DLG5
discs large MAGUK scaffold protein 5
- Ensembl:
- ENSG00000151208, ENSG00000274429
- UniProt:
- Q8TDM6
- OMIM:
- 604090
- Synonyms:
- KIAA0583, P-DLG
Cilia effects upon perturbation of DLG5
Ciliogenesis screen results (3 screens)
- Kim2016: Not Reported
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- embryonic growth retardation, spi bifida, hemorrhage, preweaning lethality, complete penetrance, abnormal craniofacial morphology, edema
- Mouse ciliopathy phenotype:
- microphthalmia, abnormal brain morphology, hydrocephaly
Subcellular localization
basal body
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- T cell biology
- Cell migration & adhesion
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Dlg5 interaction with Smo is specifically required for the activation of Gli but not for Smo-induced ciliary exit of Gpr161 and consequent suppression of Gli repressor formation. Smo activity thus bifurcates, with Dlg5 function restricted to the arm of the pathway that functions to activate Gli(PMID: 25644602).