Rabbit anti-Human SMN1 Polyclonal Antibody | anti-SMN1 antibody

SMN1, CT (SMN1, SMN, SMNT, Survival motor neuron protein, Component of gems 1, Gemin-1)

Cat. Num. AAA648655

• Gene Names: SMN1; SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: SMN1; Polyclonal Antibody; CT (SMN1; SMN; SMNT; Survival motor neuron protein; Component of gems 1; Gemin-1); Anti -SMN1; anti-SMN1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Human
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

• Applicable Applications for anti-SMN1 antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Suitable for use in Western Blot, ELISA; Dilution: ELISA: 1:1,000; Western Blot: 1:100-500
• Immunogen: SMN1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 261-289 amino acids from the C-terminal region of human SMN1.
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot analysis of MBS648655 in 293 cell line lysates (35ug/lane). This demonstrates the SMN1 antibody detected the SMN1 protein (arrow).)

Related Product Information for anti-SMN1 antibody

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.

Product Categories/Family for anti-SMN1 antibody

Antibodies; Abs to Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 13259512
• NCBI GeneID: 6606
• NCBI Accession #: NP_075012.1
• NCBI GenBank Nucleotide #: NM_022874.2
• UniProt Accession #: Q16637; Q13119; Q549U5; Q96J51; A8K0V4
• Molecular Weight: 31,849 Da
• NCBI Official Full Name: survival motor neuron protein isoform b
• NCBI Official Synonym Full Names: survival of motor neuron 1, telomeric
• NCBI Official Symbol: SMN1
• NCBI Official Synonym Symbols: SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541
• NCBI Protein Information: survival motor neuron protein; gemin-1; component of gems 1; tudor domain containing 16A; survival motor neuron 1 protein
• UniProt Protein Name: Survival motor neuron protein
• Protein Family: Survival motor neuron protein
• UniProt Gene Name: SMN1
• UniProt Synonym Gene Names: SMN; SMNT
• UniProt Entry Name: SMN_HUMAN

NCBI 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]

Uniprot Description

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. Ref.12

Subunit structure: Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10 and LSM11. Ref.11 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.19

Subcellular location: Cytoplasm. Nucleus › gem. Note: Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems). Ref.9 Ref.15

Tissue specificity: Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level). Ref.10 Ref.14

Domain: The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.

Involvement in disease: Spinal muscular atrophy 1 (SMA1) [MIM:253300]: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.33 Ref.35 Ref.38 Ref.39Spinal muscular atrophy 2 (SMA2) [MIM:253550]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.36 Ref.37Spinal muscular atrophy 3 (SMA3) [MIM:253400]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34 Ref.35 Ref.36Spinal muscular atrophy 4 (SMA4) [MIM:271150]: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk.Note: The disease is caused by mutations affecting the gene represented in this entry.

Miscellaneous: The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected.

Sequence similarities: Belongs to the SMN family.Contains 1 Tudor domain.