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BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide)

Identity

Alias_namesOVD1A
branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
2-oxoisovalerate dehydrogenase (lipoamide)
Alias_symbol (synonym)MSU
Other aliasBCKDE1A
MSUD1
HGNC (Hugo) BCKDHA
LocusID (NCBI) 593
Atlas_Id 60724
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 41903694 and ends at 41930910 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BCKDHA (19q13.2) / TMEM91 (19q13.2)CARD8 (19q13.33) / BCKDHA (19q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BCKDHA   986
Cards
Entrez_Gene (NCBI)BCKDHA  593  branched chain keto acid dehydrogenase E1, alpha polypeptide
AliasesBCKDE1A; MSU; MSUD1; OVD1A
GeneCards (Weizmann)BCKDHA
Ensembl hg19 (Hinxton)ENSG00000248098 [Gene_View]  chr19:41903694-41930910 [Contig_View]  BCKDHA [Vega]
Ensembl hg38 (Hinxton)ENSG00000248098 [Gene_View]  chr19:41903694-41930910 [Contig_View]  BCKDHA [Vega]
ICGC DataPortalENSG00000248098
TCGA cBioPortalBCKDHA
AceView (NCBI)BCKDHA
Genatlas (Paris)BCKDHA
WikiGenes593
SOURCE (Princeton)BCKDHA
Genetics Home Reference (NIH)BCKDHA
Genomic and cartography
GoldenPath hg19 (UCSC)BCKDHA  -     chr19:41903694-41930910 +  19q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCKDHA  -     19q13.2   [Description]    (hg38-Dec_2013)
EnsemblBCKDHA - 19q13.2 [CytoView hg19]  BCKDHA - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIBCKDHA [Mapview hg19]  BCKDHA [Mapview hg38]
OMIM248600   608348   
Gene and transcription
Genbank (Entrez)AB209828 AK298188 AK313300 AL833143 BC007878
RefSeq transcript (Entrez)NM_000709 NM_001164783
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_013004 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)BCKDHA
Cluster EST : UnigeneHs.433307 [ NCBI ]
CGAP (NCI)Hs.433307
Alternative Splicing GalleryENSG00000248098
Gene ExpressionBCKDHA [ NCBI-GEO ]   BCKDHA [ EBI - ARRAY_EXPRESS ]   BCKDHA [ SEEK ]   BCKDHA [ MEM ]
Gene Expression Viewer (FireBrowse)BCKDHA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)593
GTEX Portal (Tissue expression)BCKDHA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12694   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12694  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12694
Splice isoforms : SwissVarP12694
Catalytic activity : Enzyme1.2.4.4 [ Enzyme-Expasy ]   1.2.4.41.2.4.4 [ IntEnz-EBI ]   1.2.4.4 [ BRENDA ]   1.2.4.4 [ KEGG ]   
PhosPhoSitePlusP12694
Domains : Interpro (EBI)DH_E1    THDP-binding   
Domain families : Pfam (Sanger)E1_dh (PF00676)   
Domain families : Pfam (NCBI)pfam00676   
Conserved Domain (NCBI)BCKDHA
DMDM Disease mutations593
Blocks (Seattle)BCKDHA
PDB (SRS)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (PDBSum)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (IMB)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
PDB (RSDB)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
Structural Biology KnowledgeBase1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
SCOP (Structural Classification of Proteins)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
CATH (Classification of proteins structures)1DTW    1OLS    1OLU    1OLX    1U5B    1V11    1V16    1V1M    1V1R    1WCI    1X7W    1X7X    1X7Y    1X7Z    1X80    2BEU    2BEV    2BEW    2BFB    2BFC    2BFD    2BFE    2BFF    2J9F   
SuperfamilyP12694
Human Protein AtlasENSG00000248098
Peptide AtlasP12694
HPRD02009
IPIIPI00025100   IPI00470386   IPI00944561   IPI00910865   IPI00974102   IPI01010871   IPI01014718   IPI01015211   
Protein Interaction databases
DIP (DOE-UCLA)P12694
IntAct (EBI)P12694
FunCoupENSG00000248098
BioGRIDBCKDHA
STRING (EMBL)BCKDHA
ZODIACBCKDHA
Ontologies - Pathways
QuickGOP12694
Ontology : AmiGOalpha-ketoacid dehydrogenase activity  3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity  protein binding  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  branched-chain amino acid catabolic process  branched-chain amino acid catabolic process  carboxy-lyase activity  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  oxidation-reduction process  
Ontology : EGO-EBIalpha-ketoacid dehydrogenase activity  3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity  protein binding  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial alpha-ketoglutarate dehydrogenase complex  branched-chain amino acid catabolic process  branched-chain amino acid catabolic process  carboxy-lyase activity  cellular nitrogen compound metabolic process  small molecule metabolic process  metal ion binding  oxidation-reduction process  
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkBCKDHA
Atlas of Cancer Signalling NetworkBCKDHA
Wikipedia pathwaysBCKDHA
Orthology - Evolution
OrthoDB593
GeneTree (enSembl)ENSG00000248098
Phylogenetic Trees/Animal Genes : TreeFamBCKDHA
HOVERGENP12694
HOGENOMP12694
Homologs : HomoloGeneBCKDHA
Homology/Alignments : Family Browser (UCSC)BCKDHA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCKDHA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCKDHA
dbVarBCKDHA
ClinVarBCKDHA
1000_GenomesBCKDHA 
Exome Variant ServerBCKDHA
ExAC (Exome Aggregation Consortium)BCKDHA (select the gene name)
Genetic variants : HAPMAP593
Genomic Variants (DGV)BCKDHA [DGVbeta]
DECIPHER (Syndromes)19:41903694-41930910  ENSG00000248098
CONAN: Copy Number AnalysisBCKDHA 
Mutations
ICGC Data PortalBCKDHA 
TCGA Data PortalBCKDHA 
Broad Tumor PortalBCKDHA
OASIS PortalBCKDHA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCKDHA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCKDHA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch BCKDHA
DgiDB (Drug Gene Interaction Database)BCKDHA
DoCM (Curated mutations)BCKDHA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCKDHA (select a term)
intoGenBCKDHA
Cancer3DBCKDHA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM248600    608348   
Orphanet20169    20168    20171    20170   
MedgenBCKDHA
Genetic Testing Registry BCKDHA
NextProtP12694 [Medical]
TSGene593
GENETestsBCKDHA
Huge Navigator BCKDHA [HugePedia]
snp3D : Map Gene to Disease593
BioCentury BCIQBCKDHA
ClinGenBCKDHA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD593
Chemical/Pharm GKB GenePA25297
Clinical trialBCKDHA
Miscellaneous
canSAR (ICR)BCKDHA (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCKDHA
EVEXBCKDHA
GoPubMedBCKDHA
iHOPBCKDHA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:55:43 CET 2017

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