SMNDC1 Human

Survival Motor Neuron Domain Containing 1 Human Recombinant
Cat. No.
BT17470
Source
Escherichia Coli.
Synonyms
SMNR, SMN-related protein, SPF30, Survival Motor Neuron Domain Containing 1, 30kDa Splicing Factor SMNrp, Splicing Factor 30, Survival of Motor Neuron-related.
Appearance
Sterile Filtered clear solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
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Description

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.

Product Specs

Introduction
SMNDC1, a member of the SMN family, is an essential splicing factor crucial for spliceosome assembly. This protein contains a Tudor domain that shares significant similarity with the Survival Motor Neuron (SMN) protein. SMNDC1 is found in various tissues, including the heart, pancreas, and skeletal muscle, and localizes to Cajal bodies and nuclear speckles within cells. Notably, mutations in the SMNDC1 gene can lead to autosomal recessive proximal spinal muscular atrophy.
Description
This product consists of the SMNDC1 protein produced in E. coli. It is a single, non-glycosylated polypeptide chain comprising 258 amino acids (amino acids 1-238) and has a molecular weight of 28.9 kDa. The protein includes a 20 amino acid His-tag fused at the N-terminus to facilitate purification, which is carried out using proprietary chromatographic techniques.
Physical Appearance
A clear solution that has undergone sterile filtration.
Formulation
The SMNDC1 protein is provided at a concentration of 0.5 mg/ml in a 20mM Tris-HCl buffer with a pH of 8.0. The buffer also contains 1mM DTT, 100mM NaCl, and 10% glycerol.
Purity
The purity of the SMNDC1 protein is greater than 90%, as determined by SDS-PAGE analysis.
Stability
For short-term storage (2-4 weeks), the product can be stored at 4°C. For longer-term storage, it is recommended to freeze the product at -20°C. Repeated freezing and thawing of the product should be avoided.
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.
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

Product Science Overview

Introduction

Survival Motor Neuron Domain Containing 1 (SMNDC1), also known as Survival of Motor Neuron-Related-Splicing Factor 30 (SPF30), is a protein encoded by the SMNDC1 gene in humans. This protein is a constituent of the spliceosome complex, which is essential for RNA splicing, a critical process in gene expression. SMNDC1 is a paralog of the SMN1 gene, which encodes the survival motor neuron protein, mutations in which are the cause of autosomal recessive proximal spinal muscular atrophy .

Gene and Protein Structure

The SMNDC1 gene is located on chromosome 10 at the band 10q25.2 and spans approximately 14,208 base pairs. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. It is involved in the assembly of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the spliceosome .

Function

SMNDC1 plays a crucial role in RNA splicing, a process that removes introns from pre-mRNA and joins exons together to form mature mRNA. This process is vital for the proper expression of genes and the production of functional proteins. The protein is also involved in mRNA processing and the apoptotic process .

Expression

The SMNDC1 gene is differentially expressed in various tissues, with abundant levels in skeletal muscle. It is also expressed in other tissues such as the amniotic fluid, buccal mucosa, germinal epithelium, cartilage tissue, gingival epithelium, parietal pleura, retinal pigment epithelium, jejunal mucosa, and palpebral conjunctiva .

Clinical Significance

Mutations in the SMN1 gene, a paralog of SMNDC1, are known to cause autosomal recessive proximal spinal muscular atrophy, a severe genetic disorder characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle wasting and weakness. While SMNDC1 itself is not directly implicated in this disorder, its role in RNA splicing and its similarity to SMN1 suggest that it may share similar cellular functions .

Research and Applications

Research on SMNDC1 is ongoing to better understand its role in RNA splicing and its potential implications in genetic disorders. The recombinant form of this protein is used in various research applications to study its function and interactions within the spliceosome complex .

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