• Gene id: 55066

Gene Summary

• Gene Symbol: PDPR   Gene   UCSC   Ensembl
• Aliases: PDP3
• Gene name: pyruvate dehydrogenase phosphatase regulatory subunit
• Alternate names: pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial,
• Gene location: 16q22.1 (70113625: 70163630)     Exons: 24     NC_000016.10
• Gene summary(Entrez): Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase ph
• OMIM: 617835

Protein Summary

• Protein general information: Q8NCN5  
  • Name: Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial (PDPr)
  • Length: 879  
  • Mass: 99364
• Sequence:

  MMFYRLLSIVGRQRASPGWQNWSSARNSTSAAEARSMALPTQAQVVICGGGITGTSVAYHLSKMGWKDIVLLEQG
  RLAAGSTRFCAGILSTARHLTIEQKMADYSNKLYYQLEQETGIQTGYTRTGSIFLAQTQDRLISLKRINAGLNVI
  GIPSEIISPKKVAELHHLLNVHDLVGAMHVPEDAVVSSADVALALASAASQNGVQIYDRTSVLHVMVKKGQVTGV
  ETDKGQIECQYFVNCAGQWAYELGLSNEEPVSIPLHACEHFYLLTRPLETPLQSSTPTIVDADGRIYIRNWQGGI
  LSGGFEKNPKPIFTEGKNQLEIQNLQEDWDHFEPLLSSLLRRMPELETLEIMKLVNCPETFTPDMRCIMGESPAV
  QGYFVLAGMNSAGLSFGGGAGKYLAEWMVHGYPSENVWELDLKRFGALQSSRTFLRHRVMEVMPLMYDLKVPRWD
  FQTGRQLRTSPLYDRLDAQGARWMEKHGFERPKYFVPPDKDLLALEQSKTFYKPDWFDIVESEVKCCKEAVCVID
  MSSFTKFEITSTGDQALEVLQYLFSNDLDVPVGHIVHTGMLNEGGGYENDCSIARLNKRSFFMISPTDQQVHCWA
  WLKKHMPKDSNLLLEDVTWKYTALNLIGPRAVDVLSELSYAPMTPDHFPSLFCKEMSVGYANGIRVMSMTHTGEP
  GFMLYIPIEYALHVYNEVMSVGQKYGIRNAGYYALRSLRIEKFFAFWGQDINNLTTPLECGRESRVKLEKGMDFI
  GRDALLQQKQNGVYKRLTMFILDDHDSDLDLWPWWGEPIYRNGQYVGKTTSSAYSYSLERHVCLGFVHNFSEDTG
  EEQVVTADFINRGEYEIDIAGYRFQAKAKLYPVASLFTQKRRKDDMELSDLHGK

• Structural information:
  • Interpro: IPR006076  IPR036188  IPR032503  IPR013977  IPR006222   IPR029043  IPR027266  
  • STRING: ENSP00000288050
• Other Databases: GeneCards:  PDPR  Malacards:  PDPR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0010510	regulation of acetyl-CoA biosynthetic process from pyruvate	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray