SBDS
Summary: This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SBDS, ribosome maturation factor | MIM:607444 | Ensembl:ENSG00000126524 | HGNC:HGNC:19440 | PA134978742 | 7q11.21 |
GO terms in SBDS
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008017 | microtubule binding |
| MF | IDA | GO:0019843 | rRNA binding |
| MF | IDA | GO:0043022 | ribosome binding |
| BP | IEA | GO:0001833 | inner cell mass cell proliferation |
| BP | IMP | GO:0006364 | rRNA processing |
| BP | IDA | GO:0007052 | mitotic spindle organization |
| BP | IMP | GO:0008283 | cell proliferation |
| BP | IMP | GO:0030282 | bone mineralization |
| BP | IDA | GO:0030595 | leukocyte chemotaxis |
| BP | IDA | GO:0042256 | mature ribosome assembly |
| BP | IMP | GO:0048539 | bone marrow development |
| CC | IDA | GO:0000922 | spindle pole |
| CC | IDA | GO:0005634 | nucleus |
| CC | IEA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
Gene expression in normal tissue: SBDS
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SBDS
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03008 | Ribosome biogenesis in eukaryotes - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SBDS
CLASSFICATION
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