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Survival of motor neuron

August 31, 2023

Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.

Survival motor neuron protein
Tudor domain from human SMN. PDB 1g5v[1]
Identifiers
SymbolSMN
PfamPF06003
Pfam clanCL0049
InterProIPR010304
SCOP21mhn / SCOPe / SUPFAM
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary

SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking.[2] SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy. Research also showed a possible role of SMN in neuronal migration and/or differentiation.[3]

Function Edit

The SMN protein contains GEMIN2-binding, Tudor and YG-Box domains.[4] It localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as GEMIN2 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein.[5]

SMN complex Edit

SMN complex refers to the entire multi-protein complex involved in the assembly of snRNPs, the essential components of spliceosomal machinery.[6] The complex, apart from the "proper" survival of motor neuron protein, includes at least six other proteins (gem-associated protein 2, 3, 4, 5, 6 and 7.[6]

Interactions Edit

SMN has been shown to interact with:

Evolutionary conservation Edit

SMN is evolutionarily conserved including the Fungi kingdom, though only fungal organisms with a great number of introns have the Smn gene (or the splicing factor spf30 paralogue). Surprisingly, these are filamentous fungus which have mycelia, so suggesting analogy to the neuronal axons.[26]

See also Edit

References Edit

  1. ^ Selenko P, Sprangers R, Stier G, Bühler D, Fischer U, Sattler M (January 2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nature Structural Biology. 8 (1): 27–31. doi:10.1038/83014. PMID 11135666.
  2. ^ Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy". RNA Biology. 6 (3): 341–50. doi:10.4161/rna.6.3.8723. PMC 2734876. PMID 19430205.
  3. ^ Giavazzi A, Setola V, Simonati A, Battaglia G (March 2006). "Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system". Journal of Neuropathology and Experimental Neurology. 65 (3): 267–77. doi:10.1097/01.jnen.0000205144.54457.a3. PMID 16651888.
  4. ^ Martin R, Gupta K, Ninan NS, Perry K, Van Duyne GD (November 2012). "The survival motor neuron protein forms soluble glycine zipper oligomers". Structure. 20 (11): 1929–39. doi:10.1016/j.str.2012.08.024. PMC 3519385. PMID 23022347.
  5. ^ "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".
  6. ^ a b Gubitz AK, Feng W, Dreyfuss G (May 2004). "The SMN complex". Experimental Cell Research. 296 (1): 51–6. doi:10.1016/j.yexcr.2004.03.022. PMID 15120993.
  7. ^ Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y (November 1997). "Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy". Nature. 390 (6658): 413–7. doi:10.1038/37144. PMID 9389483.
  8. ^ Hebert MD, Shpargel KB, Ospina JK, Tucker KE, Matera AG (September 2002). "Coilin methylation regulates nuclear body formation". Developmental Cell. 3 (3): 329–37. doi:10.1016/S1534-5807(02)00222-8. PMID 12361597.
  9. ^ Hebert MD, Szymczyk PW, Shpargel KB, Matera AG (October 2001). "Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein". Genes & Development. 15 (20): 2720–9. doi:10.1101/gad.908401. PMC 312817. PMID 11641277.
  10. ^ a b c Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT (May 2003). "Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs". Journal of Cell Science. 116 (Pt 10): 1905–13. doi:10.1242/jcs.00409. PMID 12668731.
  11. ^ a b c d e Meister G, Bühler D, Laggerbauer B, Zobawa M, Lottspeich F, Fischer U (August 2000). "Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins". Human Molecular Genetics. 9 (13): 1977–86. doi:10.1093/hmg/9.13.1977. PMID 10942426.
  12. ^ Mourelatos Z, Dostie J, Paushkin S, Sharma A, Charroux B, Abel L, Rappsilber J, Mann M, Dreyfuss G (March 2002). "miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs". Genes & Development. 16 (6): 720–8. doi:10.1101/gad.974702. PMC 155365. PMID 11914277.
  13. ^ Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G (December 1999). "Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell Biology. 147 (6): 1181–94. doi:10.1083/jcb.147.6.1181. PMC 2168095. PMID 10601333.
  14. ^ Pellizzoni L, Charroux B, Rappsilber J, Mann M, Dreyfuss G (January 2001). "A functional interaction between the survival motor neuron complex and RNA polymerase II". The Journal of Cell Biology. 152 (1): 75–85. doi:10.1083/jcb.152.1.75. PMC 2193649. PMID 11149922.
  15. ^ a b Pellizzoni L, Baccon J, Charroux B, Dreyfuss G (July 2001). "The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1". Current Biology. 11 (14): 1079–88. doi:10.1016/S0960-9822(01)00316-5. PMID 11509230.
  16. ^ Williams BY, Hamilton SL, Sarkar HK (March 2000). "The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain". FEBS Letters. 470 (2): 207–10. doi:10.1016/S0014-5793(00)01320-X. PMID 10734235.
  17. ^ a b Liu Q, Fischer U, Wang F, Dreyfuss G (September 1997). "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins". Cell. 90 (6): 1013–21. doi:10.1016/S0092-8674(00)80367-0. PMID 9323129.
  18. ^ Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G (February 2002). "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins". The Journal of Biological Chemistry. 277 (7): 5631–6. doi:10.1074/jbc.M109448200. PMID 11714716.
  19. ^ Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (August 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID 12065586.
  20. ^ Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (March 2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". The Journal of Biological Chemistry. 277 (9): 7540–5. doi:10.1074/jbc.M110141200. PMID 11748230.
  21. ^ Mourelatos Z, Abel L, Yong J, Kataoka N, Dreyfuss G (October 2001). "SMN interacts with a novel family of hnRNP and spliceosomal proteins". The EMBO Journal. 20 (19): 5443–52. doi:10.1093/emboj/20.19.5443. PMC 125643. PMID 11574476.
  22. ^ Rossoll W, Kröning AK, Ohndorf UM, Steegborn C, Jablonka S, Sendtner M (January 2002). "Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?". Human Molecular Genetics. 11 (1): 93–105. doi:10.1093/hmg/11.1.93. PMID 11773003.
  23. ^ Narayanan U, Ospina JK, Frey MR, Hebert MD, Matera AG (July 2002). "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta". Human Molecular Genetics. 11 (15): 1785–95. doi:10.1093/hmg/11.15.1785. PMC 1630493. PMID 12095920.
  24. ^ Young PJ, Day PM, Zhou J, Androphy EJ, Morris GE, Lorson CL (January 2002). "A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy". The Journal of Biological Chemistry. 277 (4): 2852–9. doi:10.1074/jbc.M108769200. PMID 11704667.
  25. ^ Friesen WJ, Dreyfuss G (August 2000). "Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". The Journal of Biological Chemistry. 275 (34): 26370–5. doi:10.1074/jbc.M003299200. PMID 10851237.
  26. ^ Mier P, Pérez-Pulido AJ (January 2012). "Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy" (PDF). Gene. 491 (2): 135–41. doi:10.1016/j.gene.2011.10.006. PMID 22020225.

