Property Summary

NCBI Gene PubMed Count 56
Grant Count 52
R01 Count 21
Funding $15,602,476.5
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 0.000
acute myeloid leukemia 1.100 0.009

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.
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AA Sequence

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