Gene Gene information from NCBI Gene database.
Entrez ID 55066
Gene name Pyruvate dehydrogenase phosphatase regulatory subunit
Gene symbol PDPR
Synonyms (NCBI Gene)
PDP3
Chromosome 16
Chromosome location 16q22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
1077
miRTarBase ID miRNA Experiments Reference
MIRT020998 hsa-miR-155-5p Proteomics 20371610
MIRT023174 hsa-miR-124-3p Microarray 18668037
MIRT032052 hsa-miR-16-5p Proteomics 18668040
MIRT032497 hsa-let-7b-5p Proteomics 18668040
MIRT040806 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion NAS 6293549
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617835 30264 ENSG00000090857
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NCN5
Protein name Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial (PDPr)
Protein function Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.
PDB 8FHL , 8FHU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01266 DAO 44 402 FAD dependent oxidoreductase Domain
PF16350 FAO_M 405 460 FAD dependent oxidoreductase central domain Family
PF01571 GCV_T 462 739 Aminomethyltransferase folate-binding domain Domain
PF08669 GCV_T_C 765 858 Glycine cleavage T-protein C-terminal barrel domain Domain
Sequence
MMFYRLLSIVGRQRASPGWQNWSSARNSTSAAEARSMALPTQAQVVICGGGITGTSVAYH
LSKMGWKDIVLLEQGRLAAGSTRFCAGILSTARHLTIEQKMADYSNKLYYQLEQETGIQT
GYTRTGSIFLAQTQDRLISLKRINAGLNVIGIPSEIISPKKVAELHHLLNVHDLVGAMHV
PEDAVVSSADVALALASAASQNGVQIYDRTSVLHVMVKKGQVTGVETDKGQIECQYFVNC
AGQWAYELGLSNEEPVSIPLHACEHFYLLTRPLETPLQSSTPTIVDADGRIYIRNWQGGI
LSGGFEKNPKPIFTEGKNQLEIQNLQEDWDHFEPLLSSLLRRMPELETLEIMKLVNCPET
FTPDMRCIMGESPAVQGYFVLAGMNSAGLSFGGGAGKYLAEW
MVHGYPSENVWELDLKRF
GALQSSRTFLRHRVMEVMPLMYDLKVPRWDFQTGRQLRTS
PLYDRLDAQGARWMEKHGFE
RPKYFVPPDKDLLALEQSKTFYKPDWFDIVESEVKCCKEAVCVIDMSSFTKFEITSTGDQ
ALEVLQYLFSNDLDVPVGHIVHTGMLNEGGGYENDCSIARLNKRSFFMISPTDQQVHCWA
WLKKHMPKDSNLLLEDVTWKYTALNLIGPRAVDVLSELSYAPMTPDHFPSLFCKEMSVGY
ANGIRVMSMTHTGEPGFMLYIPIEYALHVYNEVMSVGQKYGIRNAGYYALRSLRIEKFFA
FWGQDINNLTTPLECGRES
RVKLEKGMDFIGRDALLQQKQNGVYKRLTMFILDDHDSDLD
LWPWWGEPIYRNGQYVGKTTSSAYSYSLERHVCLGFVHNFSEDTGEEQVVTADFINRGEY
EIDIAGYRFQAKAKLYPV
ASLFTQKRRKDDMELSDLHGK
Sequence length 879
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of pyruvate dehydrogenase (PDH) complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Joubert syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autism Spectrum Disorder Associate 34948243
★☆☆☆☆
Found in Text Mining only
Essential Tremor Associate 36183486
★☆☆☆☆
Found in Text Mining only