SMN1 Antilichaam - N-terminalgebied: HRP (ARP40209 P050-HRP)

Survival of motor neuron 1, telomeric

SMA, SMN, SMA1, SMA2, SMA3, SMA4, SMA@, SMNT, BCD541, GEMIN1, TDRD16A, T-BCD541

6606

Q16637

NP_075012

Human, Mouse, Rat, Dog, Guinea Pig, Horse, Pig, Rabbit

The immunogen is a synthetic peptide directed towards the N terminal region of human SMN1

SMN1 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.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. 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 are produced by this gene.

COPA; RNF2; BMI1; KDM1A; SMN1; RN7SL1; UBC; HDAC11; MIB1; GEMIN4; DICER1; DDX20; PAN2; RBFOX2; HNRNPUL1; IQCB1; UBL4A; SMN2; NOS2; vpr; GEMIN2; SRP68; SRP54; SRP19; SRP9; RNU2-1; RNU1-1; GEMIN5; MDC1; RBM25; COIL; SRSF5; HSPB1; CUL3; DDAH2; MAST2; SMC5; R

HRP: Horseradish Peroxidase

Polyclonal Antibody

WB

Affinity Purified

SMN1 is supported by BioGPS gene expression data to be expressed in MCF7

0.5 mg/ml

Dog: 100%; Guinea Pig: 85%; Horse: 93%; Human: 100%; Mouse: 100%; Pig: 93%; Rabbit: 85%; Rat: 92%

Liquid. Purified antibody is supplied in high phosphate PBS, 100 mm phosphate, 150 mM NaCl, pH 7.6.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

28kDa

Hirano, M., (2008) Arch. Neurol. 65 (3), 403-406

Wet Ice

262

SMN1

SMN1

Rabbit

Survival motor neuron protein

NM_022874

KAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKV