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BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide [ Homo sapiens (human) ]

Gene ID: 593, updated on 3-Mar-2019

Summary

Official Symbol
BCKDHAprovided by HGNC
Official Full Name
branched chain keto acid dehydrogenase E1, alpha polypeptideprovided by HGNC
Primary source
HGNC:HGNC:986
See related
Ensembl:ENSG00000248098 MIM:608348
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
MSU; MSUD1; OVD1A; BCKDE1A
Summary
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in heart (RPKM 29.4), kidney (RPKM 27.9) and 25 other tissues See more
Orthologs

Genomic context

See BCKDHA in Genome Data Viewer
Location:
19q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (41397789..41425005)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41903694..41930910)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene B9 domain containing 2 Neighboring gene transmembrane protein 91 Neighboring gene exosome component 5 Neighboring gene VISTA enhancer hs1948 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 Neighboring gene distal membrane arm assembly complex 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TMEM91

Homology

Clone Names

  • FLJ45695

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 
alpha-ketoacid dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
carboxy-lyase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial alpha-ketoglutarate dehydrogenase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial alpha-ketoglutarate dehydrogenase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Names
2-oxoisovalerate dehydrogenase (lipoamide)
BCKDH E1-alpha
branched chain keto acid dehydrogenase E1 alpha protein
branched-chain alpha-keto acid dehydrogenase E1 component alpha chain
NP_000700.1
NP_001158255.1

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_013004.1 RefSeqGene

    Range
    5001..32217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000709.4NP_000700.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000700.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK298188, BC023983, BQ018849
    Consensus CDS
    CCDS12581.1
    UniProtKB/Swiss-Prot
    P12694
    UniProtKB/TrEMBL
    A0A024R0K3
    Related
    ENSP00000269980.2, ENST00000269980.6
    Conserved Domains (2) summary
    PLN02374
    Location:17413
    PLN02374; pyruvate dehydrogenase (acetyl-transferring)
    pfam00676
    Location:106405
    E1_dh; Dehydrogenase E1 component
  2. NM_001164783.1NP_001158255.1  2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001158255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
    Source sequence(s)
    AB209828, AK298188, BI910860, BQ018849
    UniProtKB/Swiss-Prot
    P12694
    UniProtKB/TrEMBL
    Q59EI3
    Conserved Domains (2) summary
    PLN02374
    Location:17412
    PLN02374; pyruvate dehydrogenase (acetyl-transferring)
    pfam00676
    Location:106404
    E1_dh; Dehydrogenase E1 component

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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    41397789..41425005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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