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Bckdha Gene Detail
Summary
  • Symbol
    Bckdha
  • Name
    branched chain ketoacid dehydrogenase E1, alpha polypeptide
  • Synonyms
    BCKAD E1[a]
  • Feature Type
    protein coding gene
  • IDs
    MGI:107701
    NCBI Gene: 12039
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:25329371-25358178 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 13.94 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    790 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107701
 protein coding gene Chr7:25329371-25358406 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031872
 protein coding gene Chr7:24130401-24165618 (-)
A/J MGP_AJ_G0031851
 protein coding gene Chr7:23490496-23530236 (-)
AKR/J MGP_AKRJ_G0031780
 protein coding gene Chr7:24101445-24132590 (-)
BALB/cJ MGP_BALBcJ_G0031856
 protein coding gene Chr7:23742328-23772542 (-)
C3H/HeJ MGP_C3HHeJ_G0031577
 protein coding gene Chr7:24519790-24548579 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032320
 protein coding gene Chr7:24938341-24978611 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029375
 protein coding gene Chr7:24842933-24872945 (-)
CAST/EiJ MGP_CASTEiJ_G0030917
 protein coding gene Chr7:17930520-17960731 (-)
CBA/J MGP_CBAJ_G0031542
 protein coding gene Chr7:25823434-25855602 (-)
DBA/2J MGP_DBA2J_G0031696
 protein coding gene Chr7:23399394-23427981 (-)
FVB/NJ MGP_FVBNJ_G0031649
 protein coding gene Chr7:23429461-23458820 (-)
LP/J MGP_LPJ_G0031775
 protein coding gene Chr7:24413715-24444629 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031686
 protein coding gene Chr7:25552342-25589086 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032352
 protein coding gene Chr7:23746527-23777125 (-)
PWK/PhJ MGP_PWKPhJ_G0030641
 protein coding gene Chr7:18348849-18378161 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030471
 protein coding gene Chr7:15070909-15099506 (-)
WSB/EiJ MGP_WSBEiJ_G0031020
 protein coding gene Chr7:23966309-23997561 (-)



Homology
more
  • Human Ortholog
    BCKDHA, branched chain keto acid dehydrogenase E1 subunit alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BCKDHA, branched chain keto acid dehydrogenase E1 subunit alpha
  • Synonyms
    BCKDE1A, MSU, MSUD1, MSUD1A, OVD1A
  • Links
    NCBI Gene ID: 593
    neXtProt AC: NX_P12694
    UniProt: P12694

  • Chr Location
    19q13.2; chr19:41397808-41425002 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BCKDHA associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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
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.
Mice homozygous for a conditional allele activated in BAT exhibit impaired adaptive thermogenesis, lack a decrease in branched-chains amino acid plasma concentration in response to cold exposure and induced increased body weight, body fat, and liver weight, impaired glucose tolerance and insulin resistance in response to a high-fat diet.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    8
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

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
    813
  • Tissues
    107
  • cDNA Data
    188
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12039 NCBI Gene Model | MGI Sequence Detail 28808 C57BL/6J ±  kb
    transcript NM_001403511 RefSeq | MGI Sequence Detail 1778 C57BL/6  
    polypeptide P50136 UniProt | EBI | MGI Sequence Detail 442 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • EC
      1.2.4.4
    • InterPro Domains
      IPR050771 Alpha-ketoacid dehydrogenase complex E1 component
      IPR001017 Dehydrogenase, E1 component
      IPR029061 Thiamin diphosphate-binding fold
    • GlyGen
      P50136 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 189
      cDNA 188
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36277
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 2
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:160670 Frerman FE, et al., Leucine catabolism during the differentiation of 3T3-L1 cells. Expression of a mitochondrial enzyme system. J Biol Chem. 1983 Jun 10;258(11):7087-93
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory