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{{Short description|Protein-coding gene in the species Homo sapiens}} |
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{{Infobox_gene}} |
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'''Profilin-1''' is a [[protein]] that in humans is encoded by the ''PFN1'' [[gene]].<ref name="pmid3356709">{{cite journal | vauthors = Kwiatkowski DJ, Bruns GA | title = Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis | journal = J Biol Chem | volume = 263 | issue = 12 | pages = 5910–5 | date = May 1988 | doi = 10.1016/S0021-9258(18)60651-9 | pmid = 3356709 | doi-access = free }}</ref><ref name="pmid1968707">{{cite journal | vauthors = Kwiatkowski DJ, Aklog L, Ledbetter DH, Morton CC | title = 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 | journal = Am J Hum Genet | volume = 46 | issue = 3 | pages = 559–67 | date = April 1990 | pmid = 1968707 | pmc = 1683621 }}</ref> |
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== Function == |
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{{GNF_Protein_box |
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| image = PBB_Protein_PFN1_image.jpg |
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| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1awi. |
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| PDB = {{PDB2|1awi}}, {{PDB2|1cf0}}, {{PDB2|1cjf}}, {{PDB2|1fik}}, {{PDB2|1fil}}, {{PDB2|1hlu}}, {{PDB2|1pfl}}, {{PDB2|1pne}}, {{PDB2|2btf}} |
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| Name = Profilin 1 |
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| HGNCid = 8881 |
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| Symbol = PFN1 |
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| AltSymbols =; |
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| OMIM = 176610 |
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| ECnumber = |
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| Homologene = 3684 |
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| MGIid = 97549 |
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| GeneAtlas_image1 = PBB_GE_PFN1_200634_at_tn.png |
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| Function = {{GNF_GO|id=GO:0003785 |text = actin monomer binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} |
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| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}} |
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| Process = {{GNF_GO|id=GO:0001843 |text = neural tube closure}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007010 |text = cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}} |
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| Orthologs = {{GNF_Ortholog_box |
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| Hs_EntrezGene = 5216 |
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| Hs_Ensembl = ENSG00000108518 |
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| Hs_RefseqProtein = NP_005013 |
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| Hs_RefseqmRNA = NM_005022 |
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| Hs_GenLoc_db = |
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| Hs_GenLoc_chr = 17 |
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| Hs_GenLoc_start = 4789692 |
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| Hs_GenLoc_end = 4793067 |
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| Hs_Uniprot = P07737 |
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| Mm_EntrezGene = 18643 |
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| Mm_Ensembl = |
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| Mm_RefseqmRNA = NM_011072 |
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| Mm_RefseqProtein = NP_035202 |
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| Mm_GenLoc_db = |
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| Mm_GenLoc_chr = |
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| Mm_GenLoc_start = |
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| Mm_GenLoc_end = |
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| Mm_Uniprot = |
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}} |
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}} |
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'''Profilin 1''', also known as '''PFN1''', is a human [[gene]]. |
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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|Miller-Dieker syndrome]].<ref name="entrez">{{cite web | title = Entrez Gene: PFN1 profilin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5216}}</ref> Mutations in this gene may be a rare cause of [[amyotrophic lateral sclerosis]], also called Lou Gehrig's disease.<ref>{{cite journal | vauthors = Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH, Landers JE | display-authors = 6 | title = Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis | journal = Nature | volume = 488 | issue = 7412 | pages = 499–503 | date = August 2012 | pmid = 22801503 | pmc = 3575525 | doi = 10.1038/nature11280 | bibcode = 2012Natur.488..499W }}</ref><ref>{{cite journal | vauthors = Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupré N, Dion PA, Rouleau GA | title = Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients | journal = Neurobiology of Aging | volume = 34 | issue = 4 | pages = 1311.e1–2 | date = April 2013 | pmid = 23062600 | doi = 10.1016/j.neurobiolaging.2012.09.001 | s2cid = 42137823 }}</ref><ref>{{cite journal | vauthors = Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V | display-authors = 6 | title = Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia | journal = Neurobiology of Aging | volume = 34 | issue = 5 | pages = 1517.e9–10 | date = May 2013 | pmid = 23063648 | pmc = 3548975 | doi = 10.1016/j.neurobiolaging.2012.09.016 }}</ref><ref>{{cite journal | vauthors = Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH | display-authors = 6 | title = A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts | journal = Neurobiology of Aging | volume = 34 | issue = 6 | pages = 1708.e1–6 | date = June 2013 | pmid = 23141414 | doi = 10.1016/j.neurobiolaging.2012.10.009 | pmc = 6591725 }}</ref><ref>{{cite journal | vauthors = Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E | title = Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France | journal = Neurobiology of Aging | volume = 34 | issue = 6 | pages = 1709.e1–2 | date = June 2013 | pmid = 23182804 | doi = 10.1016/j.neurobiolaging.2012.10.026 | s2cid = 37470475 }}</ref><ref>{{cite journal | vauthors = Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, Merlin C, Cras P, Vandenberghe R, De Deyn PP, Jordanova A, Cruts M, Van Broeckhoven C, van der Zee J | display-authors = 6 | title = Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients | journal = Neurobiology of Aging | volume = 34 | issue = 6 | pages = 1711.e1–5 | date = June 2013 | pmid = 23312802 | doi = 10.1016/j.neurobiolaging.2012.12.007 | s2cid = 8448562 }}</ref><ref>{{cite journal | vauthors = Zou ZY, Sun Q, Liu MS, Li XG, Cui LY | title = Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin | journal = Neurobiology of Aging | volume = 34 | issue = 6 | pages = 1713.e5–6 | date = June 2013 | pmid = 23357624 | doi = 10.1016/j.neurobiolaging.2012.12.024 | s2cid = 9675956 }}</ref><ref>{{cite journal | vauthors = Chen Y, Zheng ZZ, Huang R, Chen K, Song W, Zhao B, Chen X, Yang Y, Yuan L, Shang HF | display-authors = 6 | title = PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis | journal = Neurobiology of Aging | volume = 34 | issue = 7 | pages = 1922.e1–5 | date = July 2013 | pmid = 23428184 | doi = 10.1016/j.neurobiolaging.2013.01.013 | s2cid = 25016105 }}</ref><ref>{{cite journal | vauthors = van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R | display-authors = 6 | title = Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia | journal = Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration | volume = 14 | issue = 5–6 | pages = 463–9 | date = September 2013 | pmid = 23634771 | pmc = 3923463 | doi = 10.3109/21678421.2013.787630 }}</ref><ref>{{cite journal | vauthors = Yang S, Fifita JA, Williams KL, Warraich ST, Pamphlett R, Nicholson GA, Blair IP | display-authors = 6 | title = Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis | journal = Neurobiology of Aging | volume = 34 | issue = 9 | pages = 2235.e7–10 | date = September 2013 | pmid = 23635659 | doi = 10.1016/j.neurobiolaging.2013.04.003 | s2cid = 19339337 }}</ref><ref>{{cite journal | vauthors = Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM | display-authors = 6 | title = Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis | journal = Journal of Neurology, Neurosurgery, and Psychiatry | volume = 85 | issue = 5 | pages = 506–8 | date = May 2014 | pmid = 24309268 | pmc = 3995330 | doi = 10.1136/jnnp-2013-306761 }}</ref><ref>{{cite journal | vauthors = Syriani E, Salvans C, Salvadó M, Morales M, Lorenzo L, Cazorla S, Gamez J | title = PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis | journal = Journal of Neurology | volume = 261 | issue = 12 | pages = 2387–92 | date = December 2014 | pmid = 25249294 | doi = 10.1007/s00415-014-7501-x | s2cid = 21281429 }}</ref><ref>{{cite journal | vauthors = Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, Maekawa S, King A, Mitchell JC, Lund K, Al-Chalabi A, Ticozzi N, Silani V, Sapp P, Brown RH, Landers JE, Al-Sarraj S, Shaw CE | display-authors = 6 | title = Novel mutations support a role for Profilin 1 in the pathogenesis of ALS | journal = Neurobiology of Aging | volume = 36 | issue = 3 | pages = 1602.e17–27 | date = March 2015 | pmid = 25499087 | pmc = 4357530 | doi = 10.1016/j.neurobiolaging.2014.10.032 }}</ref> |
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{{PBB_Summary |
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| section_title = |
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| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: PFN1 profilin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5216| accessdate = }}</ref> |
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}} |
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== |
== Interactions == |
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Profilin 1 has been shown to [[Protein-protein interaction|interact]] with: |
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⚫ | * [[FMNL1]],<ref name = pmid10958683>{{cite journal | vauthors = Yayoshi-Yamamoto S, Taniuchi I, Watanabe T | title = FRL, a novel formin-related protein, binds to Rac and regulates cell motility and survival of macrophages | journal = Mol. Cell. Biol. | volume = 20 | issue = 18 | pages = 6872–81 | date = September 2000 | pmid = 10958683 | pmc = 86228 | doi = 10.1128/mcb.20.18.6872-6881.2000}}</ref> |
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⚫ | * [[MLLT4]]<ref name = pmid10922060>{{cite journal | vauthors = Boettner B, Govek EE, Cross J, Van Aelst L | title = The junctional multidomain protein AF-6 is a binding partner of the Rap1A GTPase and associates with the actin cytoskeletal regulator profilin | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 97 | issue = 16 | pages = 9064–9 | date = August 2000 | pmid = 10922060 | pmc = 16822 | doi = 10.1073/pnas.97.16.9064| bibcode = 2000PNAS...97.9064B | doi-access = free }}</ref> |
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⚫ | * [[Vasodilator-stimulated phosphoprotein]],<ref name = pmid10882740>{{cite journal | vauthors = Harbeck B, Hüttelmaier S, Schluter K, Jockusch BM, Illenberger S | title = Phosphorylation of the vasodilator-stimulated phosphoprotein regulates its interaction with actin | journal = J. Biol. Chem. | volume = 275 | issue = 40 | pages = 30817–25 | date = October 2000 | pmid = 10882740 | doi = 10.1074/jbc.M005066200 | doi-access = free }}</ref> |
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* [[WASF1]],<ref name = pmid9843499>{{cite journal | vauthors = Miki H, Suetsugu S, Takenawa T | title = WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac | journal = EMBO J. | volume = 17 | issue = 23 | pages = 6932–41 | date = December 1998 | pmid = 9843499 | pmc = 1171041 | doi = 10.1093/emboj/17.23.6932 }}</ref> and |
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* [[WASL (gene)|WASL]].<ref name = pmid10867004>{{cite journal | vauthors = Mimuro H, Suzuki T, Suetsugu S, Miki H, Takenawa T, Sasakawa C | title = Profilin is required for sustaining efficient intra- and intercellular spreading of Shigella flexneri | journal = J. Biol. Chem. | volume = 275 | issue = 37 | pages = 28893–901 | date = September 2000 | pmid = 10867004 | doi = 10.1074/jbc.M003882200 | doi-access = free }}</ref><ref name = pmid9822597>{{cite journal | vauthors = Suetsugu S, Miki H, Takenawa T | title = The essential role of profilin in the assembly of actin for microspike formation | journal = EMBO J. | volume = 17 | issue = 22 | pages = 6516–26 | date = November 1998 | pmid = 9822597 | pmc = 1170999 | doi = 10.1093/emboj/17.22.6516 }}</ref> |
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== References == |
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{{reflist}} |
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==Further reading== |
== Further reading == |
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{{refbegin | 2}} |
{{refbegin | 2}} |
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* {{cite journal | vauthors = Qualmann B, Kessels MM | title = Endocytosis and the cytoskeleton | journal = Int. Rev. Cytol. | volume = 220 | pages = 93–144 | year = 2003 | pmid = 12224553 | doi = 10.1016/S0074-7696(02)20004-2 | isbn = 978-0-12-364624-8 | series = International Review of Cytology }} |
