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Search results 101 to 200 out of 200 for Sbds

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Type Details Score
GXD Expression
GXD Expression
   
Probe: MGI:5828188
Assay Type: RNA in situ
Annotation Date: 2017-03-10
Strength: Strong
Sex: Female
Emaps: EMAPS:3562728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:5828189
Age: postnatal adult
Specimen Label: 2C
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
   
Probe: MGI:5828188
Assay Type: RNA in situ
Annotation Date: 2017-03-10
Strength: Strong
Sex: Female
Emaps: EMAPS:3562728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:5828189
Age: postnatal adult
Specimen Label: 2L
Detected: true
Specimen Num: 8
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Publication
26057580 | J:224762
First Author: Tourlakis ME
Year: 2015
Journal: PLoS Genet
Title: In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
Volume: 11
Issue: 6
Pages: e1005288
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Publication
17332066 | J:129602
First Author: O'Shaughnessy PJ
Year: 2007
Journal: Endocrinology
Title: Altered expression of genes involved in regulation of vitamin A metabolism, solute transportation, and cytoskeletal function in the androgen-insensitive tfm mouse testis.
Volume: 148
Issue: 6
Pages: 2914-24
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Publication
- | J:80001
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: FANTOM2 Data Curation in Mouse Genome Informatics
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Publication
20059953 | J:156017
First Author: Yokoyama S
Year: 2009
Journal: Dev Cell
Title: A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.
Volume: 17
Issue: 6
Pages: 836-48
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Publication
- | J:136110
     
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
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Publication
- | J:155845
     
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:144087
     
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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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155721
     
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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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144086
     
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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UniProt Feature
UniProt Feature
Begin: 2
Description: Ribosome maturation protein SBDS
Type: chain
End: 250
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Gene
114673042 | LOC114673042
Type: gene
Organism: macaque, rhesus
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Protein
D6REV5
Organism: Mus musculus/domesticus
Length: 43  
Fragment?: false
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Protein
F6TN03
Organism: Mus musculus/domesticus
Length: 173  
Fragment?: true
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Protein
P70122
Organism: Mus musculus/domesticus
Length: 250  
Fragment?: false
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Gene
100049749 | sbds.S
Type: gene
Organism: frog, African clawed
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Gene
108708339 | sbds.L
Type: gene
Organism: frog, African clawed
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Allele
Sbds<em1(SBDS*)Dbau> | MGI:7484403
Name: SBDS ribosome maturation factor; endonuclease-mediated mutation 1, Daniel E. Bauer
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence, Hypomorph
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Publication
12496757 | -
First Author: Boocock GR
Year: 2003
Journal: Nat Genet
Title: Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Volume: 33
Issue: 1
Pages: 97-101
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Strain
MGI:7485959 | C57BL/6J-Sbds<em1(SBDS*)Dbau>/Dbau
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Genotype
Genotype
Symbol: Sbds/Sbds
Background: C57BL/6J-Sbds/Dbau
Zygosity: hm
Has Mutant Allele: true
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Allele
Sbds<+> | MGI:3049504
   
Name: SBDS ribosome maturation factor; wild type
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Publication
15701631 | -
First Author: Shammas C
Year: 2005
Journal: J Biol Chem
Title: Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Volume: 280
Issue: 19
Pages: 19221-9
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Allele
Sbds<tm1.1Aljw> | MGI:5007535
Name: SBDS ribosome maturation factor; targeted mutation 1.1, Alan J Warren
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Sbds<tm3.1Jrom> | MGI:5446043
Name: SBDS ribosome maturation factor; targeted mutation 3.1, Johanna M Rommens
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Allele
Sbds<tm1Jrom> | MGI:3664792
Name: SBDS ribosome maturation factor; targeted mutation 1, Johanna M Rommens
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Sbds<tm1(KOMP)Vlcg> | MGI:5051585
Name: SBDS ribosome maturation factor; targeted mutation 1, Velocigene
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Sbds<tm1Aljw> | MGI:5007534
Name: SBDS ribosome maturation factor; targeted mutation 1, Alan J Warren
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Allele
Sbds<Gt(OST266500)Lex> | MGI:4257093
 
Name: SBDS ribosome maturation factor; gene trap OST266500, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Sbds<tm1Dats> | MGI:4452398
Name: SBDS ribosome maturation factor; targeted mutation 1, David T Scadden
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Allele
Sbds<Gt(OST191993)Lex> | MGI:4224206
 
