NM_001413106.1NP_001400035.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    26. NM_001413107.1NP_001400036.1  branched-chain-amino-acid aminotransferase, cytosolic isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    27. NM_005504.7NP_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) encodes isoform 1.
      Source sequence(s)
      AC023796, AK056255, BU618839, BX474651
      Consensus CDS
      CCDS44845.1
      UniProtKB/Swiss-Prot
      B3KY27, B7Z2M5, B7Z5L0, F5H5E4, P54687, Q68DQ7, Q96MY9
      Related
      ENSP00000261192.7, ENST00000261192.12
      Conserved Domains (1) summary
      PRK13357
      Location:32378
      PRK13357; branched-chain amino acid aminotransferase; Provisional

    RNA

    1. NR_182105.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    2. NR_182106.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    3. NR_182107.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    4. NR_182108.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867
    5. NR_182109.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC023796, AC026310, AC092867

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      24810024..24949340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429279.1XP_047285235.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X3

    2. XM_047429280.1XP_047285236.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X4

    3. XM_047429278.1XP_047285234.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X2

      UniProtKB/Swiss-Prot
      B3KY27, B7Z2M5, B7Z5L0, F5H5E4, P54687, Q68DQ7, Q96MY9
    4. XM_047429277.1XP_047285233.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X1

    RNA

    1. XR_007063110.1 RNA Sequence

    2. XR_007063108.1 RNA Sequence

    3. XR_007063109.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      24679997..24819416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372779.1XP_054228754.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X3

    2. XM_054372780.1XP_054228755.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X4

    3. XM_054372778.1XP_054228753.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X2

      UniProtKB/Swiss-Prot
      B3KY27, B7Z2M5, B7Z5L0, F5H5E4, P54687, Q68DQ7, Q96MY9
    4. XM_054372777.1XP_054228752.1  branched-chain-amino-acid aminotransferase, cytosolic isoform X1

    RNA

    1. XR_008488658.1 RNA Sequence

    2. XR_008488656.1 RNA Sequence

    3. XR_008488657.1 RNA Sequence