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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] See more...
Aliases for BCKDK Gene
Aliases for BCKDK Gene
External Ids for BCKDK Gene
- HGNC: 16902
- Entrez Gene: 10295
- Ensembl: ENSG00000103507
- OMIM: 614901
- UniProtKB: O14874
Previous GeneCards Identifiers for BCKDK Gene
- GC16P030201
- GC16P031616
- GC16P031116
- GC16P031155
- GC16P031027
- GC16P031024
- GC16P031117
- GC16P028680
- GC16P031107
- GC16P031114
- GC16P031302
- GC16P031325
- GC16P031329
- GC16P031414
- GC16P031141
- GC16P031152
- GC16P031169
- GC16P031195
- GC16P031233
- GC16P031246
- GC16P031260
- GC16P031286
Summaries 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 Keto Acid Dehydrogenase Kinase) is a Protein Coding gene. Diseases associated with BCKDK include Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency and Maple Syrup Urine Disease. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PDK1.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for BCKDK Gene
- HGNC(16902)
- Entrez Gene(10295)
- Ensembl(ENSG00000103507)
- OMIM(614901)
- UniProtKB(O14874)
- Open Targets Platform(ENSG00000103507)
- Monarch Initiative
- Search for BCKDK at DataMed
- Search for BCKDK at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCKDK Gene
Genomics for BCKDK Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BCKDK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BCKDK on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCKDK
- Top Transcription factor binding sites by QIAGEN in the BCKDK gene promoter:
-
- AML1a
- C/EBPbeta
- COMP1
- E47
- Ik-1
- Pax-5
- SRF
- SRF (504 AA)
- Tal-1
Genomic Locations for BCKDK Gene
Genomic Locations for BCKDK Gene
- chr16:31,106,107-31,117,651
- (GRCh38/hg38)
- Size:
- 11,545 bases
- Orientation:
- Plus strand
- chr16:31,117,428-31,124,112
- (GRCh37/hg19)
- 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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
BCKDK Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A8MY43
- Q6FGL4
- Q96G95
- Q96IN5
Protein attributes for BCKDK Gene
- Size:
- 412 amino acids
- Molecular mass:
- 46360 Da
- Quaternary structure:
-
- Monomer.
Protein Expression for BCKDK Gene
Selected DME Specific Peptides for BCKDK Gene
- O14874:
-
- YCQLVRQLLDDHKDVVTLLAEGLRESRK
- KNAMRAT
Post-translational modifications for BCKDK Gene
- Autophosphorylated.
-
Ubiquitination at Lys48
- NX_O14874 (NX_O14874-1)
- Modification sites at PhosphoSitePlus
Other Protein References for BCKDK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences BCKDK Antibody
- GeneTex Anti-BCKDK antibody [N1C2] and Anti-BCKDK antibody [N2C3]
-
Custom Antibody ServicesOriGene Antibodies for BCKDK
- Novus Biologicals Antibodies for BCKDK
-
Abcam antibodies for BCKDK
- Invitrogen Antibodies for BCKDK (AFLGC-BCKDK)
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCKDK
- Sino Biological Antibodies for BCKDK
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for BCKDK
- Origene Custom Protein Services for BCKDK
- antibodies-online: Show 11 available BCKDK Proteins ranked by validation data
- Compare Top BCKDK Proteins
-
Quality Products:
-
Abcam proteins for BCKDK
Assay Products
- antibodies-online: Show 12 available BCKDK Elisa Kits ranked by validation data
- Compare Top BCKDK Elisa Kits
-
Quality Products:
Domains & Families for BCKDK Gene
Gene Families for BCKDK Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for BCKDK Gene
- InterPro:
- Blocks:
-
- ATP-binding region, ATPase-like
- Bacterial sensor protein C-terminal signature
- ProtoNet:
Suggested Antigen Peptide Sequences for BCKDK Gene
- GenScript: Design optimal peptide antigens:
-
- Branched-chain alpha-ketoacid dehydrogenase kinase (BCKD_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14874- Family:
-
- Belongs to the PDK/BCKDK protein kinase family.
Function for BCKDK Gene
Molecular function for BCKDK Gene
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[3-methyl-2-oxobutanoate dehydrogenase]-L-serine + ATP = [3-methyl-2-oxobutanoate dehydrogenase]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:17301, Rhea:RHEA-COMP:13695, Rhea:RHEA-COMP:13696, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.4;.
