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

Gene ID: 586, updated on 1-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (24810024..24949340, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24679997..24819416, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (24962958..25102035, 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 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
 
Process Evidence Code Pubs
involved_in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
involved_in branched-chain amino acid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
involved_in leucine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in valine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
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)

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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_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_2023_10

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