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

Gene ID: 594, updated on 27-Dec-2018

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
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; 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

Genomic context

See BCKDHB in Genome Data Viewer
Location:
6q14.1
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (80106610..80469088)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (80816344..81055987)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 21 pseudogene Neighboring gene adenylate kinase 4 pseudogene 5 Neighboring gene ribosomal protein L17 pseudogene 25 Neighboring gene uncharacterized LOC112267962 Neighboring gene ribosomal protein SA pseudogene 72 Neighboring gene uncharacterized LOC105377869

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Maple syrup urine disease
MedGen: C0024776 OMIM: 248600 GeneReviews: Maple Syrup Urine Disease
Compare labs
Maple syrup urine disease type 1B
MedGen: C1855370 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17880, FLJ44134, DKFZp686A09102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA
Inferred from Electronic Annotation
more info
 
alpha-ketoacid dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to alpha-ketoacid dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
branched-chain amino acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
branched-chain amino acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial alpha-ketoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial alpha-ketoglutarate dehydrogenase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 

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 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_898871.1
XP_005248813.1
XP_011534325.1
XP_011534326.1
XP_011534327.1

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_009775.2 RefSeqGene

    Range
    4984..244644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000056.4NP_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, DC422376, U50708
    Consensus CDS
    CCDS4994.1
    UniProtKB/Swiss-Prot
    P21953
    UniProtKB/TrEMBL
    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.
    Source sequence(s)
    AK304353, AL049696, CA447889, DC422376, M55575
    UniProtKB/Swiss-Prot
    P21953
    UniProtKB/TrEMBL
    B4E2N3, B7ZB80
    Conserved Domains (3) summary
    cd07036
    Location:5171
    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
    PTZ00182
    Location:1320
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional
    pfam02780
    Location:192311
    Transketolase_C; Transketolase, C-terminal domain
  3. 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
    UniProtKB/TrEMBL
    A0A140VKB3
    Related
    ENSP00000318351.5, ENST00000320393.8
    Conserved Domains (1) summary
    PTZ00182
    Location:66390
    PTZ00182; 3-methyl-2-oxobutanate dehydrogenase; Provisional

RNA

  1. NR_134945.1 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, DC422376

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    80106610..80469088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536024.3XP_011534326.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl27364
    Location:66347
    Transketolase_C; Transketolase, C-terminal domain
  2. XM_005248756.5XP_005248813.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X1

    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
  3. XM_011536025.3XP_011534327.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl27364
    Location:66346
    Transketolase_C; Transketolase, C-terminal domain
  4. XM_011536023.3XP_011534325.1  2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl27364
    Location:66358
    Transketolase_C; Transketolase, C-terminal domain

RNA

  1. XR_001743549.2 RNA Sequence

  2. XR_001743547.2 RNA Sequence

  3. XR_001743548.2 RNA Sequence

  4. XR_002956292.1 RNA Sequence

  5. XR_001743546.2 RNA Sequence

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