smn1
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  • Official Full Name
  • Survival Motor Neuron 1
  • Background
  • Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full‐length SMN protein, but due to a translationally silent C?T transition that results in alternative splicing of the pre‐mRNA, most of the resulting SMN is truncated, causing reduced protein stability and lower overall SMN levels. Deletion or mutation of the SMN1 gene results in a reduced level of full‐length SMN protein and manifests as a range of neuromuscular phenotypes in humans as the disease spinal muscular atrophy (SMA). SMA is characterized by muscle weakness and atrophy, functional disability and is the most common lethal genetic disease of infants and toddlers. Approximately one in 35 adults is a carrier of the SMN1 mutation. The incidence of SMA is 1 in 6,000 to 1 in 10,000 live births.
    SMN protein is present in the cell cytoplasm, and also in the nucleus where it is concen‐ trated in "gem" structures associated with Cajal bodies8‐9. SMN protein is a constituent of Gemin-containing complexes, and is thought to participate in many aspects of RNA metabolism. SMN complexes have been shown to mediate the assembly of uridine‐rich small nuclear ribonucleoproteins (snRNPs), which in turn act as critical components of spliceosomes.
  • Synonyms
  • SMN1; Survival Motor Neuron 1
Cat.#:SMN1-458HTag:His
Source (Host):E. coliSpecies:Human
Product nameRecombinant Human SMN1 Protein, His-tagged
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Cat.#:SMN1-169HTag:GST
Source (Host):E. coliSpecies:Human
Product nameRecombinant Human SMN1, GST-tagged
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Cat.#:SMN1-2816HTag:GST
Source (Host):E. coliSpecies:Human
Product nameRecombinant Human SMN1, GST-tagged
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Cat.#:SMN1-29016THTag:
Source (Host):Wheat germSpecies:Human
Product nameRecombinant Human SMN1
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Cat.#:SMN1-15629MTag:His
Source (Host):Mammalian CellsSpecies:Mouse
Product nameRecombinant Mouse SMN1 Protein
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Cat.#:SMN1-5621RTag:His
Source (Host):Mammalian CellsSpecies:Rat
Product nameRecombinant Rat SMN1 Protein
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Cat.#:SMN1-947CTag:His
Source (Host):Mammalian CellsSpecies:Cynomolgus Monkey
Product nameRecombinant Cynomolgus SMN1 Protein, His-tagged
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Cat.#:SMN1-4348RTag:His
Source (Host):Mammalian CellsSpecies:Rhesus Macaque
Product nameRecombinant Rhesus monkey SMN1 Protein, His-tagged
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Cat.#:SMN1-8795ZTag:His
Source (Host):Mammalian CellsSpecies:Zebrafish
Product nameRecombinant Zebrafish SMN1
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Cat.#:SMN1-1660HCLTag:
Source (Host):Species:Human
Product nameRecombinant Human SMN1 293 Cell Lysate
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Involved Pathway

SMN1 involved in several pathways and played different roles in them. We selected most pathways SMN1 participated on our site, such as RNA transport, which may be useful for your reference. Also, other proteins which involved in the same pathway with SMN1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name
Pathway Related Protein
RNA transport
NDC1; AAAS; EEF1A1A; PEAK1; PAIP1; NCBP1; EIF4E1B; NUP205; EIF1B; EIF1

Protein Function

SMN1 has several biochemical functions, for example, RNA binding, identical protein binding, protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by SMN1 itself. We selected most functions SMN1 had, and list some proteins which have the same functions with SMN1. You can find most of the proteins on our site.
Function
Related Protein
Function RNA binding
Related Protein WRAP53; RPL28; ILF3B; RNASEL3; RNASEL4; OASL2; SUPV3L1; SURF6; SAMHD1; SRP14
Function identical protein binding
Related Protein UBE4A; TYSND1; NDC80; KCNJ10; ETNPPL; GLUD1; ALDOB; MYBPC3; FBLN1; EID3
Function protein binding
Related Protein HELLS; C17orf59; TGM1; NGFR; PPP2R4; LEPROT; PPP1CC; HELZ; FEM1B; NIF3L1

Interacting Protein

SMN1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with SMN1 here. Most of them are supplied by our site. Hope this information will be useful for your research of SMN1.
GEMIN2

SMN1 Related Articles

Mulcahy, PJ; Iremonger, K; et al. Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy. HUMAN GENE THERAPY 25:575-586(2014).
Jokela, M; Udd, B; et al. Double trouble: Spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. NEUROMUSCULAR DISORDERS 22:129-130(2012).