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PRF1 Gene

protein-coding   GIFtS: 67
GCID: GC10M072357

Perforin 1 (Pore Forming Protein)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Perforin 1 (Pore Forming Protein)1 2     Perforin 1 (Preforming Protein)1
Lymphocyte Pore-Forming Protein2 3     PFN12
P12 3     cytolysin2
PFP2 3     Lymphocyte Pore Forming Protein2
FLH22 5     perforin-12
HPLH22 5     Cytolysin3
Perforin1     

External Ids:    HGNC: 93601   Entrez Gene: 55512   Ensembl: ENSG000001806447   OMIM: 1702805   UniProtKB: P142223   

Export aliases for PRF1 gene to outside databases

Previous GC identifers: GC10M071119 GC10M071443 GC10M072249 GC10M071701 GC10M072027 GC10M066350


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRF1 Gene:
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like
C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target
cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key
effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial
hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early
childhood. Alternative splicing results in multiple transcript variants encoding the same protein. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PRF1 Gene:
PRF1 (perforin 1 (pore forming protein)) is a protein-coding gene. Diseases associated with PRF1 include non-hodgkin lymphoma, and systemic onset juvenile idiopathic arthritis. GO annotations related to this gene include wide pore channel activity and calcium ion binding.

UniProtKB/Swiss-Prot: PERF_HUMAN, P14222
Function: Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or
neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune
system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target
cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target
cells by facilitating the uptake of cytotoxic granzymes

Gene Wiki entry for PRF1 (Perforin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRF1 gene promoter:
         AREB6   CREB   c-Rel   AML1a   deltaCREB   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRF1 promoter sequence
   Search Chromatin IP Primers for PRF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22

PRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRF1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M072357:  view genomic region     (about GC identifiers)

Start:
72,357,104 bp from pter      End:
72,362,531 bp from pter
Size:
5,428 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PERF_HUMAN, P14222 (See protein sequence)
Recommended Name: Perforin-1 precursor  
Size: 555 amino acids; 61377 Da
Subunit: Monomer, as sobluble protein. Homooligomer. Oligomerization is required for pore formation
Secondary accessions: B2R6X4 Q59F57 Q86WX7

Explore the universe of human proteins at neXtProt for PRF1: NX_P14222

Explore proteomics data for PRF1 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn205, Asn549

  • See PRF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001076585.1  NP_005032.2  

    ENSEMBL proteins: 
     ENSP00000362305   ENSP00000398568  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR020864 MACPF
     IPR020863 MACPF_CS
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry P14222

    ProtoNet protein and cluster: P14222

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: PERF_HUMAN, P14222
    Domain: The C2 domain mediates calcium-dependent binding to lipid membranes. A subsequent conformation change
    leads to membrane insertion of beta-hairpin structures and pore formation. The pore is formed by transmembrane
    beta-strands
    Similarity: Belongs to the complement C6/C7/C8/C9 family
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 MACPF domain


    PRF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PERF_HUMAN, P14222
    Function: Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or
    neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune
    system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target
    cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target
    cells by facilitating the uptake of cytotoxic granzymes
    Induction: Repressed by contact with target cells

         Genatlas biochemistry entry for PRF1:
    perforin70-75kDa,pore forming protein 1 (cytoplasmic granules of natural killer and cytotoxic T cell),crucial
    effector of T and NK cell-mediated cytolysis,highly homologous to complement component C9

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI11911826
    GO:0022829wide pore channel activity IDA--
         
    PRF1 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Prf1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  normal  reproductive system  tumorigenesis 

    PRF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PRF1: Prf1tm1Sdz Prf1tm1Clrk Prf1tm1Tsc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRF1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRF1

    miRNA
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    miRTarBase miRNAs that target PRF1:
    hsa-mir-99b-3p (MIRT038531), hsa-mir-30c-5p (MIRT047929), hsa-mir-182-5p (MIRT007199), hsa-mir-193b-3p (MIRT041589), hsa-mir-766-3p (MIRT039051), hsa-mir-941 (MIRT036585), hsa-let-7b-5p (MIRT051906), hsa-mir-92a-3p (MIRT049148), hsa-mir-92b-3p (MIRT040578), hsa-mir-222-3p (MIRT046707)

