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Aliases for PPRC1 Gene

Aliases for PPRC1 Gene

  • Peroxisome Proliferator-Activated Receptor Gamma, Coactivator-Related 1 2 3 5
  • PGC-1-Related Coactivator 3 4
  • PRC 3 4
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator-Related Protein 1 3
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator-Related 1 2
  • KIAA0595 4

External Ids for PPRC1 Gene

Previous GeneCards Identifiers for PPRC1 Gene

  • GC10P103558
  • GC10P103882
  • GC10P097524

Summaries for PPRC1 Gene

Entrez Gene Summary for PPRC1 Gene

  • The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GeneCards Summary for PPRC1 Gene

PPRC1 (Peroxisome Proliferator-Activated Receptor Gamma, Coactivator-Related 1) is a Protein Coding gene. Diseases associated with PPRC1 include Epithelial Recurrent Erosion Dystrophy. Among its related pathways are Mitochondrial Gene Expression and Organelle biogenesis and maintenance. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PPARGC1B.

UniProtKB/Swiss-Prot for PPRC1 Gene

  • Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes.

Gene Wiki entry for PPRC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPRC1 Gene

Genomics for PPRC1 Gene

Regulatory Elements for PPRC1 Gene

Enhancers for PPRC1 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
GH10G101828 1.7 FANTOM5 ENCODE dbSUPER 46.7 -302.0 -302011 4.4 HDGF PKNOX1 ARNT CREB3L1 AGO1 SIN3A ARID4B ZNF2 ZBTB7B ZNF766 LDB1 PPRC1 GBF1 HPS6 SUFU SFXN2 ENSG00000272572 KCNIP2 ARL3 TWNK
GH10G102772 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.3 +645.7 645692 11.8 FOXA2 PKNOX1 ZFP64 SIN3A YY1 ZNF121 GLIS2 GATA2 FOS ZNF263 PDCD11 SFXN2 ARL3 PPRC1 TAF5 LDB1 AS3MT INA BORCS7 CYP17A1
GH10G101224 1.1 ENCODE 27 -905.0 -905041 6.5 PKNOX1 FOXA2 DMAP1 FEZF1 ZNF2 YY1 ZNF766 ZNF548 SP3 JUNB PHBP9 PPRC1 LDB1 CHUK ENSG00000272572 C10orf76 HPS6 LBX1-AS1 SFXN3 GC10M101227
GH10G102111 1.8 FANTOM5 ENCODE dbSUPER 13.8 -15.3 -15261 11.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 CBX5 LDB1 HPS6 PPRC1 NOLC1 BORCS7 NFKB2 C10orf95 KCNIP2-AS1 KCNIP2 PSD
GH10G102987 1.3 Ensembl ENCODE 18.1 +856.0 855961 2.4 FOXA2 ATF1 ARID4B FEZF1 BRCA1 YY1 TCF12 GTF3C2 ZNF766 GATA2 AS3MT PDCD11 PPRC1 GBF1 HPS6 LDB1 ENSG00000260461 CNNM2 SLK RNU11-3P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPRC1 on UCSC Golden Path with GeneCards custom track

Promoters for PPRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032693 606 2001 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263

Genomic Location for PPRC1 Gene

Chromosome:
10
Start:
102,132,994 bp from pter
End:
102,150,333 bp from pter
Size:
17,340 bases
Orientation:
Plus strand

Genomic View for PPRC1 Gene

Genes around PPRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPRC1 Gene

Proteins for PPRC1 Gene

  • Protein details for PPRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VV67-PPRC1_HUMAN
    Recommended name:
    Peroxisome proliferator-activated receptor gamma coactivator-related protein 1
    Protein Accession:
    Q5VV67
    Secondary Accessions:
    • Q5VV66
    • Q6P3U5
    • Q6P3W1
    • Q76N31
    • Q9BUJ3
    • Q9BZE5
    • Q9Y4E0

    Protein attributes for PPRC1 Gene

    Size:
    1664 amino acids
    Molecular mass:
    177544 Da
    Quaternary structure:
    • Interacts with CREB1 and NRF1.
    SequenceCaution:
    • Sequence=AAH02561.2; Type=Frameshift; Positions=1643; Evidence={ECO:0000305}; Sequence=BAA25521.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PPRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPRC1 Gene

Post-translational modifications for PPRC1 Gene

  • Ubiquitination at posLast=16451645
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPRC1 Gene

Domains & Families for PPRC1 Gene

Gene Families for PPRC1 Gene

Protein Domains for PPRC1 Gene

Suggested Antigen Peptide Sequences for PPRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PPRC1: view

No data available for UniProtKB/Swiss-Prot for PPRC1 Gene

Function for PPRC1 Gene

Molecular function for PPRC1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes.
UniProtKB/Swiss-Prot Induction:
Up-regulated by serum (at protein level).

