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

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: human all
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Genomic context

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase-7 activates ASM to repair gasdermin and perforin pores.
Title: Caspase-7 activates ASM to repair gasdermin and perforin pores.
Impaired B Cell Function in Mice Lacking Perforin-2.
Title: Impaired B Cell Function in Mice Lacking Perforin-2.
Perforin Acts as an Immune Regulator to Prevent the Progression of NAFLD.
Title: Perforin Acts as an Immune Regulator to Prevent the Progression of NAFLD.
Loss of NKG2D in murine NK cells leads to increased perforin production upon long-term stimulation with IL-2.
Title: Loss of NKG2D in murine NK cells leads to increased perforin production upon long-term stimulation with IL-2.
CD8 T cell-derived perforin is detrimental to spinal cord injury recovery in the mouse model. Mechanistically, this effect occurs because perforin increases blood-spinal cord barrier permeability, causing inflammatory cells and related cytokines to infiltrate and disrupt the nervous system.
Title: CD8 T cell-derived perforin aggravates secondary spinal cord injury through destroying the blood-spinal cord barrier.
Mutant perforin displayed markedly enhanced thermal stability and lytic function, despite its trafficking from the endoplasmic reticulum remaining unchanged.
Title: Perforin proteostasis is regulated through its C2 domain: supra-physiological cell death mediated by T431D-perforin.
Pairing of purified normal CD4 T cells with either pfp or FasL defective CD8 T cell subsets.
Title: Both perforin and FasL are required for optimal CD8 T cell control of autoreactive B cells and autoantibody production in parent-into-F1 lupus mice.
Prf1(-/-) mice with impaired cell cytotoxicity exhibit higher senescent-cell tissue burden and chronic inflammation. They suffer from multiple age-related disorders and lower survival.
Title: Impaired immune surveillance accelerates accumulation of senescent cells and aging.
Study in mice models shows that perforin from antigen-specific cytotoxic T lymphocytes is required for Nlrp3 inflammasome activation in antigen-presenting cells. Furthermore, such activation of NLRP3 inflammasome contributes to the induction of antigen-specific antitumour immunity and pathogenesis of graft-versus-host diseases.
Title: Antigen-specific CD8(+) T cell feedback activates NLRP3 inflammasome in antigen-presenting cells through perforin.
levetiracetam can still protect neurons with perforin knockout mice.
Title: Levetiracetam Prevents Perforin Mediated Neuronal Injury Induced by Acute Cerebral Ischemia Reperfusion.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Variation

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Alleles

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

Targeted (6) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC108498P1 (e-PCR)
- UniSTS:270140

PMC316374P4 (e-PCR)
- UniSTS:272965

PMC109669P2 (e-PCR)
- UniSTS:270177

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	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in leukocyte mediated cytotoxicity	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 cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	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
located_in lysosome	IEA Inferred from Electronic Annotation more info
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	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

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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)

NM_011073.3 → NP_035203.3 perforin-1 precursor

See identical proteins and their annotated locations for NP_035203.3

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:387 → 513

C2_Perforin; C2 domain of Perforin

smart00457
Location:166 → 368

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

61133530..61140463

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_006513433.1

UniProtKB/Swiss-Prot

P10820

UniProtKB/TrEMBL

A2RSY7

Conserved Domains (2) summary

cd04032
Location:387 → 513

C2_Perforin; C2 domain of Perforin

smart00457
Location:166 → 368

MACPF; membrane-attack complex / perforin