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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BCKDHA, branched chain keto acid dehydrogenase E1, alpha polypeptide
Sequence ID:NM_000709
NM_001164783
RefSeqGene ID:NG_013004
Entrez Gene ID:593
Ensembl ID:ENSG00000248098

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
MAPLE SYRUP URINE DISEASE, TYPE IABCKDHB
DBT
DLD

Cytogenetic Location (from UniGene)

Cytogenetic Location:19q13.1-q13.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:19: 41903732 - 41930909

 Exon Info From UCSC:
NM_000709
NM_001164783

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
2822372Full LengthBC008933branched chain keto acid dehydrogenase E1, alpha polypeptide
3938510Full LengthBC007878branched chain keto acid dehydrogenase E1, alpha polypeptide
4065221Full LengthBC023983branched chain keto acid dehydrogenase E1, alpha polypeptide

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000700  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000709 NP_000700 P12694 EC 1.2.4.4 E1_dh
NM_001164783 NP_001158255      

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M22221 AAA35590 P12694 EC 1.2.4.4
J04474 AAB59549 P12694 EC 1.2.4.4
BC007878 AAH07878 P12694 EC 1.2.4.4
BC008933 AAH08933 P12694 EC 1.2.4.4
BC023983 AAH23983 P12694 EC 1.2.4.4
AB209828 BAD93065 Q59EI3  
AK313300 BAG36106 B2R8A9  
AK298188 BAG60459 B4DP47  
Z14093 CAA78475 P12694 EC 1.2.4.4
AL833143 CAH56215 Q658P7  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BCKDHA NP_000700 R.norvegicus Bckdha 25244   NP_036914 94
M.musculus Bckdha 12039 Gene Info NP_031559 93
C.elegans Transketolase 176716   NP_001033376 64
D.melanogaster CG8199 41149   NP_649905 60
A.gambiae AgaP_AGAP003136 1273808   XP_312823 59
N.crassa NCU09864 3876328   XP_960181 54
A.thaliana AT5G09300 830789   NP_568209 47

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)