    Block miRNA regulation of human, mouse, rat PRF1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidPRF1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sino Biological Human cDNA Clone for PRF1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRF1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PERF_HUMAN, P14222: Cytoplasmic granule lumen. Secreted. Cell membrane; Multi-pass membrane protein. Endosome
    lumen. Note=Stored in cytoplasmic granules of cytolytic T-lymphocytes and secreted into the cleft between
    T-lymphocyte and target cell. Inserts into the cell membrane of target cells and forms pores. Membrane insertion
    and pore formation requires a major conformation change. May be taken up via endocytosis involving
    clathrin-coated vesicles and accumulate in a first time in large early endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular5
    plasma membrane5
    lysosome4
    vacuole4
    cytoskeleton2
    cytosol2
    golgi apparatus2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IDA--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0031904endosome lumen IEA--

    PRF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PRF1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Allograft rejection0.86
    Autoimmune thyroid disease0.61
    Allograft Rejection0.86
    Viral myocarditis0.40
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.65
    2Granzyme Pathway
    Granzyme Pathway
    Granzyme-B Pathway0.00
    3TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    4Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    5Apoptosis (WikiPathways)
    Apoptosis0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PRF1 (see all 6)
        Caspase Cascade
    Granzyme-B Pathway
    Granzyme-A Pathway
    RhoGDI Pathway
    Granzyme Pathway

    1 GeneGo (Thomson Reuters) Pathway for PRF1
        Immune response IL-12 signaling pathway

    Selected BioSystems Pathways for PRF1 (see all 7)
        Apoptosis
    Allograft Rejection
    Caspase cascade in apoptosis
    IL12 signaling mediated by STAT4
    TCR signaling in naive CD8+ T cells



    Selected Kegg Pathways  (Kegg details for PRF1) (see all 6):
        Natural killer cell mediated cytotoxicity
    Type I diabetes mellitus
    Autoimmune thyroid disease
    Allograft rejection
    Graft-versus-host disease


    PRF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PRF1: 
              Circadian Rhythms in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PRF1

    5 Interacting proteins for PRF1 (P142221, 2, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX24Q9GZR72, 3MINT-65409 I2D: score=4 
    GZMBP101441, 3EBI-724466,EBI-2505785 I2D: score=3 
    CALRP277973I2D: score=3 
    RAG2P558953I2D: score=1 
    SRGNP101243I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002357defense response to tumor cell ISS--
    GO:0002418immune response to tumor cell ISS--
    GO:0006915apoptotic process TAS10779745
    GO:0006968cellular defense response TAS10779745
    GO:0019835cytolysis ISS--

    PRF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRF1 (PERF)

    1 HMDB Compound for PRF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for PRF1 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lactocin s 82.3 4 8775969 (1), 17096664 (1), 8775977 (1)
    listeriolysin 81.1 6 11166239 (1), 16798043 (1), 9080692 (1), 11254648 (1) (see all 5)
    equinatoxin ii 74.9 4 18418218 (1), 12944411 (1), 7679444 (1), 7599260 (1)
    leukocidin 66.2 4 1449828 (1), 15170101 (1), 10556515 (1)
    hemolysins 62 2 16458433 (1), 11107788 (1)
    cdcs 61.3 1 19935887 (1)
    serine 29.3 7 7927512 (2), 2215515 (1), 17715820 (1), 8775969 (1) (see all 7)
    nisin 29.1 3 17096664 (1), 8775977 (1)
    bacteriocins 27.8 1 12969372 (1)
    melittin 25.6 1 9048567 (1)



    PRF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRF1 gene (2 alternative transcripts): 
    NM_001083116.1  NM_005041.4  

    Unigene Cluster for PRF1:

    Perforin 1 (pore forming protein)
    Hs.2200  [show with all ESTs]
    Unigene Representative Sequence: NM_001083116
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373209 ENST00000441259(uc009xqg.3)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209604.1 AK312754.1 BC047695.1 BC063043.1 FJ555237.1 L40557.1 M28393.1 X13224.1 

    3 DOTS entries:

    DT.97775977  DT.40298803  DT.121271924 

    Selected AceView cDNA sequences (see all 39):

