SMN1
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Official Full Name
Survival Motor Neuron 1 -
Overview
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.<br/>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
Recombinant Proteins
- Human
- Mouse
- Rhesus macaque
- Rat
- Zebrafish
- Cynomolgus
- E.coli
- HEK293
- Mammalian Cells
- Wheat Germ
- Human Cells
- Insect Cells
- In Vitro Cell Free System
- GST
- Non
- His
- Flag
- Avi&Fc&His
- His&Myc
- DDK&Myc
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 | EIF2B5,EIF3C,THOC5,KPNB1,RANGAP1A,EIF5,MAGOH2,NXF2,PABPC1B,SUMO1 |
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 |
|---|---|
| identical protein binding | DACT3,KCNIP2,KCNRG,SRI,KCTD13,ALCAMB,GDF5,PKD2L1,MLL1,PRDX1 |
| protein binding | GSE1,SEPT12,PMAIP1,CROP,NOTCH3,HSPB9,GGN,MYLK,SAP30BP,NLGN4Y |
| RNA binding | ADAD1,OOEP,EIF5A,KHDC3,EXOSC6,EIF4H,QKIA,PABPN1L,SF3B3,RBM44 |
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
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References
- 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).
