Harmonizome 3.0

Shwachman-Bodian-Diamond syndrome

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]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term sbds in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for SBDS from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the SBDS gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the SBDS gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosome maturation protein SBDS protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosome maturation protein SBDS, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosome maturation protein SBDS, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosome maturation protein SBDS, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.