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{{PBB_Further_reading |
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* {{cite journal | vauthors = Ampe C, Markey F, Lindberg U, Vandekerckhove J | title = The primary structure of human platelet profilin: reinvestigation of the calf spleen profilin sequence | journal = FEBS Lett. | volume = 228 | issue = 1 | pages = 17–21 | year = 1988 | pmid = 3342873 | doi = 10.1016/0014-5793(88)80575-1 | s2cid = 23245396 | doi-access = }} |
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| citations = |
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*{{cite journal |
* {{cite journal | vauthors = Gieselmann R, Kwiatkowski DJ, Janmey PA, Witke W | title = Distinct biochemical characteristics of the two human profilin isoforms | journal = Eur. J. Biochem. | volume = 229 | issue = 3 | pages = 621–8 | year = 1995 | pmid = 7758455 | doi = 10.1111/j.1432-1033.1995.tb20506.x }} |
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*{{cite journal |
* {{cite journal | vauthors = Kato S, Sekine S, Oh SW, Kim NS, Umezawa Y, Abe N, Yokoyama-Kobayashi M, Aoki T | title = Construction of a human full-length cDNA bank | journal = Gene | volume = 150 | issue = 2 | pages = 243–50 | year = 1995 | pmid = 7821789 | doi = 10.1016/0378-1119(94)90433-2 }} |
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*{{cite journal |
* {{cite journal | vauthors = Metzler WJ, Constantine KL, Friedrichs MS, Bell AJ, Ernst EG, Lavoie TB, Mueller L | title = Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern | journal = Biochemistry | volume = 32 | issue = 50 | pages = 13818–29 | year = 1994 | pmid = 8268157 | doi = 10.1021/bi00213a010 }} |
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*{{cite journal |
* {{cite journal | vauthors = Schutt CE, Myslik JC, Rozycki MD, Goonesekere NC, Lindberg U | title = The structure of crystalline profilin-beta-actin | journal = Nature | volume = 365 | issue = 6449 | pages = 810–6 | year = 1993 | pmid = 8413665 | doi = 10.1038/365810a0 | bibcode = 1993Natur.365..810S | s2cid = 4359724 }} |
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*{{cite journal |
* {{cite journal | vauthors = Mahoney NM, Janmey PA, Almo SC | title = Structure of the profilin-poly-L-proline complex involved in morphogenesis and cytoskeletal regulation | journal = Nat. Struct. Biol. | volume = 4 | issue = 11 | pages = 953–60 | year = 1997 | pmid = 9360613 | doi = 10.1038/nsb1197-953 | s2cid = 7492336 }} |
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*{{cite journal |
* {{cite journal | vauthors = Mammoto A, Sasaki T, Asakura T, Hotta I, Imamura H, Takahashi K, Matsuura Y, Shirao T, Takai Y | title = Interactions of drebrin and gephyrin with profilin | journal = Biochem. Biophys. Res. Commun. | volume = 243 | issue = 1 | pages = 86–9 | year = 1998 | pmid = 9473484 | doi = 10.1006/bbrc.1997.8068 }} |
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*{{cite journal |
* {{cite journal | vauthors = Bhargavi V, Chari VB, Singh SS | title = Phosphatidylinositol 3-kinase binds to profilin through the p85 alpha subunit and regulates cytoskeletal assembly | journal = Biochem. Mol. Biol. Int. | volume = 46 | issue = 2 | pages = 241–8 | year = 1998 | pmid = 9801792 | doi = 10.1080/15216549800203752 | s2cid = 1764456 | doi-access = }} |
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*{{cite journal |
* {{cite journal | vauthors = Suetsugu S, Miki H, Takenawa T | title = The essential role of profilin in the assembly of actin for microspike formation | journal = EMBO J. | volume = 17 | issue = 22 | pages = 6516–26 | year = 1999 | pmid = 9822597 | pmc = 1170999 | doi = 10.1093/emboj/17.22.6516 }} |
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*{{cite journal |
* {{cite journal | vauthors = Miki H, Suetsugu S, Takenawa T | title = WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac | journal = EMBO J. | volume = 17 | issue = 23 | pages = 6932–41 | year = 1999 | pmid = 9843499 | pmc = 1171041 | doi = 10.1093/emboj/17.23.6932 }} |
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*{{cite journal |
* {{cite journal | vauthors = Mahoney NM, Rozwarski DA, Fedorov E, Fedorov AA, Almo SC | title = Profilin binds proline-rich ligands in two distinct amide backbone orientations | journal = Nat. Struct. Biol. | volume = 6 | issue = 7 | pages = 666–71 | year = 1999 | pmid = 10404225 | doi = 10.1038/10722 | s2cid = 10994213 }} |
