Recombinant Human Ribosome maturation protein SBDS (SBDS)

1. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients. PMID: 27519942
2. SBDS mutation is associated with Shwachman Diamond-Syndrome. PMID: 28509441
3. SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha-p30 and C/EBPbeta-LIP, which is controlled by a single cis-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs. PMID: 26762974
4. Association of Elongation Factor-like 1 (EFL1) GTPase to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. PMID: 25991726
5. 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 PMID: 26866830
6. Upon EFL1 binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 that displaces eIF6 by competing for an overlapping binding site on the 60S ribosomal subunit. PMID: 26479198
7. Association of EFL1 to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. PMID: 25991726
8. Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population. PMID: 24636098
9. The interaction between EFL1 and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 interacted directly with SBDS. PMID: 24406167
10. SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP for human GTPase. PMID: 23831625
11. Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia suggests this subset is unlikely to have underlying sds PMID: 23189942
12. We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation PMID: 22997148
13. SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining. PMID: 23115272
14. Erythropoiesis (in normal stem cells or in cells from Shwachman-Diamond syndrome patients) requires SBDS. Knockdown of SBDS leads to oxidative stress, to increased levels of ROS during erythroid differentiation, and disrupts ribosome biogenesis. PMID: 21963601
15. the amount of mutated SBDS protein was decreased PMID: 21660439
16. SBDS full-length protein was localized in both the nucleus and cytoplasm, whereas patient-related truncated SBDS protein isoforms localize predominantly to the nucleus. PMID: 21695142
17. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth in cancer. PMID: 20979173
18. Mutations of the Shwachman-Bodian-Diamond syndrome gene is not associated with refractory cytopenia. PMID: 19951977
19. determined the solution structure and backbone dynamics of the SBDS protein and describe its RNA binding site using NMR spectroscopy PMID: 20053358
20. analysis of SBDS expression and localization at the mitotic spindle in human myeloid progenitors PMID: 19759903
21. Mutations in SBDS are associated with Shwachman-Diamond syndrome PMID: 12496757
22. gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene PMID: 14749921
23. most, but not all, patients classified based on rigorous clinical criteria as having SDS had compound heterozygous mutations of SBDS; presence (or absence) of SBDS mutations may define subgroups of patients with SDS PMID: 15284109
24. patients with genetically proven SDS a genotype-phenotype relationship in SDS does not exist in clinical and hematologic terms PMID: 15769891
25. SBDS localization was cell-cycle dependent, with nucleolar localization during G1 and G2 and diffuse nuclear localization during S phase PMID: 15860664
26. analysis of phenotypic heterogeneity in Shwachman-Diamond syndrome patients carrying identical SBDS mutations PMID: 15942154
27. findings link Shwachman-Diamond syndrome to other bone marrow failure syndromes with defects in nucleolus-associated processes, including Diamond-Blackfan anemia, cartilage-hair hypoplasia, and dyskeratosis congenita PMID: 16529906
28. This is the first report of compound heterozygous missense mutations occurring in patients with SDS. Two novel missense mutations (c.362A > C in exon 3, and c.523C > T in exon 4) of the SBDS gene were identified in the patient. PMID: 17046571
29. A novel missense mutation (79TC) in exon 1 is reported in a girl with spondylometaphysial dysplasia, ecpanding the phenotype beyond Shwachman-Bodian-Diamond syndrome. PMID: 17400792
30. Mutations in the SBDS gene is associated with acquired aplastic anemia PMID: 17478638
31. SBDS is found in complexes containing the human Nip7 ortholog. PMID: 17643419
32. summary of documented SBDS mutations associated with Shwachman-Diamond syndrome PMID: 17916435
33. genetic analysis of SBDS and SH2D1A in Japanese children with AA PMID: 18024409
34. Mutations in the SBDS gene may therefore be the fifth identified molecular defect in CVID. PMID: 18190602
35. SBDS has pro-survival properties. Its inhibition results in accelerated apoptosis through the Fas pathway. PMID: 18268284
36. findings suggest that Shwachman-Diamond syndrome patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern PMID: 18280855
37. SBDS loss results in abnormal accumulation of Fas at the plasma membrane, where it sensitizes the cells to stimulation by Fas ligand PMID: 19009351
38. We confirmed significant overexpression of osteoprotegerin and vascular endothelial growth factor-A by ELISA from supernatants of SBDS-depleted HeLa cells. PMID: 19014892
39. in all cases the i(7)(q10) carries a double dose of the c.258+2T>C. As the c.258+2T>C mutation still allows the production of some amount of normal protein, this may contribute to the low incidence of MDS/AML in this subset of SDS patients PMID: 19148133
40. SBDS is a multi-functional protein implicated in cellular stress responses. PMID: 19602484
41. A novel mutation in a Fijian boy with Shwachman-Diamond syndrome. PMID: 19816210
42. Mutations in SBDS are associated with Shwachman-Diamond syndrome. PMID: 12496757

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HGNC: 19440

OMIM: 260400

KEGG: hsa:51119

STRING: 9606.ENSP00000246868

UniGene: Hs.110445