SMN1 (Survival of Motor Neuron 1, Telomeric, SMN1)
Short Description: 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].
More information related to gene SMN1.
More information related to gene SMN1.
Products related to SMN1 Gene:
Recommended next Filters:
81 results :
ORF
Clon
Cloning Vector
pORF
Spectinomycin
unconjugated
Transient
- Type:
- ORF
- Application:
- Cloning
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- Species:
- Human
- Vector type:
- Cloning Vector
- Vector backbone:
- pORF
- Resistance Gene:
- Spectinomycin
- Expression:
- Transient
cDNA
PExp
Mammalian Expression Vector
pPM-C-HA
Kanamycin
CMV Promoter
HA tag
Stable
- Type:
- cDNA
- Application:
- Protein Expression
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_000344
- Species:
- Human
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pPM-C-HA
- Resistance Gene:
- Kanamycin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- HA tag
- Expression:
- Stable, Transient
cDNA
PExp
Mammalian Expression Vector
pPM-C-HA
Kanamycin
CMV Promoter
HA tag
Stable
- Type:
- cDNA
- Application:
- Protein Expression
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- Species:
- Human
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pPM-C-HA
- Resistance Gene:
- Kanamycin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- HA tag
- Expression:
- Stable, Transient
ORF
Clon
Cloning Vector
pORF
Spectinomycin
unconjugated
Transient
- Type:
- ORF
- Application:
- Cloning
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_000344
- Species:
- Human
- Vector type:
- Cloning Vector
- Vector backbone:
- pORF
- Resistance Gene:
- Spectinomycin
- Expression:
- Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_022509
- Species:
- Rat
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_011420
- Species:
- Mouse
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_000344
- Species:
- Human
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
cDNA
Clon
Bacterial Expression Vector
pPB-His-GST
Kanamycin
T7 Promoter
His-GST
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_000344
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-His-GST
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His-GST
- Expression:
- Transient
cDNA
Clon
Bacterial Expression Vector
pPB-N-His
Kanamycin
T7 Promoter
His tag
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- NCBI Accession:
- NM_000344
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-N-His
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His tag
- Expression:
- Transient
cDNA
Clon
Bacterial Expression Vector
pPB-N-His
Kanamycin
T7 Promoter
His tag
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Survival of Motor Neuron 1, Telomeric (SMN1)
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-N-His
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His tag
- Expression:
- Transient
Synonyms and alternative names related to SMN1
- survival motor neuron protein (LOC461829)
- survival of motor neuron 1, telomeric (Smn1)
- survival of motor neuron 1, telomeric (SMN1)
- survival motor neuron 1 (Smn1)
- survival of motor neuron 2, centromeric (SMN2)
- survival motor neuron protein-like (LOC100348318)
- survival motor neuron (SMN)
- survival motor neuron protein (LOC100713418)
- survival motor neuron protein (LOC100065744)
- survival motor neuron protein (LOC102176643)
- survival of motor neuron 1, telomeric (smn1)
- AI849087
- BCD541
- fa12d01
- GEMIN1
- Gemin1
- QtsA-10002
- SMA
- SMA1
- SMA2
- SMA3
- SMA4
- SMA@
- Smn
- SMN
- smn
- SMN1
- SMN2
- SMNT
- T-BCD541
- TDRD16A
- wu:fa12d01
Gene-IDs for different species
Protein level used designations for SMN1
- survival of motor neuron 2, centromeric
- survival motor neuron 1
- survival motor neuron protein
- component of gems 1
- gemin-1
- survival motor neuron 1 protein
- tudor domain containing 16A
- survival of motor neuron protein
- survival of motor neuron 1, telomeric
- survival motor neuron protein 1
Proteomics products related to SMN1 Gene
Other products related to SMN1 such as antibodies, ELISA kits and high-purity proteins are available on our partner website antibodies-online.com
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