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PTRF (polymerase I and transcript release factor)

Identity

Alias_symbol (synonym)cavin-1
CAVIN1
Other aliasCAVIN
CGL4
FKSG13
HGNC (Hugo) PTRF
LocusID (NCBI) 284119
Atlas_Id 52269
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40554467 and ends at 40575338 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GATAD2B (1q21.3) / PTRF (17q21.2)PTRF (17q21.2) / ATP6V1A (3q13.2)PTRF (17q21.2) / CDC42EP5 (19q13.42)
PTRF (17q21.2) / GSTM2 (1p13.3)PTRF (17q21.2) / LOC653160 (1p34.3)PTRF (17q21.2) / PTRF (17q21.2)
PTRF (17q21.2) / TSC22D3 (Xq22.3)PTRF (17q21.2) / UBE2L3 (22q11.21)RPL13 (16q24.3) / PTRF (17q21.2)
SRI (7q21.12) / PTRF (17q21.2)STAT3 (17q21.2) / PTRF (17q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PTRF   9688
Cards
Entrez_Gene (NCBI)PTRF  284119  polymerase I and transcript release factor
AliasesCAVIN; CAVIN1; CGL4; FKSG13; 
cavin-1
GeneCards (Weizmann)PTRF
Ensembl hg19 (Hinxton)ENSG00000177469 [Gene_View]  chr17:40554467-40575338 [Contig_View]  PTRF [Vega]
Ensembl hg38 (Hinxton)ENSG00000177469 [Gene_View]  chr17:40554467-40575338 [Contig_View]  PTRF [Vega]
ICGC DataPortalENSG00000177469
TCGA cBioPortalPTRF
AceView (NCBI)PTRF
Genatlas (Paris)PTRF
WikiGenes284119
SOURCE (Princeton)PTRF
Genetics Home Reference (NIH)PTRF
Genomic and cartography
GoldenPath hg19 (UCSC)PTRF  -     chr17:40554467-40575338 -  17q21.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTRF  -     17q21.2   [Description]    (hg38-Dec_2013)
EnsemblPTRF - 17q21.2 [CytoView hg19]  PTRF - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIPTRF [Mapview hg19]  PTRF [Mapview hg38]
OMIM603198   613327   
Gene and transcription
Genbank (Entrez)AF000421 AF312393 AK000715 AK074512 AK092406
RefSeq transcript (Entrez)NM_012232
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_015845 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)PTRF
Cluster EST : UnigeneHs.437191 [ NCBI ]
CGAP (NCI)Hs.437191
Alternative Splicing GalleryENSG00000177469
Gene ExpressionPTRF [ NCBI-GEO ]   PTRF [ EBI - ARRAY_EXPRESS ]   PTRF [ SEEK ]   PTRF [ MEM ]
Gene Expression Viewer (FireBrowse)PTRF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284119
GTEX Portal (Tissue expression)PTRF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NZI2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NZI2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NZI2
Splice isoforms : SwissVarQ6NZI2
PhosPhoSitePlusQ6NZI2
Domains : Interpro (EBI)Cavin_fam   
Domain families : Pfam (Sanger)PTRF_SDPR (PF15237)   
Domain families : Pfam (NCBI)pfam15237   
Conserved Domain (NCBI)PTRF
DMDM Disease mutations284119
Blocks (Seattle)PTRF
SuperfamilyQ6NZI2
Human Protein AtlasENSG00000177469
Peptide AtlasQ6NZI2
HPRD04433
IPIIPI00176903   IPI00513773   IPI01014936   IPI00514023   
Protein Interaction databases
DIP (DOE-UCLA)Q6NZI2
IntAct (EBI)Q6NZI2
FunCoupENSG00000177469
BioGRIDPTRF
STRING (EMBL)PTRF
ZODIACPTRF
Ontologies - Pathways
QuickGOQ6NZI2
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  cytosol  caveola  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  termination of RNA polymerase I transcription  termination of RNA polymerase I transcription  rRNA primary transcript binding  protein complex  poly(A) RNA binding  membrane raft  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  cytosol  caveola  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase I promoter  termination of RNA polymerase I transcription  termination of RNA polymerase I transcription  rRNA primary transcript binding  protein complex  poly(A) RNA binding  membrane raft  
NDEx NetworkPTRF
Atlas of Cancer Signalling NetworkPTRF
Wikipedia pathwaysPTRF
Orthology - Evolution
OrthoDB284119
GeneTree (enSembl)ENSG00000177469
Phylogenetic Trees/Animal Genes : TreeFamPTRF
HOVERGENQ6NZI2
HOGENOMQ6NZI2
Homologs : HomoloGenePTRF
Homology/Alignments : Family Browser (UCSC)PTRF
Gene fusions - Rearrangements
Fusion : MitelmanSTAT3/PTRF [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTRF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTRF
dbVarPTRF
ClinVarPTRF
1000_GenomesPTRF 
Exome Variant ServerPTRF
ExAC (Exome Aggregation Consortium)PTRF (select the gene name)
Genetic variants : HAPMAP284119
Genomic Variants (DGV)PTRF [DGVbeta]
DECIPHER (Syndromes)17:40554467-40575338  ENSG00000177469
CONAN: Copy Number AnalysisPTRF 
Mutations
ICGC Data PortalPTRF 
TCGA Data PortalPTRF 
Broad Tumor PortalPTRF
OASIS PortalPTRF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTRF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTRF
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTRF
DgiDB (Drug Gene Interaction Database)PTRF
DoCM (Curated mutations)PTRF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTRF (select a term)
intoGenPTRF
Cancer3DPTRF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603198    613327   
Orphanet19133   
MedgenPTRF
Genetic Testing Registry PTRF
NextProtQ6NZI2 [Medical]
TSGene284119
GENETestsPTRF
Huge Navigator PTRF [HugePedia]
snp3D : Map Gene to Disease284119
BioCentury BCIQPTRF
ClinGenPTRF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284119
Chemical/Pharm GKB GenePA34031
Clinical trialPTRF
Miscellaneous
canSAR (ICR)PTRF (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTRF
EVEXPTRF
GoPubMedPTRF
iHOPPTRF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:23:42 CET 2017

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