Name: SBDS ribosome maturation factor; gene trap OST191993, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Sbds<tm2.1Jrom> | MGI:5446042
Name: SBDS ribosome maturation factor; targeted mutation 2.1, Johanna M Rommens
Allele Type: Targeted
Attribute String: Humanized sequence, Hypomorph, Modified isoform(s)
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Allele
Sbds<Gt(OST429011)Lex> | MGI:4313984
 
Name: SBDS ribosome maturation factor; gene trap OST429011, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Sbds<Gt(OST378468)Lex> | MGI:4300019
 
Name: SBDS ribosome maturation factor; gene trap OST378468, Lexicon Genetics
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13531E9)Tigm> | MGI:5173390
 
Name: SBDS ribosome maturation factor; gene trap IST13531E9, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13760B2)Tigm> | MGI:5191203
 
Name: SBDS ribosome maturation factor; gene trap IST13760B2, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(EUCE00114c03)Hmgu> | MGI:4391497
 
Name: SBDS ribosome maturation factor; gene trap EUCE00114c03, Helmholtz Zentrum Muenchen GmbH
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13796D1)Tigm> | MGI:5187743
 
Name: SBDS ribosome maturation factor; gene trap IST13796D1, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST14035G3)Tigm> | MGI:5208865
 
Name: SBDS ribosome maturation factor; gene trap IST14035G3, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13268B12)Tigm> | MGI:5161098
 
Name: SBDS ribosome maturation factor; gene trap IST13268B12, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<tm1e(EUCOMM)Wtsi> | MGI:4433581
Name: SBDS ribosome maturation factor; targeted mutation 1e, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Sbds<Gt(IST12330D3)Tigm> | MGI:4065632
 
Name: SBDS ribosome maturation factor; gene trap IST12330D3, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<tm1a(EUCOMM)Wtsi> | MGI:4433022
Name: SBDS ribosome maturation factor; targeted mutation 1a, Wellcome Trust Sanger Institute
Allele Type: Targeted
Attribute String: Conditional ready, Null/knockout, Reporter
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Allele
Sbds<Gt(IST13444H12)Tigm> | MGI:5169525
 
Name: SBDS ribosome maturation factor; gene trap IST13444H12, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13832H2)Tigm> | MGI:5186930
 
Name: SBDS ribosome maturation factor; gene trap IST13832H2, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(538D1)Cmhd> | MGI:4956288
 
Name: SBDS ribosome maturation factor; gene trap 538D1, Centre for Modeling Human Disease
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST13750D2)Tigm> | MGI:5188984
 
Name: SBDS ribosome maturation factor; gene trap IST13750D2, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Allele
Sbds<Gt(IST14059G2)Tigm> | MGI:5204437
 
