Bckdk MGI Mouse Gene Detail - MGI:1276121 - branched chain ketoacid dehydrogenase kinase

Using the Quick Search Tool for more information.', STICKY, CAPTION, 'Quick Search Tips', CENTER, BELOW, WIDTH, 450, DELAY, 600, CLOSECLICK, CLOSETEXT, 'Close X');" onMouseOut="nd();">
[フレーム]
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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:127503245-127508836 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.82 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J no annotation
129S1/SvImJ MGP_129S1SvImJ_G0033063
protein coding gene Chr7:132291694-132299686 (+)
A/J MGP_AJ_G0033046
protein coding gene Chr7:128749706-128755832 (+)
AKR/J MGP_AKRJ_G0032978
protein coding gene Chr7:132076980-132084072 (+)
BALB/cJ MGP_BALBcJ_G0033047
protein coding gene Chr7:128401200-128407303 (+)
C3H/HeJ MGP_C3HHeJ_G0032761
protein coding gene Chr7:131981310-131988230 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033556
protein coding gene Chr7:137437646-137446531 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030529
protein coding gene Chr7:129937710-129944437 (+)
CAST/EiJ MGP_CASTEiJ_G0032090
protein coding gene Chr7:123775564-123781712 (+)
CBA/J MGP_CBAJ_G0032734
protein coding gene Chr7:142111346-142117455 (+)
DBA/2J MGP_DBA2J_G0032886
protein coding gene Chr7:126725404-126731510 (+)
FVB/NJ MGP_FVBNJ_G0032839
protein coding gene Chr7:126587290-126593417 (+)
LP/J MGP_LPJ_G0032980
protein coding gene Chr7:133758758-133764851 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032871
protein coding gene Chr7:143176682-143182810 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033576
protein coding gene Chr7:131066998-131073111 (+)
PWK/PhJ MGP_PWKPhJ_G0031797
protein coding gene Chr7:119733245-119739409 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031643
protein coding gene Chr7:117879067-117885200 (+)
WSB/EiJ MGP_WSBEiJ_G0032202
protein coding gene Chr7:132033157-132039256 (+)



Homology
more
  • Human Ortholog
    BCKDK, branched chain keto acid dehydrogenase kinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCKDK, branched chain keto acid dehydrogenase kinase
  • Synonyms
    BCKDKD, BDK
  • Links
    NCBI Gene ID: 10295
    neXtProt AC: NX_O14874
    UniProt: O14874

  • Chr Location
    16p11.2; chr16:31106107-31117640 (+) GRCh38
Human Diseases
more
  • Diseases
    2 with Bckdk mouse models; 1 with human BCKDK associations

Human Disease Mouse Models
IDs
branched-chain keto acid dehydrogenase kinase deficiency
View 1 model
Mouse Models

Human Disease Modeled: branched-chain keto acid dehydrogenase kinase deficiency

Allelic Composition Genetic Background Reference Phenotypes
BckdkGt(VICT48)710Lex/BckdkGt(VICT48)710Lex
B6.129S5/SvEvBrd-BckdkGt(VICT48)710Lex J:187971 View
IDs
autism spectrum disorder
View 1 model
Mouse Models

Human Disease Modeled: autism spectrum disorder

Allelic Composition Genetic Background Reference Phenotypes
BckdkGt(OST79912)Lex/BckdkGt(OST79912)Lex
involves: 129S5/SvEvBrd J:238065 View
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
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    21 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • 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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    3
  • Comparison Matrix
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12041 NCBI Gene Model | MGI Sequence Detail 5592 C57BL/6J ± kb
    transcript NM_009739 RefSeq | MGI Sequence Detail 2857 C57BL/6
    polypeptide O55028 UniProt | EBI | MGI Sequence Detail 412 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000004688 branched-chain alpha-ketoacid dehydrogenase kinase
    • 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
    • GlyGen
      O55028 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 125
      cDNA 123
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141925
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 12
      Phenotypes 21
    • 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:330611 Murashige D, et al., Extra-cardiac BCAA catabolism lowers blood pressure and protects from heart failure. Cell Metab. 2022 Nov 1;34(11):1749-1764.e7
    TSS for Bckdk:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr69315 Chr7:127503227-127503238 (+) -12 bp
    Tssr69316 Chr7:127503251-127503297 (+) 29 bp
    Tssr69317 Chr7:127503526-127503539 (+) 288 bp
    Tssr69318 Chr7:127503996-127504011 (+) 759 bp
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support. last database update
    12/17/2024
    MGI 6.24 The Jackson Laboratory
    This site uses cookies. Some cookies are essential for site operations and others help us analyze use and utility of our web site. Please refer to our privacy policy for more information.
    Close Save preferences

    AltStyle によって変換されたページ (->オリジナル) /