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PRF1 (perforin 1)

Identity

Other namesFLH2
HPLH2
P1
PFN1
PFP
HGNC (Hugo) PRF1
LocusID (NCBI) 5551
Atlas_Id 41839
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

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Autoimmune lymphoproliferative syndrome Dianzani autoimmune lymphoproliferative disease (DALD)

External links

Nomenclature
HGNC (Hugo)PRF1   9360
Cards
Entrez_Gene (NCBI)PRF1  5551  perforin 1
AliasesFLH2; HPLH2; P1; PFN1; 
PFP
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
TCGA 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   609135   
Gene and transcription
Genbank (Entrez)AB209604 AK312754 BC047695 BC063043 BQ051559
RefSeq transcript (Entrez)NM_001083116 NM_005041
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_009615 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)PRF1
Cluster EST : UnigeneHs.2200 [ NCBI ]
CGAP (NCI)Hs.2200
Alternative Splicing GalleryENSG00000180644
Gene ExpressionPRF1 [ NCBI-GEO ]   PRF1 [ EBI - ARRAY_EXPRESS ]   PRF1 [ SEEK ]   PRF1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5551
GTEX Portal (Tissue expression)PRF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14222 (Uniprot)
NextProtP14222  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14222
Splice isoforms : SwissVarP14222 (Swissvar)
PhosPhoSitePlusP14222
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    MACPF_1 (PS00279)    MACPF_2 (PS51412)   
Domains : Interpro (EBI)C2_dom    MACPF    MACPF_CS   
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)PRF1
SuperfamilyP14222
Human Protein AtlasENSG00000180644
Peptide AtlasP14222
HPRD01362
IPIIPI00293423   
Protein Interaction databases
DIP (DOE-UCLA)P14222
IntAct (EBI)P14222
FunCoupENSG00000180644
BioGRIDPRF1
STRING (EMBL)PRF1
ZODIACPRF1
Ontologies - Pathways
QuickGOP14222
Ontology : AmiGOimmunological synapse formation  defense 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-EBIimmunological synapse formation  defense 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   
NDEx Network
Atlas of Cancer Signalling NetworkPRF1
Wikipedia pathwaysPRF1
Orthology - Evolution
OrthoDB5551
GeneTree (enSembl)ENSG00000180644
Phylogenetic Trees/Animal Genes : TreeFamPRF1
Homologs : HomoloGenePRF1
Homology/Alignments : Family Browser (UCSC)PRF1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPRF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRF1
dbVarPRF1
ClinVarPRF1
1000_GenomesPRF1 
Exome Variant ServerPRF1
ExAC (Exome Aggregation Consortium)PRF1 (select the gene name)
Genetic variants : HAPMAP5551
Genomic Variants (DGV)PRF1 [DGVbeta]
Mutations
ICGC Data PortalPRF1 
TCGA Data PortalPRF1 
Broad Tumor PortalPRF1
OASIS PortalPRF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPRF1 
Somatic Mutations in Cancer : COSMICPRF1 
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
BioMutasearch PRF1
DgiDB (Drug Gene Interaction Database)PRF1
DoCM (Curated mutations)PRF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRF1 (select a term)
intoGenPRF1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:72357104-72362531  ENSG00000180644
CONAN: Copy Number AnalysisPRF1 
Mutations and Diseases : HGMDPRF1
OMIM170280    603553    605027    609135   
MedgenPRF1
Genetic Testing Registry PRF1
NextProtP14222 [Medical]
TSGene5551
GENETestsPRF1
Huge Navigator PRF1 [HugePedia]
snp3D : Map Gene to Disease5551
BioCentury BCIQPRF1
ClinGenPRF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5551
Chemical/Pharm GKB GenePA33732
Clinical trialPRF1
Miscellaneous
canSAR (ICR)PRF1 (select the gene name)
Probes
Litterature
PubMed176 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRF1
EVEXPRF1
GoPubMedPRF1
iHOPPRF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:16:59 CEST 2016

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