SMN1 recombinant protein

SMN1 (human), (recombinant) (His-tag)

Cat. Num. AAA565905

• Gene Names: SMN1; SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• Applications: Western Blot
• Purity: >=90% (SDS-PAGE); Purified by multi-step chromatography
• Synonyms: SMN1; SMN1 (human); (recombinant) (His-tag); SMN1 recombinant protein

• Host: E Coli
• Purity/Purification: >=90% (SDS-PAGE); Purified by multi-step chromatography
• Form/Format: Liquid. In 20mM sodium phosphate, pH7.4, containing 300mM sodium chloride

• Applicable Applications for SMN1 recombinant protein: Western Blot (WB)
• Tag: The N-terminus is fused with a His tag
• Preparation and Storage: For long term storage, store at -80 degree C; Shipping: Shipped on Dry Ice

Related Product Information for SMN1 recombinant protein

Survival Motor Neuron (SMN) is a ~38 kDa protein produced chiefly by the SMN1 gene, located on the telomeric portion of chromosome 5q. A nearly identical centromeric copy of the gene (SMN2) also produces a small amount of full-length SMN protein, but due to a translationally silent C(R)T transition that results in alternative splicing of the pre-mRNA, most of the resulting SMN is truncated, causing reduced protein stability and lower overall SMN levels. Deletion or mutation of the SMN1 gene results in a reduced level of full-length SMN protein and manifests as a range of neuromuscular phenotypes in humans as the disease spinal muscular atrophy (SMA). SMA is characterized by muscle weakness and atrophy, functional disability and is the most common lethal genetic disease of infants and toddlers. Approximately one in 35 adults is a carrier of the SMN1 mutation. The incidence of SMA is 1 in 6,000 to 1 in 10,000 live births. SMN protein is present in the cell cytoplasm, and also in the nucleus where it is concentrated in "gem" structures associated with Cajal bodies. SMN protein is a constituent of Gemin-containing complexes, and is thought to participate in many aspects of RNA metabolism. SMN complexes have been shown to mediate the assembly of uridine-rich small nuclear ribonucleoproteins (snRNPs), which in turn act as critical components of spliceosomes.

Product Categories/Family for SMN1 recombinant protein

Cellular Analysis; Cell Organelles & Structures

NCBI and Uniprot Product Information

• NCBI GI #: 663070994
• NCBI GeneID: 6606
• NCBI Accession #: NP_001284644.1
• NCBI GenBank Nucleotide #: NM_001297715.1
• UniProt Accession #: Q16637; Q13119; Q549U5; Q96J51; A8K0V4
• Molecular Weight: 31,849 Da
• NCBI Official Full Name: survival motor neuron protein isoform a
• NCBI Official Synonym Full Names: survival of motor neuron 1, telomeric
• NCBI Official Symbol: SMN1
• NCBI Official Synonym Symbols: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• NCBI Protein Information: survival motor neuron protein; gemin-1; component of gems 1; tudor domain containing 16A; survival motor neuron 1 protein
• UniProt Protein Name: Survival motor neuron protein
• Protein Family: Survival motor neuron protein
• UniProt Gene Name: SMN1
• UniProt Synonym Gene Names: SMN; SMNT
• UniProt Entry Name: SMN_HUMAN

NCBI 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. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]

Uniprot Description

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 adulthood. 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 adulthood. 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 adulthood 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; spliceosome; Cajal body; cytoplasm; SMN complex; nucleus; Z disc; 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