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Aliases for BCKDK Gene

Aliases for BCKDK Gene

  • Branched Chain Ketoacid Dehydrogenase Kinase 2 3 5
  • BCKD-Kinase 3 4
  • EC 2.7.11.4 4 63
  • BCKDHKIN 3 4
  • Branched Chain Alpha-Ketoacid Dehydrogenase Kinase 3
  • Branched-Chain Alpha-Ketoacid Dehydrogenase Kinase 4
  • EC 2.7.11 63
  • BCKDKD 3
  • BDK 3

External Ids for BCKDK Gene

Previous GeneCards Identifiers for BCKDK Gene

  • GC16P030201
  • GC16P031616
  • GC16P031116
  • GC16P031155
  • GC16P031027
  • GC16P031024
  • GC16P031117
  • GC16P028680
  • GC16P031107
  • GC16P031114

Summaries for BCKDK Gene

Entrez Gene Summary for BCKDK Gene

  • The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for BCKDK Gene

BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) is a Protein Coding gene. Diseases associated with BCKDK include branched-chain ketoacid dehydrogenase kinase deficiency and autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PDK2.

UniProtKB/Swiss-Prot for BCKDK Gene

  • Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.

Gene Wiki entry for BCKDK Gene

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

Genomics for BCKDK Gene

Regulatory Elements for BCKDK Gene

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

ENSRs around BCKDK on UCSC Golden Path with GeneCards custom track

Genomic Location for BCKDK Gene

Chromosome:
16
Start:
31,106,107 bp from pter
End:
31,112,791 bp from pter
Size:
6,685 bases
Orientation:
Plus strand

Genomic View for BCKDK Gene

Genes around BCKDK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BCKDK Gene

Proteins for BCKDK Gene

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

    Protein Symbol:
    O14874-BCKD_HUMAN
    Recommended name:
    [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
    Protein Accession:
    O14874
    Secondary Accessions:
    • A8MY43
    • Q6FGL4
    • Q96G95
    • Q96IN5

    Protein attributes for BCKDK Gene

    Size:
    412 amino acids
    Molecular mass:
    46360 Da
    Quaternary structure:
    • Monomer.

    Alternative splice isoforms for BCKDK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCKDK Gene

Proteomics data for BCKDK Gene at MOPED

Selected DME Specific Peptides for BCKDK Gene

Post-translational modifications for BCKDK Gene

Antibody Products

Domains & Families for BCKDK Gene

Gene Families for BCKDK Gene

Suggested Antigen Peptide Sequences for BCKDK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14874

UniProtKB/Swiss-Prot:

BCKD_HUMAN :
  • Contains 1 histidine kinase domain.
  • Belongs to the PDK/BCKDK protein kinase family.
Domain:
  • Contains 1 histidine kinase domain.
Family:
  • Belongs to the PDK/BCKDK protein kinase family.
genes like me logo Genes that share domains with BCKDK: view

Function for BCKDK Gene

Molecular function for BCKDK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.

Enzyme Numbers (IUBMB) for BCKDK Gene

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

Human Phenotype Ontology for BCKDK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for BCKDK

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for BCKDK Gene

Localization for BCKDK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCKDK Gene

Mitochondrion matrix. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCKDK Gene COMPARTMENTS Subcellular localization image for BCKDK gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for BCKDK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex TAS 11839747
genes like me logo Genes that share ontologies with BCKDK: view

Pathways & Interactions for BCKDK Gene

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

Pathways by source for BCKDK Gene

SIGNOR curated interactions for BCKDK Gene

Inactivates:

Gene Ontology (GO) - Biological Process for BCKDK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,ISS --
genes like me logo Genes that share ontologies with BCKDK: view

Drugs & Compounds for BCKDK Gene

(4) Drugs for BCKDK Gene - From: HMDB, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Adenosine-5'-Diphosphate Monothiophosphate Experimental Pharma Target 0
2-Ketobutyric acid Experimental Pharma 0

(1) Additional Compounds for BCKDK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BCKDK: view

Transcripts for BCKDK Gene

Unigene Clusters for BCKDK Gene

Branched chain ketoacid dehydrogenase kinase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - - - - - - -
SP5: -
SP6:
SP7:
SP8: - -

Relevant External Links for BCKDK Gene

GeneLoc Exon Structure for
BCKDK
ECgene alternative splicing isoforms for
BCKDK

Expression for BCKDK Gene

mRNA expression in normal human tissues for BCKDK Gene

Protein differential expression in normal tissues from HIPED for BCKDK Gene

This gene is overexpressed in Salivary gland (6.9) and Gallbladder (6.3).

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



SOURCE GeneReport for Unigene cluster for BCKDK Gene Hs.513520

mRNA Expression by UniProt/SwissProt for BCKDK Gene

O14874-BCKD_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with BCKDK: view

Protein tissue co-expression partners for BCKDK Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCKDK Gene

Orthologs for BCKDK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCKDK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BCKDK 35
  • 90.05 (n)
  • 96.6 (a)
BCKDK 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCKDK 35
  • 90.7 (n)
  • 96.36 (a)
BCKDK 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bckdk 35
  • 87.94 (n)
  • 95.15 (a)
Bckdk 16
Bckdk 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCKDK 35
  • 99.6 (n)
  • 99.76 (a)
BCKDK 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bckdk 35
  • 87.62 (n)
  • 95.63 (a)
oppossum
(Monodelphis domestica)
Mammalia BCKDK 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCKDK 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCKDK 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bckdk 35
  • 75.92 (n)
  • 82.75 (a)
Str.19966 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.32994 35
zebrafish
(Danio rerio)
Actinopterygii bckdk 35
  • 72.85 (n)
  • 80.94 (a)
Dr.25159 35
bckdk 36
  • 74 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL116C 35
  • 45.34 (n)
  • 34.08 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04533g 35
  • 43.07 (n)
  • 33.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PKP1 35
  • 45.04 (n)
  • 31.91 (a)
PKP1 36
  • 23 (a)
OneToMany
PKP1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU04349 35
  • 50.05 (n)
  • 42.27 (a)
Species with no ortholog for BCKDK:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • 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)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCKDK Gene

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

Paralogs for BCKDK Gene

Paralogs for BCKDK Gene

(2) SIMAP similar genes for BCKDK Gene using alignment to 8 proteins:

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

Variants for BCKDK Gene

Sequence variations from dbSNP and Humsavar for BCKDK Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_069037 Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)
VAR_072184 Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)
VAR_072185 Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD)
rs14235 -- 31,110,472(+) GCCAC(A/G)CATCA reference, synonymous-codon
rs749767 -- 31,113,086(-) TGATA(C/T)CTTTG downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv905729 CNV Loss 21882294
dgv2670n71 CNV Loss 21882294
nsv457483 CNV Loss 19166990
nsv833193 CNV Gain+Loss 17160897
dgv2672n71 CNV Loss 21882294
nsv905743 CNV Loss 21882294

Variation tolerance for BCKDK Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCKDK Gene

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

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

Disorders for BCKDK Gene

MalaCards: The human disease database

(3) MalaCards diseases for BCKDK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BCKDK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCKD_HUMAN
  • Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]: A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. {ECO:0000269 PubMed:22956686, ECO:0000269 PubMed:24449431}. Note=The disease is caused by mutations affecting the gene represented in this entry. A diet enriched in branched amino acids (BCAAs) allows to normalize plasma BCAA levels. This suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation.

Relevant External Links for BCKDK

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

No data available for Genatlas for BCKDK Gene

Publications for BCKDK Gene

  1. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. (PMID: 24449431) Garcia-Cazorla A. … Agullo S.B. (Hum. Mutat. 2014) 3 4 67
  2. Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region. (PMID: 15302860) Muller E.A. … Danner D.J. (J. Biol. Chem. 2004) 3 23
  3. Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. (PMID: 1889817) Zneimer S.M. … Cox R.P. (Genomics 1991) 2 3
  4. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease. (PMID: 2403034) Harris R.A. … Crabb D.W. (Adv. Enzyme Regul. 1990) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for BCKDK Gene

Sources for BCKDK Gene

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