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Aliases for PDPR Gene

Aliases for PDPR Gene

  • Pyruvate Dehydrogenase Phosphatase Regulatory Subunit 2 3 5
  • Pyruvate Dehydrogenase Phosphatase Regulatory Subunit, Mitochondrial 3
  • KIAA1990 4
  • PDP3 3
  • PDPr 4

External Ids for PDPR Gene

Previous GeneCards Identifiers for PDPR Gene

  • GC16P069883
  • GC16P069923
  • GC16P068705
  • GC16P070148
  • GC16P056002

Summaries for PDPR Gene

GeneCards Summary for PDPR Gene

PDPR (Pyruvate Dehydrogenase Phosphatase Regulatory Subunit) is a Protein Coding gene. Diseases associated with PDPR include Anismus. Among its related pathways are Metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. GO annotations related to this gene include oxidoreductase activity and aminomethyltransferase activity. An important paralog of this gene is SARDH.

UniProtKB/Swiss-Prot for PDPR Gene

  • Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDPR Gene

Genomics for PDPR Gene

Regulatory Elements for PDPR Gene

Enhancers for PDPR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F069829 1.7 FANTOM5 Ensembl ENCODE 66.8 -281.6 -281583 5.5 PKNOX1 ZFP64 ARID4B SLC30A9 ZNF766 ZNF302 CBX5 FOS NFYC ZHX2 PDPR SF3B3 NONOP1 LOC400541 PDXDC2P NPIPB14P CHTF8 EXOSC6 NOB1 NQO1
GH16F069402 1.7 FANTOM5 Ensembl ENCODE 52.8 -705.6 -705560 11.7 PKNOX1 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF302 FOS PDPR NONOP1 LOC400541 PDXDC2P NIP7 CHTF8 TMED6 NOB1 UTP4 NPIPB14P
GH16F070986 1.3 Ensembl ENCODE 47.6 +873.9 873875 1.4 PKNOX1 ZNF133 GLI4 ZNF2 FOS SP3 YY2 REST TSHZ1 ZNF518A SF3B3 PDPR LOC400541 ATXN1L EXOSC6 PDXDC2P NPIPB14P ENSG00000261513 AP1G1 ENSG00000247324
GH16F070379 1.2 ENCODE 49.8 +267.1 267068 3.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PDPR SF3B3 PDXDC2P NONOP1 NPIPB14P LOC400541 EXOSC6 SMG1P7 ENSG00000260111 LOC105371329
GH16F069223 0.9 ENCODE 55.3 -888.5 -888464 3.5 ZFP64 ZBTB40 ZNF121 ZNF302 ZNF138 ZNF202 ZBTB11 REST ZNF623 ZNF781 PDPR NONOP1 PDXDC2P LOC400541 CHTF8 SNTB2 NPIPB14P UTP4 NOB1 NIP7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDPR on UCSC Golden Path with GeneCards custom track

Promoters for PDPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000272967 874 1801 HDGF ATF1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 BRCA1 GLIS2

Genomic Location for PDPR Gene

Chromosome:
16
Start:
70,113,626 bp from pter
End:
70,162,537 bp from pter
Size:
48,912 bases
Orientation:
Plus strand

Genomic View for PDPR Gene

Genes around PDPR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDPR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDPR Gene

Proteins for PDPR Gene

  • Protein details for PDPR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCN5-PDPR_HUMAN
    Recommended name:
    Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial
    Protein Accession:
    Q8NCN5
    Secondary Accessions:
    • A7E298
    • A8K8Y7
    • B3KSE1
    • Q6AI20
    • Q6AWC9

    Protein attributes for PDPR Gene

    Size:
    879 amino acids
    Molecular mass:
    99364 Da
    Quaternary structure:
    • Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit.
    SequenceCaution:
    • Sequence=BAC02699.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF85191.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PDPR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDPR Gene

Post-translational modifications for PDPR Gene

  • Ubiquitination at Lys 100
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PDPR Gene

Domains & Families for PDPR Gene

Graphical View of Domain Structure for InterPro Entry

Q8NCN5

UniProtKB/Swiss-Prot:

PDPR_HUMAN :
  • Belongs to the GcvT family.
Family:
  • Belongs to the GcvT family.
genes like me logo Genes that share domains with PDPR: view

No data available for Gene Families for PDPR Gene

Function for PDPR Gene

Molecular function for PDPR Gene

UniProtKB/Swiss-Prot Function:
Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.

