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Survival Motor Neuron Protein (SMN)

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BCD541; SMA1; SMN1; SMA2; SMA3; SMA4; SMNT; T-BCD541; SMNC; Gemin-1; Survival Of Motor Neuron 1, Telomeric; Component of gems 1; Spinal Muscular Atrophy(Werdnig-Hoffmann Disease,Kugelberg-Welander Dis

Survival Motor Neuron Protein (SMN)
CCC C256
HGNC 11117
MGI 109257
PubMed 15580564
RGD 620755
UniProt Q16637
Wiki SMN1

Survival motor neuron protein is a 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. Two transcript variants are produced by this gene.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. .

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC256Hu01 Recombinant Survival Motor Neuron Protein (SMN) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC256Hu01 Polyclonal Antibody to Survival Motor Neuron Protein (SMN) WB;ICC/IF
Assay Kits n/a CLIA Kit for Survival Motor Neuron Protein (SMN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Survival Motor Neuron Protein (SMN) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Survival Motor Neuron Protein (SMN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Survival Motor Neuron Protein (SMN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Survival Motor Neuron Protein (SMN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Survival Motor Neuron Protein (SMN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Survival Motor Neuron Protein (SMN) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Survival Motor Neuron Protein (SMN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Survival Motor Neuron Protein (SMN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Survival Motor Neuron Protein (SMN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Survival Motor Neuron Protein (SMN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Survival Motor Neuron Protein (SMN) ELISA Kit Customized Service Offer
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  2. "Structure and organization of the human survival motor neurone (SMN) gene."Genomics 32:479-482(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP."Genomics 48:121-127(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients."Biochem. Biophys. Res. Commun. 213:342-348(1995) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence and comparative analysis of human chromosome 5." Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "A provisional transcript map of the spinal muscular atrophy (SMA) critical region."Eur. J. Hum. Genet. 3:87-95(1995) [PubMed] [Europe PMC] [Abstract]
  9. "A novel nuclear structure containing the survival of motor neurons protein."EMBO J. 15:3555-3565(1996) [PubMed] [Europe PMC] [Abstract]
  10. "The survival motor neuron protein in spinal muscular atrophy."Hum. Mol. Genet. 6:1205-1214(1997) [PubMed] [Europe PMC] [Abstract]
  11. "The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins."Cell 90:1013-1021(1997) [PubMed] [Europe PMC] [Abstract]
  12. "A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing."Cell 95:615-624(1998) [PubMed] [Europe PMC] [Abstract]
  13. "SMN interacts with a novel family of hnRNP and spliceosomal proteins."EMBO J. 20:5443-5452(2001) [PubMed] [Europe PMC] [Abstract]
  14. "Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein."Genes Dev. 15:2720-2729(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation."J. Biol. Chem. 276:41035-41039(2001) [PubMed] [Europe PMC] [Abstract]
  16. "Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein."Nat. Cell Biol. 3:376-383(2001) [PubMed] [Europe PMC] [Abstract]
  17. "The SMN complex, an assemblyosome of ribonucleoproteins."Curr. Opin. Cell Biol. 14:305-312(2002) [PubMed] [Europe PMC] [Abstract]
  18. "SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta."Hum. Mol. Genet. 11:1785-1795(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex."J. Biol. Chem. 277:31957-31962(2002) [PubMed] [Europe PMC] [Abstract]
  20. "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."Genes Dev. 17:2321-2333(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress."Biochem. Biophys. Res. Commun. 314:268-276(2004) [PubMed] [Europe PMC] [Abstract]
  22. "Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes."J. Biol. Chem. 280:34435-34440(2005) [PubMed] [Europe PMC] [Abstract]
  23. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  24. "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."Electrophoresis 28:2027-2034(2007) [PubMed] [Europe PMC] [Abstract]
  25. "An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs."Cell 135:497-509(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  27. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  28. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  29. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  30. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  31. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  32. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  33. "Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A."Biochim. Biophys. Acta 1814:1134-1139(2011) [PubMed] [Europe PMC] [Abstract]
  34. "Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination."Mol. Cell 42:794-805(2011) [PubMed] [Europe PMC] [Abstract]
  35. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  36. "An SMN-dependent U12 splicing event essential for motor circuit function."Cell 151:440-454(2012) [PubMed] [Europe PMC] [Abstract]
  37. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  38. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  39. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  40. "SMN tudor domain structure and its interaction with the Sm proteins."Nat. Struct. Biol. 8:27-31(2001) [PubMed] [Europe PMC] [Abstract]
  41. "Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins."Nat. Struct. Mol. Biol. 18:1414-1420(2011) [PubMed] [Europe PMC] [Abstract]
  42. "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. 6:497-500(1997) [PubMed] [Europe PMC] [Abstract]
  43. "Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)."Hum. Mol. Genet. 6:821-825(1997) [PubMed] [Europe PMC] [Abstract]
  44. "Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7."Neurogenetics 1:141-147(1997) [PubMed] [Europe PMC] [Abstract]
  45. "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. 63:1712-1723(1998) [PubMed] [Europe PMC] [Abstract]
  46. "Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy."Neurogenetics 1:273-276(1998) [PubMed] [Europe PMC] [Abstract]
  47. "Detection of novel mutations in the SMN Tudor domain in type I SMA patients."Neurology 63:146-149(2004) [PubMed] [Europe PMC] [Abstract]
  48. "Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy."Hum. Mutat. 25:64-71(2005) [PubMed] [Europe PMC] [Abstract]