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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 lipodystrophy, familial partial, type 5. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include poly(A) RNA binding and rRNA primary transcript binding. An important paralog of this gene is MURC.

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

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

ENSRs around PTRF on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PTRF Gene at MOPED

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

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

No data available for Gene Families for PTRF Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PTRF Gene COMPARTMENTS Subcellular localization image for PTRF gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for PTRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 17026959
GO:0005739 mitochondrion IDA 15242332
GO:0005901 caveola IEA,IDA 17026959
GO:0045121 membrane raft IDA 25204797
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

Gene Ontology (GO) - Biological Process for PTRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006361 transcription initiation from RNA polymerase I promoter IEA,IDA 9582279
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 3572
Mitogens Pharma 1386
Vitamins Pharma 3857
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:

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 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, MOPED, and MaxQB for PTRF Gene



SOURCE GeneReport for Unigene cluster for PTRF Gene Hs.437191

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

Protein tissue co-expression partners for PTRF 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 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 35
  • 98.59 (n)
  • 98.67 (a)
PTRF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTRF 36
  • 93 (a)
OneToOne
PTRF 35
  • 91.71 (n)
  • 93.08 (a)
dog
(Canis familiaris)
Mammalia PTRF 35
  • 91.79 (n)
  • 93.85 (a)
PTRF 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptrf 36
  • 93 (a)
OneToOne
Ptrf 16
Ptrf 35
  • 91.03 (n)
  • 93.08 (a)
oppossum
(Monodelphis domestica)
Mammalia PTRF 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTRF 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptrf 35
  • 91.11 (n)
  • 94.1 (a)
chicken
(Gallus gallus)
Aves PTRF 36
  • 78 (a)
OneToOne
PTRF 35
  • 74.11 (n)
  • 77.68 (a)
lizard
(Anolis carolinensis)
Reptilia PTRF 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ptrf-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrf 35
  • 69.55 (n)
  • 72.97 (a)
zebrafish
(Danio rerio)
Actinopterygii ptrfa 36
  • 45 (a)
OneToMany
ptrfb 36
  • 50 (a)
OneToMany
ptrfb 35
  • 65.58 (n)
  • 61.96 (a)
wufd20g07 35
Species with no ortholog for PTRF:
  • 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
rs35308568 - 42,405,283(+) CTCCT(C/G)GGGCC reference, missense
VAR_035982 A breast cancer sample
rs9252 -- 42,402,831(-) AGTCA(C/T)AGCCT utr-variant-3-prime
rs963986 -- 42,409,561(+) CTTGA(C/G)CTGAA intron-variant
rs1129422 -- 42,403,781(-) GCATG(A/G)TTGCG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv833449 CNV Loss 17160897
nsv908249 CNV Loss 21882294
nsv470586 CNV Gain 18288195
nsv908250 CNV Loss 21882294
dgv3171n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
PTRF
Human Gene Mutation Database (HGMD)
PTRF

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

Disorders for PTRF Gene

MalaCards: The human disease database

(7) 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
lipodystrophy, familial partial, type 5
  • familial partial lipodystrophy type 5
lipodystrophy, familial partial, type 4
  • familial partial lipodystrophy associated with plin1 mutations
mitchell-riley syndrome
  • mtchrs
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
- 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. 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 67
  2. 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 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma. (PMID: 25822667) Faggi F. … Fanzani A. (Lab. Invest. 2015) 3
  5. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. (PMID: 25721873) Jelani M. … Al-Aama J.Y. (Eur J Med Genet 2015) 3

Products for PTRF Gene

Sources for PTRF Gene

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