SMN1, Polyclonal Antibody

Survival motor neuron protein; Component of gems 1; Gemin-1; SMN1; SMN; SMNT

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This SMN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-288 amino acids from the C-terminal region of human SMN1.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.45 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-SMN1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Neuroscience; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

SMN1 Antibody (C-term) western blot analysis in 293 cell line lysates (35ug/lane).This demonstrates the SMN1 antibody detected the SMN1 protein (arrow).

31849

survival of motor neuron 1, telomeric

survival motor neuron protein

Survival motor neuron protein

SMN; SMNT  [Similar Products]

SMN_HUMAN

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]

SMN: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1). Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2). SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into *****hood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3). SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into *****hood. Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4). SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in *****hood and slow disease progression. SMA4 patients can stand and walk. Belongs to the SMN family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding; RNA processing

Chromosomal Location of Human Ortholog: 5q13.2

Cellular Component: nucleoplasm; Cajal body; spliceosome; cytoplasm; SMN complex; Z disc; nucleus; cytosol

Molecular Function: identical protein binding; protein binding; RNA binding

Biological Process: nervous system development; spliceosomal snRNP biogenesis; spliceosome assembly; gene expression

Disease: Spinal Muscular Atrophy, Type Ii; Spinal Muscular Atrophy, Type Iii; Spinal Muscular Atrophy, Type Iv; Spinal Muscular Atrophy, Type I

Todd, A.G., et al. J. Mol. Biol. 401(5):681-689(2010)
Sheng-Yuan, Z., et al. Eur. J. Hum. Genet. 18(9):978-984(2010)
Liu, W.L., et al. Zhongguo Dang Dai Er Ke Za Zhi 12(7):539-543(2010)
Wang, C.C., et al. Anal Bioanal Chem 397(6):2375-2383(2010)
Bebee, T.W., et al. Front. Biosci. 15, 1191-1204 (2010) :

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