Pfn1 profilin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pfn1provided by MGI
Official Full Name: profilin 1provided by MGI
Primary source: MGI:MGI:97549
See related: Ensembl:ENSMUSG00000018293 AllianceGenome:MGI:97549
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
Summary: 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, Dec 2024]
Expression: Broad expression in duodenum adult (RPKM 1996.2), small intestine adult (RPKM 1338.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 43.21 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (70542670..70547625, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (70651844..70656799, complement)

Chromosome 11 - NC_000077.7 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?

Prolonged depletion of profilin 1 or F-actin causes an adaptive response in microtubules.
Title: Prolonged depletion of profilin 1 or F-actin causes an adaptive response in microtubules.
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.
Title: Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.
Vascular endothelial profilin-1 drives a protumorigenic tumor microenvironment and tumor progression in renal cancer.
Title: Vascular endothelial profilin-1 drives a protumorigenic tumor microenvironment and tumor progression in renal cancer.
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Title: Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Profilin-1 negatively controls osteoclast migration by suppressing the protrusive structures based on branched actin filaments.
Title: Profilin-1 negatively controls osteoclast migration by suppressing the protrusive structures based on branched actin filaments.
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Title: The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Profilin1-Dependent F-Actin Assembly Controls Division of Apical Radial Glia and Neocortex Development.
Title: Profilin1-Dependent F-Actin Assembly Controls Division of Apical Radial Glia and Neocortex Development.
Specificity and Redundancy of Profilin 1 and 2 Function in Brain Development and Neuronal Structure.
Title: Specificity and Redundancy of Profilin 1 and 2 Function in Brain Development and Neuronal Structure.
The actin regulator profilin 1 is functionally associated with the mammalian centrosome.
Title: The actin regulator profilin 1 is functionally associated with the mammalian centrosome.
Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.
Title: Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

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

Endonuclease-mediated (3)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin monomer binding	IEA Inferred from Electronic Annotation more info
enables actin monomer binding	ISO Inferred from Sequence Orthology more info
enables adenyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables adenyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphotyrosine residue binding	IEA Inferred from Electronic Annotation more info
enables phosphotyrosine residue binding	ISO Inferred from Sequence Orthology more info
enables proline-rich region binding	IEA Inferred from Electronic Annotation more info
enables proline-rich region binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in modification of postsynaptic actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
involved_in modification of postsynaptic actin cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of actin filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural tube closure	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of actin filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ruffle assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ruffle assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of viral transcription	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of actin polymerization or depolymerization	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sequestering of actin monomers	TAS Traceable Author Statement more info	PubMed
involved_in synapse maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in synapse maturation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in parallel fiber to Purkinje cell synapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: profilin-1

Names: actin binding protein; profilin I

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_011072.4 → NP_035202.1 profilin-1

See identical proteins and their annotated locations for NP_035202.1

Status: VALIDATED

Source sequence(s)

AK150780, AK152491, AV448567, BX527156

Consensus CDS

CCDS24960.1

UniProtKB/Swiss-Prot

P10924, P62962

UniProtKB/TrEMBL

Q3U7V7, Q5SX50, Q8CEH8

Related

ENSMUSP00000018437.3, ENSMUST00000018437.3

Conserved Domains (1) summary

smart00392
Location:2 → 140

PROF; Profilin

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_000077.7 Reference GRCm39 C57BL/6J

Range

70542670..70547625 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245658.1 → XP_030101518.1 profilin-1 isoform X1

UniProtKB/Swiss-Prot

P10924, P62962

UniProtKB/TrEMBL

Q3U7V7, Q5SX50, Q8CEH8

Conserved Domains (1) summary

smart00392
Location:2 → 140

PROF; Profilin
XM_036156422.1 → XP_036012315.1 profilin-1 isoform X1

UniProtKB/Swiss-Prot

P10924, P62962

UniProtKB/TrEMBL

Q3U7V7, Q5SX50, Q8CEH8

Conserved Domains (1) summary

smart00392
Location:2 → 140

PROF; Profilin