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Prf1 perforin 1 (pore forming protein) [ Mus musculus (house mouse) ]

Gene ID: 18646, updated on 18-Sep-2024

Summary

Official Symbol
Prf1provided by MGI
Official Full Name
perforin 1 (pore forming protein)provided by MGI
Primary source
MGI:MGI:97551
See related
Ensembl:ENSMUSG00000037202 AllianceGenome:MGI:97551
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pfn; Pfp; Prf-1
Summary
Enables calcium ion binding activity and wide pore channel activity. Involved in several processes, including defense response to tumor cell; immune response to tumor cell; and protein homooligomerization. Acts upstream of or within T cell mediated cytotoxicity. Located in cytolytic granule and cytoplasmic vesicle. Is integral component of membrane. Is expressed in ductus deferens; epididymis; skin; and spleen. Used to study familial hemophagocytic lymphohistiocytosis 2; multiple sclerosis; and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including Crohn's disease; familial hemophagocytic lymphohistiocytosis 2; human immunodeficiency virus infectious disease; multiple sclerosis; and non-Langerhans-cell histiocytosis. Orthologous to human PRF1 (perforin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in spleen adult (RPKM 7.1), mammary gland adult (RPKM 3.1) and 7 other tissues See more
Orthologs
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Genomic context

See Prf1 in Genome Data Viewer
Location:
10 B4; 10 32.18 cM
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (61133530..61140463)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (61297751..61304684)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene thymus, brain and testes associated Neighboring gene STARR-positive B cell enhancer mm9_chr10:60662268-60662569 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 14 Neighboring gene predicted gene, 29861 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:60697146-60697393 Neighboring gene ribosomal protein L27A, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_26836 Neighboring gene phosphatase domain containing, paladin 1 Neighboring gene STARR-seq mESC enhancer starr_26839

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables pore-forming activity IEA
Inferred from Electronic Annotation
more info
 
enables wide pore channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables wide pore channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables wide pore channel activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in T cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in T cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in circadian rhythm ISO
Inferred from Sequence Orthology
more info
 
involved_in defense response to tumor cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in defense response to virus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in granzyme-mediated programmed cell death signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in immune response to tumor cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immunological synapse formation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in immunological synapse formation IEA
Inferred from Electronic Annotation
more info
 
involved_in immunological synapse formation ISO
Inferred from Sequence Orthology
more info
 
involved_in killing of cells of another organism IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of killing of cells of another organism IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of killing of cells of another organism ISO
Inferred from Sequence Orthology
more info
 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein import IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein import ISO
Inferred from Sequence Orthology
more info
 
involved_in protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytolytic granule IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytolytic granule ISO
Inferred from Sequence Orthology
more info
 
located_in cytolytic granule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
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 extracellular space ISO
Inferred from Sequence Orthology
more info
 
is_active_in immunological synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
perforin-1
Names
P1
cytolysin
lymphocyte pore-forming protein
pore forming protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_011073.3NP_035203.3  perforin-1 precursor

    Status: VALIDATED

    Source sequence(s)
    BC132300
    Consensus CDS
    CCDS23875.1
    UniProtKB/Swiss-Prot
    P10820
    UniProtKB/TrEMBL
    A2RSY7
    Related
    ENSMUSP00000151354.2, ENSMUST00000219375.2
    Conserved Domains (2) summary
    cd04032
    Location:387513
    C2_Perforin; C2 domain of Perforin
    smart00457
    Location:166368
    MACPF; membrane-attack complex / perforin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    61133530..61140463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006513370.4XP_006513433.1  perforin-1 isoform X1

    UniProtKB/Swiss-Prot
    P10820
    UniProtKB/TrEMBL
    A2RSY7
    Conserved Domains (2) summary
    cd04032
    Location:387513
    C2_Perforin; C2 domain of Perforin
    smart00457
    Location:166368
    MACPF; membrane-attack complex / perforin