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Browse our Shwachman-Bodian-Diamond Syndrome Proteins (SBDS)

Full name:
Shwachman-Bodian-Diamond Syndrome Proteins (SBDS)
On www.antibodies-online.com are 17 Shwachman-Bodian-Diamond Syndrome (SBDS) Proteins from 9 different suppliers available. Additionally we are shipping Shwachman-Bodian-Diamond Syndrome Antibodies (44) and Shwachman-Bodian-Diamond Syndrome Kits (5) and many more products for this protein. A total of 70 Shwachman-Bodian-Diamond Syndrome products are currently listed.
Synonyms:
4733401P19Rik, AI836084, CGI-97, SDS, SWDS, zgc:56700
list all proteins Gene Name GeneID UniProt
SBDS 51119 Q9Y3A5
SBDS 288615 Q5RK30
SBDS 66711 P70122

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Shwachman-Bodian-Diamond Syndrome Proteins (SBDS) by Origin

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Top referenced Shwachman-Bodian-Diamond Syndrome Proteins

  1. Human SBDS Protein expressed in Escherichia coli (E. coli) - ABIN2181723 : Austin, Leary, Shimamura: The Shwachman-Diamond SBDS protein localizes to the nucleolus. in Blood 2005 (PubMed)
    Show all 3 references for ABIN2181723

  2. Human SBDS Protein expressed in Escherichia coli (E. coli) - ABIN667248 : Toiviainen-Salo, Savilahti, Mäkitie, Mäkitie: [Shwachman-Diamond syndrome--a diagnostic challenge]. in Duodecim; lääketieteellinen aikakauskirja 2010 (PubMed)
    Show all 2 references for ABIN667248

More Proteins for Shwachman-Bodian-Diamond Syndrome Interaction Partners

Zebrafish Shwachman-Bodian-Diamond Syndrome (SBDS) interaction partners

  1. Knockdown of the zebrafish sbds ortholog fully recapitulates the spectrum of developmental abnormalities observed in the human Shwachman-Bodian-Diamond syndrome.

  2. The sbds gene function is essential for normal pancreas and myeloid development in zebrafish. Zebrafish is a model system to study sbds gene function and for evaluation of novel therapies for Shwachman-Diamond syndrome.

Human Shwachman-Bodian-Diamond Syndrome (SBDS) interaction partners

  1. Association of EFL1 (show EFNA1 Proteins) to SBDS did not modify the affinity for GTP (show AK3 Proteins) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.

  2. The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs

  3. Upon EFL1 (show EFNA1 Proteins) binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (show EFNA1 Proteins) that displaces eIF6 (show EIF6 Proteins) by competing for an overlapping binding site on the 60S ribosomal subunit.

  4. Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.

  5. The interaction between EFL1 (show EFNA1 Proteins) and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 (show EFNA1 Proteins) interacted directly with SBDS.

  6. SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP (show AK3 Proteins) for human GTPase (show RACGAP1 Proteins).

  7. Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia (show BCL11A Proteins) suggests this subset is unlikely to have underlying sds (show SDS Proteins)

  8. We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation

  9. SBDS protein facilitates the release of eIF6 (show EIF6 Proteins), a factor that prevents ribosome joining.

  10. mesenchymal stromal cells from MDS (show PAFAH1B1 Proteins) patients show low gene and protein expression of DICER1 (show DICER1 Proteins) and DROSHA (show DROSHA Proteins) which are involved in the microRNA biogenesis, as well as their target gene SBDS.

Mouse (Murine) Shwachman-Bodian-Diamond Syndrome (SBDS) interaction partners

  1. Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

  2. Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.

  3. Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 (show RAC2 Proteins) and osteoclast differentiation signaling downstream of RANK.

  4. Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.

  5. loss of Sbds is sufficient to induce abnormalities in hematopoiesis

  6. The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.

Shwachman-Bodian-Diamond Syndrome (SBDS) Protein Profile

Protein 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.

Alternative names and synonyms associated with Shwachman-Bodian-Diamond Syndrome (SBDS)

  • Shwachman-Bodian-Diamond syndrome (sbds)
  • shwachman-Bodian-Diamond syndrome (LOAG_04440)
  • Shwachman-Bodian-Diamond syndrome (SBDS)
  • Shwachman-Bodian-Diamond syndrome (Sbds)
  • Shwachman-Bodian-Diamond syndrome homolog (human) (Sbds)
  • 4733401P19Rik protein
  • AI836084 protein
  • CGI-97 protein
  • SDS protein
  • SWDS protein
  • zgc:56700 protein

Protein level used designations for SBDS

ribosome maturation protein SBDS , shwachman-Bodian-Diamond syndrome protein homolog , shwachman-Bodian-Diamond syndrome , Shwachman-Bodian-Diamond syndrome homolog , protein 22A3

GENE ID SPECIES
448365 Xenopus (Silurana) tropicalis
9941848 Loa loa
394096 Danio rerio
100049749 Xenopus laevis
417477 Gallus gallus
51119 Homo sapiens
607017 Canis lupus familiaris
513237 Bos taurus
288615 Rattus norvegicus
100172536 Pongo abelii
66711 Mus musculus
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