Pfn1 Gene Summary [Mouse]

Enables small GTPase binding activity. Involved in modification of postsynaptic actin cytoskeleton; modulation of chemical synaptic transmission; and synapse maturation. Acts upstream of or within neural tube closure and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is active in glutamatergic synapse. Is expressed in several structures, including compacted morula; gut; hemolymphoid system; inner cell mass; and nervous system. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 18. Orthologous to human PFN1 (profilin 1). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Pfn1
Official Name
profilin 1 [Source:MGI Symbol;Acc:MGI:97549]
Ensembl ID
ENSMUSG00000018293
Bio databases IDs NCBI: 18643 Ensembl: ENSMUSG00000018293
Aliases profilin 1
Synonyms ALS18, Pfn, PROF1, PROFILIN, profilin 1
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 Pfn1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • PROF
  • adenyl-nucleotide exchange factor
  • actin monomer binding
  • phosphatidylinositol-4,5-bisphosphate binding
  • actin binding
  • enzyme binding
  • Profilin
  • phosphotyrosine binding
  • protein binding
  • receptor binding
  • polyproline-binding domain

Pathways

Biological processes and signaling networks where the Pfn1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • liver cancer
  • hepatocellular carcinoma
  • pancreatic cancer
  • amyotrophic lateral sclerosis type 18
  • breast cancer
  • COVID-19
  • cardiac hypertrophy
  • Alzheimer disease
  • Huntington disease
regulated by
regulates
role in cell
  • expression in
  • oxygen consumption in
  • apoptosis
  • formation
  • phagocytosis by
  • migration
  • loss
  • organization
  • density
  • chemotaxis

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
  • detergent resistant lipid raft fraction
  • glutaminergic synapse
  • perimembrane region
  • presynaptic regions
  • Extracellular Space
  • perinuclear region
  • postsynaptic region
  • cell cortex
  • Nucleus
  • Plasma Membrane
  • Mitochondria
  • actin bundles
  • cytosol
  • gems
  • synapse
  • excitatory synapses
  • exosomes
  • lamellipodia
  • cytoplasmic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Pfn1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of ATPase activity
  • synapse maturation
  • positive regulation of ruffle assembly
  • regulation of transcription from RNA polymerase II promoter
  • regulation of actin filament polymerization
  • negative regulation of stress fiber assembly
  • neural tube closure
  • negative regulation of actin filament polymerization
  • positive regulation of actin filament polymerization
  • regulation of synaptic transmission
  • negative regulation of actin filament bundle assembly
  • positive regulation of actin filament bundle assembly
  • positive regulation of epithelial cell migration
  • protein stabilization
  • actin cytoskeleton organization

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • extracellular vesicular exosome
  • cytoskeleton
  • focal adhesion
  • cytoplasm
  • cell cortex
  • membrane
  • blood microparticle
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • phosphotyrosine binding
  • phosphatidylinositol-4,5-bisphosphate binding
  • proline-rich region binding
  • RNA binding
  • protein binding
  • actin binding
  • cadherin binding
  • small GTPase binding
  • adenyl-nucleotide exchange factor activity
  • actin monomer binding

Gene-Specific Assays for Results You Can Trust

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