Size  100ul
Cat code  220031
Species Cross-reactivity  H
Key Application  WB
Host  Mouse
Clone Number  2F1-D9-F1
Antibody type  Monoclonal antibody
Purified method  
Isotype  IgG1
Molecular Weight  35kDa
Sensitivity  The antibody detects endogenous level of SMN1 protein.
Immunogen  Purified recombinant fragment of human SMN1 expressed in E. Coli.
UniProt Number  Q16637
GeneBank ID  NM_000344.3
Subcellular location  Cytoplasm. Nucleus ? gem. Note: Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).
Formulation  Ascitic fluid containing 0.03% sodium azide.
Altername  BCD541; Component of gems 1; Gemin 1; Gemin-1; Gemin1; OTTHUMP00000125198; OTTHUMP00000223567; OTTHUMP00000223568; OTTHUMP00000224066; OTTHUMP00000226924; SMA 1; SMA 2; SMA 3; SMA 4; SMA; SMA@; SMA1; SMA2; SMA3; SMA4; SMN 1; SMN; SMN-1; SMN_HUMAN; SMN1; SMN2; SMNT; Survival motor neuron protein; Survival of motor neuron 1 (telomeric); survival of motor neuron 1; Survival of motor neuron 1, telomeric; T-BCD541;
Gene_symbol  SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
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. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]
UniPort summary  Function  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.
Application Images :  
Western blot detection of SMN1 antibody in COS7, Jurkat and Hela cell lysates using SMN1 antibody (dilution 1:1000).Predicted band size:35 KDa.Observed band size:39KDa.