SMN1

Official Full Name

survival of motor neuron 1, telomeric

Organism

Homo sapiens

Gene ID

6606

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]

Synonyms

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

Cat.No.	Product Name	Price
CSC-DC014761	Panoply™ Human SMN1 Knockdown Stable Cell Line	Inquiry
CSC-SC014761	Panoply™ Human SMN1 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD00390Z	SMN1 adenovirus	Inquiry
AD15163Z	Human SMN1 adenoviral particles	Inquiry
LV26127L	human SMN1 (NM_022874) lentivirus particles	Inquiry
LV26128L	human SMN1 (NM_000344) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH413464	shRNA set against Mouse SMN1 (NM_011420.2)	Inquiry
SHH413468	shRNA set against Rat SMN1 (NM_022509.1)	Inquiry
SHL019206	shRNA set against Mouse Smn1(NM_011420.2)	Inquiry
SHL019260	shRNA set against Rat Smn1(NM_022509.1)	Inquiry
SHW014681	shRNA set against Danio rerio SMN1 (NM_131191)	Inquiry

Cat.No.	Product Name	Price
CDCH401437	Human SMN1 ORF clone(NM_000344.3)	Inquiry
CDFR011866	Rat Smn1 cDNA Clone(NM_022509.1)	Inquiry
MiUTR1M-10998	SMN1 miRNA 3'UTR clone	Inquiry
MiUTR1R-07566	SMN1 miRNA 3'UTR clone	Inquiry
MiUTR3H-03290	SMN1 miRNA 3'UTR clone	Inquiry
MiUTR3H-03291	SMN1 miRNA 3'UTR clone	Inquiry
CDCB176156	Danio rerio SMN1 ORF Clone (NM_131191)	Inquiry
CDCH401438	Mouse SMN1 ORF clone(NM_011420.2)	Inquiry
CDCH401439	Mouse SMN1 ORF clone(NM_001252629.1)	Inquiry
CDCR379025	Rat Smn1 ORF Clone(NM_022509.1)	Inquiry

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