Property Summary

NCBI Gene PubMed Count 56
PubMed Score 162.31
PubTator Score 117.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
lung adenocarcinoma -1.100 6.9e-23
acute myeloid leukemia 1.100 9.0e-03

Gene RIF (39)

PMID Text
26479198 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.
25991726 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.
24636098 Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.
24406167 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.
23831625 SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP for human GTPase.
23189942 Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia suggests this subset is unlikely to have underlying sds
23115272 SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining.
22997148 We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation
22371183 mesenchymal stromal cells from MDS patients show low gene and protein expression of DICER1 and DROSHA which are involved in the microRNA biogenesis, as well as their target gene SBDS.
21963601 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.
21695142 SBDS full-length protein was localized in both the nucleus and cytoplasm, whereas patient-related truncated SBDS protein isoforms localize predominantly to the nucleus.
21660439 the amount of mutated SBDS protein was decreased
20979173 SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth in cancer.
20053358 determined the solution structure and backbone dynamics of the SBDS protein and describe its RNA binding site using NMR spectroscopy
19951977 Mutations of the Shwachman-Bodian-Diamond syndrome gene is not associated with refractory cytopenia.
19816210 A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
19759903 analysis of SBDS expression and localization at the mitotic spindle in human myeloid progenitors
19602484 SBDS is a multi-functional protein implicated in cellular stress responses.
19148133 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
19014892 We confirmed significant overexpression of osteoprotegerin and vascular endothelial growth factor-A by ELISA from supernatants of SBDS-depleted HeLa cells.
19009351 SBDS loss results in abnormal accumulation of Fas at the plasma membrane, where it sensitizes the cells to stimulation by Fas ligand
18280855 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
18268284 SBDS has pro-survival properties. Its inhibition results in accelerated apoptosis through the Fas pathway.
18190602 Mutations in the SBDS gene may therefore be the fifth identified molecular defect in CVID.
18024409 genetic analysis of SBDS and SH2D1A in Japanese children with AA
17916435 summary of documented SBDS mutations associated with Shwachman-Diamond syndrome
17643419 SBDS is found in complexes containing the human Nip7 ortholog.
17478638 Observational study of gene-disease association. (HuGE Navigator)
17478638 Mutations in the SBDS gene is associated with acquired aplastic anemia
17400792 A novel missense mutation (79TC) in exon 1 is reported in a girl with spondylometaphysial dysplasia, ecpanding the phenotype beyond Shwachman-Bodian-Diamond syndrome.
17046571 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.
16529906 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
15942154 analysis of phenotypic heterogeneity in Shwachman-Diamond syndrome patients carrying identical SBDS mutations
15860664 SBDS localization was cell-cycle dependent, with nucleolar localization during G1 and G2 and diffuse nuclear localization during S phase
15769891 patients with genetically proven SDS a genotype-phenotype relationship in SDS does not exist in clinical and hematologic terms
15284109 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
14749921 gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene
12496757 Mutations in SBDS are associated with Shwachman-Diamond syndrome
12496757 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

AA Sequence

MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNVSKGQVAKKED      1 - 70
LISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCVNPETKRPYTVILIERAMKDI     71 - 140
HYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPVNEGKKLKEKLKPLIKVIESEDYGQQLEIVC    141 - 210
LIDPGCFREIDELIKKETKGKGSLEVLNLKDVEEGDEKFE                                  211 - 250
//

Text Mined References (60)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26479198 2015 Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
25991726 2015 Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24898207 2014 Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
24636098 2014 Variations in exon-2 of SBDS gene and its association with aplastic anemia.
24406167 2014 Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23831625 2013 Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
23189942 2013 Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
23115272 2012 Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
22997148 2013 Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22371183 2012 Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21963601 2011 The ribosome-related protein, SBDS, is critical for normal erythropoiesis.
21695142 2011 Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
21660439 2011 Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
21536732 2011 Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
21269460 2011 Initial characterization of the human central proteome.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20979173 2010 SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth.
20053358 2010 Structure, dynamics, and RNA interaction analysis of the human SBDS protein.
19951977 2010 Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen?
19816210 2009 A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
19759903 2009 SBDS expression and localization at the mitotic spindle in human myeloid progenitors.
19602484 2009 Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
19148133 2009 The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.
19014892 Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A.
19009351 2009 SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane.
18478597 2008 Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.
18324336 2008 Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
18280855 2008 Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
18268284 2008 SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.
18190602 2008 Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
18024409 2007 Mutation of SBDS and SH2D1A is not associated with aplastic anemia in Japanese children.
17920346 2007 Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
17916435 Hematologically important mutations: Shwachman-Diamond syndrome.
17643419 2007 The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels.
17478638 2007 Mutations in the SBDS gene in acquired aplastic anemia.
17475909 2007 The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
17400792 2007 The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17046571 2006 Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
16529906 2006 Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.
15942154 2005 Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
15860664 2005 The Shwachman-Diamond SBDS protein localizes to the nucleolus.
15769891 2005 Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342903 2004 Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
15284109 2004 Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
14749921 2004 Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
14743349 2004 The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12032733 2002 Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.