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Aliases for BCKDHB Gene

Aliases for BCKDHB Gene

  • Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide 2 3 5
  • Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain 3 4
  • BCKDH E1-Beta 3 4
  • EC 1.2.4.4 4 63
  • BCKDE1B 3 4
  • Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit 3
  • Testis Secretory Sperm-Binding Protein Li 240mP 3
  • E1b-Beta Subunit Of The Branched-Chain Complex 3
  • Maple Syrup Urine Disease 2
  • E1B 3

External Ids for BCKDHB Gene

Previous GeneCards Identifiers for BCKDHB Gene

  • GC06P080759
  • GC06P080811
  • GC06P080873
  • GC06P078039
  • GC06P080816

Summaries for BCKDHB Gene

Entrez Gene Summary for BCKDHB Gene

  • 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]

GeneCards Summary for BCKDHB Gene

BCKDHB (Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHB include maple syrup urine disease, type ii and classic maple syrup urine disease. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include protein complex binding and alpha-ketoacid dehydrogenase activity. An important paralog of this gene is PDHB.

UniProtKB/Swiss-Prot for BCKDHB 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 BCKDHB Gene

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

Genomics for BCKDHB Gene

Regulatory Elements for BCKDHB Gene

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

ENSRs around BCKDHB on UCSC Golden Path with GeneCards custom track

Genomic Location for BCKDHB Gene

Chromosome:
6
Start:
80,106,627 bp from pter
End:
80,346,270 bp from pter
Size:
239,644 bases
Orientation:
Plus strand

Genomic View for BCKDHB Gene

Genes around BCKDHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCKDHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCKDHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCKDHB Gene

Proteins for BCKDHB Gene

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

    Protein Symbol:
    P21953-ODBB_HUMAN
    Recommended name:
    2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
    Protein Accession:
    P21953
    Secondary Accessions:
    • Q5T2J3
    • Q9BQL0

    Protein attributes for BCKDHB Gene

    Size:
    392 amino acids
    Molecular mass:
    43122 Da
    Quaternary structure:
    • Heterotetramer of 2 alpha and 2 beta chains.

    Three dimensional structures from OCA and Proteopedia for BCKDHB Gene

    Alternative splice isoforms for BCKDHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCKDHB Gene

Proteomics data for BCKDHB Gene at MOPED

Selected DME Specific Peptides for BCKDHB Gene

Post-translational modifications for BCKDHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCKDHB Gene

Antibody Products

Domains & Families for BCKDHB Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCKDHB: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BCKDHB Gene

Function for BCKDHB Gene

Molecular function for BCKDHB Gene

GENATLAS Biochemistry:
branched chain keto acid dehydrogenase E1,beta 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 BCKDHB Gene

Gene Ontology (GO) - Molecular Function for BCKDHB 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 BCKDHB: view
genes like me logo Genes that share phenotypes with BCKDHB: view

Human Phenotype Ontology for BCKDHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for BCKDHB Gene

miRTarBase miRNAs that target BCKDHB

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BCKDHB Gene

Localization for BCKDHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCKDHB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCKDHB Gene COMPARTMENTS Subcellular localization image for BCKDHB gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex IMP 2022752
genes like me logo Genes that share ontologies with BCKDHB: view

Pathways & Interactions for BCKDHB Gene

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

Gene Ontology (GO) - Biological Process for BCKDHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with BCKDHB: view

No data available for SIGNOR curated interactions for BCKDHB Gene

Drugs & Compounds for BCKDHB Gene

(6) Drugs for BCKDHB Gene - From: HMDB and Novoseek

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

(40) Additional Compounds for BCKDHB 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 BCKDHB: view

Transcripts for BCKDHB Gene

Unigene Clusters for BCKDHB Gene

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

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

No ASD Table

Relevant External Links for BCKDHB Gene

GeneLoc Exon Structure for
BCKDHB
ECgene alternative splicing isoforms for
BCKDHB

Expression for BCKDHB Gene

mRNA expression in normal human tissues for BCKDHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BCKDHB Gene

This gene is overexpressed in Heart (10.6), Liver (8.8), and Islet of Langerhans (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCKDHB Gene



