SMN1 / SMN2 (Transcript Variant D) protein (Myc-DYKDDDDK Tag)
(1 reference)-
- Target
- SMN1 / SMN2
- Protein Type
- Recombinant
- Protein Characteristics
- Transcript Variant D
- Origin
- Human
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Source
- HEK-293 Cells
- Purification tag / Conjugate
- Myc-DYKDDDDK Tag
- Application
- Antibody Production (AbP), Standard (STD)
- Characteristics
-
- Recombinant human SMN1 / SMN2 (transcript variant d) protein expressed in HEK293 cells.
- Produced with end-sequenced ORF clone
- Purity
- > 80 % as determined by SDS-PAGE and Coomassie blue staining
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SMN1 / SMN2 (AA 2-294) protein (His tag)
Crystallography grade Origin: Human Host: Insect Cells Recombinant >95 % as determined by SDS PAGE, Size Exclusion Chromatography and Western Blot. Crys, ELISA, SDS, WB
SMN1 / SMN2 (Transcript Variant B) protein (Myc-DYKDDDDK Tag)Origin: Human Host: HEK-293 Cells Recombinant > 80 % as determined by SDS-PAGE and Coomassie blue staining AbP, STD
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- Application Notes
-
Recombinant human proteins can be used for:
Native antigens for optimized antibody production
Positive controls in ELISA and other antibody assays - Comment
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The tag is located at the C-terminal.
- Restrictions
- For Research Use only
-
- Concentration
- 50 μg/mL
- Buffer
- 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10 % glycerol.
- Storage
- -80 °C
- Storage Comment
- Store at -80°C. Thaw on ice, aliquot to individual single-use tubes, and then re-freeze immediately. Only 2-3 freeze thaw cycles are recommended.
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-
: "ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN." in: Human molecular genetics, Vol. 22, Issue 18, pp. 3690-704, (2013) (PubMed).
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: "ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN." in: Human molecular genetics, Vol. 22, Issue 18, pp. 3690-704, (2013) (PubMed).
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- Target
- SMN1 / SMN2
- Alternative Name
- Smn1,smn2
- Background
- 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.
- Molecular Weight
- 31.7 kDa
- NCBI Accession
- NP_000335
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