Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PRF1 perforin 1 [ Homo sapiens (human) ]

    Gene ID: 5551, updated on 5-Nov-2017
    Official Symbol
    PRF1provided by HGNC
    Official Full Name
    perforin 1provided by HGNC
    Primary source
    HGNC:HGNC:9360
    See related
    Ensembl:ENSG00000180644 MIM:170280; Vega:OTTHUMG00000018412
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P1; PFP; HPLH2
    Summary
    This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
    Orthologs
    Location:
    10q22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (70597348..70602775, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72357104..72362531, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene nodal growth differentiation factor Neighboring gene phosphatase domain containing, paladin 1 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 14 Neighboring gene thymus, brain and testes associated

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Aplastic anemia
    MedGen: C0002874 OMIM: 609135 GeneReviews: Not available
    Compare labs
    Hemophagocytic lymphohistiocytosis, familial, 2 Compare labs
    Malignant lymphoma, non-Hodgkin
    MedGen: C0024305 OMIM: 605027 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common body mass index-associated variants confer risk of extreme obesity.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Stimulation of CD8+ T cells with HIV-1 Nef peptides upregulates perforin and TNF-alpha expression PubMed
    Pr55(Gag) gag Stimulation of CD8+ T cells with HIV-1 Gag peptides upregulates perforin and TNF-alpha expression PubMed
    Tat tat Upregulation of intracellular perforin accumulation by IL-7 in CD8 T-cells is inhibited by HIV-1 Tat PubMed

    Go to the HIV-1, Human Interaction Database

    • Allograft Rejection, organism-specific biosystem (from WikiPathways)
      Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
    • Allograft rejection, organism-specific biosystem (from KEGG)
      Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Allograft rejection, conserved biosystem (from KEGG)
      Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • Downstream signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      Downstream signaling in naive CD8+ T cells, organism-specific biosystem
      Downstream signaling in naive CD8+ T cells
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
      Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Graft-versus-host disease, conserved biosystem (from KEGG)
      Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • IL12 signaling mediated by STAT4, organism-specific biosystem (from Pathway Interaction Database)
      IL12 signaling mediated by STAT4, organism-specific biosystem
      IL12 signaling mediated by STAT4
    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • Nanomaterial induced apoptosis, organism-specific biosystem (from WikiPathways)
      Nanomaterial induced apoptosis, organism-specific biosystemApotosis caused by nanomaterials, such as single-walled carbon nanohorns, titanium oxide, and polystyrene nanoparticles, may be induced through lysosomal impairment. For example, PAMAMs have been fou...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD8+ T cells, organism-specific biosystem
      TCR signaling in naive CD8+ T cells
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC65093

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    wide pore channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    cytolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    defense response to tumor cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    defense response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    immune response to tumor cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    immunological synapse formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytolytic granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytolytic granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endosome lumen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    perforin-1
    Names
    cytolysin
    lymphocyte pore-forming protein
    perforin 1 (pore forming protein)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009615.1 RefSeqGene

      Range
      5001..10428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_94

    mRNA and Protein(s)

    1. NM_001083116.2NP_001076585.1  perforin-1 precursor

      See identical proteins and their annotated locations for NP_001076585.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC047695, BQ654088, DA941244, HY075867, X13224
      Consensus CDS
      CCDS7305.1
      UniProtKB/Swiss-Prot
      P14222
      Related
      ENSP00000398568.1, ENST00000441259.1
      Conserved Domains (2) summary
      cd04032
      Location:388514
      C2_Perforin; C2 domain of Perforin
      smart00457
      Location:167369
      MACPF; membrane-attack complex / perforin
    2. NM_005041.5NP_005032.2  perforin-1 precursor

      See identical proteins and their annotated locations for NP_005032.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC047695, BQ654088, DA816891, HY075867, X13224
      Consensus CDS
      CCDS7305.1
      UniProtKB/Swiss-Prot
      P14222
      Related
      ENSP00000362305.1, OTTHUMP00000019759, ENST00000373209.2
      Conserved Domains (2) summary
      cd04032
      Location:388514
      C2_Perforin; C2 domain of Perforin
      smart00457
      Location:167369
      MACPF; membrane-attack complex / perforin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      70597348..70602775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      72639251..72644703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center