SMN1
survival of motor neuron 1, telomeric
别名:
BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
物种:
Human SMN1 (6606), Mouse Smn1 (20595), Rat Smn1 (64301), Zebrafish smn1 (30432), naked mole-rat Smn1 (101706874), domestic guinea pig Smn1 (100713418), sheep SMN1 (101110178), cow SMN1 (281492)
UniProtKB ID:
基因ID:
- Human(6606) 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]
- Mouse(20595) survival motor neuron 1
- Rat(64301) survival of motor neuron 1, telomeric
- Zebrafish(30432) survival motor neuron 1
- naked mole-rat(101706874) survival of motor neuron 1, telomeric
- domestic guinea pig(100713418) survival of motor neuron 1, telomeric
- sheep(101110178) survival of motor neuron 1, telomeric
- cow(281492) survival of motor neuron 1, telomeric
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Antibodies
货号
说明
物种反应性
应用
Monoclonal Anti-SMN1 antibody produced in mouse, clone 2F1, ascites fluid,
物种反应性
human, monkey
应用
ELISA
flow cytometry
immunohistochemistry
western blot
flow cytometry
immunohistochemistry
western blot
Anti-SMN1 antibody produced in rabbit, affinity isolated antibody,
物种反应性
dog, human, mouse
应用
western blot
Anti-SMN Antibody, clone 2B1 ZooMAb® Mouse Monoclonal, recombinant, expressed in HEK 293 cells,
物种反应性
human
应用
flow cytometry
immunocytochemistry
immunohistochemistry
western blot
immunocytochemistry
immunohistochemistry
western blot
Anti-SMN1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
物种反应性
human
应用
immunofluorescence
western blot
western blot
Anti-SMN1 Antibody, clone 9N9Q6, Rabbit Monoclonal, ,
物种反应性
human, rat
应用
immunohistochemistry
western blot
western blot