SBDS recombinant protein

SBDS Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121852

• Gene Names: SBDS; SDS; SWDS; CGI-97
• Purity: >95% as determined by SDS-PAGE
• Synonyms: SBDS; SBDS Protein; Human; Recombinant (His Tag); Human SBDS/Shwachman-Bodian-Diamond syndrome Protein (His Tag); CGI-97 Protein; SDS Protein; SWDS Protein; Shwachman-Bodian-Diamond syndrome; SBDS recombinant protein

• Host: E Coli
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 10% glycerol. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Glu250

• Species: Human
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the human SBDS (Q9Y3A5)(Met1-Glu250) was expressed with a polyhistidine tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for SBDS recombinant protein

Background: The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. SBDS deficiency leads to telomere shortening, that SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment.

NCBI and Uniprot Product Information

• NCBI GI #: 28416940
• NCBI GeneID: 51119
• NCBI Accession #: NP_057122.2
• NCBI GenBank Nucleotide #: NM_016038.2
• UniProt Accession #: Q9Y3A5; Q96FX0; Q9NV53; A8K0P4
• Molecular Weight: 28,764 Da
• NCBI Official Full Name: ribosome maturation protein SBDS
• NCBI Official 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
• Protein Family: Ribosome maturation protein
• UniProt Gene Name: SBDS
• UniProt Entry Name: SBDS_HUMAN

NCBI Description

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 Description

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.

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; mitotic spindle stabilization; inner cell mass cell proliferation; rRNA processing; mature ribosome assembly; bone mineralization

Disease: Shwachman-diamond Syndrome; Aplastic Anemia