| Retrocopy Name | PDHA2 |
|
| Species | Homo sapiens | |
| Coordinates (hg38) | chr4:95840205-95841324 UCSC | |
| Coordinates (T2T) | chr4:99155405-99156524 UCSC | |
| Coordinates (hg19) | chr4:96761356-96762475 UCSC | |
| Strand | + | |
| Parental Sequence | NM_000284.4 | |
| Parental seq. overlap | 953 bp | |
| Parental seq. overlap (%) | 28.4% | |
| Genomic Region |
Intergenic |
|
| Retrocopy Summary | PDHA2, located on chr4:95840205-95841324, is a retrocopy of the parental gene PDHA1. Retrocopies of protein-coding genes, also known as processed pseudogenes, are intriguing genomic elements with implications in genome evolution and diseases. While some retrocopies are non-functional, there are examples of retrocopies (retrogenes) acquiring regulatory roles or exhibiting neofunctionalization unrelated to their parental genes. |
| Gene Name | PDHA1 |
| 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] |
| >PDHA2 |
| CGCAGAGTGCTGGTGGCATCCCGTAACTCCTCAAATGACGCTACATTTGAAATTAAGAAATGTGATCTTTATCTGTTGGAAGAGGGTCCCCCTGTCACTACAGTGCTCACTAGGGCGGAGGGGCTTAAATACTACAGGATGATGCTGACTGTTCGCCGCATGGAATTGAAGGCAGATCAGCTGTACAAACAGAAATTCATTCGCGGTTTCTGTCACCTGTGCGATGGTCAGGAAGCTTGTTGCGTGGGCCTTGAGGCCGGCATAAACCCCTCGGATCACGTCATTACATCCTATAGGGCTCATGGTGTGTGCTATACTCGGGGACTTTCTGTCCGATCCATTCTCGCAGAGCTGACGGGAAGAAGAGGAGGTTGTGCTAAAGGAAAAGGAGGATCGATGCATATGTATACCAAGAACTTCTATGGGGGCAATGGCATCGTCGGTGCACAGGGCCCCCTGGGCGCTGGCATTGCTCTGGCCTGTAAATATAAAGGAAACGATGAGATCTGTTTGACTTTATATGGGGATGGCGCTGCGAATCAGGGGCAGATAGCCGAAGCTTTCAATATGGCAGCTTTATGGAAATTACCTTGTGTTTTCATCTGTGAGAATAACCTATATGGAATGGGAACATCTACTGAGAGAGCAGCAGCCAGCCCTGATTACTACAAGAGGGGCAATTTTATCCCTGGGCTAAAGGTCGATGGAATGGATGTTCTGTGTGTTCGTGAGGCAACAAAATTTGCAGCTAACTACTGTAGATCTGGAAAGGGGCCCATACTGATGGAGCTGCAAACCTACCGTTATCATGGACACAGTATGAGTGATCCTGGAGTCAGTTATCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGGGATCCTATAATAATTCTCCAAGATAGAATGGTAAACAGCAAGCTCGCCACTGTGGAAGAATTAAAGGAAATTGGGGCTGAGGTGAGGAAAGAAATTGATGATGCTGCCCAGTTTGCTACCACTGATCCTGAGCCACATTTGGAAGAATTAGGCCATCACATCTACAGCAGTGATTCATCTTTTGAAGTTCGTGGTGCAAATCCATGGATCAAGTTTAAGTCCGTCAGTTAAAGGGAGG |
| >NM_000284.4 |
| GGTGCGACTGAGGCGTGGCGTCTGCTGGGGCACCTGAAGGAGACTTGGGGGCACCCGCGTCGTGCCTCCTGGGTTGTGAGGAGTCGCCGCTGCCGCCACTGCCTGTGCTTCATGAGGAAGATGCTCGCCGCCGTCTCCCGCGTGCTGTCTGGCGCTTCTCAGAAGCCGGCAAGCAGAGTGCTGGTAGCATCCCGTAATTTTGCAAATGATGCTACATTTGAAATTAAGaaatgtgaccttcaccggctggaagaaggccctcctgtcacaacagtgctcaccagggaggatgggctcaaatactacaggatgatgCAGACTGTACGCCGAATGGAGTTGAAAGCAGATCAGCTGTATAAACAGAAAATTATTCGTGGTTTCTGTCACTTGTGTGATGGTCAGGAAGCTTGCTGTGTGGGCCTGGAGGCCGGCATCAACCCCACAGACCATCTCATCACAGCCTACCGGGCTCACGGCTTTACTTTCACCCGGGGCCTTTCCGTCCGAGAAATTCTCGCAGAGCTTACAGGACGAAAAGGAGGTTGTGCTAAAGGGAAAGGAGGATCGATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCATCGTGGGAGCGCAGGTGCCCCTGGGCGCTGGGATTGCTCTAGCCTGTAAGTATAATGGAAAAGATGAGGTCTGCCTGACTTTATATGGCGATGGTGCTGCTAACCAGGGCCAGATATTCGAAGCTTACAACATGGCAGCTTTGTGGAAATTACCTTGTATTTTCATCTGTGAGAATAATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCCAGCACTGATTACTACAAGAGAGGCGATTTCATTCCTGGGCTGAGAGTGGATGGAATGGATATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTATTGTAGATCTGGGAAGGGGCCCATCCTGATGGAGCTGCAGACTTACCGTTACCACGGACACAGTATGAGTGACCCTGGAGTCAGTTACCGTACACGAGAAGAAATTCAGGAAGTAAGAAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAGTGTGGAAGAACTAAAGGAAATTGATGTGGAAGTGAGGAAGGAGATTGAGGATGCTGCCCAGTTTGCCACGGCCGATCCTGAGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTCCAGCGACCCACCTTTTGAAGTTCGTGGTGCCAATCAGTGGATCAAGTTTAAGTCAGTCAGTTAAGGGGAGGAGAAGGAGAGGTTATACCTTCAGGGGGCTACCAGACAGTGTTCTCAACTTGGTTAAGGAGGAAGAAAACCCAGTCAATGAAATTCAATGAAATTCTTGGAAACTTCCATTAAGTGTGTAGATTGAGCAGGTAGTAATTGCATGCAGTTTGTACATTAGTGCATTAAAAGATGAATTATTGAGTGCTTAAAGATTATTTTTGACTTAAAATAGTATACTTTGAACAAATACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTCCCCTGCCCCCAGCCACCTTTTTGGGAGGAGACCATTATGGCGGGGCCCCTCACAGCATTCTACCAACCATAGCACCCACCCCGAGCAGCGCTGGTGCTGCAGCCTGTTCGCGCTGACCATTTCTCTACAAGATACAATATTTATTATCAGGCAAGAGGACAGTTCCATTTTAAAATAAGACTTTTGTAATCATTCCAATTTTGTAATCATTTCAAAGGCCACATAACTTAGTTTTCTCTACTTACACATTCAGTATAAATATGAAGCTATTTTCTGTTCATATCAAACATTAACTACAAGGCACATTCGTATCAGTTTTGTGTTTCTCAAATTGAAGTACCATACCAGTTCTGAGGCAGTGTCCCAGCTTCCATGTTTGTTAAATACCCCTTGTTTGTTTCACCATTCCAGCAAGTGCTGAAGGGTGTACtttttttgagacagggtcgggctctgttgcccaggctggagtgcagtggtgtgatcatggctcactgcagcctccacacctcctgggctcaagcaatcctcccacctcagcctcctgcatagctgggactacaagtgAATTTCCTAATATTCCGGGAGGTCAAAACCAAGGCTCACTGTTTTCACAATACACACAGTTCTATGTTTATAAATAACAGGTTTCAAAAGAAACTCAGGACAGTATTTAAAACAAGTTCTTAAACTATTAATTGAACAATGGCATTTTTAAATATGTAAACACAGCGGAATTCGTGTATACACTAACAGAAGCTTTAACAAAACATGTAGCGTGGTGGGACACTCTGCCACAGCTTAGCTGATTGGTATCAAGCCTTGTCTTTGGTTTCTGAGGCCTCCTGAGCCCTTCTGTACTGGGAGACCGCACTCCAGAGTCTGCAGAGGAGACCACCCCTGGGAAACAAACACAGCTGTCTTCAGAGTCAGTGCTTCAAGCCAACAGAGCTTAAAACTGCAGTCCCTAATTTAAAAACCTAATGAAAATAAAAACATTCTcctcacatatggaggtgacgctcgtgtcccagcagtagtaggacatggccttagagGTACGTACCTGCAGAGAGCTGGCTATTTCAAATGACTCGGGAACAAGAAGGCAGGCTGCAGTTTAAAGAAGGGGGTGGGTCCAGCGTGCAGGCACGCTTGCCATGTGCCTCCACCCACTCCCAGCCAGGCATTAATGGCAGGAGATTGGCCAGCTCTTCTCTGTCACATTCCTATTTCTGACTTCTGCCTGGCTTTCAGTTTCTGCCCCACCTTGGCTTTTTCCCAGCTTGAACCTAATAGAACTCCAGAGTTTGGGGGGAGGCCCAGCCCTTTGTTTTCTGCTCTTGAAGCATATTCACACATAAAAAGTTGTATTCTCTTATACAAACTGTTTTGAGGCTCTTACCGTAGTCGAAGGTATCTTAGATCTTCCTTAGTGATCTCATTAAGAATATCCGAAAGTGTATAACCCTCTTCAACAATCTGAAACAAAGATCAGATCCTTAAGAGCTGAGCAGCTGTGTAACAACAGCATAAGAATTTCTTTGTTGTAAATTTACCTTTTCAATTGTCTTTGCATCAGCTCCTTGCAGCCGCAACCAGTCTATAAGCTCTTTATCTGTTCTCTGCCCGTAGGGGCCTGCTGGGTTCTCTGTAATACCTGTAACGATTGGCAATTTGTTATATATTAGTCTAACCATAAAACTCTTCAAAAGTAACCAGTTGGATTAATAAATGATTCCAGAATGTAAATGTGATGTGAAAAAGAGATGAATTAACCCTGTA |
| PMID - Link | Title |
|---|
