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    PRF1 perforin 1 [ Homo sapiens (human) ]

    Gene ID: 5551, updated on 19-Jul-2021

    Summary

    Official Symbol
    PRF1provided by HGNC
    Official Full Name
    perforin 1provided by HGNC
    Primary source
    HGNC:HGNC:9360
    See related
    Ensembl:ENSG00000180644 MIM:170280
    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]
    Expression
    Biased expression in spleen (RPKM 24.2), bone marrow (RPKM 10.6) and 12 other tissues See more
    Orthologs
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    Genomic context

    See PRF1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (70597348..70602741, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72357104..72362497, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phosphatase domain containing paladin 1 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14353 Neighboring gene Sharpr-MPRA regulatory region 11165 Neighboring gene CRISPRi-validated cis-regulatory element chr10.2252

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Aplastic anemia
    MedGen: C0002874 OMIM: 609135 GeneReviews: Not available
    Compare labs
    Common body mass index-associated variants confer risk of extreme obesity.
    GeneReviews: Not available
    Familial hemophagocytic lymphohistiocytosis 2
    MedGen: C1863727 OMIM: 603553 GeneReviews: Not available
    Compare labs
    Lymphoma, Non-Hodgkin, Familial
    MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC65093

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    perforin-1
    Names
    cytolysin
    lymphocyte pore-forming protein
    perforin 1 (pore forming protein)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001083116.3NP_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, X13224
      Consensus CDS
      CCDS7305.1
      UniProtKB/Swiss-Prot
      P14222
      Related
      ENSP00000398568.1, ENST00000441259.2
      Conserved Domains (2) summary
      cd04032
      Location:388514
      C2_Perforin; C2 domain of Perforin
      smart00457
      Location:167369
      MACPF; membrane-attack complex / perforin
    2. NM_005041.6NP_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, X13224
      Consensus CDS
      CCDS7305.1
      UniProtKB/Swiss-Prot
      P14222
      Related
      ENSP00000362305.1, 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      70597348..70602741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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