Gene Ontology (GO) - Molecular Function for PDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004741 [pyruvate dehydrogenase (lipoamide)] phosphatase activity EXP 9651365
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PDPR: view
genes like me logo Genes that share phenotypes with PDPR: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDPR Gene

Localization for PDPR Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDPR Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDPR gene
Compartment Confidence
mitochondrion 5
cytosol 4
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PDPR: view

Pathways & Interactions for PDPR Gene

genes like me logo Genes that share pathways with PDPR: view

Interacting Proteins for PDPR Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000288050%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000319531%0d%0a9606.ENSP00000318868%0d%0a9606.ENSP00000318868%0d%0a9606.ENSP00000333667%0d%0a
Selected Interacting proteins: ENSP00000288050 Q8NCN5-PDPR_HUMAN for PDPR Gene via STRING IID

Gene Ontology (GO) - Biological Process for PDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010510 regulation of acetyl-CoA biosynthetic process from pyruvate TAS --
GO:0016311 dephosphorylation IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PDPR: view

No data available for SIGNOR curated interactions for PDPR Gene

Drugs & Compounds for PDPR Gene

(4) Drugs for PDPR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
spermine Approved Nutra Full agonist, Agonist 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0
Magnesium Nutra 0

(2) Additional Compounds for PDPR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N1-acetylspermine
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
56-18-8
genes like me logo Genes that share compounds with PDPR: view

Transcripts for PDPR Gene

Unigene Clusters for PDPR Gene

Pyruvate dehydrogenase phosphatase regulatory subunit:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDPR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: - -

Relevant External Links for PDPR Gene

GeneLoc Exon Structure for
PDPR
ECgene alternative splicing isoforms for
PDPR

Expression for PDPR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDPR Gene

This gene is overexpressed in Lymph node (8.8) and Uterus (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDPR Gene



Protein tissue co-expression partners for PDPR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDPR Gene:

PDPR

SOURCE GeneReport for Unigene cluster for PDPR Gene:

Hs.744043
genes like me logo Genes that share expression patterns with PDPR: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PDPR Gene

Orthologs for PDPR Gene

This gene was present in the common ancestor of animals.

Orthologs for PDPR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDPR 35
  • 100 (a)
OneToOne
LOC454207 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia PDPR 34 35
  • 91.25 (n)
rat
(Rattus norvegicus)
Mammalia Pdpr 34
  • 88.65 (n)
cow
(Bos Taurus)
Mammalia PDPR 34 35
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Pdpr 34 16 35
  • 88.61 (n)
oppossum
(Monodelphis domestica)
Mammalia PDPR 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDPR 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDPR 34 35
  • 77.36 (n)
lizard
(Anolis carolinensis)
Reptilia PDPR 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdpr 34
  • 72.11 (n)
Str.18754 34
zebrafish
(Danio rerio)
Actinopterygii pdpr 34
  • 71.2 (n)
PDPR 35
  • 70 (a)
OneToOne
zgc63662 34
fruit fly
(Drosophila melanogaster)
Insecta CG3626 34 35
  • 53.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004715 34
  • 52.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y106G6H.5 34
  • 47.22 (n)
Y106G6H.5 35
  • 36 (a)
OneToOne
Species where no ortholog for PDPR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDPR Gene

ENSEMBL:
Gene Tree for PDPR (if available)
TreeFam:
Gene Tree for PDPR (if available)

Paralogs for PDPR Gene

Paralogs for PDPR Gene

(2) SIMAP similar genes for PDPR Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PDPR Gene

genes like me logo Genes that share paralogs with PDPR: view

Variants for PDPR Gene

Sequence variations from dbSNP and Humsavar for PDPR Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs202246074 Likely pathogenic 70,142,278(+) AGACC(A/G/T)GTAGG nc-transcript-variant, reference, missense
rs200469748 untested 70,120,577(+) ACAGC(A/G)CGTCA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1044865 -- 70,161,678(+) CACTA(C/G)CAGTA intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1044867 -- 70,162,064(+) CAGAT(G/T)GGAAG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1044876 -- 70,162,283(+) TCAAT(G/T)TGCAG intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PDPR Gene

