Member database | CDD |
CDD type | domain |
Short name | Tudor_SMN |
Set | Tudor_SF |
Description
References
1.The SMN complex, an assemblyosome of ribonucleoproteins. Paushkin S, Gubitz AK, Massenet S, Dreyfuss G. Curr Opin Cell Biol 14, 305-12, (2002). PMID: 12067652
2.Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B. Biochem Biophys Res Commun 213, 342-8, (1995). PMID: 7639755
3.An SMN-dependent U12 splicing event essential for motor circuit function. Lotti F, Imlach WL, Saieva L, Beck ES, Hao le T, Li DK, Jiao W, Mentis GZ, Beattie CE, McCabe BD, Pellizzoni L. Cell 151, 440-54, (2012). PMID: 23063131
4.SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination. Zhao DY, Gish G, Braunschweig U, Li Y, Ni Z, Schmitges FW, Zhong G, Liu K, Li W, Moffat J, Vedadi M, Min J, Pawson TJ, Blencowe BJ, Greenblatt JF. Nature 529, 48-53, (2016). PMID: 26700805
5.Structure and organization of the human survival motor neurone (SMN) gene. Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Genomics 32, 479-82, (1996). PMID: 8838816
6.The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Liu Q, Fischer U, Wang F, Dreyfuss G. Cell 90, 1013-21, (1997). View articlePMID: 9323129
7.Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. Wang CH, Papendick BD, Bruinsma P, Day JK. Neurogenetics 1, 273-6, (1998). PMID: 10732802
8.SMN tudor domain structure and its interaction with the Sm proteins. Selenko P, Sprangers R, Stier G, Buhler D, Fischer U, Sattler M. Nat. Struct. Biol. 8, 27-31, (2001). View articlePMID: 11135666
9.Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing. Pillai RS, Grimmler M, Meister G, Will CL, Luhrmann R, Fischer U, Schumperli D. Genes Dev. 17, 2321-33, (2003). View articlePMID: 12975319
10.Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. Tripsianes K, Madl T, Machyna M, Fessas D, Englbrecht C, Fischer U, Neugebauer KM, Sattler M. Nat. Struct. Mol. Biol. 18, 1414-20, (2011). PMID: 22101937
11.Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE. Genomics 48, 121-7, (1998). PMID: 9503025
12.Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Cusco I, Barcelo MJ, del Rio E, Baiget M, Tizzano EF. Neurology 63, 146-9, (2004). PMID: 15249625
13.Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B. Hum Mol Genet 6, 821-5, (1997). PMID: 9158159
14.A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G. Cell 95, 615-24, (1998). PMID: 9845364
15.Tudor domains bind symmetrical dimethylated arginines. Cote J, Richard S. J. Biol. Chem. 280, 28476-83, (2005). View articlePMID: 15955813
16.Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. Hua Y, Zhou J. Biochem Biophys Res Commun 314, 268-76, (2004). PMID: 14715275
17.Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Monani UR. Neuron 48, 885-96, (2005). PMID: 16364894
18.SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. Narayanan U, Ospina JK, Frey MR, Hebert MD, Matera AG. Hum Mol Genet 11, 1785-95, (2002). PMID: 12095920
19.A novel nuclear structure containing the survival of motor neurons protein. Liu Q, Dreyfuss G. EMBO J 15, 3555-65, (1996). PMID: 8670859
20.An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. Chari A, Golas MM, Klingenhager M, Neuenkirchen N, Sander B, Englbrecht C, Sickmann A, Stark H, Fischer U. Cell 135, 497-509, (2008). View articlePMID: 18984161
21.Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. Hebert MD, Szymczyk PW, Shpargel KB, Matera AG. Genes Dev 15, 2720-9, (2001). PMID: 11641277
22.The survival motor neuron protein in spinal muscular atrophy. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH. Hum Mol Genet 6, 1205-14, (1997). PMID: 9259265
23.Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein. Gangwani L, Mikrut M, Theroux S, Sharma M, Davis RJ. Nat Cell Biol 3, 376-83, (2001). PMID: 11283611
24.SMN interacts with a novel family of hnRNP and spliceosomal proteins. Mourelatos Z, Abel L, Yong J, Kataoka N, Dreyfuss G. EMBO J. 20, 5443-52, (2001). View articlePMID: 11574476
25.SMN gene deletions in adult-onset spinal muscular atrophy. Clermont O, Burlet P, Lefebvre S, Burglen L, Munnich A, Melki J. Lancet 346, 1712-3, (1995). PMID: 8551862
26.Identification and characterization of a spinal muscular atrophy-determining gene. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M. Cell 80, 155-65, (1995). PMID: 7813012
27.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? Talbot K, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE. Hum Mol Genet 6, 497-500, (1997). PMID: 9147655
28.The SMN complex: an assembly machine for RNPs. Battle DJ, Kasim M, Yong J, Lotti F, Lau CK, Mouaikel J, Zhang Z, Han K, Wan L, Dreyfuss G. Cold Spring Harb Symp Quant Biol 71, 313-20, (2006). PMID: 17381311
29.WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. Mahmoudi S, Henriksson S, Weibrecht I, Smith S, Soderberg O, Stromblad S, Wiman KG, Farnebo M. PLoS Biol 8, e1000521, (2010). PMID: 21072240
30.Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Rochette CF, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AH, Vanasse M, Simard LR. Neurogenetics 1, 141-7, (1997). PMID: 10732817
31.Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Am J Hum Genet 63, 1712-23, (1998). PMID: 9837824
32.Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. J. Biol. Chem. 277, 31957-62, (2002). View articlePMID: 12065586
33.Tudor domains in proteins that interact with RNA. Ponting CP. Trends Biochem. Sci. 22, 51-2, (1997). View articlePMID: 9048482
34.Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B. Hum Mutat 25, 64-71, (2005). PMID: 15580564
35.High-resolution X-ray and NMR structures of the SMN Tudor domain: conformational variation in the binding site for symmetrically dimethylated arginine residues. Sprangers R, Groves MR, Sinning I, Sattler M. J. Mol. Biol. 327, 507-20, (2003). View articlePMID: 12628254