PFN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AWI, 1CF0, 1CJF, 1FIK, 1FIL, 1PFL, 2PAV, 2PBD, 3CHW, 4X1L, 4X1M, 4X25
Identifiers
Aliases	PFN1, ALS18, Profilin 1
External IDs	OMIM: 176610 MGI: 97549 HomoloGene: 3684 GeneCards: PFN1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.2 Start 4,945,652 bp[1] End 4,949,061 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B3|11 43.21 cM Start 70,542,676 bp[2] End 70,545,470 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte thoracic aorta ascending aorta stromal cell of endometrium left coronary artery right coronary artery appendix popliteal artery spleen left uterine tube Top expressed in yolk sac thymus lymph node ascending aorta abdominal wall duodenum aortic valve belly cord maxillary prominence spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin monomer binding protein binding adenyl-nucleotide exchange factor activity actin binding proline-rich region binding RNA binding cadherin binding signaling receptor binding phosphatidylinositol-4,5-bisphosphate binding Cellular component cytosol blood microparticle membrane focal adhesion cell cortex extracellular exosome cytoskeleton cytoplasm nucleus extracellular space neuron projection synapse glutamatergic synapse Biological process positive regulation of actin filament polymerization positive regulation of ATP-dependent activity negative regulation of actin filament polymerization positive regulation of ruffle assembly regulation of transcription by RNA polymerase II protein stabilization positive regulation of epithelial cell migration negative regulation of actin filament bundle assembly neural tube closure positive regulation of actin filament bundle assembly negative regulation of stress fiber assembly actin cytoskeleton organization Wnt signaling pathway, planar cell polarity pathway response to organic substance positive regulation of transcription by RNA polymerase II positive regulation of viral transcription positive regulation of DNA metabolic process positive regulation of stress fiber assembly cellular response to growth factor stimulus regulation of actin filament polymerization synapse maturation modification of postsynaptic actin cytoskeleton Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5216 18643 Ensembl ENSG00000108518 ENSMUSG00000018293 UniProt P07737 P62962 RefSeq (mRNA) NM_005022 NM_001375991 NM_011072 RefSeq (protein) NP_005013 NP_001362920 NP_035202 Location (UCSC) Chr 17: 4.95 – 4.95 Mb Chr 11: 70.54 – 70.55 Mb PubMed search [3] [4]
Wikidata
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Profilin-1 is a protein that in humans is encoded by the PFN1 gene.^[5][6]

Function

The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome.^[7] Mutations in this gene may be a rare cause of amyotrophic lateral sclerosis, also called Lou Gehrig's disease.^{[8][9][10][11][12][13][14][15][16][17][18][19][20]}

Interactions

Profilin 1 has been shown to interact with:

• FMNL1,^[21]
• MLLT4^[22]
• Vasodilator-stimulated phosphoprotein,^[23]
• WASF1,^[24] and
• WASL.^[25][26]