ADGRL1
Adhesion G Protein-Coupled Receptor L1
Gene Information Card
| Symbol | ADGRL1 |
|---|---|
| Full Name | Adhesion G Protein-Coupled Receptor L1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 22859 ncbi.nlm.nih.gov/gene/22859 |
| Ensembl ID | ENSG00000172062 |
| UniProt ID | O94910 |
| OMIM ID | 616416 |
| HGNC ID | 21245 |
| Aliases | LPHN1, CIRL1, CL1, LEC2 |
Description
ADGRL1 (Adhesion G Protein-Coupled Receptor L1), also known as latrophilin 1, is a member of the adhesion GPCR family. It functions as a receptor for α-latrotoxin and is involved in cell adhesion, synaptic signaling, and exocytosis. The gene is expressed in the brain and other tissues, and mutations have been linked to neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and autistic features | Loss-of-function mutations impair synaptic adhesion and signaling | ClinVar, PMID: 29500156 |
| Intellectual disability | Missense variants disrupt receptor activation | ClinVar, PMID: 30302876 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 4.8 | Medium |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.5 | Neuronal cell line |
| HEK293 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2053C>T (p.Arg685*) | Nonsense | Rare | Loss of function |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired receptor trafficking |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • cell adhesion |
| • calcium ion binding | • synaptic signaling |
| • plasma membrane |
Pathways
• Adhesion GPCR signaling
• α-latrotoxin pathway
Protein Summary
Latrophilin 1 is a 1471-amino acid adhesion GPCR with a large extracellular domain containing lectin-like, olfactomedin-like, and hormone receptor motifs. It mediates cell-cell adhesion and couples to G proteins to modulate neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADGRL1 Knockout HEK293 Cell Line | EDJ-KQ7712 | Human | 22859 | Details Get a Quote |
| ADGRL1 Knockout A-549 Cell Line | EDJ-KQ33109 | Human | 22859 | Details Get a Quote |
| ADGRL1 Knockout HCT 116 Cell Line | EDJ-KQ33110 | Human | 22859 | Details Get a Quote |
| ADGRL1 Knockout HeLa Cell Line | EDJ-KQ33111 | Human | 22859 | Details Get a Quote |
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