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Aliases for PTRF Gene

Aliases for PTRF Gene

  • Polymerase I And Transcript Release Factor 2 3 5
  • Cavin-1 3 4
  • RNA Polymerase I And Transcript Release Factor 3
  • TTF-I Interacting Peptide 12 3
  • CAVIN1 3
  • FKSG13 3
  • CAVIN 3
  • CGL4 3

External Ids for PTRF Gene

Previous GeneCards Identifiers for PTRF Gene

  • GC17M040194
  • GC17M042710
  • GC17M040463
  • GC17M040928
  • GC17M040927
  • GC17M037808
  • GC17M040555
  • GC17M036319

Summaries for PTRF Gene

Entrez Gene Summary for PTRF Gene

  • This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]

GeneCards Summary for PTRF Gene

PTRF (Polymerase I And Transcript Release Factor) is a Protein Coding gene. Diseases associated with PTRF include Lipodystrophy, Congenital Generalized, Type 4 and Congenital Generalized Lipodystrophy. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Cytoskeletal Signaling. GO annotations related to this gene include poly(A) RNA binding and rRNA primary transcript binding. An important paralog of this gene is SDPR.

UniProtKB/Swiss-Prot for PTRF Gene

  • Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex.

Gene Wiki entry for PTRF Gene

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

Genomics for PTRF Gene

Regulatory Elements for PTRF Gene

Enhancers for PTRF 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
GH17F042515 1.7 FANTOM5 Ensembl ENCODE 15.8 -98.4 -98376 12.2 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000267340 MLX TUBG2 ENSG00000267002 PTRF NAGLU RAB5C KAT2A MIR5010 ATP6V0A1
GH17F042308 1.8 FANTOM5 Ensembl ENCODE 11.5 +107.5 107461 15.9 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 TBX21 MEF2D SSRP1 ENSG00000267758 STAT5A MIR5010 HMGN1P29 STAT5B ATP6V0A1 PTRF DHX58 ENSG00000236194 RNU7-97P
GH17F042386 1.2 ENCODE 12.5 +35.1 35070 4.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000267002 KAT2A ENSG00000267340 HSD17B1 PTRF NBR1 LOC108783654 STAT3 P3H4 ENSG00000267765
GH17F042360 1.3 Ensembl ENCODE 11.2 +58.4 58369 8.5 HDGF PKNOX1 ARNT ZFP64 ARID4B FEZF1 ZNF48 ZNF2 YY1 ZNF121 STAT3 PTRF RNU7-97P MLX NT5C3B HSD17B1 AARSD1 TUBG2 IFI35 DHX58
GH17F042484 1.2 Ensembl ENCODE 11.6 -61.1 -61085 0.8 MLX ARID4B DMAP1 SP5 JUNB MXD4 MIER2 TBX21 PPARG KAT8 MIR5010 ATP6V0A1 RNU7-97P PTRF MLX GC17P042485 GC17P042478
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTRF on UCSC Golden Path with GeneCards custom track

Promoters for PTRF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001346575 1517 3601 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF416 FOS

Genomic Location for PTRF Gene

Chromosome:
17
Start:
42,402,449 bp from pter
End:
42,423,517 bp from pter
Size:
21,069 bases
Orientation:
Minus strand

Genomic View for PTRF Gene

Genes around PTRF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTRF Gene

Proteins for PTRF Gene

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

    Protein Symbol:
    Q6NZI2-PTRF_HUMAN
    Recommended name:
    Polymerase I and transcript release factor
    Protein Accession:
    Q6NZI2
    Secondary Accessions:
    • B2RAW7
    • O00535
    • Q6GMY1
    • Q96H74
    • Q9BT85
    • Q9HAP4

    Protein attributes for PTRF Gene

    Size:
    390 amino acids
    Molecular mass:
    43476 Da
    Quaternary structure:
    • Interacts with RNA polymerase I and TTF1. Binds the 3 end of pre-rRNA. Interacts with transcription factor ZNF148 (By similarity). Interacts with LIPE in the adipocyte cytoplasm.

    Alternative splice isoforms for PTRF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTRF Gene

Post-translational modifications for PTRF Gene

  • Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.
  • Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity (By similarity).
  • Ubiquitination at Lys 60, Lys 109, Lys 152, Lys 299, and Lys 317
  • Modification sites at PhosphoSitePlus

Other Protein References for PTRF Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTRF (PTRF)

No data available for DME Specific Peptides for PTRF Gene

Domains & Families for PTRF Gene

Gene Families for PTRF Gene

Protein Domains for PTRF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTRF Gene

Graphical View of Domain Structure for InterPro Entry

Q6NZI2

UniProtKB/Swiss-Prot:

PTRF_HUMAN :
  • Belongs to the PTRF/SDPR family.
Family:
  • Belongs to the PTRF/SDPR family.
genes like me logo Genes that share domains with PTRF: view

Function for PTRF Gene

Molecular function for PTRF Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex.

