DLG5
Domain
The guanylate kinase-like domain interacts with the SH3 domain.
Function
Acts as a regulator of the Hippo signaling pathway (PubMed:28087714, PubMed:28169360). Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1 (PubMed:28087714). Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial-mesenchymal transition (EMT), cell migration and invasion (PubMed:28169360). Plays an important role in dendritic spine formation and synaptogenesis in cortical neurons; regulates synaptogenesis by enhancing the cell surface localization of N-cadherin. Acts as a positive regulator of hedgehog (Hh) signaling pathway. Plays a critical role in the early point of the SMO activity cycle by interacting with SMO at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).
Involvement in disease
Yuksel-Vogel-Bauer syndrome
YUVOB
An autosomal recessive disorder characterized by multisystemic manifestations including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MAGUK family.
Tissue Specificity
Highly expressed in normal breast tissues and low-grade breast cancer tissues (at protein level) (PubMed:28169360). Highly expressed in the placenta and prostate. Expressed at a lower level in the thyroid, spinal cord, trachea, adrenal gland, skeletal muscle, pancreas, heart, brain, liver and kidney. A short splice product shows more limited expression, being absent from at least the brain.
Cellular localization
- Cell junction
- Cell membrane
- Peripheral membrane protein
- Postsynaptic density
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Localized at sites of cell-cell contact.
Alternative names
KIAA0583, PDLG, DLG5, Disks large homolog 5, Discs large protein P-dlg, Placenta and prostate DLG