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 biogenesi... See more...

Aliases for PPRC1 Gene

Aliases for PPRC1 Gene

  • PPARG Related Coactivator 1 2 3 5
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator-Related Protein 1 3 4
  • PGC-1-Related Coactivator 3 4
  • PRC 3 4
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator-Related 1 2
  • Peroxisome Proliferator-Activated Receptor Gamma, Coactivator-Related 1 3
  • Pgc-1 Related Coactivator 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 (PPARG Related Coactivator 1) is a Protein Coding gene. Diseases associated with PPRC1 include Epithelial Recurrent Erosion Dystrophy and Nemaline Myopathy 5. Among its related pathways are Mitochondrial Gene Expression and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PPARGC1A.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PPRC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPRC1 Gene

Genomics for PPRC1 Gene

GeneHancer (GH) Regulatory Elements for PPRC1 Gene

Promoters and enhancers for PPRC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J102131 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 775.7 +0.6 560 3.5 E2F8 ZNF785 SIN3A ZBTB40 CTCF SIX5 MLX RBPJ SMARCE1 POLR2A PPRC1 ARL3 NOLC1 LDB1 GBF1 NFKB2 OGA HPS6 SFXN2 ENSG00000225208
GH10J101828 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 88.7 -302.0 -302013 4.4 ZNF785 SIN3A SP1 ZNF133 ZNF701 ZFP41 MNT POLR2A MTA3 ZNF148 PPRC1 LDB1 GBF1 NOLC1 MRPL43 LZTS2 HPS6 ENSG00000272572 ARL3 SUFU
GH10J102418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 40.6 +288.0 287952 5.1 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 RBPJ SMARCE1 FBXL15 PSD lnc-PSD-1 PDCD11 PPRC1 ARL3 PCGF6 GBF1 SFXN2 NFKB2
GH10J102743 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 41.5 +611.6 611629 3.2 PPP1R10 E2F8 SP1 ZBTB40 SIX5 RBPJ POLR2A CEBPZ NR2F6 ATF1 WBP1L CYP17A1-AS1 PDCD11 PPRC1 SFXN2 GBF1 TAF5 AS3MT PCGF6 LDB1
GH10J102449 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 40.1 +320.2 320186 8 SREBF1 ZBTB6 SMARCE1 POLR2A ZNF362 MYC ELF1 HLF L3MBTL2 MAX C10orf95 lnc-C10orf95-2 piR-48049-021 PPRC1 PDCD11 PCGF6 CALHM2 ARL3 GBF1 NFKB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPRC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPRC1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • CREB
  • deltaCREB
  • E47
  • Pax-5
  • USF-1
  • YY1

Genomic Locations for PPRC1 Gene

Genomic Locations for PPRC1 Gene
chr10:102,132,994-102,150,333
(GRCh38/hg38)
Size:
17,340 bases
Orientation:
Plus strand
chr10:103,892,787-103,910,090
(GRCh37/hg19)
Size:
17,304 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 Lys1645
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPRC1 Gene

Domains & Families for PPRC1 Gene

Gene Families for PPRC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PPRC1 Gene

Suggested Antigen Peptide Sequences for PPRC1 Gene

GenScript: Design optimal peptide antigens:
  • PGC-1-related coactivator (PPRC1_HUMAN)
genes like me logo Genes that share domains with PPRC1: view

No data available for Graphical View of Domain Structure and 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).

Phenotypes From GWAS Catalog for PPRC1 Gene

Gene Ontology (GO) - Molecular Function for PPRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IBA,IEA 21873635
GO:0003723 RNA binding IEA,HDA 22658674
GO:0008134 transcription factor binding IEA,IBA 21873635
GO:0030374 nuclear receptor transcription coactivator activity IBA 21873635
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

Clone 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
endosome 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS,IDA --
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:0007005 mitochondrion organization TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
GO:0051091 positive regulation of DNA-binding transcription factor activity IBA 21873635
GO:1903506 regulation of nucleic acid-templated transcription IEA --
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

CRISPR Products

Clone 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, 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

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 33 32
  • 98.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPRC1 33 32
  • 87.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPRC1 33 32
  • 86.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pprc1 32
  • 81.99 (n)
mouse
(Mus musculus)
Mammalia Pprc1 17 33 32
  • 81.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPRC1 33
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPRC1 33
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPRC1 33
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPRC1 33
  • 34 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19433 32
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10020 32
zebrafish
(Danio rerio)
Actinopterygii pprc1 33
  • 30 (a)
OneToOne
sbcb478 32
fruit fly
(Drosophila melanogaster)
Insecta Spargel 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPRC1: view image

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 Variation AA Info Type
rs193920990 uncertain-significance, Malignant tumor of prostate 102,139,412(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000093356 -- 102,143,986(+) A/G/T intron_variant
rs1000194324 -- 102,150,419(+) T/G downstream_transcript_variant
rs1000206814 -- 102,120,436(+) CCCCCC/CCCCCCC upstream_transcript_variant
rs1000223621 -- 102,126,297(+) G/A genic_upstream_transcript_variant, 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)

Additional Variant Information for PPRC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

(2) MalaCards diseases for PPRC1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epithelial recurrent erosion dystrophy
  • ered
nemaline myopathy 5
  • nem5
- elite association - COSMIC cancer census association via MalaCards
Search PPRC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPRC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RC (Molecular and cellular biology 2001) 2 3 4 56
  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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  3. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 43 56
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 43 56
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 43 56

Products for PPRC1 Gene

Sources for PPRC1 Gene