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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
Location & Maps
more
  • Sequence Map
    Chr7:25629852-25658761 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28910 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BCKDHA, branched chain keto acid dehydrogenase E1, alpha polypeptide
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BCKDHA, branched chain keto acid dehydrogenase E1, alpha polypeptide
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCKDE1A, MSU, MSUD1, OVD1A
  • Links
    NCBI Gene ID: 593
    neXtProt AC: NX_P12694

  • Chr Location
    19q13.1-q13.2; chr19:41397789-41425005 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human BCKDHA associations

Human Disease Mouse Models
       Maple Syrup Urine Disease; MSUD   OMIM: 248600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000060376 Ensembl Gene Model | MGI Sequence Detail 28910 C57BL/6J ±  kb
transcript ENSMUST00000071329 Ensembl | MGI Sequence Detail 1773 Not Applicable  
polypeptide ENSMUSP00000071292 Ensembl | MGI Sequence Detail 446 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    151 from dbSNP Build 137
Protein
Information
less
  • UniProt
    3 Sequences
  • EC
  • InterPro Domains
    IPR001017 Dehydrogenase, E1 component
    IPR029061 Thiamin diphosphate-binding fold
Molecular
Reagents
less
  • All nucleic 188
    cDNA 187
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-36277
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 7
    Phenotypes 6
  • 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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory