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Aliases for BCKDHA Gene

Aliases for BCKDHA Gene

  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide 2 3 5
  • 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
  • Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) 2
  • Branched Chain Keto Acid Dehydrogenase E1 Alpha Protein 3
  • Maple Syrup Urine Disease 2
  • MSUD1 3
  • 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 Valine, leucine and isoleucine degradation. GO annotations related to this gene include carboxy-lyase activity and alpha-ketoacid dehydrogenase 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

Promoters for BCKDHA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCKDHA on UCSC Golden Path with GeneCards custom track

Genomic Location for BCKDHA Gene

Chromosome:
19
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

Genes around BCKDHA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCKDHA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 224 and Lys 311
  • Modification sites at PhosphoSitePlus

Other Protein References for BCKDHA Gene

Antibody Products

Domains & Families for BCKDHA Gene

Protein Domains for BCKDHA Gene

Graphical View of Domain Structure for InterPro Entry

P12694

UniProtKB/Swiss-Prot:

ODBA_HUMAN :
  • Belongs to the BCKDHA family.
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:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA --
genes like me logo Genes that share ontologies with BCKDHA: view
genes like me logo Genes that share phenotypes with BCKDHA: view

Human Phenotype Ontology for BCKDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for BCKDHA

miRNA for BCKDHA Gene

miRTarBase miRNAs that target BCKDHA

No data available for Animal Models , Transcription Factor Targets 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
cytosol 3
lysosome 2
nucleus 2
peroxisome 2
vacuole 2
chloroplast 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCKDHA Gene

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

Pathways & Interactions for BCKDHA Gene

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

SIGNOR curated interactions for BCKDHA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for BCKDHA Gene

None

Drugs & Compounds for BCKDHA Gene

(6) Drugs for BCKDHA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Ketobutyric acid Experimental Pharma 0
alpha-ketoisovalerate Experimental Pharma 0
Ketoleucine Experimental Pharma 0
Potassium Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(41) Additional Compounds for BCKDHA Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-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:

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

Protein differential expression in normal tissues from HIPED for BCKDHA Gene

This gene is overexpressed in Salivary gland (8.8) and Stomach (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BCKDHA: view

Protein tissue co-expression partners for BCKDHA Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia BCKDHA 35
  • 88.81 (n)
  • 93.79 (a)
BCKDHA 36
  • 91 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BCKDHA 35
  • 88.84 (n)
  • 94.61 (a)
-- 36
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bckdha 35
  • 87.19 (n)
  • 92.58 (a)
Bckdha 16
Bckdha 36
  • 92 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia BCKDHA 35
  • 99.18 (n)
  • 99.1 (a)
BCKDHA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bckdha 35
  • 87.42 (n)
  • 93.71 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1886 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33155 35
zebrafish
(Danio rerio)
Actinopterygii bckdha 35
  • 72.44 (n)
  • 79.5 (a)
bckdha 36
  • 76 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6353 35
fruit fly
(Drosophila melanogaster)
Insecta CG8199 37
  • 60 (a)
CG8199 35
  • 61.88 (n)
  • 60.2 (a)
CG8199 36
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003136 35
  • 63.74 (n)
  • 59.3 (a)
worm
(Caenorhabditis elegans)
Secernentea Y39E4A.3 37
  • 56 (a)
Y39E4A.3 35
  • 60.8 (n)
  • 63.25 (a)
Y39E4A.3 36
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDA1 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G09300 35
  • 52.25 (n)
  • 47 (a)
soybean
(Glycine max)
eudicotyledons Gma.3429 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12244 35
rice
(Oryza sativa)
Liliopsida Os.17909 35
Os12g0183100 35
  • 54.28 (n)
  • 50.13 (a)
corn
(Zea mays)
Liliopsida Zm.9991 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3990 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09864 35
  • 57.64 (n)
  • 54.14 (a)
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
VAR_004968 Maple syrup urine disease 1A (MSUD1A)
VAR_004969 Maple syrup urine disease 1A (MSUD1A)
VAR_004970 Maple syrup urine disease 1A (MSUD1A)
VAR_004971 Maple syrup urine disease 1A (MSUD1A)
VAR_004972 Maple syrup urine disease 1A (MSUD1A)

Variation tolerance for BCKDHA Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(10) MalaCards diseases for BCKDHA Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
maple syrup urine disease, type ii
  • dihydrolipoamide dehydrogenase deficiency
intermediate maple syrup urine disease
  • intermediate bckd deficiency
classic maple syrup urine disease
  • classic bckd deficiency
thiamine-responsive maple syrup urine disease
  • thiamine-responsive bckd deficiency
intermittent maple syrup urine disease
  • intermittent bckd deficiency
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for BCKDHA

Genetic Association Database (GAD)
BCKDHA
Human Genome Epidemiology (HuGE) Navigator
BCKDHA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCKDHA
genes like me logo Genes that share disorders with BCKDHA: view

No data available for Genatlas for BCKDHA Gene

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 67
  2. 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
  3. Molecular genetics of maple syrup urine disease in the Turkish population. (PMID: 19480318) Gorzelany K. … Wendel U. (Turk. J. Pediatr. 2009) 3 23
  4. 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
  5. 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

Products for BCKDHA Gene

Sources for BCKDHA Gene

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