InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PFN1

Summary

InnateDB Protein

IDBP-20336.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PFN1

Protein Name

profilin 1

Synonyms

ALS18;

Species

Homo sapiens

Ensembl Protein

ENSP00000225655

InnateDB Gene

IDBG-20332 (PFN1)

Protein Structure

UniProt Annotation

Function

Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR. {ECO:0000269PubMed:18573880}.

Subcellular Localization

Cytoplasm, cytoskeleton.

Disease Associations

Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:22801503}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in epididymis (at protein level). {ECO:0000269PubMed:20736409}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.

Experimentally validated
Total	71 [view]
Protein-Protein	69 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000774	adenyl-nucleotide exchange factor activity
GO:0003779	actin binding
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0017048	Rho GTPase binding
GO:0044822	poly(A) RNA binding
GO:0070064	proline-rich region binding

Biological Process

GO:0001843	neural tube closure
GO:0002576	platelet degranulation
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007596	blood coagulation
GO:0008219	cell death
GO:0010033	response to organic substance
GO:0010634	positive regulation of epithelial cell migration
GO:0030036	actin cytoskeleton organization
GO:0030168	platelet activation
GO:0030837	negative regulation of actin filament polymerization
GO:0030838	positive regulation of actin filament polymerization
GO:0032232	negative regulation of actin filament bundle assembly
GO:0032781	positive regulation of ATPase activity
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050434	positive regulation of viral transcription
GO:0051054	positive regulation of DNA metabolic process
GO:0051496	positive regulation of stress fiber assembly
GO:0051497	negative regulation of stress fiber assembly
GO:0071363	cellular response to growth factor stimulus
GO:1900029	positive regulation of ruffle assembly

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0016020	membrane
GO:0043005	neuron projection
GO:0045202	synapse
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle