Recombinant Full Length Human SMN1 Protein

• Cat.No.: SMN1-506HF
• Product Overview: Recombinant full length Human Gemin 1, Isoform SMN-delta7 with N terminal proprietary tag, 56.76 kDa.

Specification

• Species: Human
• Source: In Vitro Cell Free System
• ProteinLength: 282 amino acids
• Description: 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. Two transcript variants encoding distinct isoforms have been described.
• Form: Liquid
• Molecular Mass: 56.760kDa inclusive of tags
• AA Sequence: MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALI KAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPM PGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMEM LA
• Purity: Proprietary Purification
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles.
• Storage Buffer: pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione.

Gene Information

• Gene Name: SMN1 survival of motor neuron 1, telomeric [ Homo sapiens ]
• Official Symbol: SMN1
• Synonyms: SMN1; survival of motor neuron 1, telomeric; SMA, SMA@, spinal muscular atrophy (Werdnig Hoffmann disease, Kugelberg Welander disease); survival motor neuron protein; BCD541; SMA1; SMA2; SMA3; SMNT
• Gene ID: 6606
• mRNA Refseq: NM_000344
• Protein Refseq: NP_000335
• MIM: 600354
• UniProt ID: Q16637