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Pfn1 profilin 1 [ Mus musculus (house mouse) ]

Gene ID: 18643, updated on 14-Nov-2024

Summary

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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 central nervous system; cochlea; hemolymphoid system; liver; and lung. 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, Nov 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

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See Pfn1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene glycoprotein 1b, alpha polypeptide Neighboring gene solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 Neighboring gene STARR-positive B cell enhancer ABC_E1422 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70460970-70461079 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70461301-70461410 Neighboring gene STARR-positive B cell enhancer ABC_E7008 Neighboring gene ring finger protein 167 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70465643-70465931 Neighboring gene STARR-positive B cell enhancer ABC_E3969 Neighboring gene enolase 3, beta muscle Neighboring gene sperm associated antigen 7 Neighboring gene STARR-positive B cell enhancer ABC_E62 Neighboring gene calmodulin binding transcription activator 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Profilin-1 haploinsufficiency protects against obesity-associated glucose intolerance and preserves adipose tissue immune homeostasis. Romeo GR, et al. Diabetes, 2013 Nov. PMID 23884883, Free PMC Article
  2. Individual actin filaments in a microfluidic flow reveal the mechanism of ATP hydrolysis and give insight into the properties of profilin. Jégou A, et al. PLoS Biol, 2011 Sep. PMID 21980262, Free PMC Article
  3. Preserved morphology and physiology of excitatory synapses in profilin1-deficient mice. Görlich A, et al. PLoS One, 2012. PMID 22253883, Free PMC Article
  4. Disruption of profilin1 function suppresses developmental and pathological retinal neovascularization. Gau D, et al. J Biol Chem, 2020 Jul 10. PMID 32444495, Free PMC Article
  5. Profilin1 regulates sternum development and endochondral bone formation. Miyajima D, et al. J Biol Chem, 2012 Sep 28. PMID 22773831, Free PMC Article

See all (119) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. Profilin 1 deficiency drives mitotic defects and reduces genome stability.
    Title: Profilin 1 deficiency drives mitotic defects and reduces genome stability.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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)

  1. 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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    70542670..70547625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P62962.2 GenPept UniProtKB/Swiss-Prot:P62962

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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