Human Gene PPRC1 (uc001kum.3)
  Description: Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.
RefSeq Summary (NM_015062): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:103,892,787-103,910,090 Size: 17,304 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr10:103,892,826-103,909,786 Size: 16,961 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:103,892,787-103,910,090)mRNA (may differ from genome)Protein (1664 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PPRC1_HUMAN
DESCRIPTION: RecName: Full=Peroxisome proliferator-activated receptor gamma coactivator-related protein 1; AltName: Full=PGC-1-related coactivator; Short=PRC;
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.
SUBUNIT: Interacts with CREB1 and NRF1.
SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with NRF1 (By similarity).
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.
INDUCTION: Up-regulated by serum (at protein level).
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.
SEQUENCE CAUTION: Sequence=AAH02561.2; Type=Frameshift; Positions=1643; Sequence=BAA25521.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PPRC1
CDC HuGE Published Literature: PPRC1

-  MalaCards Disease Associations
  MalaCards Gene Search: PPRC1
Diseases sorted by gene-association score: epithelial recurrent erosion dystrophy (13), prosopagnosia (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D010634 Phenobarbital
  • C006253 pirinixic acid
  • C017947 sodium arsenite
  • C016403 2,4-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
  • D016604 Aflatoxin B1
  • D019256 Cadmium Chloride
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.44 RPKM in Fallopian Tube
Total median expression: 395.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.6039-0.246 Picture PostScript Text
3' UTR -81.00304-0.266 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on Q5VV67
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001104 RNA polymerase II transcription cofactor activity
GO:0003676 nucleic acid binding
GO:0003712 transcription cofactor activity
GO:0003723 RNA binding
GO:0008134 transcription factor binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007005 mitochondrion organization
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AF325193 - Homo sapiens PGC-1 related co-activator mRNA, complete cds.
AK299885 - Homo sapiens cDNA FLJ59300 complete cds, highly similar to Homo sapiens peroxisome proliferative activated receptor, gamma, coactivator-related 1, mRNA.
BC063806 - Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1, mRNA (cDNA clone MGC:70989 IMAGE:6514597), complete cds.
AB011167 - Homo sapiens KIAA0595 mRNA for KIAA0595 protein.
BC063829 - Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1, mRNA (cDNA clone MGC:74642 IMAGE:6526680), complete cds.
AK095248 - Homo sapiens cDNA FLJ37929 fis, clone CTONG2002841.
AB384505 - Synthetic construct DNA, clone: pF1KA0595, Homo sapiens PPRC1 gene for peroxisome proliferator-activated receptor gamma, coactivator-related 1, complete cds, without stop codon, in Flexi system.
DQ576388 - Homo sapiens piRNA piR-44500, complete sequence.
AK025691 - Homo sapiens cDNA: FLJ22038 fis, clone HEP08975.
BC002561 - Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1, mRNA (cDNA clone IMAGE:3138538), partial cds.
JD294428 - Sequence 275452 from Patent EP1572962.
JD278115 - Sequence 259139 from Patent EP1572962.
JD446665 - Sequence 427689 from Patent EP1572962.
JD095292 - Sequence 76316 from Patent EP1572962.
JD417917 - Sequence 398941 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5VV67 (Reactome details) participates in the following event(s):

R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0595, NM_015062, NP_055877, PPRC1_HUMAN, Q5VV66, Q5VV67, Q6P3U5, Q6P3W1, Q76N31, Q9BUJ3, Q9BZE5, Q9Y4E0
UCSC ID: uc001kum.3
RefSeq Accession: NM_015062
Protein: Q5VV67 (aka PPRC1_HUMAN)
CCDS: CCDS7529.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015062.3
exon count: 14CDS single in 3' UTR: no RNA size: 5354
ORF size: 4995CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10052.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.