MOSMO

Protein smoothened UniProt accession Q99835

G protein-coupled receptor which associates with the patched protein (PTCH) to transduce hedgehog protein signaling. Binding of sonic hedgehog (SHH) to its receptor patched prevents inhibition of smoothened (SMO) by patched. When active, SMO binds to and sequesters protein kinase A catalytic subunit PRKACA at the cell membrane, preventing PRKACA-mediated phosphorylation of GLI transcription factors which releases the GLI proteins from PRKACA-mediated inhibition and allows for transcriptional activation of hedgehog pathway target genes (By similarity).

Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity)

Source: UniProt

Homodimer (PubMed:23636324). Interacts (via C-terminus) with protein kinase A catalytic subunit PRKACA; interacts with free PRKACA subunits and the interaction leads to sequestration of PRKACA at the membrane, preventing PRKACA-mediated phosphorylation of GLI transcription factors (By similarity). Interacts with ARRB2 (By similarity).

Interacts with KIF7 (PubMed:19592253). Interacts with BBS5 and BBS7; the interactions are indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO (PubMed:22072986). Interacts with DLG5 and SDCBP (By similarity).

Interacts with DRC4 (PubMed:21659505)

Source: UniProt
Cell membrane — Multi-pass membrane protein, Cell projection, cilium
Source: UniProt

The N-terminal extracellular domain mediates sterol-binding which is required for maximal activation of signaling (PubMed:24859340). Contains a second sterol-binding site within the seven-transmembrane pocket which is also required for activation (By similarity). The activating sterol is likely to be cholesterol (PubMed:35658032).

The extracellular site is required for SHH-induced activity while the site within the transmembrane pocket regulates basal signaling in the absence of SHH (PubMed:35658032)

Source: UniProt
  • Curry-Jones syndrome (CRJS)

    A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.

Source: UniProt
  • Class B/2 (Secretin family receptors)
  • Hedgehog 'off' state
  • BBSome-mediated cargo-targeting to cilium
  • Hedgehog 'on' state
  • Activation of SMO
Source: Reactome via UniProt

Mutations

No mutation information available.

Synthetic Lethal Network

Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to MOSMO, aggregated across our SSL data sources. Click any partner node to view that gene’s page.

Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.

BioGRID SLOrth SynLethDB MexDrugs Multi-source
Sources: BioGRID, SLOrth, SynLethDB, MexDrugs

Clinical Trials

Total Trials Found: 28

NCT ID Condition Brief Title Phase Status
NCT02226172 Primary Myelofibrosis; Post-polycythemia Vera Myelofibrosis; Post-essential Thrombocythemia Myelofibrosis Single-Agent Glasdegib In Patients With Myelofibrosis Previously Treated With Ruxolitinib PHASE2 TERMINATED
NCT03434262 Anaplastic Astrocytoma, Anaplastic Ependymoma, Anaplastic Ganglioglioma, Anaplastic Meningioma, Anaplastic Oligodendroglioma, Pleomorphic Xanthoastrocytoma, Anaplastic, Atypical Teratoid/Rhabdoid Tumor, Brain Cancer, Brain Tumor, Central Nervous System Neoplasms, Choroid Plexus Carcinoma, CNS Embryonal Tumor With Rhabdoid Features, Ganglioneuroblastoma of Central Nervous System, CNS Tumor, Embryonal Tumor of CNS, Ependymoma, Glioblastoma, Glioma, Glioma, Malignant, Medulloblastoma, Medulloblastoma; Unspecified Site, Medulloepithelioma, Neuroepithelial Tumor, Neoplasms, Neoplasms, Neuroepithelial, Papillary Tumor of the Pineal Region (High-grade Only), Pediatric Brain Tumor, Pineal Parenchymal Tumor of Intermediate Differentiation (High-grade Only), Pineoblastoma, Primitive Neuroectodermal Tumor, Recurrent Medulloblastoma, Refractory Brain Tumor, Neuroblastoma. CNS, Glioblastoma, IDH-mutant, Glioblastoma, IDH-wildtype, Medulloblastoma, Group 3, Medulloblastoma, Group 4, Glioma, High Grade, Neuroepithelial Tumor, High Grade, Medulloblastoma, SHH-activated and TP53 Mutant, Medulloblastoma, SHH-activated and TP53 Wildtype, Medulloblastoma, Chromosome 9q Loss, Medulloblastoma, Non-WNT Non-SHH, NOS, Medulloblastoma, Non-WNT/Non-SHH, Medulloblastoma, PTCH1 Mutation, Medulloblastoma, WNT-activated, Ependymoma, Recurrent, Glioma, Recurrent High Grade, Glioma, Recurrent Malignant, Embryonal Tumor, NOS, Glioma, Diffuse Midline, H3K27M-mutant, Embryonal Tumor With Multilayered Rosettes (ETMR), Ependymoma, NOS, WHO Grade III, Ependymoma, NOS, WHO Grade II, Medulloblastoma, G3/G4, Ependymoma, RELA Fusion Positive SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors PHASE1 COMPLETED
NCT02323139 MDS A Study of LDE255 in Combination With Azacitidine for High Risk Myelodysplastic Syndrome Patients PHASE1 COMPLETED
NCT02002689 PTCH1 or SMO Activated Solid and Hematologic Tumors LDE225 for Patients With PTCH1 or SMO Mutated Tumors PHASE2 TERMINATED
NCT02523014 Intracranial Meningioma, Recurrent Meningioma, NF2 Gene Mutation Vismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas PHASE2 RECRUITING
NCT01529450 Basal Cell Carcinoma Pilot LDE225 in Locally Advanced or Metastatic BCC + Previously Tx Non-LDE225 Smoothened Inhibitors NA COMPLETED
NCT00670189 Hedgehog Pathway, Smoothened, Basal Cell Carcinoma (BCC), Basal Cell Nevoid Syndrome (BCNS) A Phase 1 Study of BMS-833923 (XL139) in Subjects With Advanced or Metastatic Cancer PHASE1 COMPLETED
NCT01787552 Primary Myelofibrosis, Thrombocytosis, Essential Thrombocythemia, Polycythemia Vera, Myeloproliferative Disorders, Bone Marrow Diseases, Hematologic Diseases, Blood Coagulation Disorders, Blood Platelet Disorders, Hemorrhagic Disorders A Phase Ib/II Dose-finding Study to Assess the Safety and Efficacy of LDE225 + INC424 in Patients With MF PHASE1, PHASE2 COMPLETED
NCT00961896 Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients PHASE2 COMPLETED
NCT01071564 Estrogen Receptor Negative, HER2/Neu Negative, Progesterone Receptor Negative, Recurrent Breast Carcinoma, Stage IIIB Breast Cancer, Stage IIIC Breast Cancer, Stage IV Breast Cancer, Triple-Negative Breast Carcinoma RO4929097 and Vismodegib in Treating Patients With Breast Cancer That is Metastatic or Cannot Be Removed By Surgery PHASE1 TERMINATED