Name: SBDS ribosome maturation factor; gene trap IST14059G2, Texas A&M Institute for Genomic Medicine
Allele Type: Gene trapped
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Genotype
Genotype
Symbol: Sbds/Sbds
Background: involves: 129S6/SvEvTac * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds
Background: involves: BALB/cJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds<+>
Background: involves: 129S6/SvEvTac * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/?
Background: involves: C57BL/6 * CD-1
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds Tg(Mx1-cre)1Cgn/?
Background: involves: BALB/cJ * C57BL/6 * DBA
Zygosity: cn
Has Mutant Allele: true
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Publication
17643419 | -
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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Publication
25991726 | -
First Author: García-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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Protein Domain
IPR039100 | Sdo1/SBDS-like
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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Genotype
Genotype
Symbol: Sbds/Sbds Ptf1a/Ptf1a<+>
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Sbds/Sbds Ptf1a/Ptf1a<+>
Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
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Publication
23831625 | -
First Author: Gijsbers A
Year: 2013
Journal: Biochem Biophys Res Commun
Title: Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
Volume: 437
Issue: 3
Pages: 349-54
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Protein Domain
IPR002140 | Sdo1/SBDS
Type: Family
Description: The proteins in this entry are highly conserved in species ranging from archaea to vertebrates and plants []. The family contains several Shwachman-Bodian-Diamond syndrome (SBDS, OMIM 260400) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition []. SBDS is required for the assembly of mature ribosomes and ribosome biogenesis [].Homologue of SBDS from budding yeast is known as Sdo1, which is a guanine nucleotide exchange factor (GEF) involved in ribosome maturation. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, allowing the assembly of mature ribosomes [].
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Publication
17353896 | -
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 Domain
IPR018978 | SDO1/SBDS_central
Type: Domain
Description: This entry represents the central domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants []. This entry contains several Shwachman-Bodian-Diamond syndrome (SBDS) proteins from both mouse and humans. Shwachman-Diamond syndrome (OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition.Members of this entry play a role in RNA metabolism [, ]. In yeast, SBDS orthologue SDO1 is involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating TIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [].The SBDS protein is composed of three domains. The N-terminal (FYSH, ) domain is the most frequent target for disease mutations and contains a novel mixed α/β-fold, the central domain (represented in this entry) consists of a three-helical bundle and the C-terminal domain () has a ferredoxin-like fold [, ].
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Protein Domain
IPR046928 | SDO1/SBDS_C
Type: Domain
Description: This entry represents the C-terminal domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants []. This entry contains several Shwachman-Bodian-Diamond syndrome (SBDS) proteins from both mouse and humans. Shwachman-Diamond syndrome (OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition.Members of this entry play a role in RNA metabolism [, ]. In yeast, SBDS orthologue SDO1 is involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating TIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [].The SBDS protein is composed of three domains. The N-terminal (FYSH, ) domain is the most frequent target for disease mutations and contains a novel mixed α/β-fold, the central domain () consists of a three-helical bundle and the C-terminal domain (represented in this entry) has a ferredoxin-like fold [, ].
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Protein Domain
IPR019783 | SDO1/SBDS_N
Type: Domain
Description: This entry represents the N-terminal domain of proteins that are highly conserved in species ranging from archaea to vertebrates and plants [], including several Shwachman-Bodian-Diamond syndrome (SBDS, OMIM 260400) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition.Members of this entry play a role in RNA metabolism [, ]. In yeast, SBDS orthologue SDO1 is involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating TIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [].The SBDS protein is composed of three domains. The N-terminal domain (FYSH, represented in this entry) is the most frequent target for disease mutations and contains a novel mixed α/β-fold, the central domain () consists of a three-helical bundle and the C-terminal domain () has a ferredoxin-like fold [, ].
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Publication
35322020 | J:337804
First Author: Jaako P
Year: 2022
Journal: Nat Commun
Title: eIF6 rebinding dynamically couples ribosome maturation and translation.
Volume: 13
Issue: 1
Pages: 1562
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Publication
15701634 | -
First Author: Savchenko A
Year: 2005
Journal: J Biol Chem
Title: The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.
Volume: 280
Issue: 19
Pages: 19213-20
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Publication
26391622 | J:232943
First Author: Ricciardi S
Year: 2015
Journal: J Thromb Haemost
Title: Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation.
Volume: 13
Issue: 11
Pages: 2108-18
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Publication
28622305 | J:276266
First Author: Zingariello M
Year: 2017
Journal: Blood Cancer J
Title: The thrombopoietin/MPL axis is activated in the Gata1low mouse model of myelofibrosis and is associated with a defective RPS14 signature.
Volume: 7
Issue: 6
Pages: e572
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Publication
34115847 | J:315678
First Author: Lee S
Year: 2021
Journal: Blood
Title: Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Volume: 138
Issue: 21
Pages: 2117-2128
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Publication
38079449 | J:343606
First Author: Francis RJB
Year: 2023
Journal: PLoS Biol
Title: Autonomous and non-cell autonomous role of cilia in structural birth defects in mice.
Volume: 21
Issue: 12
Pages: e3002425
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Protein Domain
IPR037188 | Sdo1/SBDS_central_sf
Type: Homologous_superfamily
Description: Proteins containing this domain are highly conserved in species ranging from archaea to vertebrates and plants [], including several Shwachman-Bodian-Diamond syndrome (SBDS, OMIM 260400) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition. Members of this superfamily play a role in RNA metabolism [, ]. In yeast Sdo1 is involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating TIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. This data links defective late 60S subunit maturation to an inherited bone marrow failure syndrome associated with leukemia predisposition [].The SBDS protein is composed of three domains. The N-terminal (FYSH) domain is the most frequent target for disease mutations and contains a novel mixed alpha/β-fold, the central domain, represented in this entry, consists of a three-helical bundle and the C-terminal domain has a ferredoxin-like fold [, ].
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Publication
15489334 | -
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7
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Publication
21183079 | J:292518
First Author: Huttlin EL
Year: 2010
Journal: Cell
Title: A tissue-specific atlas of mouse protein phosphorylation and expression.
Volume: 143
Issue: 7
Pages: 1174-89
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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