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Aliases for BCKDHA Gene

Aliases for BCKDHA Gene

  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide 2 3
  • Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Alpha Chain 3 4
  • 2-Oxoisovalerate Dehydrogenase (Lipoamide) 2 3
  • BCKDH E1-Alpha 3 4
  • EC 1.2.4.4 4 63
  • BCKDE1A 3 4
  • MSUD1 3 6
  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) 2
  • 2-Oxoisovalerate Dehydrogenase Subunit Alpha, Mitochondrial 3
  • Maple Syrup Urine Disease 2
  • OVD1A 3
  • MSU 3

External Ids for BCKDHA Gene

Previous HGNC Symbols for BCKDHA Gene

  • OVD1A

Previous GeneCards Identifiers for BCKDHA Gene

  • GC19P042543
  • GC19P042295
  • GC19P046579
  • GC19P046595
  • GC19P041903
  • GC19P038335
  • GC19P041857
  • GC19P041884

Summaries for BCKDHA Gene

Entrez Gene Summary for BCKDHA Gene

  • 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]

GeneCards Summary for BCKDHA Gene

BCKDHA (Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHA include maple syrup urine disease, type ii and intermediate maple syrup urine disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include carboxy-lyase activity and 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. An important paralog of this gene is PDHA2.

UniProtKB/Swiss-Prot for BCKDHA Gene

  • The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)

Gene Wiki entry for BCKDHA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCKDHA Gene

Genomics for BCKDHA Gene

Regulatory Elements for BCKDHA Gene

Genomic Location for BCKDHA Gene

Start:
41,397,460 bp from pter
End:
41,431,345 bp from pter
Size:
33,886 bases
Orientation:
Plus strand

Genomic View for BCKDHA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCKDHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCKDHA Gene

Proteins for BCKDHA Gene

  • Protein details for BCKDHA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12694-ODBA_HUMAN
    Recommended name:
    2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
    Protein Accession:
    P12694
    Secondary Accessions:
    • B4DP47
    • E7EW46
    • Q16034
    • Q16472

    Protein attributes for BCKDHA Gene

    Size:
    445 amino acids
    Molecular mass:
    50471 Da
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    • Heterotetramer of alpha and beta chains.
    Miscellaneous:
    • Bound potassium ions stabilize the protein structure
    SequenceCaution:
    • Sequence=AAB59549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCKDHA Gene

    Alternative splice isoforms for BCKDHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCKDHA Gene

Proteomics data for BCKDHA Gene at MOPED

Post-translational modifications for BCKDHA Gene

  • Ubiquitination at Lys224, Lys311, and Lys356
  • Modification sites at PhosphoSitePlus

Other Protein References for BCKDHA Gene

Domains for BCKDHA Gene

Protein Domains for BCKDHA Gene

Graphical View of Domain Structure for InterPro Entry

P12694

UniProtKB/Swiss-Prot:

ODBA_HUMAN :
  • P12694
Family:
  • Belongs to the BCKDHA family.
genes like me logo Genes that share domains with BCKDHA: view

No data available for Gene Families for BCKDHA Gene

Function for BCKDHA Gene

Molecular function for BCKDHA Gene

GENATLAS Biochemistry: branched chain keto acid dehydrogenase E1,alpha polypeptide,inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity: 3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)
UniProtKB/Swiss-Prot Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)

Enzyme Numbers (IUBMB) for BCKDHA Gene

Gene Ontology (GO) - Molecular Function for BCKDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003826 alpha-ketoacid dehydrogenase activity IDA 7883996
GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA --
GO:0005515 protein binding IPI 10745006
GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor --
GO:0016831 carboxy-lyase activity TAS 11839747
genes like me logo Genes that share ontologies with BCKDHA: view

Phenotypes for BCKDHA Gene

genes like me logo Genes that share phenotypes with BCKDHA: view

Animal Model Products

CRISPR Products

miRNA for BCKDHA Gene

miRTarBase miRNAs that target BCKDHA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCKDHA

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for BCKDHA Gene

Localization for BCKDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCKDHA Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCKDHA Gene COMPARTMENTS Subcellular localization image for BCKDHA gene
Compartment Confidence
mitochondrion 5
chloroplast 2
cytosol 2
extracellular 2
peroxisome 2
lysosome 1
nucleus 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BCKDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS 11839747
GO:0005759 mitochondrial matrix TAS --
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IDA 7883996
genes like me logo Genes that share ontologies with BCKDHA: view

Pathways for BCKDHA Gene

genes like me logo Genes that share pathways with BCKDHA: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BCKDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BCKDHA: view

Compounds for BCKDHA Gene

(47) HMDB Compounds for BCKDHA Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with BCKDHA: view

Transcripts for BCKDHA Gene

Unigene Clusters for BCKDHA Gene

Branched chain keto acid dehydrogenase E1, alpha polypeptide:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCKDHA

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCKDHA Gene

No ASD Table

Relevant External Links for BCKDHA Gene

GeneLoc Exon Structure for
BCKDHA
ECgene alternative splicing isoforms for
BCKDHA

