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FLASH GENE
Symbol PTRF contributors: mct/npt - updated : 16-03-2016
HGNC name polymerase I and transcript release factor
HGNC id 9688
Corresponding disease
CGL4 congenital generalized lipodystrophy type 4
Location 17q21.2      Physical location : 40.554.468 - 40.575.338
Synonym name
  • TTF-I interacting peptide 12
  • RNA polymerase I and transcript release factor
  • Pol I and transcription release factor
  • cavin 1
  • Synonym symbol(s) FKSG13, Cav-p60, FLJ90031, CAVIN, CAVIN1, CGL4, cavin-1
    DNA
    TYPE functioning gene
    STRUCTURE 20.81 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    RAB5C 17q21 RAB5C, member RAS oncogene family KCNH4 17q21.31 potassium voltage-gated channel, subfamily H (eag-related), member 4 HCRT 17q21 hypocretin (orexin) neuropeptide precursor LGP1 17q21.2 hypocretin (orexin) neuropeptide precursor STAT5B 17q11.2 signal transducer and activator of transcription 5B STAT5A 17q11.2 signal transducer and activator of transcription 5A MGC16063 17q21.31 hypothetical protein MGC16063 STAT3 17q21 signal transducer and activator of transcription 3 (acute-phase response factor) PTRF 17q21.2 polymerase I and transcript release factor ATP6V0A1 17q21.3 ATPase, H+ transporting, lysosomal V0 subunit a isoform 1 NAGLU 17q21.1 N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) HSD17BP1 17q11-q21 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 HSD17B1 17q21.1 hydroxysteroid (17-beta) dehydrogenase 1 DPCK 17q12-q21 bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase TCFL4 17q21.1 transcription factor-like 4 HUMGT198A 17q12-q21 GT198, complete ORF LOC162427 17q21.31 hypothetical protein LOC162427 TUBG1 17q21 tubulin, gamma 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3651 - 390 - 2008 18056712
    - - - - 322 - 2008 18056712
  • also called eGFP-cavin
  • lacks 74 amino acids from the C-terminal and reveals a microtubular network localization
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularsmooth   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificadipocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal leucine-zipper motif essential for the protein to be associated with caveolae in plasma membrane
  • nuclear localization sequences
  • a leucine zipper (LZ)
  • a PKC-binding site
  • a PKC phosphorylation site
  • a PS-binding site
  • two PEST domains
  • HOMOLOGY
    interspecies homolog to murine Ptrf
    Homologene
    FAMILY
  • STICK (substrates that interact with C-kinase) superfamily of PKC-binding proteins
  • PTRF/SDPR family
  • cavin protein family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text localized to caveolae, and presence of cavin on the inside surface of caveolae stabilizes these structures, probably through interaction with the cytoskeleton
    basic FUNCTION
  • playing a role in the dissociation of paused ternary complexes
  • playing a role in insulin transcriptional control
  • required for caveola formation and sequestration of mobile caveolin into immobile caveolae
  • plays an important role in caveolae formation and organization
  • implicated in regulating caveolae function (Hill 2008)
  • function as caveolin adapter molecules that regulate caveolae function (McMahon 2009)
  • essential for caveolae biogenesis (Rajab 2010)
  • PTRF is a novel regulator of oxidative stress-induced premature senescence by acting as a link between free radicals and activation of the TP53/CDKN1A pathway
  • quantitatively reduced cell migration, and induced mesenchymal epithelial reversion
  • PTRF, a structural protein of caveolae, modulates the oncogenic function of CAV1 and cooperates with CAV1 to enhance pancreatic cancer aggressiveness
  • membrane dynamics in cell migration is affected by caveolae associated PTRF
  • PTRF is associated with CAV1 at the time of receptivity
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major protein component of caveolae
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in the plasma membrane specifically bound to a triacylglycerol-metabolizing subclass of caveolae containing hormone-sensitive lipase
  • interacting with Caveolin-1 (play a functional role on fatty acid uptake)
  • SDPR binds directly to PTRF and recruits PTRF to caveolar membranes
  • role of PTRF in cellular senescence is dependent on its targeting to caveolae and its interaction with CAV1, which appeared to be regulated by the phosphorylation of PTRF
  • is essential for normal oligomerization of CAV1
  • PRKCDBP is targeted to caveolae by PTRF where it interacts with the scaffolding domain of CAV11 and promote caveolae dynamics
  • PTRF actively cooperating with CAV1 in the morphogenesis of caveolae, and interaction between PTRF and CAV1 underlies the cell growth and migration in myogenic tumors
  • cell & other
    REGULATION
    inhibited by hypoxia that inhibits SDPR and PTRF expression, resulting in the disappearance of caveolae
    ASSOCIATED DISORDERS
    corresponding disease(s) CGL4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate cancer cells contributes significantly to tumour progression and metastasis by promoting the angiogenesis and lymphangiogenesis potential of the cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be a suitable adipocyte marker for predicting pathological obesity and inform clinical management
  • Therapy target
    ANIMAL & CELL MODELS