Prf1 Gene Summary [Mouse]

Enables calcium ion binding activity and wide pore channel activity. Involved in several processes, including defense response to tumor cell; granzyme-mediated programmed cell death signaling pathway; and protein transport. Acts upstream of or within ceramide biosynthetic process; plasma membrane repair; and protein maturation. Located in cytolytic granule and cytoplasmic vesicle. Is active in immunological synapse. 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 2025]

Details

Type
Protein Coding
Official Symbol
Prf1
Official Name
perforin 1 (pore forming protein) [Source:MGI Symbol;Acc:MGI:97551]
Ensembl ID
ENSMUSG00000037202
Bio databases IDs NCBI: 18646 Ensembl: ENSMUSG00000037202
Aliases perforin 1 (pore forming protein)
Synonyms CYTA, HPLH2, P1, Perforin, perforin 1, perforin 1 (pore forming protein), Perforin A, Pfn, PFP, RATCYTA
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Prf1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • channel/pore class transporter
  • membrane-attack complex / perforin
  • MAC/Perforin domain
  • calcium ion binding
  • protein binding
  • Protein kinase C conserved region 2 (CalB)
  • identical protein binding
  • transporter
  • C2 domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • epithelial neoplasia
  • cancer
  • epithelial cancer
  • skin cancer
  • psoriasis
  • graft-vs-host disease
  • splenomegaly
  • infection
  • rheumatoid arthritis
  • metastasis
regulated by
  • reactive oxygen species
  • IL2
  • IL1B
  • Immunoglobulin
  • tetradecanoylphorbol acetate
  • STAT3
  • heparin
  • PI3K (complex)
  • TGFB1
  • IL6
regulates
role in cell
  • necrosis
  • cell death
  • apoptosis
  • transmembrane potential
  • killing
  • killing by
  • production in
  • expression in
  • quantity
  • signaling in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cell surface
  • Extracellular Space
  • organelle lumens
  • cellular membrane
  • vacuole
  • Plasma Membrane
  • endosomes
  • vesicles
  • lysosome
  • immunological synapses
  • granules
  • cytosol
  • cytotoxic granule
  • dense-core vesicles
  • cytoplasmic vesicles
  • exosomes
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Prf1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein transmembrane transport
  • protein homooligomerization
  • protein secretion
  • immunological synapse formation
  • cellular defense response
  • defense response to tumor cell
  • apoptotic process
  • immune response to tumor cell
  • T cell mediated cytotoxicity
  • killing of cells of other organism
  • defense response to virus
  • positive regulation of killing of cells of other organism
  • protein import

Cellular Component

Where in the cell the gene product is active
  • cytolytic granule
  • endosome lumen
  • membrane
  • cytosol
  • extracellular region
  • plasma membrane
  • immunological synapse

Molecular Function

What the gene product does at the molecular level
  • wide pore channel activity
  • identical protein binding
  • protein binding
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.