SMN1

survival of motor neuron 1, telomeric

SMN1 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.

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Products

Proteins (11)

Type

Over-Expression Lysate (5)

Recombinant (6)

Target

SMN1 (11)

Publications

No (11)

Tag

10His, N-terminus + Myc, C-terminus (2)

His-T7 (2)

Myc-DDK (Flag) (7)

Species

Human (6)

Mouse (2)

Source

293T Cells (2)

Baculovirus (1)

E. coli (2)

HEK 293 Cells (5)

Mammalian Cells (1)

Purification

Purified (2)

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Human SMN1 Protein (Recombinant His-T7) (aa2-294) - LS-G24718

Source:

E. coli

Tag:

His-T7

Molecular Weight:

35.4 kDa

Price:

10 µg/$279; 50 µg/$432; 100 µg/$690; 200 µg/$862; 1 mg/$1,962; 500 µg/$1,505; 5 mg/$3,011; 2 mg/$2,148

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Human SMN1 Protein (Recombinant His-T7) (aa16-251) - LS-G25308

Source:

E. coli

Tag:

His-T7

Molecular Weight:

29.3 kDa

Price:

10 µg/$278; 50 µg/$422; 100 µg/$672; 200 µg/$842; 1 mg/$1,934; 500 µg/$1,480; 5 mg/$2,941; 2 mg/$2,119

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Mouse SMN1 Protein (Recombinant 10His, N-terminus + Myc, C-terminus) (aa1-288) - LS-G57059

Source:

Mammalian Cells

Tag:

10His, N-terminus + Myc, C-terminus

Price:

100 µg/$1,116; 20 µg/$461; 1 mg/$3,921

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Human SMN1 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G78999

Source:

293T Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

31.7 kDa

Price:

20 µg/$150

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Human SMN1 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G79001

Source:

293T Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

20 µg/$150

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Human SMN1 Protein (Recombinant Myc-DDK (Flag)) (Full Length) - LS-G67046

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

20 µg/$1,107

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Human SMN1 Protein (Recombinant Myc-DDK (Flag)) (Full Length) - LS-G67047

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

31.7 kDa

Price:

20 µg/$1,107

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SMN1 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G110149

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

100 µg/$494

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SMN1 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G110212

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

100 µg/$494

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SMN1 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G123251

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

31.7 kDa

Price:

100 µg/$494

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Mouse SMN1 Protein (Recombinant 10His, N-terminus + Myc, C-terminus) (Full Length) - LS-G136852

Source:

Baculovirus

Tag:

10His, N-terminus + Myc, C-terminus

Molecular Weight:

35.3 kDa

Price:

100 µg/$1,164; 20 µg/$475; 1 mg/$2,187

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