External links Edit

August 31, 2023
survival, motor, neuron, survival, motor, neuron, protein, that, humans, encoded, smn1, smn2, genes, survival, motor, neuron, proteintudor, domain, from, human, 1g5v, identifierssymbolsmnpfampf06003pfam, clancl0049interproipr010304scop21mhn, scope, supfamavail. Survival of motor neuron or survival motor neuron SMN is a protein that in humans is encoded by the SMN1 and SMN2 genes Survival motor neuron proteinTudor domain from human SMN PDB 1g5v 1 IdentifiersSymbolSMNPfamPF06003Pfam clanCL0049InterProIPR010304SCOP21mhn SCOPe SUPFAMAvailable protein structures Pfam structures ECOD PDBRCSB PDB PDBe PDBjPDBsumstructure summarySMN is found in the cytoplasm of all animal cells and also in the nuclear gems It functions in transcriptional regulation telomerase regeneration and cellular trafficking 2 SMN deficiency primarily due to mutations in SMN1 results in widespread splicing defects especially in spinal motor neurons and is one cause of spinal muscular atrophy Research also showed a possible role of SMN in neuronal migration and or differentiation 3 Contents 1 Function 2 SMN complex 3 Interactions 4 Evolutionary conservation 5 See also 6 References 7 External linksFunction EditThe SMN protein contains GEMIN2 binding Tudor and YG Box domains 4 It localizes to both the cytoplasm and the nucleus Within the nucleus the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins snRNPs This protein forms heteromeric complexes with proteins such as GEMIN2 and GEMIN4 and also interacts with several proteins known to be involved in the biogenesis of snRNPs such as hnRNP U protein and the small nucleolar RNA binding protein 5 SMN complex EditSMN complex refers to the entire multi protein complex involved in the assembly of snRNPs the essential components of spliceosomal machinery 6 The complex apart from the proper survival of motor neuron protein includes at least six other proteins gem associated protein 2 3 4 5 6 and 7 6 Interactions EditSMN has been shown to interact with Bcl 2 7 Coilin 8 9 DDX20 10 11 12 13 DHX9 14 FBL 15 FUBP1 16 GAR1 15 GEMIN2 10 11 17 GEMIN4 10 11 GEMIN5 18 GEMIN7 19 20 HNRNPR 21 22 KPNB1 23 P53 24 SNRPD1 11 17 25 and SNRPD2 11 Evolutionary conservation EditSMN is evolutionarily conserved including the Fungi kingdom though only fungal organisms with a great number of introns have the Smn gene or the splicing factor spf30 paralogue Surprisingly these are filamentous fungus which have mycelia so suggesting analogy to the neuronal axons 26 See also EditGideon DreyfussReferences Edit Selenko P Sprangers R Stier G Buhler D Fischer U Sattler M January 2001 SMN tudor domain structure and its interaction with the Sm proteins Nature Structural Biology 8 1 27 31 doi 10 1038 83014 PMID 11135666 Singh NN Shishimorova M Cao LC Gangwani L Singh RN 2009 A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy RNA Biology 6 3 341 50 doi 10 4161 rna 6 3 8723 PMC 2734876 PMID 19430205 Giavazzi A Setola V Simonati A Battaglia G March 2006 Neuronal specific roles of the survival motor neuron protein evidence from survival motor neuron expression patterns in the developing human central nervous system Journal of Neuropathology and Experimental Neurology 65 3 267 77 doi 10 1097 01 jnen 0000205144 54457 a3 PMID 16651888 Martin R Gupta K Ninan NS Perry K Van Duyne GD November 2012 The survival motor neuron protein forms soluble glycine zipper oligomers Structure 20 11 1929 39 doi 10 1016 j str 2012 08 024 PMC 3519385 PMID 23022347 Entrez Gene SMN1 survival of motor neuron 1 telomeric a b Gubitz AK Feng W Dreyfuss G May 2004 The SMN complex Experimental Cell Research 296 1 51 6 doi 10 1016 j yexcr 2004 03 022 PMID 15120993 Iwahashi H Eguchi Y Yasuhara N Hanafusa T Matsuzawa Y Tsujimoto Y November 1997 Synergistic anti apoptotic activity between Bcl 2 and SMN implicated in spinal muscular atrophy Nature 390 6658 413 7 doi 10 1038 37144 PMID 9389483 Hebert MD Shpargel KB Ospina JK Tucker KE Matera AG September 2002 Coilin methylation regulates nuclear body formation Developmental Cell 3 3 329 37 doi 10 1016 S1534 5807 02 00222 8 PMID 12361597 Hebert MD Szymczyk PW Shpargel KB Matera AG October 2001 Coilin forms the bridge between Cajal bodies and SMN the spinal muscular atrophy protein Genes amp Development 15 20 2720 9 doi 10 1101 gad 908401 PMC 312817 PMID 11641277 a b c Carnegie GK Sleeman JE Morrice N Hastie CJ Peggie MW Philp A Lamond AI Cohen PT May 2003 Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs Journal of Cell Science 116 Pt 10 1905 13 doi 10 1242 jcs 00409 PMID 12668731 a b c d e Meister G Buhler D Laggerbauer B Zobawa M Lottspeich F Fischer U August 2000 Characterization of a nuclear 20S complex containing the survival of motor neurons SMN protein and a specific subset of spliceosomal Sm proteins Human Molecular Genetics 9 13 1977 86 doi 10 1093 hmg 9 13 1977 PMID 10942426 Mourelatos Z Dostie J Paushkin S Sharma A Charroux B Abel L Rappsilber J Mann M Dreyfuss G March 2002 miRNPs a novel class of ribonucleoproteins containing numerous microRNAs Genes amp Development 16 6 720 8 doi 10 1101 gad 974702 PMC 155365 PMID 11914277 Charroux B Pellizzoni L Perkinson RA Shevchenko A Mann M Dreyfuss G December 1999 Gemin3 A novel DEAD box protein that interacts with SMN the spinal muscular atrophy gene product and is a component of gems The Journal of Cell Biology 147 6 1181 94 doi 10 1083 jcb 147 6 1181 PMC 2168095 PMID 10601333 Pellizzoni L Charroux B Rappsilber J Mann M Dreyfuss G January 2001 A functional interaction between the survival motor neuron complex and RNA polymerase II The Journal of Cell Biology 152 1 75 85 doi 10 1083 jcb 152 1 75 PMC 2193649 PMID 11149922 a b Pellizzoni L Baccon J Charroux B Dreyfuss G July 2001 The survival of motor neurons SMN protein interacts with the snoRNP proteins fibrillarin and GAR1 Current Biology 11 14 1079 88 doi 10 1016 S0960 9822 01 00316 5 PMID 11509230 Williams BY Hamilton SL Sarkar HK March 2000 The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain FEBS Letters 470 2 207 10 doi 10 1016 S0014 5793 00 01320 X PMID 10734235 a b Liu Q Fischer U Wang F Dreyfuss G September 1997 The spinal muscular atrophy disease gene product SMN and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins Cell 90 6 1013 21 doi 10 1016 S0092 8674 00 80367 0 PMID 9323129 Gubitz AK Mourelatos Z Abel L Rappsilber J Mann M Dreyfuss G February 2002 Gemin5 a novel WD repeat protein component of the SMN complex that binds Sm proteins The Journal of Biological Chemistry 277 7 5631 6 doi 10 1074 jbc M109448200 PMID 11714716 Baccon J Pellizzoni L Rappsilber J Mann M Dreyfuss G August 2002 Identification and characterization of Gemin7 a novel component of the survival of motor neuron complex The Journal of Biological Chemistry 277 35 31957 62 doi 10 1074 jbc M203478200 PMID 12065586 Pellizzoni L Baccon J Rappsilber J Mann M Dreyfuss G March 2002 Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component The Journal of Biological Chemistry 277 9 7540 5 doi 10 1074 jbc M110141200 PMID 11748230 Mourelatos Z Abel L Yong J Kataoka N Dreyfuss G October 2001 SMN interacts with a novel family of hnRNP and spliceosomal proteins The EMBO Journal 20 19 5443 52 doi 10 1093 emboj 20 19 5443 PMC 125643 PMID 11574476 Rossoll W Kroning AK Ohndorf UM Steegborn C Jablonka S Sendtner M January 2002 Specific interaction of Smn the spinal muscular atrophy determining gene product with hnRNP R and gry rbp hnRNP Q a role for Smn in RNA processing in motor axons Human Molecular Genetics 11 1 93 105 doi 10 1093 hmg 11 1 93 PMID 11773003 Narayanan U Ospina JK Frey MR Hebert MD Matera AG July 2002 SMN the spinal muscular atrophy protein forms a pre import snRNP complex with snurportin1 and importin beta Human Molecular Genetics 11 15 1785 95 doi 10 1093 hmg 11 15 1785 PMC 1630493 PMID 12095920 Young PJ Day PM Zhou J Androphy EJ Morris GE Lorson CL January 2002 A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy The Journal of Biological Chemistry 277 4 2852 9 doi 10 1074 jbc M108769200 PMID 11704667 Friesen WJ Dreyfuss G August 2000 Specific sequences of the Sm and Sm like Lsm proteins mediate their interaction with the spinal muscular atrophy disease gene product SMN The Journal of Biological Chemistry 275 34 26370 5 doi 10 1074 jbc M003299200 PMID 10851237 Mier P Perez Pulido AJ January 2012 Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns implications for spinal muscular atrophy PDF Gene 491 2 135 41 doi 10 1016 j gene 2011 10 006 PMID 22020225 External links EditSMN protein spinal muscular atrophy at the U S National Library of Medicine Medical Subject Headings MeSH Retrieved from https en wikipedia org w index php title Survival of motor neuron amp oldid 1061297993, wikipedia, wiki, book, books, library,

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