Expression for BCKDHA Gene

mRNA expression in normal human tissues for BCKDHA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BCKDHA Gene

SOURCE GeneReport for Unigene cluster for BCKDHA Gene Hs.433307

genes like me logo Genes that share expressions with BCKDHA: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BCKDHA Gene

Orthologs for BCKDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCKDHA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCKDHA 35
  • 99.18 (n)
  • 99.1 (a)
BCKDHA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCKDHA 35
  • 88.81 (n)
  • 93.79 (a)
BCKDHA 36
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
BCKDHA 35
  • 88.84 (n)
  • 94.61 (a)
mouse
(Mus musculus)
Mammalia Bckdha 35
  • 87.19 (n)
  • 92.58 (a)
Bckdha 16
Bckdha 36
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bckdha 35
  • 87.42 (n)
  • 93.71 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.33155 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1886 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6353 35
zebrafish
(Danio rerio)
Actinopterygii bckdha 35
  • 72.44 (n)
  • 79.5 (a)
bckdha 36
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003136 35
  • 63.74 (n)
  • 59.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8199 35
  • 61.88 (n)
  • 60.2 (a)
CG8199 36
  • 54 (a)
OneToMany
CG8199 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39E4A.3 35
  • 60.8 (n)
  • 63.25 (a)
Y39E4A.3 36
  • 57 (a)
OneToMany
Y39E4A.3 37
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 36
  • 24 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12244 35
soybean
(Glycine max)
eudicotyledons Gma.3429 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G09300 35
  • 52.25 (n)
  • 47 (a)
corn
(Zea mays)
Liliopsida Zm.9991 35
rice
(Oryza sativa)
Liliopsida Os.17909 35
Os12g0183100 35
  • 54.28 (n)
  • 50.13 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09864 35
  • 57.64 (n)
  • 54.14 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3990 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5820 36
  • 51 (a)
OneToMany
Species with no ortholog for BCKDHA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCKDHA Gene

ENSEMBL:
Gene Tree for BCKDHA (if available)
TreeFam:
Gene Tree for BCKDHA (if available)

Paralogs for BCKDHA Gene

Paralogs for BCKDHA Gene

genes like me logo Genes that share paralogs with BCKDHA: view

Variants for BCKDHA Gene

Sequence variations from dbSNP and Humsavar for BCKDHA Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs4674 other 41,424,491(-) AAGAG(C/T)AGGTT reference, synonymous-codon
rs166925 -- 41,420,193(-) GCAGT(A/G)GGCAT intron-variant
rs284647 -- 41,419,506(-) TGCGA(C/T)AGCAC intron-variant
rs284648 -- 41,420,885(-) GGAGG(A/G)CAGGA intron-variant
rs284649 -- 41,420,933(-) GCAAA(A/G)AAGCC intron-variant

Relevant External Links for BCKDHA Gene

HapMap Linkage Disequilibrium report
BCKDHA
Human Gene Mutation Database (HGMD)
BCKDHA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCKDHA Gene

Disorders for BCKDHA Gene

(1) OMIM Diseases for BCKDHA Gene (608348)

UniProtKB/Swiss-Prot

ODBA_HUMAN
  • Maple syrup urine disease 1A (MSUD1A) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269 PubMed:1867199, ECO:0000269 PubMed:1885764, ECO:0000269 PubMed:2060625, ECO:0000269 PubMed:21844576, ECO:0000269 PubMed:2241958, ECO:0000269 PubMed:2703538, ECO:0000269 PubMed:7883996, ECO:0000269 PubMed:8037208, ECO:0000269 PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for BCKDHA Gene

(1) Novoseek inferred disease relationships for BCKDHA Gene

Disease -log(P) Hits PubMed IDs
maple syrup urine disease 95.4 5

Relevant External Links for BCKDHA

GeneTests
BCKDHA
GeneReviews
BCKDHA
Genetic Association Database (GAD)
BCKDHA
Human Genome Epidemiology (HuGE) Navigator
BCKDHA
genes like me logo Genes that share disorders with BCKDHA: view

Publications for BCKDHA Gene

  1. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. (PMID: 8037208) Chuang J.L. … Chuang D.T. (Am. J. Hum. Genet. 1994) 3 4 23
  2. Description of the mutations in 15 subjects with variant forms of maple syrup urine disease. (PMID: 17922217) Flaschker N. … Wendel U. (J. Inherit. Metab. Dis. 2007) 3 23
  3. Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. (PMID: 18378174) Quental S. … Prata M.J. (Mol. Genet. Metab. 2008) 3 23
  4. Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. (PMID: 19456321) Quental S. … Prata M.J. (Ann. Hum. Genet. 2009) 3 23
  5. Molecular genetics of maple syrup urine disease in the Turkish population. (PMID: 19480318) Gorzelany K. … Wendel U. (Turk. J. Pediatr. 2009) 3 23

Products for BCKDHA Gene

Sources for BCKDHA Gene

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