Summary

Gene Name	PDHA1
Specie	Homo sapiens
Full Name	pyruvate dehydrogenase E1 subunit alpha 1
Also known as	E1alpha|PDHA|PDHAD|PDHCE1A|PHE1A
Coordinate	chrX:19343906-19361718
Strand	+
Gene summary	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

Retrocopy(s) from PDHA1

Retroname	Coord	Strand	Genomic Region	ENSG
PDHA1P1	chr3:57800479-57801042	-	Intragenic	ENSG00000270772	UCSC
PDHA2	chr4:95840205-95841324	+	Intergenic	ENSG00000163114	UCSC

Expression

Transcript Sequences

>NM_000284.4

GGTGCGACTGAGGCGTGGCGTCTGCTGGGGCACCTGAAGGAGACTTGGGGGCACCCGCGTCGTGCCTCCTGGGTTGTGAGGAGTCGCCGCTGCCGCCACTGCCTGTGCTTCATGAGGAAGATGCTCGCCGCCGTCTCCCGCGTGCTGTCTGGCGCTTCTCAGAAGCCGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGaaatgtgaccttcaccggctggaagaaggccctcctgtcacaacagtgctcaccagggaggatgggctcaaatactacaggatgatgCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACtttttttgagacagggtcgggctctgttgcccaggctggagtgcagtggtgtgatcatggctcactgcagcctccacacctcctgggctcaagcaatcctcccacctcagcctcctgcatagctgggactacaagtgAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTcctcacatatggaggtgacgctcgtgtcccagcagtagtaggacatggccttagagGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATGTAAATGTGATGTGAAAAAGAGATGAATTAACCCTGTA