InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PFN1

Summary

InnateDB Gene

IDBG-20332.6

Last Modified

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

Gene Symbol

PFN1

Gene Name

profilin 1

Synonyms

ALS18

Species

Homo sapiens

Ensembl Gene

ENSG00000108518

Encoded Proteins

IDBP-20336

profilin 1

IDBP-758806

IDBP-759242

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:4945652-4949061

Strand

Reverse strand

Band

p13.2

Transcripts

ENST00000225655	ENSP00000225655
ENST00000572383	ENSP00000460363
ENST00000574872	ENSP00000465019

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