Enzyme Numbers (IUBMB) for BCKDK Gene
Phenotypes From GWAS Catalog for BCKDK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | ISS | -- |
| GO:0005515 | protein binding | IPI | 18985028 |
| GO:0005524 | ATP binding | IEA,ISS | -- |
Phenotypes for BCKDK Gene
- MGI mutant phenotypes for BCKDK:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BCKDK:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Increased cell death HMECs cells
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability ratio
- Negative genetic interaction between BLM-/- and BLM+/+
- shRNA abundance <= 25%
- Decreased cell migration
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased apoptosis
- Increased transferrin (TF) endocytosis
- Decreased viability in pancreas lineage
- Synthetic lethal with paclitaxel
- Increased cell migration
- Decreased viability with paclitaxel
- Decreased viability after gemcitabine stimulation
- Decreased vesicular stomatitis virus (VSV) infection
- Condensed medial Golgi
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased cell proliferation
- Decreased viability with carboplatin
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased cell elongation
Animal Model Products
-
Taconic Biosciences Mouse Models for BCKDK
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCKDK - Select products 50% OFF >
- * BCKDK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCKDK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCKDK
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCKDK
miRNA for BCKDK Gene
- miRTarBase miRNAs that target BCKDK
-
- mmu-miR-122-5p (MIRT003132)
- hsa-miR-7-5p (MIRT025739)
- hsa-miR-103a-3p (MIRT027050)
- hsa-miR-615-3p (MIRT040213)
- hsa-miR-92b-3p (MIRT040528)
- hsa-miR-125b-5p (MIRT046097)
- hsa-miR-10a-5p (MIRT047623)
- hsa-miR-548s (MIRT524770)
- hsa-miR-4684-5p (MIRT524771)
- hsa-miR-3926 (MIRT524772)
- hsa-miR-3190-5p (MIRT524773)
- hsa-miR-6849-3p (MIRT524774)
- hsa-miR-3675-3p (MIRT524775)
- hsa-miR-6771-3p (MIRT524776)
- mmu-miR-1896 (MIRT579294)
- mmu-miR-3113-5p (MIRT579295)
- mmu-miR-3064-5p (MIRT579296)
- mmu-miR-3085-3p (MIRT579297)
- mmu-miR-3087-3p (MIRT599628)
- mmu-miR-3470b (MIRT599629)
- mmu-miR-5123 (MIRT599630)
- mmu-miR-484 (MIRT599631)
- hsa-miR-1827 (MIRT763012)
- hsa-miR-3929 (MIRT767757)
- hsa-miR-4419b (MIRT768753)
- hsa-miR-4478 (MIRT769504)
- hsa-miR-4649-3p (MIRT770614)
- hsa-miR-4722-5p (MIRT771532)
- hsa-miR-4768-3p (MIRT772058)
- hsa-miR-485-5p (MIRT772593)
- hsa-miR-564 (MIRT774915)
- hsa-miR-5690 (MIRT774986)
- hsa-miR-665 (MIRT777529)
- hsa-miR-6720-3p (MIRT777716)
- hsa-miR-6746-5p (MIRT778214)
- hsa-miR-6771-5p (MIRT778671)
- hsa-miR-6808-5p (MIRT779644)
- hsa-miR-6884-5p (MIRT780981)
- hsa-miR-6893-5p (MIRT781177)
- hsa-miR-7160-5p (MIRT781588)
- hsa-miR-7977 (MIRT782276)
- hsa-miR-891a-3p (MIRT782609)
- hsa-miR-940 (MIRT782871)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCKDK
- Browse OriGene Inhibitory RNA Products For BCKDK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCKDK
Clone Products
- Applied Biological Materials (abm): Clones for BCKDK - Select products 50% OFF >
- * BCKDK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206492
- MR206492
- MR206492L3
- MR206492L4
- RC203601
- RC203601L1
- RC203601L2
- RC203601L3
- RC203601L4
- RC225553
- RC225553L3
- RC225553L4
- RC233222
- RG203601
- RG225553
- RG233222
- RR201641
- RR201641L3
- RR201641L4
- MR206492L3V
- MR206492L4V
- RC203601L1V
- RC203601L2V
- RC203601L3V
- RC203601L4V
- RC225553L3V
- RC225553L4V
- RR201641L3V
- RR201641L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCKDK
- Addgene plasmids for BCKDK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCKDK
Cell Line Products
-
Horizon Cell Lines for BCKDK
No data available for 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA,TAS | 11839747 |
| GO:0005759 | mitochondrial matrix | IEA,TAS | -- |
| GO:0005947 | mitochondrial alpha-ketoglutarate dehydrogenase complex | TAS | 11839747 |
Pathways & Interactions for BCKDK Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Valine, leucine and isoleucine degradation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Viral mRNA Translation | ||
Pathways by source for BCKDK Gene
3 Reactome pathways for BCKDK Gene
Interacting Proteins for BCKDK Gene
Selected Interacting proteins:
O14874-BCKD_HUMAN
ENSP00000378405
for BCKDK Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BCKDK
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0009063 | cellular amino acid catabolic process | NAS | 2403034 |
| GO:0009083 | branched-chain amino acid catabolic process | TAS | 11839747 |
| GO:0016310 | phosphorylation | IEA,TAS | 11839747 |
| GO:0042593 | glucose homeostasis | IBA | 21873635 |
Drugs & Compounds for BCKDK Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adenosine 5'-[gamma-thio]triphosphate | Experimental | Pharma | Target | 0 | ||
| 2-Ketobutyric acid | Experimental | Pharma | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for BCKDK Gene
mRNA/cDNA for BCKDK Gene
