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Shwachman Bodian Diamond Syndrome Protein (SBDS)

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SDS; CGI-97; SWDS; Ribosome maturation protein SBDS

Shwachman Bodian Diamond Syndrome Protein (SBDS)
CCC J755
HGNC 19440
MGI 1913961
PubMed 17475909
RGD 1311043
UniProt Q9Y3A5
Wiki SBDS
SBDS 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.
SBDS gene is composed of 5 exons spanning 7.9 kb. SBDS and an adjacent gene reside in a block of 305 kb of genomic sequence that is locally duplicated. The paralogous duplicon is located 5.8 Mb distally and contains an unprocessed pseudogene copy of SBDS designated SBDSP.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Shwachman Bodian Diamond Syndrome Protein (SBDS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Shwachman Bodian Diamond Syndrome Protein (SBDS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Shwachman Bodian Diamond Syndrome Protein (SBDS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Shwachman Bodian Diamond Syndrome Protein (SBDS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Shwachman Bodian Diamond Syndrome Protein (SBDS) ELISA Kit Customized Service Offer
  1. "Mutations in SBDS are associated with Shwachman-Diamond syndrome."Nat. Genet. 33:97-101(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. , Submitted (NOV-2005) to UniProtKB
  6. "The Shwachman-Diamond SBDS protein localizes to the nucleolus."Blood 106:1253-1258(2005) [PubMed] [Europe PMC] [Abstract]
  7. "The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA."Blood 110:1458-1465(2007) [PubMed] [Europe PMC] [Abstract]
  8. "The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels."Exp. Cell Res. 313:4180-4195(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses."Hum. Mol. Genet. 18:3684-3695(2009) [PubMed] [Europe PMC] [Abstract]
  10. "SBDS expression and localization at the mitotic spindle in human myeloid progenitors."PLoS ONE 4:E7084-E7084(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  13. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Structure, dynamics, and RNA interaction analysis of the human SBDS protein."J. Mol. Biol. 396:1053-1069(2010) [PubMed] [Europe PMC] [Abstract]
  16. "Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome."Genes Dev. 25:917-929(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome."BMC Med. Genet. 15:64-64(2014) [PubMed] [Europe PMC] [Abstract]