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Recombinant Human SMN1

Cat.No.: SMN1-29016TH
Product Overview: Recombinant full length Human Gemin 1, Isoform SMN-delta7 with N terminal proprietary tag, 56.76 kDa.
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.
Protein length: 282 amino acids
Molecular Weight: 56.760kDa inclusive of tags
Source: Wheat germ
Tissue specificity: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and
Form: Liquid
Purity: Proprietary Purification
Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids: MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALI KAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKS QKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPM PGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMEM LA
Sequence Similarities: Belongs to the SMN family.Contains 1 Tudor domain.
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
Chromosome Location: 5q13.2
Pathway: Metabolism, organism-specific biosystem; Metabolism of RNA, organism-specific biosystem; Metabolism of non-coding RNA, organism-specific biosystem; RNA transport, organism-specific biosystem; RNA transport, conserved biosystem;

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