DVL1
Domain
The DIX domain promotes homooligomerization.
The DEP domain mediates interaction with the cell membrane.
Function
Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).
Involvement in disease
Robinow syndrome, autosomal dominant 2
DRS2
A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated; undergoes both 'Lys-48'-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and 'Lys-63'-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains (By similarity).
Sequence Similarities
Belongs to the DSH family.
Cellular localization
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cytosol
- Cytoplasmic vesicle
- Localizes at the cell membrane upon interaction with frizzled family members.
Alternative names
Segment polarity protein dishevelled homolog DVL-1, Dishevelled-1, DSH homolog 1, DVL1