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
profilin 1
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
Orthologs
No orthologs found for this gene
Pathways
NETPATH
EGFR1 pathway
REACTOME
PCP/CE pathway pathway
Developmental Biology pathway
beta-catenin independent WNT signaling pathway
Signaling by Wnt pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Axon guidance pathway
Signal Transduction pathway
Response to elevated platelet cytosolic Ca2+ pathway
Signaling by Robo receptor pathway
Hemostasis pathway
KEGG
Regulation of actin cytoskeleton pathway
Shigellosis pathway
INOH
PID BIOCARTA
Rho cell motility signaling pathway [Biocarta view]
Erk and pi-3 kinase are necessary for collagen binding in corneal epithelia [Biocarta view]
PID NCI
Cross-References
SwissProt P07737
TrEMBL I3L3D5 K7EJ44
UniProt Splice Variant
Entrez Gene 5216
UniGene
RefSeq NM_005022
HUGO HGNC:8881
OMIM 176610
CCDS CCDS11061
HPRD
IMGT
EMBL AC004771 AK312168 BC002475 BC006768 BC013439 BC015164 BC057828 BT007001 CH471108 CR407670 GU727630 J03191
GenPept AAA36486 AAH02475 AAH06768 AAH13439 AAH15164 AAH57828 AAP35647 ADU87632 BAG35102 CAG28598 EAW90381 EAW90382 EAW90383 EAW90384
RNA Seq Atlas 5216