Property Summary

NCBI Gene PubMed Count 17
PubMed Score 13.86
PubTator Score 10.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Synonym

Accession P29803 B2R9Q3 Q0VDI5 Q4VC02 Q6NXQ1
Symbols PDHAL

Gene

PANTHER Protein Class (2)

Gene RIF (4)

PMID Text
22750801 Expression of the PDHA1 gene was found in all somatic cells, whereas expression of PDHA2 gene was restricted to germ cells. The switch from X-linked to autosomic gene expression occurred in spermatocytes.
22675509 Methylation of the PDHA2 coding region can inhibit gene transcription.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20005141 it is the full demethylation of the CpG island located in the coding region that seems to play a crucial role upon PDHA2 gene transcription in testis.

AA Sequence

MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLLEEGPPVTTVLTRAEGLKYYRMMLTVR      1 - 70
RMELKADQLYKQKFIRGFCHLCDGQEACCVGLEAGINPSDHVITSYRAHGVCYTRGLSVRSILAELTGRR     71 - 140
GGCAKGKGGSMHMYTKNFYGGNGIVGAQGPLGAGIALACKYKGNDEICLTLYGDGAANQGQIAEAFNMAA    141 - 210
LWKLPCVFICENNLYGMGTSTERAAASPDYYKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKGPILM    211 - 280
ELQTYRYHGHSMSDPGVSYRTREEIQEVRSKRDPIIILQDRMVNSKLATVEELKEIGAEVRKEIDDAAQF    281 - 350
ATTDPEPHLEELGHHIYSSDSSFEVRGANPWIKFKSVS                                    351 - 388
//

Publication (20)

PMID Year Title
22750801 2012 Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1? subunit genes in human spermatogenesis.
22675509 2012 Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20005141 2010 Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16436377 2006 Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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