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Human SMN1 protein

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Human SMN1 protein
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$398.00
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Human SMN1 protein

Description
Recombinant protein from the full-length sequence of homo sapiens survival of motor neuron 1, telomeric (SMN1), transcript variant b (NM_022874), with a His tag.
Host
Human cells
Source
RefSeq Link
NM_022874; NP_075012; UniProt#: Q16637; GeneID: 6606;
Synonyms
BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A
Molecular Weight
28.4 kDa
Purity
>90% by SDS-PAGE gel and Coomassie Blue staining
Applications
Antigens, Western, ELISA and other in vitro binding or in vivo functional assays, and protein-protein interaction studies; For research & development use only!
Formulation
Purified protein formulated in a sterile solution of PBS buffer, pH7.2, without any preservatives
Endotoxin
Endotoxin level is < 0.1 ng/µg of protein (<1EU /µg)
Background
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].

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