SBDS Gene - Ribosome Maturation Factor
SBDS Gene in Shwachman-Diamond Syndrome and Ribosome Biogenesis
Gene Information Card
| Symbol | SBDS |
|---|---|
| Full Name | SBDS ribosome maturation factor |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.21 |
| NCBI Gene ID | 51119 ncbi.nlm.nih.gov/gene/51119 |
| Ensembl ID | ENSG00000126524 |
| UniProt ID | Q9Y3A5 |
| OMIM ID | 607444 |
| HGNC ID | 10567 |
| Aliases | SDS, SWDS, Shwachman-Bodian-Diamond syndrome protein |
Description
The SBDS gene encodes a protein involved in ribosome biogenesis, specifically in the maturation of the 60S ribosomal subunit. It is essential for proper ribosome assembly and function. Mutations in SBDS cause Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow failure, skeletal abnormalities, and predisposition to leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Shwachman-Diamond syndrome | Loss-of-function mutations impair ribosome maturation, leading to defective hematopoiesis and pancreatic development | OMIM #260400; ClinVar pathogenic variants |
| Myelodysplastic syndrome (MDS) in SDS patients | Somatic mutations or clonal evolution in SBDS-mutant hematopoietic cells | COSMIC; literature |
| Acute myeloid leukemia (AML) in SDS patients | Additional genetic hits (e.g., TP53) in SBDS-deficient bone marrow | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lymph node | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.0 | Myeloid cell line |
| HeLa (cervical cancer) | 11.2 | Epithelial cell line |
| HEK293 (embryonic kidney) | 10.5 | Transformed cell line |
| HepG2 (liver cancer) | 7.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.183_184delCT (p.Tyr61Ter) | Frameshift / nonsense | Common (SDS) | Loss of function; premature stop codon |
| c.258+2T>C (IVS2+2T>C) | Splice site | Common (SDS) | Aberrant splicing; loss of function |
| c.97A>G (p.Lys35Glu) | Missense | Rare | Reduced protein stability |
| c.292C>T (p.Arg98Ter) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of SBDS mutations are loss-of-function, leading to reduced or absent protein, impaired ribosome maturation, and cellular stress.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • Ribosome biogenesis (GO:0042254) | • Maturation of LSU-rRNA (GO:0000470) |
| • Ribosomal large subunit assembly (GO:0000027) | • Nucleolus (GO:0005730) |
| • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
The SBDS protein (UniProt Q9Y3A5) is a 250-amino-acid protein localized to the nucleolus. It participates in the late stages of 60S ribosomal subunit maturation by facilitating the release of the nuclear export factor NMD3 and promoting cytoplasmic subunit joining. The protein contains a conserved FYSH domain and interacts with EFL1 (elongation factor-like GTPase 1) to catalyze GTP-dependent remodeling of the pre-60S particle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SBDS Knockout HEK293 Cell Line | EDJ-KQ51282 | Human | 51119 | Details Get a Quote |
| SBDS Knockout HeLa Cell Line | EDJ-KQ56230 | Human | 51119 | Details Get a Quote |
| SBDS Knockout A-549 Cell Line | EDJ-KQ64720 | Human | 51119 | Details Get a Quote |
| SBDS Knockout HCT 116 Cell Line | EDJ-KQ73165 | Human | 51119 | Details Get a Quote |
