ADGRL1

Chr 19AD

adhesion G protein-coupled receptor L1

Also known as: CIRL1, CL1, DEDBANP, LEC2, LPHN1

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]

Primary Disease Associations & Inheritance

Developmental delay, behavioral abnormalities, and neuropsychiatric disordersMIM #620065
AD
0
Active trials
10
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.19
LOEUF· LoF intol.
Mechanism
Clinical SummaryADGRL1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.19LOEUF
pLI 1.000
Z-score 6.99
OE 0.10 (0.060.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.43Z-score
OE missense 0.68 (0.640.73)
640 obs / 934.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.10 (0.060.19)
00.351.4
Missense OE0.68 (0.640.73)
00.61.4
Synonymous OE1.11
01.21.6
LoF obs/exp: 7 / 70.3Missense obs/exp: 640 / 934.8Syn Z: -1.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADGRL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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