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PRF1 (perforin 1 (pore forming protein))

Identity

Other namesFLH2
HPLH2
MGC65093
P1
PFN1
PFP
HGNC (Hugo) PRF1
Location 10q22.1
Location_base_pair Starts at 72027110 and ends at 72032537 bp from pter ( according to hg18-March_2006)
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
Entrez_Gene (NCBI)PRF1  5551  perforin 1 (pore forming protein)
Cards
GeneCards (Weizmann)PRF1
Ensembl (Hinxton)ENSG00000180644 [Gene_View]  PRF1 [Vega]
AceView (NCBI)PRF1
Genatlas (Paris)PRF1
euGene (Indiana)5551
SOURCE (Stanford)NM_001083116 NM_005041
Gene Expression (Array Express) ENSG00000180644
Genomic and cartography
GoldenPath (UCSC)PRF1  -  10q22.1   chr10:72027110-72032537 -  10q22.1   [Description]    (hg18-March_2006)
EnsemblPRF1 - 10q22.1 [CytoView]
Mapping of homologs : NCBIPRF1 [Mapview]
OMIM170280   603553   605027   
Gene and transcription
Gene : Genbank (Entrez)AB209604 AK312754 BC047695 BC063043 BQ051559
Reference sequence (RefSeq transcript) :SRSNM_001083116 NM_005041
Reference transcript : EntrezNM_001083116 NM_005041
RefSeq genomic : SRSAC_000053 AC_000142 NC_000010 NG_009615 NT_030059 NW_001837986 NW_924796
RefSeq genomic : EntrezAC_000053 AC_000142 NC_000010 NG_009615 NT_030059 NW_001837986 NW_924796
Consensus coding sequences : CCDS NCBIPRF1
Cluster EST : UnigeneHs.2200 [ SRS ] Hs.2200 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13029
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP14222 (SRS) P14222 (Expasy) P14222 (Uniprot)
With graphics : InterProP14222
Splice isoforms : VarSplice FASTAP14222(VarSplice FASTA)
Domaine pattern : Prosite (SRS)C2 (PS50004)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    MACPF_1 (PS00279)    MACPF_2 (PS51412)   
Domain pattern : Prosite (Expaxy)C2 (PS50004)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    MACPF_1 (PS00279)    MACPF_2 (PS51412)   
Domains : Interpro (SRS)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    MACPF    MACPF_CS    MACPF_met   
Domains : Interpro (EBI)C2_Ca-dep    C2_Ca/lipid-bd_dom_CaLB    C2_membr_targeting    MACPF    MACPF_CS    MACPF_met   
Related proteins : CluSTrP14222
Domain families : Pfam SRSC2 (PF00168)    MACPF (PF01823)   
Domain families : Pfam SangerC2 (PF00168)    MACPF (PF01823)   
Domain families : Pfam NCBIpfam00168    pfam01823   
Domain families : Smart EMBLC2 (SM00239)  MACPF (SM00457)  
Blocks (Seattle)P14222
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01362
Protein Interaction databases
DIP (DOE-UCLA)P14222
IntAct (EBI)P14222
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIPRF1
SNP : GeneSNP UtahPRF1
SNP : HGBasePRF1
Genetic variants : HAPMAPPRF1
Cancer Gene: CensusPRF1 
Somatic Mutations in Cancer : COSMICPRF1 
Mutations and Diseases : HGMDPRF1
Hereditary diseases : OMIM170280    603553    605027   
Hereditary diseases : GENETests170280    603553    605027   
Diseases : Genetic AssociationPRF1
General knowledge
Homologs : HomoloGenePRF1
Homology/Alignments : Family Browser UCSCPRF1
Phylogenetic Trees/Animal Genes : TreeFamPRF1
Chemical/Protein Interactions : CTD5551
Keywords Ontology : AmiGOcalcium ion binding  extracellular region  plasma membrane  apoptosis  cellular defense response  circadian rhythm  integral to membrane  cytoplasmic membrane-bounded vesicle  cytolysis  response to ethanol  
Keywords Ontology : EGO-EBIcalcium ion binding  extracellular region  plasma membrane  apoptosis  cellular defense response  circadian rhythm  integral to membrane  cytoplasmic membrane-bounded vesicle  cytolysis  response to ethanol  
Pathways : BIOCARTACaspase Cascade in Apoptosis [Genes]    CTL mediated immune response against target cells [Genes]    D4-GDI Signaling Pathway [Genes]    Granzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGGNatural killer cell mediated cytotoxicityType I diabetes mellitus
Other databases
Probes
Probes : ImagenesPRF1 Related clones (RZPD - Berlin)
Literature
PubMed95 Pubmed reference(s) in Entrez
PubGenePRF1
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
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:36:43 CET 2010
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