Type |
Details |
Score |
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
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•
•
•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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•
•
•
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•
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
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•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
•
•
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
•
•
•
•
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Publication |
First Author: |
Tan S |
Year: |
2019 |
Journal: |
Blood |
Title: |
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. |
Volume: |
134 |
Issue: |
3 |
Pages: |
277-290 |
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•
•
•
•
•
|
Publication |
First Author: |
Romano N |
Year: |
2018 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Upregulation of eIF6 inhibits cardiac hypertrophy induced by phenylephrine. |
Volume: |
495 |
Issue: |
1 |
Pages: |
601-606 |
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•
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Strain |
Attribute String: |
targeted mutation, mutant stock |
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•
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Publication |
First Author: |
Ye C |
Year: |
2020 |
Journal: |
Nucleic Acids Res |
Title: |
BCCIP is required for nucleolar recruitment of eIF6 and 12S pre-rRNA production during 60S ribosome biogenesis. |
Volume: |
48 |
Issue: |
22 |
Pages: |
12817-12832 |
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•
•
•
•
•
|
Interaction Experiment |
Description: |
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. |
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•
•
•
•
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Publication |
First Author: |
Lv K |
Year: |
2021 |
Journal: |
Cell Stem Cell |
Title: |
HectD1 controls hematopoietic stem cell regeneration by coordinating ribosome assembly and protein synthesis. |
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•
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•
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•
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Publication |
First Author: |
Hesling C |
Year: |
2007 |
Journal: |
Exp Cell Res |
Title: |
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. |
Volume: |
313 |
Issue: |
20 |
Pages: |
4180-95 |
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•
•
•
•
•
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Publication |
First Author: |
GarcÃa-Márquez A |
Year: |
2015 |
Journal: |
J Biol Chem |
Title: |
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. |
Volume: |
290 |
Issue: |
29 |
Pages: |
17669-78 |
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•
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Protein Domain |
Type: |
Family |
Description: |
Shwachman-Bodian-Diamond syndrome (SDS) is an autosomal disorder with pancreatic, skeletal and bone marrow deficiencies and a predisposition to hematological dysfunction. The syndrome is associated with mutations in the SBDS gene, which encodes a protein that is required for biogenesis of the 60S ribosomal subunit and activation of the ribosome []. Maturation of the ribosomal 60S subunit requires SBDS and the GTPase EFL1, which release the anti-association factor eIF6 from the surface of the ribosomal subunit 60S []. In yeast, SBDS is known as Sdo1, which with the EF-2-like GTPase Ria1, may trigger the GTP-dependent release of Tif6 from 60S pre-ribosomes in the cytoplasm, thereby activating them [].This entry also includes Sdo1/SBDS related proteins, including Rtc3 from budding yeasts. The function of Rtc3 is not clear. |
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Publication |
First Author: |
Zhao Y |
Year: |
2021 |
Journal: |
J Biol Chem |
Title: |
Retinoic acid exerts sexually dimorphic effects on muscle energy metabolism and function. |
Volume: |
297 |
Issue: |
3 |
Pages: |
101101 |
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•
•
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•
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Publication |
First Author: |
Peters MJ |
Year: |
2022 |
Journal: |
Blood |
Title: |
Targeting a Putative Intronic Splicing Silencer Salvages Expression from the Recurrent SBDS C.258+2T>C Mutant Allele in Shwachman-Diamond Syndrome Patient Cells and Mouse Model. |
Volume: |
140 |
Issue: |
Suppl 1 |
Pages: |
29442945 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
43
 |
Fragment?: |
false |
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•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
173
 |
Fragment?: |
true |
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•
•
•
•
|
Publication |
First Author: |
Menne TF |
Year: |
2007 |
Journal: |
Nat Genet |
Title: |
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. |
Volume: |
39 |
Issue: |
4 |
Pages: |
486-95 |
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•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
250
 |
Fragment?: |
false |
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•
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