Profilin-1 is a protein that in humans is encoded by the PFN1 gene.[5][6]
Quick Facts PFN1, Available structures ...
PFN1 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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1AWI, 1CF0, 1CJF, 1FIK, 1FIL, 1PFL, 2PAV, 2PBD, 3CHW, 4X1L, 4X1M, 4X25 |
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Identifiers |
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Aliases | PFN1, ALS18, Profilin 1 |
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External IDs | OMIM: 176610; MGI: 97549; HomoloGene: 3684; GeneCards: PFN1; OMA:PFN1 - orthologs |
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Wikidata |
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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]
Profilin 1 has been shown to interact with:
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. S2CID 37470475.
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. S2CID 8448562.
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. S2CID 19339337.
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. S2CID 21281429.
- Qualmann B, Kessels MM (2003). "Endocytosis and the cytoskeleton". Int. Rev. Cytol. International Review of Cytology. 220: 93–144. doi:10.1016/S0074-7696(02)20004-2. ISBN 978-0-12-364624-8. PMID 12224553.
- Ampe C, Markey F, Lindberg U, Vandekerckhove J (1988). "The primary structure of human platelet profilin: reinvestigation of the calf spleen profilin sequence". FEBS Lett. 228 (1): 17–21. doi:10.1016/0014-5793(88)80575-1. PMID 3342873. S2CID 23245396.
- Gieselmann R, Kwiatkowski DJ, Janmey PA, Witke W (1995). "Distinct biochemical characteristics of the two human profilin isoforms". Eur. J. Biochem. 229 (3): 621–8. doi:10.1111/j.1432-1033.1995.tb20506.x. PMID 7758455.
- Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T (1995). "Construction of a human full-length cDNA bank". Gene. 150 (2): 243–50. doi:10.1016/0378-1119(94)90433-2. PMID 7821789.
- Metzler WJ, Constantine KL, Friedrichs MS, Bell AJ, Ernst EG, Lavoie TB, Mueller L (1994). "Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern". Biochemistry. 32 (50): 13818–29. doi:10.1021/bi00213a010. PMID 8268157.
- Schutt CE, Myslik JC, Rozycki MD, Goonesekere NC, Lindberg U (1993). "The structure of crystalline profilin-beta-actin". Nature. 365 (6449): 810–6. Bibcode:1993Natur.365..810S. doi:10.1038/365810a0. PMID 8413665. S2CID 4359724.
- Mahoney NM, Janmey PA, Almo SC (1997). "Structure of the profilin-poly-L-proline complex involved in morphogenesis and cytoskeletal regulation". Nat. Struct. Biol. 4 (11): 953–60. doi:10.1038/nsb1197-953. PMID 9360613. S2CID 7492336.
- Mammoto A, Sasaki T, Asakura T, Hotta I, Imamura H, Takahashi K, Matsuura Y, Shirao T, Takai Y (1998). "Interactions of drebrin and gephyrin with profilin". Biochem. Biophys. Res. Commun. 243 (1): 86–9. doi:10.1006/bbrc.1997.8068. PMID 9473484.
- Bhargavi V, Chari VB, Singh SS (1998). "Phosphatidylinositol 3-kinase binds to profilin through the p85 alpha subunit and regulates cytoskeletal assembly". Biochem. Mol. Biol. Int. 46 (2): 241–8. doi:10.1080/15216549800203752. PMID 9801792. S2CID 1764456.
- Suetsugu S, Miki H, Takenawa T (1999). "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.
- Miki H, Suetsugu S, Takenawa T (1999). "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.
- Mahoney NM, Rozwarski DA, Fedorov E, Fedorov AA, Almo SC (1999). "Profilin binds proline-rich ligands in two distinct amide backbone orientations". Nat. Struct. Biol. 6 (7): 666–71. doi:10.1038/10722. PMID 10404225. S2CID 10994213.
- Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S (1999). "A heterozygous mutation of β-actin associated with neutrophil dysfunction and recurrent infection". Proc. Natl. Acad. Sci. U.S.A. 96 (15): 8693–8. Bibcode:1999PNAS...96.8693N. doi:10.1073/pnas.96.15.8693. PMC 17578. PMID 10411937.
- Murphy GA, Solski PA, Jillian SA, Pérez de la Ossa P, D'Eustachio P, Der CJ, Rush MG (1999). "Cellular functions of TC10, a Rho family GTPase: regulation of morphology, signal transduction and cell growth". Oncogene. 18 (26): 3831–45. doi:10.1038/sj.onc.1202758. PMID 10445846. S2CID 13589258.
- Harbeck B, Hüttelmaier S, Schluter K, Jockusch BM, Illenberger S (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.
- Boettner B, Govek EE, Cross J, Van Aelst L (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. Bibcode:2000PNAS...97.9064B. doi:10.1073/pnas.97.16.9064. PMC 16822. PMID 10922060.
- Yayoshi-Yamamoto S, Taniuchi I, Watanabe T (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.
- Mellon MB, Frank BT, Fang KC (2002). "Mast cell alpha-chymase reduces IgE recognition of birch pollen profilin by cleaving antibody-binding epitopes". J. Immunol. 168 (1): 290–7. doi:10.4049/jimmunol.168.1.290. PMID 11751973.