| 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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•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
targeted mutation, mutant stock |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Interaction Experiment |
| Description: |
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. |
|
•
•
•
•
•
|
| 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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|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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. |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
43
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
173
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
250
 |
| Fragment?: |
false |
|
•
•
•
•
•
|