Human (GRCh38.p14)
Description

pyruvate dehydrogenase E1 subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:8806]

Gene Synonyms

E1ALPHA, PDHA

Location

Chromosome X: 19,343,893-19,361,718 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 13 transcripts (splice variants), 306 orthologues, 2 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000422285.7PDHA1-2053349390aaENSP00000394382.2
 
Protein coding
CCDS14192P08559-1 NM_000284.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000423505.6PDHA1-2063463428aaENSP00000406473.2
 
Protein coding
CCDS55380P08559-4 -GENCODE basicTSL:2
ENST00000355808.10PDHA1-2013330397aaENSP00000348062.6
 
Protein coding
CCDS55381P08559-2 -GENCODE basicTSL:3
ENST00000540249.5PDHA1-2113277359aaENSP00000440761.1
 
Protein coding
CCDS55382P08559-3 -GENCODE basicTSL:2
ENST00000417819.6PDHA1-2041518418aaENSP00000404616.2
 
Protein coding
Q5JPU2 -GENCODE basicTSL:3
ENST00000696705.1PDHA1-2133257150aaENSP00000512824.1
 
Nonsense mediated decay
A0A8Q3WLI8 --
ENST00000696704.1PDHA1-2123111160aaENSP00000512823.1
 
Nonsense mediated decay
A0A8Q3WLK5 --
ENST00000379805.4PDHA1-2031672180aaENSP00000369133.3
 
Nonsense mediated decay
Q5JPU0 -TSL:2
ENST00000481733.2PDHA1-2091162No protein-
 
Retained intron
--TSL:2
ENST00000478795.1PDHA1-207791No protein-
 
Retained intron
--TSL:2
ENST00000379804.1PDHA1-202709No protein-
 
Retained intron
--TSL:2
ENST00000492364.1PDHA1-210611No protein-
 
Retained intron
--TSL:2
ENST00000479146.1PDHA1-208535No protein-
 
Retained intron
--TSL:2