    BQ051559 BM561484 BM920832 AI076019 BC047695 BQ051752 BM991127 M28393 
    BQ052510 NM_005041 BG744487 AL703521 BM919339 BQ054092 BQ052428 BQ052682 
    BQ654088 BQ051570 BQ883871 BC063043 BG744197 BQ644869 CB051907 BI772101 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PRF1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3
    SP1:              -                     
    SP2:                                    


    ECgene alternative splicing isoforms for PRF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRF1 expression in normal human tissues (normalized intensities)      PRF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATAGCTT
    PRF1 Expression
    About this image


    PRF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Natural Killer Cells Peripheral Blood
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Spleen (Hematopoietic System)
    PRF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2200
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PRF1: 
              Circadian Rhythms in human mouse rat
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PRF1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prf11 , 5 perforin 1 (pore forming protein)1, 5 74.73(n)1
    68.29(a)1
      10 (32.18 cM)5
    186461  NM_011073.31  NP_035203.31 
     612978365 
    chicken
    (Gallus gallus)
    Aves LOC1017503631 perforin-1-like 50.52(n)
    40.78(a)
      101750363  XM_004945690.1  XP_004945747.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    43(a)
    36(a)
    many → 1
    many → 1
    GL343220.1(2082475-2086501)
    GL343220.1(1053786-1058676)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004929731 perforin-1-like 52.51(n)
    40.22(a)
      100492973  XM_002941481.2  XP_002941527.2 
    zebrafish
    (Danio rerio)
    Actinopterygii prf1.71 perforin 1.7 48.39(n)
    41.13(a)
      100535230  XM_003200600.2  XP_003200648.1 


    ENSEMBL Gene Tree for PRF1 (if available)
    TreeFam Gene Tree for PRF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRF1 (see all 303)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289333741,2,,4
    CFamilial hemophagocytic lymphohistiocytosis 2 (FHL2)4 pathogenic172731335(-) GGAACA/C/TCCTGC 4 P L mis1 ese31EU 929
    rs289333751,2,,4
    C,FFamilial hemophagocytic lymphohistiocytosis 2 (FHL2)4 pathogenic172731614(-) GGACAA/GCGAGG 4 N S mis1 ese32Minor allele frequency- G:0.01NA EU 5873
    rs289339731,2,,4
    CFamilial hemophagocytic lymphohistiocytosis 2 (FHL2)4 pathogenic172731696(-) TCATCC/TGGGCT 4 R W mis1 ese30--------
    VAR_0107494
    Familial hemophagocytic lymphohistiocytosis 2 (FHL2)4--see VAR_0107492 G E mis40--------
    VAR_0107724
    Familial hemophagocytic lymphohistiocytosis 2 (FHL2)4--see VAR_0107722 V M mis40--------
    VAR_0107474
    Familial hemophagocytic lymphohistiocytosis 2 (FHL2)4--see VAR_0107472 C Y mis40--------
    VAR_0107444
    Familial hemophagocytic lymphohistiocytosis 2 (FHL2)4--see VAR_0107442 V G mis40--------
    VAR_0107744
    Familial hemophagocytic lymphohistiocytosis 2 (FHL2)4--see VAR_0107742 I N mis40--------
    rs289333761,2
    Cpathogenic172731065(-) TGCCAC/TGGATG 4 T M mis1 ese30--------
    rs1048941811,2
    Cpathogenic172731083(-) GTGGGA/GGGACT 4 E G mis10--------

    HapMap Linkage Disequilibrium report for PRF1 (72357104 - 72362531 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PRF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32737CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): PRF1
    Locus Specific Mutation Databases (LSDB): PRF1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRF1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 170280   
    OMIM disorders: 603553  605027  
    UniProtKB/Swiss-Prot: PERF_HUMAN, P14222
  • Familial hemophagocytic lymphohistiocytosis 2 (FHL2) [MIM:603553]: A rare disorder characterized by
    immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration
    of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever,
    hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and
    hypotonia to seizures, cranial nerve deficits and ataxia. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for PRF1 (see all 89):    About MalaCards
    non-hodgkin lymphoma    systemic onset juvenile idiopathic arthritis    pleuropneumonia    hemophagocytic lymphohistiocytosis, familial, 2
    fatal post-viral neurodegenerative disorder    borna disease    hemophagocytic lymphohistiocytosis, familial    endophthalmitis
    bacterial vaginosis    facial paralysis    cutaneous lupus erythematosus    patellofemoral pain syndrome
    hemophagocytic lymphohistiocytosis, familial, 4    coronary artery aneurysm    subacute cutaneous lupus erythematosus    bacteriuria
    cardiac rupture    hemophagocytic lymphohistiocytosis    aplastic anemia    lymphocytic choriomeningitis

