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).