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Title: Smn1  
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Subject: SMN2, DNAJC13, DNAJB4, DNAJC10, DNAJC11
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Survival of motor neuron 1, telomeric

PDB rendering based on [1].
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A
External IDs ChEMBL: GeneCards:
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Survival motor neuron protein also known as component of gems 1 or gemin-1 is a protein that in humans is encoded by the SMN1 gene.[2] Two transcript variants are produced by this gene.[3]


  • Gene 1
  • Clinical significance 2
  • Function 3
  • Interactions 4
  • See also 5
  • References 6
  • Further reading 7
  • External links 8


This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein.[3]

Clinical significance

Mutations in the telomeric copy of this gene are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.[3]


The protein encoded by this gene 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 SIP1 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.[3]


SMN1 has been shown to interact with:

See also


  1. ^ Sattler, M.; Selenko, P.; Sprangers, R.; Stier, G.; Bühler, D.; Fischer, U. (2001). "SMN tudor domain structure and its interaction with the Sm proteins". Nature Structural Biology 8 (1): 27–31.  
  2. ^ Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al (February 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell 80 (1): 155–65.  
  3. ^ a b c d "Entrez Gene: SMN1 survival of motor neuron 1, telomeric". 
  4. ^ Martin, R. Gupta K, Ninan N S, Perry K, Van Duyne G D (August 2012). "The survival motor neuron protein forms soluble glycine zipper oligomers". Structure 20 (11): 1929–39.  
  5. ^ 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.  
  6. ^ Hebert MD, Shpargel Karl B, Ospina Jason K, Tucker Karen E, Matera A Gregory (September 2002). "Coilin methylation regulates nuclear body formation". Dev. Cell 3 (3): 329–37.  
  7. ^ Hebert MD, Szymczyk P W, Shpargel K B, Matera A G (October 2001). "Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein". Genes Dev. 15 (20): 2720–9.  
  8. ^ a b c Carnegie GK, Sleeman Judith E, Morrice Nick, Hastie C James, Peggie Mark W, Philp Amanda, Lamond Angus I, Cohen Patricia T W (May 2003). "Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs". J. Cell. Sci. 116 (Pt 10): 1905–13.  
  9. ^ 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". Hum. Mol. Genet. 9 (13): 1977–86.  
  10. ^ Mourelatos Z, Dostie Josée, Paushkin Sergey, Sharma Anup, Charroux Bernard, Abel Linda, Rappsilber Juri, Mann Matthias, Dreyfuss Gideon (March 2002). "miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs". Genes Dev. 16 (6): 720–8.  
  11. ^ Charroux B, Pellizzoni L, Perkinson R A, Shevchenko A, Mann M, Dreyfuss G (Dec 1999). "Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems". J. Cell Biol. 147 (6): 1181–94.  
  12. ^ 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". J. Cell Biol. 152 (1): 75–85.  
  13. ^ 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". Curr. Biol. 11 (14): 1079–88.  
  14. ^ Williams BY, Hamilton S L, Sarkar H K (March 2000). "The survival motor neuron protein interacts with the transactivator FUSE binding protein from human fetal brain". FEBS Lett. 470 (2): 207–10.  
  15. ^ 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.  
  16. ^ Gubitz AK, Mourelatos Zissimos, Abel Linda, Rappsilber Juri, Mann Matthias, Dreyfuss Gideon (February 2002). "Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins". J. Biol. Chem. 277 (7): 5631–6.  
  17. ^ Baccon J, Pellizzoni Livio, Rappsilber Juri, Mann Matthias, Dreyfuss Gideon (August 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". J. Biol. Chem. 277 (35): 31957–62.  
  18. ^ Pellizzoni L, Baccon Jennifer, Rappsilber Juri, Mann Matthias, Dreyfuss Gideon (March 2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". J. Biol. Chem. 277 (9): 7540–5.  
  19. ^ Mourelatos Z, Abel L, Yong J, Kataoka N, Dreyfuss G (October 2001). "SMN interacts with a novel family of hnRNP and spliceosomal proteins". EMBO J. 20 (19): 5443–52.  
  20. ^ Rossoll W, Kröning Ann-Kathrin, Ohndorf Uta-Maria, Steegborn Clemens, Jablonka Sibylle, Sendtner Michael (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?". Hum. Mol. Genet. 11 (1): 93–105.  
  21. ^ Narayanan U, Ospina Jason K, Frey Mark R, Hebert Michael D, Matera A Gregory (July 2002). "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta". Hum. Mol. Genet. 11 (15): 1785–95.  
  22. ^ Young PJ, Day Patricia M, Zhou Jianhua, Androphy Elliot J, Morris Glenn E, Lorson Christian L (January 2002). "A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy". J. Biol. Chem. 277 (4): 2852–9.  
  23. ^ 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)". J. Biol. Chem. 275 (34): 26370–5.  

