Human (GRCh37.p13)
Description

branched chain keto acid dehydrogenase E1, alpha polypeptide [Source:HGNC Symbol;Acc:986]

Gene Synonyms

BCKDE1A, MSU, MSUD1, OVD1A

Location

Chromosome 19: 41,884,215-41,930,910 forward strand.

GRCh37:CM000681.1

About this gene

This gene has 9 transcripts (splice variants), 3 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000269980.2BCKDHA-0012103445aaENSP00000269980.2
 
Protein coding
CCDS12581P12694 Q59EI3 Q9UMB3
NM_001164783.1GENCODE basic
ENST00000595085.1BCKDHA-2011833479aaENSP00000471150.1
 
Protein coding
F5H5P2 Q9UMB3 -GENCODE basic
ENST00000457836.2BCKDHA-0021745448aaENSP00000416000.2
 
Protein coding
B4DP47 Q9UMB3 -GENCODE basic
ENST00000542943.1BCKDHA-007994328aaENSP00000440345.1
 
Protein coding
F5GXU9 -CDS 3' incomplete
ENST00000541315.1BCKDHA-004632211aaENSP00000445809.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000544905.1BCKDHA-00656294aaENSP00000445727.1
 
Protein coding
--CDS 5' incomplete
ENST00000535632.1BCKDHA-008615No protein-
 
Processed transcript
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ENST00000538423.1BCKDHA-005816No protein-
 
Retained intron
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ENST00000545787.1BCKDHA-009587No protein-
 
Retained intron
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