SMN1 (NM_000344) Human Recombinant Protein
SKU
TP321367
Recombinant protein of human survival of motor neuron 1, telomeric (SMN1), transcript variant d, 20 µg
$867.00
In Stock*
Specifications
| Product Data | |
| Species | Human |
|---|---|
| Expression Host | HEK293 |
| Expression cDNA Clone or AA Sequence | |
| Tag | C-Myc/DDK |
| Predicted MW | 31.7 kDa |
| Concentration | >0.05 µg/µL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 25 mM Tris-HCl, 100 mM glycine, pH 7.3, 10% glycerol |
| Preparation | Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. |
| Note | For testing in cell culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process. |
| Storage | Store at -80°C. |
| Stability | Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. |
| Shipping | Dry Ice |
| Reference Data | |
| RefSeq | NP_000335 |
| Locus ID | 6606 |
| UniProt ID | Q16637 |
| Cytogenetics | 5q13.2 |
| RefSeq Size | 1641 |
| RefSeq ORF | 882 |
| Synonyms | BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A |
| Summary | 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. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. 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. Multiple transcript variants encoding distinct isoforms have been described. provided by RefSeq, Jul 2014 |
| Protein Categories | Intracellular Proteins, Nervous system: Neurodegenerative diseases |
| Protein Families | Druggable Genome, Stem cell - Pluripotency |
Reviews
Documents
| FAQs |
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Resources
| Recombinant Protein Resources |
Other "SMN1" proteins (7)
| SKU | Description | Size | Price | |
|---|---|---|---|---|
| PH321108 | SMN1 MS Standard C13 and N15-labeled recombinant protein (NP_075012) | 10 ug |
$3,360.00
|
|
| PH321367 | SMN1 MS Standard C13 and N15-labeled recombinant protein (NP_000335) | 10 ug |
$3,360.00
|
|
| LC411525 | Lyophilized SMN1 HEK293T cell transient overexpression lysate (as WB positive control) | 20 ug |
$206.00
|
|
| LC424781 | Lyophilized SMN1 HEK293T cell transient overexpression lysate (as WB positive control) | 20 ug |
$206.00
|
|
| LY411525 | Transient overexpression lysate of survival of motor neuron 1, telomeric (SMN1), transcript variant b (as WB positive control) | 100 ug |
$436.00
|
|
| LY424781 | Transient overexpression lysate of survival of motor neuron 1, telomeric (SMN1), transcript variant d (as WB positive control) | 100 ug |
$436.00
|
|
| TP321108 | Recombinant protein of human survival of motor neuron 1, telomeric (SMN1), transcript variant b, 20 µg | 20 ug |
$867.00
|
|
Citations
Optimizing in vitro efficacy assessment of the antisense oligonucleotide nusinersen in human cellular models
Tisnikar, Zottel, Kristan et al
Pharmaceutics (2026) 18 (6) DOI: 10.3390/pharmaceutics18060652
Tisnikar, Zottel, Kristan et al
Pharmaceutics (2026) 18 (6) DOI: 10.3390/pharmaceutics18060652
Cited by 1
AI Summary: OriGene products, specifically the SMN human recombinant protein (cat. TP321367) and SMN human over-expression lysate from HEK293T cells, were used as controls in protein detection assays to assess nusinersen efficacy in human cellular models.
Snippet: nals, according to the manufacturer’s instructions, using a Fujifilm LAS4000 digital imaging system (Fujifilm;Tokyo, Japan). HepG2 cell lysate (prepared in our lab), SMN human recombinant protein (Origene (Rockville, MD, USA), cat. TP321367), and SMN human over-expression lysate from HEK293T cells (Origene, cat
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
Groen, Fumoto, Blokhuis et al
Hum. Mol. Genet. (2013) 22 (18), 3690-704 DOI: 10.1093/hmg/ddt222
Groen, Fumoto, Blokhuis et al
Hum. Mol. Genet. (2013) 22 (18), 3690-704 DOI: 10.1093/hmg/ddt222
Cited by 155
AI Summary: OriGene products contributed to this study by providing the SMN expression plasmid (OriGene, Cat# RC200446), which was used for SMN overexpression experiments to assess the rescue of axonal defects caused by mutant FUS in neurons.
Snippet: 7 Swammerdam Institute for Life Sciences, Center for Neuroscience, University of Amsterdam, Amsterdam, The Netherlands. ↵*To whom correspondence should be addressed at: Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience
Showing 1-2 of 2 papers.
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