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PRF1 perforin 1 (pore forming protein) [ Homo sapiens (human) ]

Gene ID: 5551, updated on 19-Jul-2014
Official Symbol
PRF1provided by HGNC
Official Full Name
perforin 1 (pore forming protein)provided by HGNC
Primary source
HGNC:9360
Locus tag
RP11-710A11.3
See related
Ensembl:ENSG00000180644; HPRD:01362; 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; FLH2; PFN1; HPLH2
Summary
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]
See PRF1 in Epigenomics, MapViewer
Location:
10q22
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein 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 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 ...
  • 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
  • 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
  • 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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
wide pore channel activity IDA
Inferred from Direct Assay
more info
 
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
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
 
transmembrane transport IDA
Inferred from Direct Assay
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytolytic granule ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic membrane-bounded vesicle IEA
Inferred from Electronic Annotation
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
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
perforin-1
Names
perforin-1
cytolysin
lymphocyte pore forming protein
lymphocyte 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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001076585.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. 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, ENST00000441259
    Conserved Domains (2) summary
    cd04032
    Location:388514
    Blast Score: 538
    C2_Perforin; C2 domain of Perforin
    smart00457
    Location:167369
    Blast Score: 452
    MACPF; membrane-attack complex / perforin
  2. NM_005041.4NP_005032.2  perforin-1 precursor

    See proteins identical to NP_005032.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript.
    Source sequence(s)
    BC047695, BQ654088, DA816891, X13224
    Consensus CDS
    CCDS7305.1
    UniProtKB/Swiss-Prot
    P14222
    Related
    ENSP00000362305, OTTHUMP00000019759, ENST00000373209, OTTHUMT00000048517
    Conserved Domains (2) summary
    cd04032
    Location:388514
    Blast Score: 538
    C2_Perforin; C2 domain of Perforin
    smart00457
    Location:167369
    Blast Score: 452
    MACPF; membrane-attack complex / perforin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

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

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    66350612..66356064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

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