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Bckdk Gene Detail
Summary
  • Symbol
    Bckdk
  • Name
    branched chain ketoacid dehydrogenase kinase
  • Synonyms
    BCKD-kinase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276121
    NCBI Gene: 12041
  • Gene Overview
    MyGene.info: BCKDK
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:127904082-127910221 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6140 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.82 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BCKDK, branched chain ketoacid dehydrogenase kinase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    BCKDK, branched chain ketoacid dehydrogenase kinase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCKDKD, BDK
  • Links
    NCBI Gene ID: 10295
    neXtProt AC: NX_O14874
    UniProt: O14874

  • Chr Location
    16p11.2; chr16:31108294-31117651 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Bckdk mouse models; 1 with human BCKDK associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Nullizygous mutations lead to altered amino acid metabolism, gait anomalies and neurobehavioral phenotypes. Homozygotes for a gene trapped allele show impaired growth, reduced fertility and epileptic seizures. Homozygotes for another gene trapped allele show motor delay and autism-like behaviors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000025391 VEGA Gene Model | MGI Sequence Detail 6140 C57BL/6J ±  kb
    transcript OTTMUST00000062511 VEGA | MGI Sequence Detail 3405 Not Applicable  
    polypeptide OTTMUSP00000030822 VEGA | MGI Sequence Detail 412 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      58 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000004688 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial
    • EC
    • InterPro Domains
      IPR036784 Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily
      IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal
      IPR005467 Histidine kinase domain
      IPR003594 Histidine kinase/HSP90-like ATPase
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR039028 PDK/BCKDK protein kinase
      IPR004358 Signal transduction histidine kinase-related protein, C-terminal
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 123
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141925
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:48080 Doering CB, et al., Murine branched chain alpha-ketoacid dehydrogenase kinase; cDNA cloning, tissue distribution, and temporal expression during embryonic development. Gene. 1998 Jun 8;212(2):213-9
    • Latest
      J:250560 Xu M, et al., Endurance performance and energy metabolism during exercise in mice with a muscle-specific defect in the control of branched-chain amino acid catabolism. PLoS One. 2017;12(7):e0180989

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory