Human SBDS Recombinant Protein (RPPB4586)
- SKU:
- RPPB4586
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q9Y3A5
Description
| Product Name: | Human SBDS Recombinant Protein |
| Product Code: | RPPB4586 |
| Size: | 20µg |
| Species: | Human |
| Target: | SBDS |
| Synonyms: | SDS, SWDS, Shwachman-Bodian-Diamond syndrome, Ribosome Maturation protein SBDS. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | The SBDS protein solution (0.5mg/1ml) is formulated in 20mM Tris-HCl buffer (pH8.0) 2mM DTT, 50mM NaCl, 0.1mM EDTA, and 20% 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 95% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK DVEEGDEKFE |
SBDS is part of an extremely preserved protein family which exists from archaea to vertebrates and plants. SBDS protein functions in RNA metabolism and has a role in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Shwachman-Diamond syndrome is a rare autosomal recessive disorder produced by mutations in the SBDS gene.
SBDS produced in E.Coli is a single, non-glycosylated polypeptide chain containing 270 amino acids (1-250a.a.) and having a molecular mass of 30.9kDa.SBDS is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | SBDS: Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. Defects in SBDS are the cause of Shwachman-Diamond syndrome (SDS). SDS is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. Belongs to the SDO1/SBDS family. |
| UniProt Protein Details: | Protein type:Nucleolus Chromosomal Location of Human Ortholog: 7q11.21 Cellular Component: nucleoplasm; spindle pole; cytoplasm; nucleolus; nucleus Molecular Function:rRNA binding; protein binding; microtubule binding; ribosome binding Biological Process: bone marrow development; cell proliferation; leukocyte chemotaxis; ribosomal large subunit biogenesis and assembly; inner cell mass cell proliferation; mitotic spindle stabilization; bone mineralization; rRNA processing; mature ribosome assembly Disease: Shwachman-diamond Syndrome; Aplastic Anemia |
| NCBI Summary: | This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9Y3A5 |
| NCBI GenInfo Identifier: | 28380824 |
| NCBI Gene ID: | 51119 |
| NCBI Accession: | Q9Y3A5.4 |
| UniProt Secondary Accession: | Q9Y3A5,Q96FX0, Q9NV53, A8K0P4, |
| UniProt Related Accession: | Q9Y3A5 |
| Molecular Weight: | 250 |
| NCBI Full Name: | Ribosome maturation protein SBDS |
| NCBI Synonym Full Names: | Shwachman-Bodian-Diamond syndrome |
| NCBI Official Symbol: | SBDS�� |
| NCBI Official Synonym Symbols: | SDS; SWDS; CGI-97�� |
| NCBI Protein Information: | ribosome maturation protein SBDS |
| UniProt Protein Name: | Ribosome maturation protein SBDS |
| UniProt Synonym Protein Names: | Shwachman-Bodian-Diamond syndrome protein |
| Protein Family: | Ribosome maturation protein |
| UniProt Gene Name: | SBDS�� |
| UniProt Entry Name: | SBDS_HUMAN |
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