Further reading

  • Hausmanowa-Petrusewicz I, Jedrzejowska M (2002). "Spinal muscular atrophy of childhood at the edge of the centuries.". Funct. Neurol. 16 (4 Suppl): 247–53.  
  • Paushkin S, Gubitz AK, Massenet S, Dreyfuss G (2002). "The SMN complex, an assemblyosome of ribonucleoproteins.". Curr. Opin. Cell Biol. 14 (3): 305–12.  
  • van der Steege G, Draaijers TG, Grootscholten PM, et al. (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region.". Eur. J. Hum. Genet. 3 (2): 87–95.  
  • Bussaglia E, Clermont O, Tizzano E, et al. (1995). "A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.". Nat. Genet. 11 (3): 335–7.  
  • Gennarelli M, Lucarelli M, Capon F, et al. (1995). "Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.". Biochem. Biophys. Res. Commun. 213 (1): 342–8.  
  • Liu Q, Dreyfuss G (1996). "A novel nuclear structure containing the survival of motor neurons protein.". EMBO J. 15 (14): 3555–65.  
  • van der Steege G, Grootscholten PM, Cobben JM, et al. (1996). "Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.". Am. J. Hum. Genet. 59 (4): 834–8.  
  • Bürglen L, Lefebvre S, Clermont O, et al. (1997). "Structure and organization of the human survival motor neurone (SMN) gene.". Genomics 32 (3): 479–82.  
  • Parsons DW, McAndrew PE, Monani UR, et al. (1997). "An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.". Hum. Mol. Genet. 5 (11): 1727–32.  
  • Talbot K, Ponting CP, Theodosiou AM, et al. (1997). "Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?". Hum. Mol. Genet. 6 (3): 497–500.  
  • Hahnen E, Schönling J, Rudnik-Schöneborn S, et al. (1997). "Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).". Hum. Mol. Genet. 6 (5): 821–5.  
  • Coovert DD, Le TT, McAndrew PE, et al. (1997). "The survival motor neuron protein in spinal muscular atrophy.". Hum. Mol. Genet. 6 (8): 1205–14.  
  • Battaglia G, Princivalle A, Forti F, et al. (1998). "Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system.". Hum. Mol. Genet. 6 (11): 1961–71.  
  • Liu Q, Fischer U, Wang F, Dreyfuss G (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.  
  • Iwahashi H, Eguchi Y, Yasuhara N, et al. (1997). "Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy.". Nature 390 (6658): 413–7.  
  • Chen Q, Baird SD, Mahadevan M, et al. (1998). "Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.". Genomics 48 (1): 121–7.  
  • Francis JW, Sandrock AW, Bhide PG, et al. (1998). "Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues.". Proc. Natl. Acad. Sci. U.S.A. 95 (11): 6492–7.  
  • Gambardella A, Mazzei R, Toscano A, et al. (1998). "Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.". Ann. Neurol. 44 (5): 836–9.  
  • Parsons DW, McAndrew PE, Iannaccone ST, et al. (1999). "Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.". Am. J. Hum. Genet. 63 (6): 1712–23.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Spinal Muscular Atrophy including Arthrogryposis Multiplex Congenita-Spinal Muscular Atrophy (AMC-SMA); Spinal Muscular Atrophy I (Werdnig-Hoffmann Disease, SMA1); Spinal Muscular Atrophy II (SMA II); Spinal Muscular Atrophy III (Kugelberg-Welander Disease, SMA III); Spinal Muscular Atrophy IV (SMA IV)

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