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Ptrf Gene Detail
Summary
  • Symbol
    Ptrf
  • Name
    polymerase I and transcript release factor
  • Synonyms
    2310075E07Rik, Cavin, cavin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277968
    NCBI Gene: 19285
  • Gene Overview
    MyGene.info: PTRF
Location & Maps
more
  • Sequence Map
    Chr11:100956733-100970887 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14155 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PTRF, polymerase I and transcript release factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTRF, polymerase I and transcript release factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAVIN, cavin-1, CAVIN1, CGL4, FKSG13
  • Links
    NCBI Gene ID: 284119
    neXtProt AC: NX_Q6NZI2

  • Chr Location
    17q21.2; chr17:42402449-42423320 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7499
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PTRF
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ptrf mouse models; 1 with human PTRF associations

Human Disease Mouse Models
       Lipodystrophy, Congenital Generalized, Type 4; CGL4   OMIM: 613327 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 1 allele in 2 genetic backgrounds
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    4
  • Targeted
    5
  • Genomic Mutations
    1 involving Ptrf
  • Incidental Mutations
    APF
Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002126 VEGA Gene Model | MGI Sequence Detail 14155 C57BL/6J ±  kb
transcript OTTMUST00000004316 VEGA | MGI Sequence Detail 3491 Not Applicable  
polypeptide OTTMUSP00000002049 VEGA | MGI Sequence Detail 392 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    98 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013483 polymerase I and transcript release factor
  • PDB
  • InterPro Domains
    IPR026752 Cavin family
Molecular
Reagents
less
  • All nucleic 99
    cDNA 98
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1916919, MGI:2144560
References
more
  • Summaries
    All 52
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 10
    Phenotypes 21
  • Earliest
    J:48217 Jansa P, et al., Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. EMBO J. 1998 May 15;17(10):2855-64
  • Latest
    J:227519 Lo HP, et al., The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle. J Cell Biol. 2015 Aug 31;210(5):833-49

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory