| Standard Name | SDO1 1 |
|---|---|
| Systematic Name | YLR022C |
| Feature Type | ORF, Verified |
| Description | Essential protein involved in ribosome maturation; with Ria1p, promotes release of Tif6p from 60S ribosomal subunits in the cytoplasm so that they can assemble with 40S subunits to generate mature ribosomes; ortholog of the human protein (SBDS) responsible for autosomal recessive Shwachman-Bodian-Diamond Syndrome; highly conserved across archaea and eukaryotes (1, 2, 3, 4, 5 and see Summary Paragraph) |
| Chromosomal Location | |
|---|---|
| Note: this feature is encoded on the Crick strand. | |
| View Computational GO annotations for SDO1 | |
| Molecular Function | |
| Manually curated |
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| Biological Process | |
| Manually curated | |
| Cellular Component | |
| Manually curated | |
| High-throughput |
| Classical genetics | |
|---|---|
| null | |
| Large-scale survey | |
| null | |
| reduction of function | |
| unspecified | |
| Resources |
| 50 total interaction(s) for 45 unique genes/features. | |
| Physical Interactions |
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| Genetic Interactions |
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| Resources |
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| Resources |
| Localization | |
|---|---|
| Phosphorylation | PhosphoGRID | PhosphoPep Database |
| Structure | |
| Homologs |
| Note: this feature is encoded on the Crick strand. | |||||||||||||
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| Last Update | Coordinates: 2011-02-03 | Sequence: 1996-07-31 | ||||||||||||
| Subfeature details |
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| S288C only | |
|---|---|
| S288C vs. other species | |
| S288C vs. other strains |
| External Links | All Associated Seq | Entrez Gene | Entrez RefSeq Protein | MIPS | Search all NCBI (Entrez) | UniProtKB |
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| Primary SGDID | S000004012 |
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SDO1 encodes a
Sdo1p is highly conserved among archae and eukaryotes (4). Mutations in the human ortholog, SBDS, cause Shwachman-Diamond syndrome (aka Shwachman-Bodian-Diamond syndrome), an autosomal recessive disease characterized by pancreatic insufficiency, skeletal abnormalities, bone marrow failure and a predisposition to leukemia. Another S. cerevisiae protein, YHR087W, contains the same unusual structural domain found in SBDS and orthologs, but does not display similarity beyond this domain (2 and 3).
The sdo1 deletion mutant has been variously reported both as inviable (6) and as having a slow-growth phenotype (1).
| 1) | Menne TF, et al. (2007) The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 39(4):486-95 |
| 2) | Shammas C, et al. (2005) Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. J Biol Chem 280(19):19221-9 |
| 3) | Savchenko A, et al. (2005) The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem 280(19):19213-20 |
| 4) | Boocock GR, et al. (2006) Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics 87(6):758-71 |
| 5) | Finch AJ, et al. (2011) Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev 25(9):917-29 |
| 6) | Winzeler EA, et al. (1999) Functional characterization of the S. cerevisiae genome by gene deletion and parallel analysis. Science 285(5429):901-6 |






