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    BCKDHB branched chain keto acid dehydrogenase E1 subunit beta [ Homo sapiens (human) ]

    Gene ID: 594, updated on 28-Oct-2024

    Summary

    Official Symbol
    BCKDHBprovided by HGNC
    Official Full Name
    branched chain keto acid dehydrogenase E1 subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:987
    See related
    Ensembl:ENSG00000083123 MIM:248611; AllianceGenome:HGNC:987
    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
    E1B; OVD1B; MSUD1B; BCKDE1B; BCKDH E1-beta
    Summary
    This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in liver (RPKM 2.7), fat (RPKM 2.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BCKDHB in Genome Data Viewer
    Location:
    6q14.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (80106610..80466676)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (81315017..81677450)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80816327..81172940)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 21 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:80816184-80816684 Neighboring gene adenylate kinase 4 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:80921809-80922003 Neighboring gene ribosomal protein L17 pseudogene 25 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:81148056-81149255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:81193272-81193889 Neighboring gene uncharacterized LOC112267962 Neighboring gene ribosomal protein SA pseudogene 72 Neighboring gene NANOG hESC enhancer GRCh37_chr6:81225104-81225623 Neighboring gene Sharpr-MPRA regulatory region 6183 Neighboring gene uncharacterized LOC105377869 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:81245601-81246800 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:81257567-81258766

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17880, FLJ44134, DKFZp686A09102

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in branched-chain amino acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in branched-chain amino acid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Names
    E1b-beta subunit of the branched-chain complex
    branched chain alpha-ketoacid dehydrogenase E1-beta subunit
    branched chain keto acid dehydrogenase E1 beta
    branched chain keto acid dehydrogenase E1, beta polypeptide
    branched-chain alpha-keto acid dehydrogenase E1 component beta chain
    testis secretory sperm-binding protein Li 240mP
    NP_000047.1
    NP_001305904.1
    NP_001410964.1
    NP_001410965.1
    NP_001410966.1
    NP_001410967.1
    NP_001410968.1
    NP_001410969.1
    NP_001410970.1
    NP_001410971.1
    NP_001410972.1
    NP_001410973.1
    NP_001410974.1
    NP_898871.1
    XP_005248813.1
    XP_047275163.1
    XP_047275166.1
    XP_047275167.1
    XP_047275168.1
    XP_047275169.1
    XP_047275170.1
    XP_054212115.1
    XP_054212118.1
    XP_054212120.1
    XP_054212122.1

    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_009775.3 RefSeqGene

      Range
      5063..244662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000056.5NP_000047.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000047.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR compared to transcript variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      CA447889, U50708
      Consensus CDS
      CCDS4994.1
      UniProtKB/Swiss-Prot
      P21953, Q5T2J3, Q9BQL0
      UniProtKB/TrEMBL
      A0A0K2GN21, A0A140VKB3
      Related
      ENSP00000348880.5, ENST00000356489.9
      Conserved Domains (1) summary
      PTZ00182
      Location:66390
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    2. NM_001318975.1NP_001305904.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 3 and 13 both encode the same isoform (2).
      Source sequence(s)
      AK304353, AL049696, CA447889, DC422376, M55575
      UniProtKB/TrEMBL
      B4E2N3, B7ZB80
      Conserved Domains (1) summary
      PTZ00182
      Location:1320
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    3. NM_001424035.1NP_001410964.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (3).
      Source sequence(s)
      AL049696, AL359715, AL391595
    4. NM_001424036.1NP_001410965.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL359715, AL391595
      UniProtKB/Swiss-Prot
      P21953, Q5T2J3, Q9BQL0
      UniProtKB/TrEMBL
      A0A140VKB3
    5. NM_001424037.1NP_001410966.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL359715, AL391595
    6. NM_001424038.1NP_001410967.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    7. NM_001424039.1NP_001410968.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    8. NM_001424040.1NP_001410969.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    9. NM_001424041.1NP_001410970.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    10. NM_001424042.1NP_001410971.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    11. NM_001424043.1NP_001410972.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
      UniProtKB/TrEMBL
      B7ZB80
    12. NM_001424044.1NP_001410973.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AL391595
    13. NM_001424045.1NP_001410974.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AL391595
      Related
      ENSP00000358775.4, ENST00000369760.8
    14. NM_183050.4NP_898871.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_898871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL049696, CA447889, DC372349, M55575
      Consensus CDS
      CCDS4994.1
      UniProtKB/Swiss-Prot
      P21953, Q5T2J3, Q9BQL0
      UniProtKB/TrEMBL
      A0A0K2GN21, A0A140VKB3
      Related
      ENSP00000318351.5, ENST00000320393.9
      Conserved Domains (1) summary
      PTZ00182
      Location:66390
      PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional

    RNA

    1. NR_134945.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL049696, BC034481, CA447889
    2. NR_187561.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    3. NR_187562.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    4. NR_187563.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    5. NR_187564.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595
    6. NR_187565.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL049696, AL391595

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      80106610..80466676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419211.1XP_047275167.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X9

    2. XM_047419212.1XP_047275168.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X9

    3. XM_047419210.1XP_047275166.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X8

    4. XM_047419207.1XP_047275163.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P21953, Q5T2J3, Q9BQL0
      UniProtKB/TrEMBL
      A0A140VKB3
    5. XM_005248756.6XP_005248813.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A0K2GN21
      Conserved Domains (2) summary
      cd07036
      Location:75241
      TPP_PYR_E1-PDHc-beta_like; Pyrimidine (PYR) binding domain of the beta subunits of the E1 components of human pyruvate dehydrogenase complex (E1- PDHc) and related proteins
      pfam02780
      Location:262346
      Transketolase_C; Transketolase, C-terminal domain
    6. XM_047419213.1XP_047275169.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X5

    7. XM_047419214.1XP_047275170.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X7

      UniProtKB/TrEMBL
      B7ZB80

    RNA

    1. XR_001743546.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      81315017..81677450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356140.1XP_054212115.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P21953, Q5T2J3, Q9BQL0
      UniProtKB/TrEMBL
      A0A140VKB3
    2. XM_054356143.1XP_054212118.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

    3. XM_054356145.1XP_054212120.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X5

    4. XM_054356147.1XP_054212122.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X7

      UniProtKB/TrEMBL
      B7ZB80

    RNA

    1. XR_008487369.1 RNA Sequence

    2. XR_008487371.1 RNA Sequence

    3. XR_008487372.1 RNA Sequence

    4. XR_008487373.1 RNA Sequence

    5. XR_008487370.1 RNA Sequence