ADGRL1 Chromosome 19
Adhesion G protein-coupled receptor L1
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What This Gene Does
This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily L|Olfactomedin domain containing "
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000072071
Associated Conditions (10)
Inborn genetic diseases
Intellectual disability
Global developmental delay
Developmental delay
behavioral abnormalities
and neuropsychiatric disorders
Autistic behavior
Attention deficit hyperactivity disorder
Seizure
Specific learning disability
Key Variants
RS371446452
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1395589626
Likely pathogenic
Intellectual disability, Global developmental delay, Intellectual disability
Health Risk
RS1437118731
Likely pathogenic
Health Risk
RS1971372172
Likely pathogenic
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
Health Risk
RS2513043216
Likely pathogenic
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
Health Risk
RS2144613361
Pathogenic
Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior
Health Risk
RS2144613733
Pathogenic
Global developmental delay, Developmental delay, behavioral abnormalities
Health Risk
RS2144616263
Pathogenic
Global developmental delay, Specific learning disability, Global developmental delay
Health Risk
RS2144666888
Pathogenic
Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior
Health Risk
RS2144699293
Pathogenic
Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior
Health Risk
RS2144755046
Pathogenic
Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior
Health Risk
RS2512732542
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371446452 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1395589626 | Health Risk | Likely pathogenic | Intellectual disability, Global developmental delay, Intellectual disability |
| RS1437118731 | Health Risk | Likely pathogenic | — |
| RS1971372172 | Health Risk | Likely pathogenic | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
| RS2513043216 | Health Risk | Likely pathogenic | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
| RS2144613361 | Health Risk | Pathogenic | Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior |
| RS2144613733 | Health Risk | Pathogenic | Global developmental delay, Developmental delay, behavioral abnormalities |
| RS2144616263 | Health Risk | Pathogenic | Global developmental delay, Specific learning disability, Global developmental delay |
| RS2144666888 | Health Risk | Pathogenic | Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior |
| RS2144699293 | Health Risk | Pathogenic | Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior |
| RS2144755046 | Health Risk | Pathogenic | Attention deficit hyperactivity disorder, Global developmental delay, Autistic behavior |
| RS2512732542 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512766503 | Health Risk | Pathogenic | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
| RS2512827446 | Health Risk | Pathogenic | Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
| RS2512937290 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS781100862 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS907174700 | Health Risk | Pathogenic | Global developmental delay, Specific learning disability, Intellectual disability |