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PRF1 (perforin 1 (pore forming protein))

Identity

Other namesFLH2
HPLH2
P1
PFN1
PFP
HGNC (Hugo) PRF1
LocusID (NCBI) 5551
Location 10q22.1
Location_base_pair Starts at 72357104 and ends at 72362531 bp from pter ( according to hg19-Feb_2009)
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)PRF1   9360
Cards
Entrez_Gene (NCBI)PRF1  5551  perforin 1 (pore forming protein)
GeneCards (Weizmann)PRF1
Ensembl hg19 (Hinxton)ENSG00000180644 [Gene_View]  chr10:72357104-72362531 [Contig_View]  PRF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000180644 [Gene_View]  chr10:72357104-72362531 [Contig_View]  PRF1 [Vega]
ICGC DataPortalENSG00000180644
cBioPortalPRF1
AceView (NCBI)PRF1
Genatlas (Paris)PRF1
WikiGenes5551
SOURCE (Princeton)PRF1
Genomic and cartography
GoldenPath hg19 (UCSC)PRF1  -     chr10:72357104-72362531 -  10q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRF1  -     10q22.1   [Description]    (hg38-Dec_2013)
EnsemblPRF1 - 10q22.1 [CytoView hg19]  PRF1 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIPRF1 [Mapview hg19]  PRF1 [Mapview hg38]
OMIM170280   603553   605027   
Gene and transcription
Genbank (Entrez)AB209604 AK312754 BC047695 BC063043 BQ051559
RefSeq transcript (Entrez)NM_001083116 NM_005041
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_009615 NT_030059 NW_001837986 NW_004929376
Consensus coding sequences : CCDS (NCBI)PRF1
Cluster EST : UnigeneHs.2200 [ NCBI ]
CGAP (NCI)Hs.2200
Alternative Splicing : Fast-db (Paris)GSHG0004141
Alternative Splicing GalleryENSG00000180644
Gene ExpressionPRF1 [ NCBI-GEO ]     PRF1 [ SEEK ]   PRF1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14222 (Uniprot)
NextProtP14222  [Medical]
With graphics : InterProP14222
Splice isoforms : SwissVarP14222 (Swissvar)
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MACPF_1 (PS00279)    MACPF_2 (PS51412)   
Domains : Interpro (EBI)C2_dom    MACPF    MACPF_CS   
Related proteins : CluSTrP14222
Domain families : Pfam (Sanger)C2 (PF00168)    MACPF (PF01823)   
Domain families : Pfam (NCBI)pfam00168    pfam01823   
Domain families : Smart (EMBL)C2 (SM00239)  MACPF (SM00457)  
DMDM Disease mutations5551
Blocks (Seattle)P14222
Human Protein AtlasENSG00000180644
Peptide AtlasP14222
HPRD01362
IPIIPI00293423   
Protein Interaction databases
DIP (DOE-UCLA)P14222
IntAct (EBI)P14222
FunCoupENSG00000180644
BioGRIDPRF1
IntegromeDBPRF1
STRING (EMBL)PRF1
Ontologies - Pathways
QuickGOP14222
Ontology : AmiGOdefense response to tumor cell  immune response to tumor cell  calcium ion binding  protein binding  extracellular region  plasma membrane  apoptotic process  cellular defense response  membrane  integral component of membrane  cytoplasmic membrane-bounded vesicle  cytolysis  wide pore channel activity  endosome lumen  cytolytic granule  protein homooligomerization  defense response to virus  transmembrane transport  transmembrane transport  
Ontology : EGO-EBIdefense response to tumor cell  immune response to tumor cell  calcium ion binding  protein binding  extracellular region  plasma membrane  apoptotic process  cellular defense response  membrane  integral component of membrane  cytoplasmic membrane-bounded vesicle  cytolysis  wide pore channel activity  endosome lumen  cytolytic granule  protein homooligomerization  defense response to virus  transmembrane transport  transmembrane transport  
Pathways : BIOCARTAD4-GDI Signaling Pathway [Genes]    Granzyme A mediated Apoptosis Pathway [Genes]    Caspase Cascade in Apoptosis [Genes]    CTL mediated immune response against target cells [Genes]   
Pathways : KEGGNatural killer cell mediated cytotoxicity    Type I diabetes mellitus    Autoimmune thyroid disease    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
Protein Interaction DatabasePRF1
DoCM (Curated mutations)PRF1
Wikipedia pathwaysPRF1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPRF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRF1
dbVarPRF1
ClinVarPRF1
1000_GenomesPRF1 
Exome Variant ServerPRF1
SNP (GeneSNP Utah)PRF1
SNP : HGBasePRF1
Genetic variants : HAPMAPPRF1
Genomic VariantsPRF1  PRF1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000180644 
Cancer Gene: CensusPRF1 
Somatic Mutations in Cancer : COSMICPRF1 
CONAN: Copy Number AnalysisPRF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:72357104-72362531
Mutations and Diseases : HGMDPRF1
OMIM170280    603553    605027   
MedgenPRF1
NextProtP14222 [Medical]
GENETestsPRF1
Disease Genetic AssociationPRF1
Huge Navigator PRF1 [HugePedia]  PRF1 [HugeCancerGEM]
snp3D : Map Gene to Disease5551
DGIdb (Drug Gene Interaction db)PRF1
General knowledge
Homologs : HomoloGenePRF1
Homology/Alignments : Family Browser (UCSC)PRF1
Phylogenetic Trees/Animal Genes : TreeFamPRF1
Chemical/Protein Interactions : CTD5551
Chemical/Pharm GKB GenePA33732
Clinical trialPRF1
Cancer Resource (Charite)ENSG00000180644
Other databases
Probes
Litterature
PubMed153 Pubmed reference(s) in Entrez
CoreMinePRF1
GoPubMedPRF1
iHOPPRF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:57:50 CET 2014

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