ADGRL1
Domain
The extracellular domain coupled to the a single transmembrane region are sufficient for full responsiveness to alpha-latrotoxin.
Function
Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells (PubMed:35907405). Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity).
Involvement in disease
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
DEDBANP
An autosomal dominant disorder characterized by mild global developmental delay, normal or variably impaired intellectual development, and behavioral or neuropsychiatric disorders, including autism spectrum disorder, attention deficit-hyperactivity disorder, and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autoproteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. This proteolytic processing takes place early in the biosynthetic pathway, either in the endoplasmic reticulum or in the early compartment of the Golgi apparatus (By similarity).
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell projection
- Axon
- Cell projection
- Growth cone
- Synapse
- Presynaptic cell membrane
- Synapse
- Synaptosome
- Colocalizes with TENM2 on the cell surface, across intercellular junctions and on nerve terminals near synaptic clefts.
Alternative names
KIAA0821, LEC2, LPHN1, ADGRL1, Adhesion G protein-coupled receptor L1, Calcium-independent alpha-latrotoxin receptor 1, Latrophilin-1, Lectomedin-2, CIRL-1