Gene Ontology (GO) - Molecular Function for PPRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001104 RNA polymerase II transcription cofactor activity IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 22658674
GO:0008134 transcription factor binding IBA --
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity IBA --
genes like me logo Genes that share ontologies with PPRC1: view
genes like me logo Genes that share phenotypes with PPRC1: view

Animal Models for PPRC1 Gene

MGI Knock Outs for PPRC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPRC1 Gene

Localization for PPRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPRC1 Gene

Nucleus. Note=Colocalizes with NRF1. {ECO:0000250}.

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 PPRC1 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
endosome 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PPRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with PPRC1: view

Pathways & Interactions for PPRC1 Gene

genes like me logo Genes that share pathways with PPRC1: view

Pathways by source for PPRC1 Gene

Gene Ontology (GO) - Biological Process for PPRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007005 mitochondrion organization TAS --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IBA --
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with PPRC1: view

No data available for SIGNOR curated interactions for PPRC1 Gene

Drugs & Compounds for PPRC1 Gene

No Compound Related Data Available

Transcripts for PPRC1 Gene

Unigene Clusters for PPRC1 Gene

Peroxisome proliferator-activated receptor gamma, coactivator-related 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPRC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7: - - - -
SP8: - - - - - -
SP9: - -
SP10:
SP11: -
SP12:
SP13:

ExUns: 14a · 14b ^ 15a · 15b ^ 16 ^ 17
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PPRC1 Gene

GeneLoc Exon Structure for
PPRC1
ECgene alternative splicing isoforms for
PPRC1

Expression for PPRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPRC1 Gene

This gene is overexpressed in Retina (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPRC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PPRC1 Gene:

PPRC1

SOURCE GeneReport for Unigene cluster for PPRC1 Gene:

Hs.533551

mRNA Expression by UniProt/SwissProt for PPRC1 Gene:

Q5VV67-PPRC1_HUMAN
Tissue specificity: Strongly expressed in heart and skeletal muscle, moderately in lung, placenta, intestine, liver, kidney, spleen, thymus, colon and brain. Also expressed in several oncocytic thyroid tumors.

Evidence on tissue expression from TISSUES for PPRC1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with PPRC1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPRC1 Gene

Orthologs for PPRC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPRC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPRC1 34 35
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia PPRC1 34 35
  • 87.9 (n)
cow
(Bos Taurus)
Mammalia PPRC1 34 35
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Pprc1 34
  • 81.99 (n)
mouse
(Mus musculus)
Mammalia Pprc1 34 16 35
  • 81.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPRC1 35
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPRC1 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPRC1 35
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPRC1 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10020 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19433 34
zebrafish
(Danio rerio)
Actinopterygii pprc1 35
  • 30 (a)
OneToOne
sbcb478 34
fruit fly
(Drosophila melanogaster)
Insecta Spargel 35
  • 18 (a)
OneToMany
Species where no ortholog for PPRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PPRC1 Gene

ENSEMBL:
Gene Tree for PPRC1 (if available)
TreeFam:
Gene Tree for PPRC1 (if available)

Paralogs for PPRC1 Gene

Paralogs for PPRC1 Gene

genes like me logo Genes that share paralogs with PPRC1: view

Variants for PPRC1 Gene

Sequence variations from dbSNP and Humsavar for PPRC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs193920990 Uncertain significance 102,139,412(+) AGAGC(A/G)TCTCC nc-transcript-variant, reference, missense
rs1000093356 -- 102,143,986(+) CATAG(A/T)TCACC intron-variant
rs1000194324 -- 102,150,419(+) CTCCC(G/T)GGTCA downstream-variant-500B, upstream-variant-2KB
rs1000266996 -- 102,132,124(+) AAAGC(A/G)TCAAT upstream-variant-2KB
rs1000304010 -- 102,137,542(+) GCTGC(C/T)AGTAG intron-variant

Variation tolerance for PPRC1 Gene

Residual Variation Intolerance Score: 2.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.64; 65.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPRC1 Gene

Human Gene Mutation Database (HGMD)
PPRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPRC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPRC1 Gene

Disorders for PPRC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPRC1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
epithelial recurrent erosion dystrophy
  • dystrophia helsinglandica
- elite association - COSMIC cancer census association via MalaCards
Search PPRC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PPRC1

Genetic Association Database (GAD)
PPRC1
Human Genome Epidemiology (HuGE) Navigator
PPRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPRC1
genes like me logo Genes that share disorders with PPRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPRC1 Gene

Publications for PPRC1 Gene

  1. Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells. (PMID: 11340167) Andersson U. … Scarpulla R.C. (Mol. Cell. Biol. 2001) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
  3. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E. … Dekker J.M. (Eur. J. Hum. Genet. 2009) 3 46 64
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for PPRC1 Gene

Sources for PPRC1 Gene

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