SOURCE GeneReport for Unigene cluster for BCKDHB Gene Hs.654441

genes like me logo Genes that share expression patterns with BCKDHB: view

Protein tissue co-expression partners for BCKDHB Gene

- Elite partner

Primer Products

In Situ Assay Products

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

Orthologs for BCKDHB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCKDHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCKDHB 36
  • 100 (a)
OneToOne
BCKDHB 35
  • 99.49 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia BCKDHB 36
  • 56 (a)
OneToOne
BCKDHB 35
  • 89.37 (n)
  • 93.62 (a)
dog
(Canis familiaris)
Mammalia BCKDHB 35
  • 90.87 (n)
  • 93.28 (a)
BCKDHB 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bckdhb 16
Bckdhb 35
  • 88.41 (n)
  • 97.2 (a)
Bckdhb 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCKDHB 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCKDHB 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bckdhb 35
  • 86.92 (n)
  • 92.31 (a)
chicken
(Gallus gallus)
Aves BCKDHB 35
  • 78.89 (n)
  • 86.28 (a)
BCKDHB 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCKDHB 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13025 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bckdhb 35
  • 76.45 (n)
  • 90.12 (a)
Str.7016 35
zebrafish
(Danio rerio)
Actinopterygii bckdhb 35
  • 73.99 (n)
  • 83.94 (a)
bckdhb 36
  • 66 (a)
OneToMany
BCKDHB (2 of 2) 36
  • 84 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007531 35
  • 61.02 (n)
  • 65.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17691 36
  • 61 (a)
OneToOne
CG17691 37
  • 66 (a)
CG17691 35
  • 61.03 (n)
  • 65.58 (a)
worm
(Caenorhabditis elegans)
Secernentea tag-173 36
  • 63 (a)
OneToOne
F27D4.5 37
  • 65 (a)
tag-173 35
  • 64.46 (n)
  • 66.28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDB1 36
  • 32 (a)
OneToMany
soybean
(Glycine max)
eudicotyledons Gma.1242 35
thale cress
(Arabidopsis thaliana)
eudicotyledons BCDH BETA1 35
  • 63.57 (n)
  • 67.8 (a)
corn
(Zea mays)
Liliopsida Zm.4420 35
rice
(Oryza sativa)
Liliopsida Os.11982 35
Os07g0170100 35
  • 61.04 (n)
  • 64.11 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2558 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03913 35
  • 54.91 (n)
  • 54.05 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11305 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToOne
Species with no ortholog for BCKDHB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for BCKDHB Gene

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

Paralogs for BCKDHB Gene

Paralogs for BCKDHB Gene

(1) SIMAP similar genes for BCKDHB Gene using alignment to 2 proteins:

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

Variants for BCKDHB Gene

Sequence variations from dbSNP and Humsavar for BCKDHB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_004974 Maple syrup urine disease 1B (MSUD1B)
VAR_024851 Maple syrup urine disease 1B (MSUD1B)
VAR_024852 Maple syrup urine disease 1B (MSUD1B)
rs35470366 - 80,106,815(-) CGACA(A/G)TCGCG intron-variant, reference, missense
VAR_068348 Maple syrup urine disease 1B (MSUD1B)

Structural Variations from Database of Genomic Variants (DGV) for BCKDHB Gene

Variant ID Type Subtype PubMed ID
nsv5371 CNV Insertion 18451855
nsv830708 CNV Gain 17160897
nsv524214 CNV Gain 19592680
nsv886309 CNV Gain 21882294
nsv886310 CNV Gain 21882294
esv2663059 CNV Deletion 23128226
esv21744 CNV Gain 19812545
nsv463907 CNV Loss 19166990

Variation tolerance for BCKDHB Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCKDHB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCKDHB Gene

Disorders for BCKDHB Gene

MalaCards: The human disease database

(12) MalaCards diseases for BCKDHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
maple syrup urine disease, type ii
  • maple syrup urine disease, type ib
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
immunodeficiency due to purine nucleoside phosphorylase deficiency
  • purine nucleoside phosphorylase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ODBB_HUMAN
  • Maple syrup urine disease 1B (MSUD1B) [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:11509994, ECO:0000269 PubMed:22326532, ECO:0000269 PubMed:8161368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BCKDHB

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

No data available for Genatlas for BCKDHB Gene

Publications for BCKDHB Gene

  1. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. (PMID: 11509994) Edelmann L. … Diaz G.A. (Am. J. Hum. Genet. 2001) 3 4 23 48 67
  2. Molecular genetics of maple syrup urine disease in the Turkish population. (PMID: 19480318) Gorzelany K. … Wendel U. (Turk. J. Pediatr. 2009) 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. 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
  5. The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism. (PMID: 17329260) Li J. … Chuang D.T. (J. Biol. Chem. 2007) 3 23

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