Profilin 1

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External IDsGeneCards: [1]
RefSeq (mRNA)



RefSeq (protein)



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Profilin-1 is a protein that in humans is encoded by the PFN1 gene.[1][2]


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.[3] Mutations in this gene may be a rare cause of amyotrophic lateral sclerosis, also called Lou Gehrig's disease.[4][5][6][7][8][9][10][11][12][13][14][15][16]


Profilin 1 has been shown to interact with:


  1. Kwiatkowski DJ, Bruns GA (May 1988). "Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis". J Biol Chem. 263 (12): 5910–5. PMID 3356709.
  2. Kwiatkowski DJ, Aklog L, Ledbetter DH, Morton CC (April 1990). "Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome". Am J Hum Genet. 46 (3): 559–67. PMC 1683621. PMID 1968707.
  3. "Entrez Gene: PFN1 profilin 1".
  4. Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, et al. (August 2012). "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis". Nature. 488 (7412): 499–503. doi:10.1038/nature11280. PMC 3575525. PMID 22801503.
  5. Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupré N, Dion PA, Rouleau GA (April 2013). "Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients". Neurobiology of Aging. 34 (4): 1311.e1–2. doi:10.1016/j.neurobiolaging.2012.09.001. PMID 23062600.
  6. Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, et al. (May 2013). "Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia". Neurobiology of Aging. 34 (5): 1517.e9–10. doi:10.1016/j.neurobiolaging.2012.09.016. PMC 3548975. PMID 23063648.
  7. Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, et al. (June 2013). "A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts". Neurobiology of Aging. 34 (6): 1708.e1–6. doi:10.1016/j.neurobiolaging.2012.10.009. PMID 23141414.
  8. Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E (June 2013). "Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France". Neurobiology of Aging. 34 (6): 1709.e1–2. doi:10.1016/j.neurobiolaging.2012.10.026. PMID 23182804.
  9. Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, et al. (June 2013). "Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients". Neurobiology of Aging. 34 (6): 1711.e1–5. doi:10.1016/j.neurobiolaging.2012.12.007. PMID 23312802.
  10. Zou ZY, Sun Q, Liu MS, Li XG, Cui LY (June 2013). "Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin". Neurobiology of Aging. 34 (6): 1713.e5–6. doi:10.1016/j.neurobiolaging.2012.12.024. PMID 23357624.
  11. Chen Y, Zheng ZZ, Huang R, Chen K, Song W, Zhao B, et al. (July 2013). "PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis". Neurobiology of Aging. 34 (7): 1922.e1–5. doi:10.1016/j.neurobiolaging.2013.01.013. PMID 23428184.
  12. van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, et al. (September 2013). "Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia". Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14 (5–6): 463–9. doi:10.3109/21678421.2013.787630. PMC 3923463. PMID 23634771.
  13. Yang S, Fifita JA, Williams KL, Warraich ST, Pamphlett R, Nicholson GA, et al. (September 2013). "Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis". Neurobiology of Aging. 34 (9): 2235.e7–10. doi:10.1016/j.neurobiolaging.2013.04.003. PMID 23635659.
  14. Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, et al. (May 2014). "Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis". Journal of Neurology, Neurosurgery, and Psychiatry. 85 (5): 506–8. doi:10.1136/jnnp-2013-306761. PMC 3995330. PMID 24309268.
  15. Syriani E, Salvans C, Salvadó M, Morales M, Lorenzo L, Cazorla S, Gamez J (December 2014). "PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis". Journal of Neurology. 261 (12): 2387–92. doi:10.1007/s00415-014-7501-x. PMID 25249294.
  16. Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, et al. (March 2015). "Novel mutations support a role for Profilin 1 in the pathogenesis of ALS". Neurobiology of Aging. 36 (3): 1602.e17–27. doi:10.1016/j.neurobiolaging.2014.10.032. PMC 4357530. PMID 25499087.
  17. Yayoshi-Yamamoto S, Taniuchi I, Watanabe T (September 2000). "FRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages". Mol. Cell. Biol. 20 (18): 6872–81. doi:10.1128/mcb.20.18.6872-6881.2000. PMC 86228. PMID 10958683.
  18. Boettner B, Govek EE, Cross J, Van Aelst L (August 2000). "The junctional multidomain protein AF-6 is a binding partner of the Rap1A GTPase and associates with the actin cytoskeletal regulator profilin". Proc. Natl. Acad. Sci. U.S.A. 97 (16): 9064–9. doi:10.1073/pnas.97.16.9064. PMC 16822. PMID 10922060.
  19. Harbeck B, Hüttelmaier S, Schluter K, Jockusch BM, Illenberger S (October 2000). "Phosphorylation of the vasodilator-stimulated phosphoprotein regulates its interaction with actin". J. Biol. Chem. 275 (40): 30817–25. doi:10.1074/jbc.M005066200. PMID 10882740.
  20. Miki H, Suetsugu S, Takenawa T (December 1998). "WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac". EMBO J. 17 (23): 6932–41. doi:10.1093/emboj/17.23.6932. PMC 1171041. PMID 9843499.
  21. Mimuro H, Suzuki T, Suetsugu S, Miki H, Takenawa T, Sasakawa C (September 2000). "Profilin is required for sustaining efficient intra- and intercellular spreading of Shigella flexneri". J. Biol. Chem. 275 (37): 28893–901. doi:10.1074/jbc.M003882200. PMID 10867004.
  22. Suetsugu S, Miki H, Takenawa T (November 1998). "The essential role of profilin in the assembly of actin for microspike formation". EMBO J. 17 (22): 6516–26. doi:10.1093/emboj/17.22.6516. PMC 1170999. PMID 9822597.

Further reading