| Gene Symbol |
SBDS
|
| Entrez Gene |
51119
|
| Alt Symbol |
CGI-97, SDS, SWDS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Shwachman-Bodian-Diamond syndrome
|
| Other Description |
ribosome maturation protein SBDS
|
| Swissprots |
Q9NV53 A8K0P4 Q9Y3A5 Q96FX0
|
| Accessions |
CAG17753 EAX07906 Q9Y3A5 AF151855 AAD34092 AK001779 BAA91905 AK289609 BAF82298 AY169963 AAN77490 BC065700 AAH65700 HQ447454 ADQ31940 NM_016038 NP_057122
|
| Function |
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, 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. {ECO:0000269|PubMed:17643419, ECO:0000269|PubMed:19602484, ECO:0000269|PubMed:19759903, ECO:0000269|PubMed:21536732}.
|
| Subcellular Location |
Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903). {ECO:0000269|PubMed:19759903}.
|
| Tissue Specificity |
Widely expressed.
|
| Top Pathways |
Ribosome biogenesis in eukaryotes
|
![Western Blot: Shwachman Bodian-Diamond syndrome Overexpression Lysate (Adult Normal) [NBL1-15704] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Shwachman Bodian-Diamond syndrome.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/5090_Shwachman%2520Bodian-Diamond%2520syndrome%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-15704-img0002.jpg)