    7 diseases from the University of Copenhagen DISEASES database for PRF1:
    Hemophagocytic lymphohistiocytosis     Lymphoma     Myocarditis     Skin disease
    Human immunodeficiency virus infectious disease     Hypersensitivity reaction type II disease     Melanoma

    PRF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for PRF1 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial hemophagocytic lymphohistiocytosis 90 8 18496551 (1), 18710388 (1), 18198357 (1), 15632205 (1) (see all 8)
    lymphohistiocytosis hemophagocytic 82.5 9 16860143 (2), 18311812 (1), 16278825 (1), 12229880 (1) (see all 8)
    hemolysis 54.1 1 8557350 (1)
    bacterial vaginosis 43 3 12148539 (1), 9815222 (1), 12388968 (1)
    mastocytoma 26.5 1 7536799 (1)
    cell damage 20.7 1 9331730 (1)
    lymphoma 14.5 3 17477373 (1), 18198357 (1), 15459303 (1)
    endophthalmitis 5.27 2 7834601 (1), 9423880 (1)
    carcinoma 5.04 1 16400631 (1)
    necrosis 2.87 6 7927512 (1), 20133891 (1), 19907657 (1), 15893691 (1) (see all 5)

    GeneTests: PRF1
    GeneReviews: PRF1
    Genetic Association Database (GAD): PRF1
    Human Genome Epidemiology (HuGE) Navigator: PRF1 (23 documents)

    Export disorders for PRF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PRF1 gene, integrated from 10 sources (see all 308):
    (articles sorted by number of sources associating them with PRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal assignment of a human perforin (PFP) gene. (PubMed id 2592021)1, 2, 3 Shinkai Y.... Okumura K. (Immunogenetics 1989)
    2. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. (PubMed id 20092789)1, 4, 9 Lu G....Yang S. (Chin. Med. J. 2009)
    3. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. (PubMed id 16860143)1, 4, 9 Lee S.M....Filipovich A.H. (J. Pediatr. 2006)
    4. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. (PubMed id 20019066)1, 4, 9 Vastert S.J....Kuis W. (Rheumatology (Oxford) 2010)
    5. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. (PubMed id 18710388)1, 4, 9 Horne A....Henter J.I. (Br. J. Haematol. 2008)
    6. Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma. (PubMed id 17477373)1, 4, 9 Cannella S....AricA^ M. (Cancer 2007)
    7. Human perforin (PRF1) maps to 10q22, a region that is syntenic with mouse chromosome 10. (PubMed id 1505959)1, 3, 9 Fink T.M....Lichter P. (Genomics 1992)
    8. Variations of the perforin gene in patients with type 1 diabetes. (PubMed id 18198357)1, 4, 9 Orilieri E....Dianzani U. (Diabetes 2008)
    9. Variations of the perforin gene in patients with multiple sclerosis. (PubMed id 18496551)1, 4, 9 Cappellano G....Dianzani U. (Genes Immun. 2008)
    10. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. (PubMed id 17873118)1, 4, 9 Trizzino A....AricA^ M. (J. Med. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5551 HGNC: 9360 AceView: PRF1 Ensembl:ENSG00000180644 euGenes: HUgn5551
    ECgene: PRF1 Kegg: 5551 H-InvDB: PRF1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PRF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRF1 Genetics and Cytogenetics in Oncology and Haematology
    PRF1basehttp://bioinf.uta.fi/PRF1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PRF1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Perforin
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/126

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRF1 gene:
    Search GeneIP for patents involving PRF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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