SMN1 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.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. However, mutations in this gene, the telomeric copy, 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. The protein encoded by this gene 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. Two transcript variants are produced by this gene.1) Hirano, M., (2008) Arch. Neurol. 65 (3), 403-406.
Immunogen
Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human SMN1.
Key Feature
Clonality
Polyclonal
Host Species
Rabbit
Tested Applications
ELISAWB
SMN1 antibody can be used for detection of SMN1 by ELISA at 1:62500. SMN1 antibody can be used for detection of SMN1 by western blot at 0.5 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
Antibody used in WB on Hum. Fetal Muscle at 1 ug/ml.
Application
Antibody used in WB on Human MCF7 at 1 ug/ml.
Application
Antibody used in WB on Hum. Fetal Brain at 1 ug/ml.
Application
Antibody used in WB on Human HepG2 at 0.2-1 ug/ml.
Positive Control
1) Cat. No. 1211 - HepG2 Cell Lysate
Application Notes
SMN1 antibody can be used for detection of SMN1 by ELISA at 1:62500. SMN1 antibody can be used for detection of SMN1 by western blot at 0.5 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
Additional Information
Form
Liquid
Storage Instructions
For short periods of storage (days) store at 4˚C. For longer periods of storage, store SMN1 antibody at -20˚C. As with any antibody avoid repeat freeze-thaw cycles.
Storage Buffer
Antibody is lyophilized in PBS buffer with 2% sucrose. Add 50 μL of distilled water. Final antibody concentration is 1 mg/mL.