- 3 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000394951 2164 nts (view in UCSC)
- ENST00000567530 1796 nts (view in UCSC)
- ENST00000394950 1997 nts (view in UCSC)
- ENST00000287507 1907 nts (view in UCSC)
- ENST00000219794 2036 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCKDK - Select products 50% OFF >
- * BCKDK CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCKDK
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCKDK
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCKDK
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCKDK
- Browse OriGene Inhibitory RNA Products For BCKDK
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCKDK
Clone Products
- Applied Biological Materials (abm): Clones for BCKDK - Select products 50% OFF >
- * BCKDK as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206492
- MR206492
- MR206492L3
- MR206492L4
- RC203601
- RC203601L1
- RC203601L2
- RC203601L3
- RC203601L4
- RC225553
- RC225553L3
- RC225553L4
- RC233222
- RG203601
- RG225553
- RG233222
- RR201641
- RR201641L3
- RR201641L4
- MR206492L3V
- MR206492L4V
- RC203601L1V
- RC203601L2V
- RC203601L3V
- RC203601L4V
- RC225553L3V
- RC225553L4V
- RR201641L3V
- RR201641L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCKDK
- Addgene plasmids for BCKDK
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCKDK
| 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
Expression 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, MaxQB, and MOPED for BCKDK Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCKDK
SOURCE GeneReport for Unigene cluster for BCKDK Gene:
Hs.513520mRNA Expression by UniProt/SwissProt for BCKDK Gene:
O14874-BCKD_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for BCKDK Gene
- Liver(4.6)
- Lung(4.3)
- Nervous system(4.3)
- Muscle(3.1)
- Kidney(2.6)
- Heart(2.5)
- Skin(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BCKDK Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- head
Primer Products
-
OriGene qPCR primer pairs for BCKDK
-
OriGene qPCR primer pairs and template standards for BCKDK
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BCKDK 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BCKDK 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BCKDK 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BCKDK 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bckdk 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bckdk 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BCKDK 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BCKDK 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bckdk 30 |
|
||
| Str.19966 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32994 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bckdk 30 31 |
|
OneToOne | |
| Dr.25159 30 |
|
||||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL116C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PKP1 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E04533g 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04349 30 |
|
- Species where no ortholog for BCKDK was found in the sources mined by GeneCards:
-
- 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCKDK: view image
Paralogs for BCKDK Gene
Variants for BCKDK Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCKDK Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640951 | Uncertain Significance: Branched-chain keto acid dehydrogenase kinase deficiency | 31,109,500(+) | TC/T | INTRON_VARIANT | |
| 650837 | Uncertain Significance: Branched-chain keto acid dehydrogenase kinase deficiency | 31,109,416(+) | A/G | MISSENSE_VARIANT | |
| 709678 | Likely Benign: not provided | 31,111,196(+) | G/A | SYNONYMOUS_VARIANT | |
| 720197 | Likely Benign: Branched-chain keto acid dehydrogenase kinase deficiency | 31,111,859(+) | A/G | INTRON_VARIANT | |
| 756783 | Likely Benign: Branched-chain keto acid dehydrogenase kinase deficiency | 31,109,780(+) | C/T | SYNONYMOUS_VARIANT |
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)
Additional Variant Information for BCKDK Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCKDK Gene
Disorders for BCKDK Gene
(6) MalaCards diseases for BCKDK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| branched-chain keto acid dehydrogenase kinase deficiency |
|
|
| maple syrup urine disease |
|
|
| autism |
|
|
| organic acidemia |
|
|
| epilepsy |
|
|
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.
Additional Disease Information for BCKDK
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for BCKDK Gene
Publications for BCKDK Gene
- 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) García-Cazorla A … Agulló SB (Human mutation 2014) 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- 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 EA … Danner DJ (The Journal of biological chemistry 2004) 3 23
ExternalLinks
Products for BCKDK Gene
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Sources for BCKDK Gene
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