Variant ID Type Subtype PubMed ID
dgv5179n54 CNV loss 21841781
dgv5178n54 CNV loss 21841781
dgv486n67 CNV gain 20364138
dgv485n67 CNV loss 20364138
dgv3013n100 CNV gain 25217958
dgv3012n100 CNV loss 25217958
dgv3011n100 CNV gain+loss 25217958
dgv3010n100 CNV gain 25217958
dgv3009n100 CNV gain 25217958
dgv3008n100 CNV gain 25217958
dgv3007n100 CNV loss 25217958
dgv3006n100 CNV loss 25217958
dgv3005n100 CNV gain+loss 25217958
dgv3004n100 CNV gain 25217958
dgv3003n100 CNV gain 25217958
dgv3002n100 CNV loss 25217958
dgv3000n100 CNV gain+loss 25217958
dgv2998n100 CNV gain 25217958
dgv2997n100 CNV loss 25217958
dgv25e213 CNV gain 24956385
dgv1627e59 CNV duplication 20981092
dgv1626e59 CNV duplication 20981092
dgv1365n106 CNV duplication 24896259
nsv1131275 CNV deletion 24896259
nsv1127511 CNV deletion 24896259
nsv1077831 CNV duplication 25765185
nsv1062268 CNV gain+loss 25217958
nsv1060953 CNV gain 25217958
nsv1058068 CNV gain+loss 25217958
esv997919 CNV loss 20482838
esv3892880 CNV loss 25118596
esv3892879 CNV gain 25118596
esv3638945 CNV loss 21293372
esv3638944 CNV gain 21293372
esv3638943 CNV loss 21293372
esv3571465 CNV gain 25503493
esv3571454 CNV gain 25503493
esv3426771 CNV duplication 20981092
esv3411986 CNV duplication 20981092
esv33745 CNV gain+loss 17666407
esv3333319 CNV duplication 20981092
esv29970 CNV loss 17803354
esv2762188 CNV gain+loss 21179565
esv2760404 CNV gain+loss 21179565
esv2758652 CNV gain+loss 17122850
esv2714669 CNV deletion 23290073
esv2657437 CNV deletion 23128226
esv2577915 CNV gain 19546169
esv25519 CNV gain+loss 19812545
esv1007882 CNV loss 20482838
dgv851e212 CNV loss 25503493
dgv850e212 CNV loss 25503493
dgv849e212 CNV gain 25503493
dgv848e212 CNV loss 25503493
dgv527e214 CNV gain 21293372
dgv5185n54 CNV gain 21841781
dgv5184n54 CNV loss 21841781
dgv5183n54 CNV loss 21841781
dgv5182n54 CNV loss 21841781
dgv5181n54 CNV loss 21841781
dgv5180n54 CNV loss 21841781
nsv977992 CNV duplication 23825009
nsv977991 CNV duplication 23825009
nsv960372 CNV duplication 23825009
nsv952048 CNV duplication 24416366
nsv9455 CNV gain+loss 18304495
nsv833271 CNV gain+loss 17160897
nsv833269 CNV loss 17160897
nsv827728 CNV loss 20364138
nsv827723 CNV loss 20364138
nsv827719 CNV gain 20364138
nsv820860 CNV duplication 20802225
nsv820087 CNV loss 19587683
nsv7285 OTHER inversion 18451855
nsv572935 CNV loss 21841781
nsv572931 CNV loss 21841781
nsv572930 CNV loss 21841781
nsv572928 CNV loss 21841781
nsv572927 CNV loss 21841781
nsv572924 CNV loss 21841781
nsv572923 CNV loss 21841781
nsv572918 CNV gain+loss 21841781
nsv572916 CNV loss 21841781
nsv572913 CNV gain 21841781
nsv572912 CNV gain 21841781
nsv514810 CNV gain+loss 21397061
nsv482195 CNV gain 20164927
nsv471695 CNV loss 15918152
nsv471391 CNV gain 19718026
nsv469646 CNV gain 16826518
nsv442725 CNV gain 18776908
nsv436059 CNV insertion 17901297
nsv428328 CNV gain+loss 18775914
nsv1853 CNV deletion 18451855
nsv1160430 CNV duplication 26073780
nsv1149117 CNV duplication 26484159

Variation tolerance for PDPR Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.23; 81.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDPR Gene

Human Gene Mutation Database (HGMD)
PDPR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDPR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDPR Gene

Disorders for PDPR Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDPR Gene - From: DISEASES

Disorder Aliases PubMed IDs
anismus
- elite association - COSMIC cancer census association via MalaCards
Search PDPR in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDPR

Genetic Association Database (GAD)
PDPR
Human Genome Epidemiology (HuGE) Navigator
PDPR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDPR
genes like me logo Genes that share disorders with PDPR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDPR Gene

Publications for PDPR Gene

  1. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PMID: 20808825) Chen X. … Kong X. (PLoS ONE 2010) 3 46 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O. … Koseki H. (DNA Res. 2002) 3 4 64
  5. Cloning, expression, and properties of the regulatory subunit of bovine pyruvate dehydrogenase phosphatase. (PMID: 9395502) Lawson J.E. … Reed L.J. (J. Biol. Chem. 1997) 2 3 64

Products for PDPR Gene

Sources for PDPR Gene

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