Description
| Product Name: | Human SMNDC1 Recombinant Protein |
| Product Code: | RPPB4719 |
| Size: | 10µg |
| Species: | Human |
| Target: | SMNDC1 |
| Synonyms: | SMNR, SMN-related protein, SPF30, Survival Motor Neuron Domain Containing 1, 30kDa Splicing Factor SMNrp, Splicing Factor 30, Survival of Motor Neuron-related. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | The SMNDC1 protein solution (0.5mg/1ml) is formulated in 20mM Tris-HCl buffer (pH8.0) 1mM DTT, 100mM NaCl and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.�Store, frozen at -20°C for longer periods of time.Please avoid freeze thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MSEDLAKQLA SYKAQLQQVE AALSGNGENE DLLKLKKDLQ EVIELTKDLL STQPSETLAS SDSFASTQPT HSWKVGDKCM AVWSEDGQCY EAEIEEIDEE NGTAAITFAG YGNAEVTPLL NLKPVEEGRK AKEDSGNKPM SKKEMIAQQR EYKKKKALKK AQRIKELEQE REDQKVKWQQ FNNRAYSKNK KGQVKRSIFA SPESVTGKVG VGTCGIADKP MTQYQDTSKY NVRHLMPQ |
SMNDC1 is a vital splicing factor obligatory for spliceosome assembly which is a part of the SMN family. SMNDC1 has one Tudor domain with significant similarity to Survival Motor Neuron (SMN) and is expressed in heart, pancreas and skeletal muscle, localizing to Cajal bodies and nuclear speckles. Mutations in SMNDC1 are cause of autosomal recessive proximal spinal muscular atrophy.
SMNDC1 produced in E.Coli is a single, non-glycosylated polypeptide chain containing 258 amino acids (1-238a.a.) and having a molecular mass of 28.9kDa.SMNDC1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | SPF30: Necessary for spliceosome assembly. Overexpression causes apoptosis. Belongs to the SMN family. |
| UniProt Protein Details: | Protein type:Spliceosome; RNA processing; RNA splicing; RNA-binding Chromosomal Location of Human Ortholog: 10q23 Cellular Component: nucleoplasm; spliceosome; Cajal body; intermediate filament cytoskeleton; cytoplasm; nuclear speck; nucleus Molecular Function:protein binding Biological Process: RNA splicing, via transesterification reactions; apoptosis; RNA splicing; spliceosome assembly; mRNA processing |
| NCBI Summary: | This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | O75940 |
| NCBI GenInfo Identifier: | 37087924 |
| NCBI Gene ID: | 10285 |
| NCBI Accession: | O75940.1 |
| UniProt Related Accession: | O75940 |
| Molecular Weight: | |
| NCBI Full Name: | Survival of motor neuron-related-splicing factor 30 |
| NCBI Synonym Full Names: | survival motor neuron domain containing 1 |
| NCBI Official Symbol: | SMNDC1�� |
| NCBI Official Synonym Symbols: | SMNR; SPF30; TDRD16C�� |
| NCBI Protein Information: | survival of motor neuron-related-splicing factor 30 |
| UniProt Protein Name: | Survival of motor neuron-related-splicing factor 30 |
| UniProt Synonym Protein Names: | 30 kDa splicing factor SMNrp; SMN-related protein; Survival motor neuron domain-containing protein 1 |
| Protein Family: | Survival of motor neuron-related-splicing factor |
| UniProt Gene Name: | SMNDC1�� |
| UniProt Entry Name: | SPF30_HUMAN |
