Survival motor neuron protein (SMN1) Recombinant Protein | SMN1 recombinant protein

Recombinant Dog Survival motor neuron protein (SMN1)

Cat. Num. AAA1155820

• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Survival motor neuron protein (SMN1); Recombinant Dog Survival motor neuron protein (SMN1); SMN1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-287, Full length protein
• Sequence: MGGGGGLPEPEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDISEASDKPKSTPKRKPAKKNKSQKKNATTALKQWKVGDKCSAVWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNVSDLLSPACEVANNVEQDTQENENESQISTDESENSSRSPGNKPNNIKSKAAPWNSFLPPPPPMSGSGLGPGKPGVKFSGPPPPPPPPHFLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFKQNQKEGRCSHFN
• Sequence Length: 287

• Species: Canis familiaris (Dog) (Canis lupus familiaris)
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for SMN1 recombinant protein

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. This protein 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.

NCBI and Uniprot Product Information

• NCBI GI #: 50979004
• NCBI GeneID: 403896
• NCBI Accession #: NP_001003226.1
• NCBI GenBank Nucleotide #: NM_001003226.2
• UniProt Accession #: O02771
• Molecular Weight: 31,010 Da
• NCBI Official Full Name: survival motor neuron protein
• NCBI Official Symbol: SMN
• NCBI Protein Information: survival motor neuron protein
• UniProt Protein Name: Survival motor neuron protein
• Protein Family: Survival motor neuron protein
• UniProt Gene Name: SMN1
• UniProt Synonym Gene Names: SMN

Uniprot Description

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).