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Aliases for PDPR Gene

Aliases for PDPR Gene

  • Pyruvate Dehydrogenase Phosphatase Regulatory Subunit 2 3 5
  • 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and aminomethyltransferase activity. An important paralog of this gene is AMT.

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

Promoters for PDPR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDPR on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PDPR Gene at MOPED

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: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

CRISPR 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
Jensen Localization Image for PDPR Gene 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:0005739 mitochondrion IEA --
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

Gene Ontology (GO) - Biological Process for PDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0044237 cellular metabolic process TAS --
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:

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 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, MOPED, and MaxQB for PDPR Gene



SOURCE GeneReport for Unigene cluster for PDPR Gene Hs.744043

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

Protein tissue co-expression partners for PDPR Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PDPR 35
  • 88.61 (n)
  • 91.57 (a)
PDPR 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDPR 35
  • 91.25 (n)
  • 95.57 (a)
PDPR 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdpr 35
  • 88.61 (n)
  • 92.26 (a)
Pdpr 16
Pdpr 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC454207 35
  • 99.61 (n)
  • 100 (a)
PDPR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdpr 35
  • 88.65 (n)
  • 92.03 (a)
oppossum
(Monodelphis domestica)
Mammalia PDPR 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDPR 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDPR 35
  • 77.36 (n)
  • 83.28 (a)
PDPR 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDPR 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdpr 35
  • 72.11 (n)
  • 79.14 (a)
Str.18754 35
zebrafish
(Danio rerio)
Actinopterygii pdpr 35
  • 71.2 (n)
  • 74.61 (a)
zgc63662 35
PDPR 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004715 35
  • 52.31 (n)
  • 46.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3626 35
  • 53.38 (n)
  • 44.69 (a)
CG3626 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y106G6H.5 35
  • 47.22 (n)
  • 38.7 (a)
Y106G6H.5 36
  • 36 (a)
OneToOne
Species with no ortholog for PDPR:
  • 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
rs2549532 - 70,127,360(+) TCTAC(A/C/T)ATCAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs676578 -- 70,138,670(+) AAATA(A/C)CTCCT intron-variant
rs1808418 -- 70,124,077(-) ccGAG(C/G)CATAA intron-variant
rs889485 -- 70,121,931(-) aacaa(C/T)cagcc intron-variant
rs889486 -- 70,121,918(-) atgtg(A/G)tggtg intron-variant

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

Variant ID Type Subtype PubMed ID
dgv895e1 CNV Complex 17122850
nsv1853 CNV Loss 18451855
dgv2892n71 CNV Gain 21882294
dgv2893n71 CNV Gain 21882294
dgv485n67 CNV Loss 20364138
esv2714669 CNV Deletion 23290073
nsv428328 CNV Gain+Loss 18775914
dgv2895n71 CNV Loss 21882294
nsv436059 CNV Insertion 17901297
esv2657437 CNV Deletion 23128226
dgv2896n71 CNV Gain 21882294
dgv2897n71 CNV Gain 21882294
nsv827719 CNV Gain 20364138
nsv833269 CNV Loss 17160897
nsv827723 CNV Loss 20364138
nsv820087 CNV Loss 19587683
essv1325 CNV CNV 17122850
dgv2898n71 CNV Gain 21882294
nsv469646 CNV Gain 16826518
nsv471695 CNV Loss 15918152
dgv2899n71 CNV Gain 21882294
esv33745 CNV Gain+Loss 17666407
dgv896e1 CNV Complex 17122850
esv997919 CNV Loss 20482838
dgv2900n71 CNV Gain 21882294
dgv2901n71 CNV Gain 21882294
nsv9455 CNV Gain+Loss 18304495
esv25519 CNV Gain+Loss 19812545
dgv486n67 CNV Gain 20364138
nsv820860 CNV Duplication 20802225
nsv471391 CNV Duplication 19718026
nsv482195 CNV Gain 20164927
nsv514810 CNV Complex 21397061
nsv442725 CNV CNV 18776908
nsv827728 CNV Loss 20364138
esv1007882 CNV Loss 20482838
nsv906863 CNV Gain 21882294
nsv7285 OTHER Inversion 18451855
dgv2902n71 CNV Gain 21882294
esv2577915 CNV Gain 19546169
esv29970 CNV Loss 17803354
nsv906866 CNV Gain 21882294
nsv833271 CNV Gain+Loss 17160897
nsv906867 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
PDPR
Human Gene Mutation Database (HGMD)
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 48 67
  2. 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
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for PDPR Gene

Sources for PDPR Gene

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