Gene Ontology (GO) - Molecular Function for PTRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17026959
GO:0019843 rRNA binding IEA --
GO:0042134 rRNA primary transcript binding IDA 9582279
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PTRF: view
genes like me logo Genes that share phenotypes with PTRF: view

Human Phenotype Ontology for PTRF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTRF Gene

MGI Knock Outs for PTRF:

Animal Model Products

miRNA for PTRF Gene

miRTarBase miRNAs that target PTRF

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PTRF Gene

Localization for PTRF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTRF Gene

Membrane, caveola. Cell membrane. Microsome. Endoplasmic reticulum. Cytoplasm, cytosol. Mitochondrion. Nucleus. Note=Found at the surface of the caveolae. Also found in the plasma membrane, microsomal and cytosolic fractions and at a low level in the mitochondrial and nuclear fractions. Translocates to the cytoplasm from caveolae upon insulin stimulation. CAV1 is necessary to recruit it to the cell membrane. Colocalizes with CAV1 in lipid rafts in adipocytes. {ECO:0000269 PubMed:15242332}.

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 PTRF gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 3
cytosol 3

Gene Ontology (GO) - Cellular Components for PTRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15242332
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 17026959
GO:0005739 mitochondrion IEA,IDA 15242332
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with PTRF: view

Pathways & Interactions for PTRF Gene

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

Pathways by source for PTRF Gene

Gene Ontology (GO) - Biological Process for PTRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006353 DNA-templated transcription, termination IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter IDA 9582279
GO:0006363 termination of RNA polymerase I transcription TAS --
genes like me logo Genes that share ontologies with PTRF: view

No data available for SIGNOR curated interactions for PTRF Gene

Drugs & Compounds for PTRF Gene

(3) Drugs for PTRF Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Liver Extracts Pharma 3868
Mitogens Pharma 1526
Vitamins Pharma 5095
genes like me logo Genes that share compounds with PTRF: view

Transcripts for PTRF Gene

mRNA/cDNA for PTRF Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTRF Gene

Polymerase I and transcript release factor:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for PTRF Gene

GeneLoc Exon Structure for
PTRF
ECgene alternative splicing isoforms for
PTRF

Expression for PTRF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTRF Gene

This gene is overexpressed in Adipocyte (16.0), Nasopharynx (8.3), and Bone marrow stromal cell (6.8).

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



Protein tissue co-expression partners for PTRF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTRF Gene:

PTRF

SOURCE GeneReport for Unigene cluster for PTRF Gene:

Hs.437191
genes like me logo Genes that share expression patterns with PTRF: view

Primer Products

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

Orthologs for PTRF Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTRF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTRF 34 35
  • 98.59 (n)
dog
(Canis familiaris)
Mammalia PTRF 34 35
  • 91.79 (n)
cow
(Bos Taurus)
Mammalia PTRF 34 35
  • 91.71 (n)
rat
(Rattus norvegicus)
Mammalia Ptrf 34
  • 91.11 (n)
mouse
(Mus musculus)
Mammalia Ptrf 34 16 35
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia PTRF 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTRF 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTRF 34 35
  • 74.11 (n)
lizard
(Anolis carolinensis)
Reptilia PTRF 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrf 34
  • 69.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia ptrf-prov 34
zebrafish
(Danio rerio)
Actinopterygii ptrfb 34 35
  • 65.58 (n)
ptrfa 35
  • 45 (a)
OneToMany
wufd20g07 34
Species where no ortholog for PTRF 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)
  • fruit fly (Drosophila melanogaster)
  • 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 PTRF Gene

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

Paralogs for PTRF Gene

Paralogs for PTRF Gene

(3) SIMAP similar genes for PTRF Gene using alignment to 1 proteins:

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

Variants for PTRF Gene

Sequence variations from dbSNP and Humsavar for PTRF Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_035982 A breast cancer sample
rs112332573 Likely benign 42,404,933(+) GAGCG(C/T)GCGTA reference, synonymous-codon
rs35648297 Likely benign 42,405,017(+) GGCAC(C/T)AGGCG reference, synonymous-codon
rs139531639 Uncertain significance 42,422,930(+) AGGAG(G/T)CTCAG upstream-variant-2KB, reference, missense
rs146547678 Uncertain significance 42,422,742(+) CGTTG(A/T)CGCTG upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv470586 CNV gain 18288195
nsv575051 CNV gain 21841781
nsv833449 CNV loss 17160897

Variation tolerance for PTRF Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTRF Gene

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

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

Disorders for PTRF Gene

MalaCards: The human disease database

(3) MalaCards diseases for PTRF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 4
  • congenital generalized lipodystrophy type 4
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
lipodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search PTRF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTRF_HUMAN
  • Congenital generalized lipodystrophy 4 (CGL4) [MIM:613327]: A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269 PubMed:19726876, ECO:0000269 PubMed:20684003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTRF

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

No data available for Genatlas for PTRF Gene

Publications for PTRF Gene

  1. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PMID: 15242332) Aboulaich N. … Vener A.V. (Biochem. J. 2004) 3 4 22 64
  2. Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. (PMID: 9582279) Jansa P. … Grummt I. (EMBO J. 1998) 2 3 4 64
  3. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (PMID: 20684003) Shastry S. … Garg A. (Am. J. Med. Genet. A 2010) 3 4 64
  4. Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. (PMID: 19068216) Anderson C.A. … Parkes M. (Gastroenterology 2009) 3 46 64
  5. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. (PMID: 19726876) Hayashi Y.K. … Nishino I. (J. Clin. Invest. 2009) 3 4 64

Products for PTRF Gene

Sources for PTRF Gene

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