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Home cDNA Clone TrueORF All SMN1 ORF Clones
TrueORF Gold

SMN1 (NM_000344) Human cDNA ORF Clone

Specifications Citations Clones of Other Species Product Documents
Cat. No. Description Price Availability  
RC221367 SMN1 (Myc-DDK-tagged)-Human survival of motor neuron 1, telomeric (SMN1), transcript variant d, 10µg
$460
In Stock
RC521367 SMN1 (Myc-DDK-tagged)-Human survival of motor neuron 1, telomeric (SMN1), transcript variant d, (200ug) $580 2~3 weeks
TA50011-100 4C5, Anti-DDK monoclonal antibody, 100µl $248 In Stock
Clone Modification

The same insert cloned in Lenti and other vectors is also available.

Cat. No. Description Vector Price Availability  
RC221367L2 Lenti ORF clone of Human survival of motor neuron 1, telomeric (SMN1), transcript variant d, mGFP tagged

910 3 Weeks
TR30022 Lenti-vpak packaging kit - packaging plasmids and transfection reagent (10 rxns) Lenti-vpak-app-guide $390 In Stock
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Also for SMN1 (NM_000344)
cDNA Clone shRNA/siRNA Lysate Protein Antibody
TrueORF Data for RC221367
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Vector: pCMV6-Entry   Change vector? Tag: C-terminal Myc-DDK
Western validation with an anti-DDK antibody *
L: Control HEK293 lysate
R: Over-expression lysate
Lysate_Image
Sequence Data: ORF Nucleotide Sequence
Protein Sequence
ORF Size: 885 bp
Predicted Protein MW: 31.7 kDa
Restriction Sites: SgfI-MluI     Cloning Scheme for this gene     Plasmid Map Plasmid Map
OTI Annotation: This clone was engineered to express the complete ORF with an expression tag.
OTI Disclaimer: The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
Product Components: The ORF clone is ion-exchange column purified, transfection-ready dried plasmid DNA, and shipped with 2 vector sequencing primers.
Protein Families: Stem cell - PluripotencyDruggable Genome
* The lysates used for this WB picture contain the overexpressed empty vector or the Myc-DDK tagged ORF clone.

Reference Data
RefSeq: NM_000344.2, NP_000335
RefSeq Size: 1621 RefSeq ORF: 885
Synonyms : BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A
LocusID: 6606 Cytogenetic: 5q13.2
Summary: 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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