Ribosome maturation protein SBDS (SBDS)
The protein contains 250 amino acids for an estimated molecular weight of 28764 Da.
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. (updated: Jan. 31, 2018)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
Biological Process
Bone marrow development
Bone mineralization
Cell population proliferation
Hematopoietic progenitor cell differentiation
Inner cell mass cell proliferation
Leukocyte chemotaxis
Mature ribosome assembly
Mitotic spindle organization
Ribosomal large subunit biogenesis
RRNA processing
Molecular Function
Microtubule binding
Poly(A) RNA binding
Ribosome binding
RNA binding
RRNA binding
The reference OMIM entry for this protein is 260400
Shwachman-diamond syndrome; sds
Pancreatic insufficiency and bone marrow dysfunction
Shwachman-bodian syndrome
Lipomatosis of pancreas, congenital
A number sign (#) is used with this entry because the Shwachman-Diamond syndrome, also known as the Shwachman-Bodian-Diamond syndrome, is caused by compound heterozygous or homozygous mutations in the SBDS gene (607444). Heterozygous mutations in the SBDS gene have been associated with predisposition to aplastic anemia (609135).
DESCRIPTION
Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002).CLINICAL FEATURES
Shwachman et al. (1964) described a syndrome of pancreatic insufficiency (suggesting cystic fibrosis of the pancreas but with normal sweat electrolytes and no respiratory difficulties) and pancytopenia. One sibship contained 2 affected brothers and an affected female. From the early paper of Bartholomew et al. (1959) it appears that so-called primary atrophy of the pancreas may be, in some instances, the same disorder and that manifestations may develop first after the fifth decade of life. The same syndrome was described by Nezelof and Watchi (1961) and later by other authors such as Pringle et al. (1968). Goldstein (1968) and others before him called this condition congenital lipomatosis of the pancreas. He described one affected fraternal twin girl. Affected sibs were referred to by Burke et al. (1967). Pringle et al. (1968) observed associated skeletal changes of the metaphyseal dysostosis type. These are of interest because of the digestive abnormalities (not yet well characterized) and hematologic changes in cartilage-hair hypoplasia (250250), a form of metaphyseal chondrodysplasia. The exocrine pancreas is replaced by fat, whereas the islets of Langerhans are normal. Although dwarfing is usually moderate and becomes apparent only after 1 or 2 years of life, Danks et al. (1976) described 2 pairs of brothers who showed neonatal respiratory distress, resembling that of Jeune syndrome (208500), due to abnormally short ribs. The true nature of the osseous disorder became clear in the second or third year of life. Susceptibility to infection was marked in 1 family and led to death of 1 of the brothers. Wulfeck et al. (1991), who referred to this disorder as Shwachman-Diamond syndrome, evaluated 2 affected sisters, aged 8 and 13 years, in whom the most prominent neurologic abnormality was global apraxia, which affected their motor skills. Generalized weakness and hypotonia were also observed. Mack et al. (1996) reviewed findings in 25 patients. Mean birth weight was at the 25th percentile; however, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Eleven patients with hypoplasia of all 3 bone marrow cellular lines had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogeneous leukemia (AML; 601626). Ginzberg et al. (1999) collected data from 116 families with Shwachman syndrome. In 88 patients (33 female, 55 male; median age, 5.2 years), their predetermined diagnostic criteria were fulfilled; 63 patients represented isolated cases, and 25 affected sibs were from 12 multiplex families. Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displaye ... More on the omim web site
Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 260400 was added.
Jan. 28, 2016: Protein entry updated
Automatic update: model status changed
Jan. 25, 2016: Protein entry updated
Automatic update: model status changed