Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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 (Hinxton)ENSG00000180644 [Gene_View]  chr10:72357104-72362531 [Contig_View]  PRF1 [Vega]
ICGC DataPortalENSG00000180644
cBioPortalPRF1
AceView (NCBI)PRF1
Genatlas (Paris)PRF1
WikiGenes5551
SOURCE (Princeton)NM_001083116 NM_005041
Genomic and cartography
GoldenPath (UCSC)PRF1  -  10q22.1   chr10:72357104-72362531 -  10q22.1   [Description]    (hg19-Feb_2009)
EnsemblPRF1 - 10q22.1 [CytoView]
Mapping of homologs : NCBIPRF1 [Mapview]
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 ]
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 [organisation]   MACPF [organisation]   MACPF_CS [organisation]  
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 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP14222
HPRD01362
IPIIPI00293423   
Protein Interaction databases
DIP (DOE-UCLA)P14222
IntAct (EBI)P14222
FunCoupENSG00000180644
BioGRIDPRF1
InParanoidP14222
Interologous Interaction database P14222
IntegromeDBPRF1
STRING (EMBL)PRF1
Ontologies - Pathways
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
Wikipedia pathwaysPRF1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PRF1
snp3D : Map Gene to Disease5551
SNP (GeneSNP Utah)PRF1
SNP : HGBasePRF1
Genetic variants : HAPMAPPRF1
Exome VariantPRF1
1000_GenomesPRF1 
ICGC programENSG00000180644 
Cancer Gene: CensusPRF1 
Somatic Mutations in Cancer : COSMICPRF1 
CONAN: Copy Number AnalysisPRF1 
Mutations and Diseases : HGMDPRF1
Mutations and Diseases : intOGenPRF1
Genomic VariantsPRF1  PRF1 [DGVbeta]
dbVarPRF1
ClinVarPRF1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM170280    603553    605027   
MedgenPRF1
GENETestsPRF1
Disease Genetic AssociationPRF1
Huge Navigator PRF1 [HugePedia]  PRF1 [HugeCancerGEM]
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
iHOPPRF1
OncoSearchPRF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 17:01:05 CEST 2014

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