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*{{cite journal |
* {{cite journal | vauthors = Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S | title = A heterozygous mutation of β-actin associated with neutrophil dysfunction and recurrent infection | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 96 | issue = 15 | pages = 8693–8 | year = 1999 | pmid = 10411937 | pmc = 17578 | doi = 10.1073/pnas.96.15.8693 | bibcode = 1999PNAS...96.8693N | doi-access = free }} |
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*{{cite journal |
* {{cite journal | vauthors = Murphy GA, Solski PA, Jillian SA, Pérez de la Ossa P, D'Eustachio P, Der CJ, Rush MG | title = Cellular functions of TC10, a Rho family GTPase: regulation of morphology, signal transduction and cell growth | journal = Oncogene | volume = 18 | issue = 26 | pages = 3831–45 | year = 1999 | pmid = 10445846 | doi = 10.1038/sj.onc.1202758 | s2cid = 13589258 | doi-access = }} |
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*{{cite journal |
* {{cite journal | vauthors = Harbeck B, Hüttelmaier S, Schluter K, Jockusch BM, Illenberger S | title = Phosphorylation of the vasodilator-stimulated phosphoprotein regulates its interaction with actin | journal = J. Biol. Chem. | volume = 275 | issue = 40 | pages = 30817–25 | year = 2000 | pmid = 10882740 | doi = 10.1074/jbc.M005066200 | doi-access = free }} |
||
*{{cite journal |
* {{cite journal | vauthors = Boettner B, Govek EE, Cross J, Van Aelst L | title = The junctional multidomain protein AF-6 is a binding partner of the Rap1A GTPase and associates with the actin cytoskeletal regulator profilin | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 97 | issue = 16 | pages = 9064–9 | year = 2000 | pmid = 10922060 | pmc = 16822 | doi = 10.1073/pnas.97.16.9064 | bibcode = 2000PNAS...97.9064B | doi-access = free }} |
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*{{cite journal |
* {{cite journal | vauthors = Yayoshi-Yamamoto S, Taniuchi I, Watanabe T | title = FRL, a Novel Formin-Related Protein, Binds to Rac and Regulates Cell Motility and Survival of Macrophages | journal = Mol. Cell. Biol. | volume = 20 | issue = 18 | pages = 6872–81 | year = 2000 | pmid = 10958683 | pmc = 86228 | doi = 10.1128/MCB.20.18.6872-6881.2000 }} |
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*{{cite journal |
* {{cite journal | vauthors = Mellon MB, Frank BT, Fang KC | title = Mast cell alpha-chymase reduces IgE recognition of birch pollen profilin by cleaving antibody-binding epitopes | journal = J. Immunol. | volume = 168 | issue = 1 | pages = 290–7 | year = 2002 | pmid = 11751973 | doi = 10.4049/jimmunol.168.1.290 | doi-access = free }} |
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⚫ | *{{cite journal |
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⚫ | *{{cite journal |
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⚫ | |||
*{{cite journal | author=Mellon MB, Frank BT, Fang KC |title=Mast cell alpha-chymase reduces IgE recognition of birch pollen profilin by cleaving antibody-binding epitopes. |journal=J. Immunol. |volume=168 |issue= 1 |pages= 290-7 |year= 2002 |pmid= 11751973 |doi= }} |
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}} |
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{{refend}} |
{{refend}} |
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{{Cytoskeletal Proteins}} |
Latest revision as of 21:08, 22 December 2023
Profilin-1 is a protein that in humans is encoded by the PFN1 gene.[5][6]
Function
[edit]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
[edit]Profilin 1 has been shown to interact with:
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000108518 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018293 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Kwiatkowski DJ, Bruns GA (May 1988). "Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis". J Biol Chem. 263 (12): 5910–5. doi:10.1016/S0021-9258(18)60651-9. PMID 3356709.
- ^ 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.
- ^ "Entrez Gene: PFN1 profilin 1".
- ^ 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. Bibcode:2012Natur.488..499W. doi:10.1038/nature11280. PMC 3575525. PMID 22801503.
- ^ 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. S2CID 42137823.
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Further reading
[edit]- 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.
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