SMN1 (NM_000344) Human Recombinant Protein

CAT#: TP321367

Recombinant protein of human survival of motor neuron 1, telomeric (SMN1), transcript variant d

Product Images

Coomassie blue staining of purified SMN1 protein (Cat# TP321367). The protein was produced from HEK293T cells transfected with SMN1 cDNA clone (Cat# RC221367) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Species: Human
• Expression Host: HEK293T
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Recombinant protein was produced with TrueORF clone, RC221367. Click on the TrueORF clone link to view cDNA and protein sequences.
• Tag: C-Myc/DDK
• Predicted MW: 31.7 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
• 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.

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 Families: Druggable Genome, Stem cell - Pluripotency