SNURF Human

SNRPN Upstream Reading Frame Human Recombinant
Cat. No.
BT18876
Source
Escherichia Coli.
Synonyms
SNRPN Upstream Reading Frame Protein.
Appearance
Sterile Filtered clear solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage
THE BioTeks 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

SNURF Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 94 amino acids (1-71) and having a molecular mass of 10.8 kDa. SNURF is fused to a 23 amino acid His-tag at N-terminus.

Product Specs

Introduction
SNURF, a highly basic protein found exclusively in the nucleus, is encoded by an evolutionarily conserved open reading frame. This open reading frame is situated on a bicistronic transcript, with a downstream ORF responsible for encoding the small nuclear ribonucleoprotein polypeptide N. The transcript's initial three exons are utilized by the upstream coding region, recognized as an imprinting center. While the complete length of these transcripts remains to be fully elucidated, multiple transcription initiation sites have been pinpointed, and extensive alternative splicing occurs within the 5' untranslated region. Notably, an alternative exon exists, substituting for exon 4 and leading to a truncated, monocistronic transcript. Disruptions such as deletions or alternative splicing arising from translocations in the 5' UTR or coding region of this gene can lead to Prader-Willi syndrome or Angelman syndrome due to disruptions in the parental imprint switching mechanism.
Description
Recombinant human SNURF, produced in E. coli, is a single, non-glycosylated polypeptide chain comprising 94 amino acids (1-71) with a molecular weight of 10.8 kDa. The SNURF protein includes a 23 amino acid His-tag fused to its N-terminus.
Physical Appearance
A clear, sterile-filtered solution.
Formulation
The SNURF solution is provided at a concentration of 0.25mg/ml in a buffer consisting of 20mM Tris-HCl (pH 8.0), 0.15M NaCl, 1mM DTT, and 40% glycerol.
Stability
For short-term storage (up to 2-4 weeks), the product should be stored at 4°C. For extended storage, it is recommended to freeze the product at -20°C. The addition of a carrier protein such as HSA or BSA (0.1%) is advisable for long-term storage. Repeated freezing and thawing should be avoided.
Purity
The purity of the SNURF protein is determined to be greater than 90% using SDS-PAGE analysis.
Synonyms
SNRPN Upstream Reading Frame Protein.
Source
Escherichia Coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSMERARDR LHLRRTTEQH VPEVEVQVKR RRTASLSNQE CQLYPRRSQQ QQVPVVDFQA ELRQAFLAET PRGG

Product Science Overview

Introduction

The SNRPN Upstream Reading Frame (SNURF) is a protein encoded by the SNURF-SNRPN gene in humans. This gene is located on chromosome 15q11.2 and is known for its role in the regulation of gene expression through imprinting mechanisms . The SNURF-SNRPN gene is bicistronic, meaning it encodes two distinct proteins from a single mRNA transcript: the SNRPN upstream reading frame protein (SNURF) and the small nuclear ribonucleoprotein polypeptide N (SNRPN) .

Gene Structure and Expression

The SNURF-SNRPN gene utilizes multiple transcription initiation sites and undergoes extensive alternative splicing in its 5’ untranslated region . The upstream coding region of this gene includes the first three exons of the transcript, which have been identified as an imprinting center . This region is evolutionarily conserved and plays a crucial role in the regulation of gene expression.

Function and Localization

The SNURF protein is highly basic and localized to the nucleus . Although the exact function of SNURF is not fully understood, it is believed to be involved in RNA splicing and mRNA processing . The SNRPN protein, on the other hand, is a component of the spliceosome complex and is essential for the proper splicing of pre-mRNA .

Clinical Significance

Mutations or deletions in the SNURF-SNRPN gene can lead to several genetic disorders, including Angelman syndrome and Prader-Willi syndrome . These disorders are caused by the failure of the parental imprint switch, which results in the loss of function of the SNURF-SNRPN gene .

Research and Applications

The study of the SNURF-SNRPN gene and its encoded proteins has significant implications for understanding the mechanisms of gene imprinting and the regulation of gene expression. Human recombinant SNURF protein is used in various research applications to study its function and interactions with other proteins .

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