Gene Gene information from NCBI Gene database.
Entrez ID 22859
Gene name Adhesion G protein-coupled receptor L1
Gene symbol ADGRL1
Synonyms (NCBI Gene)
CIRL1CL1DEDBANPLEC2LPHN1
Chromosome 19
Chromosome location 19p13.12
Summary 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 cystein
miRNA miRNA information provided by mirtarbase database.
148
miRTarBase ID miRNA Experiments Reference
MIRT740408 hsa-miR-532-3p HITS-CLIP 19536157
MIRT740409 hsa-miR-1224-3p HITS-CLIP 19536157
MIRT740410 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT740411 hsa-miR-2276-5p HITS-CLIP 19536157
MIRT740412 hsa-miR-150-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity TAS 15203201
GO:0005515 Function Protein binding IPI 21078624
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616416 20973 ENSG00000072071
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94910
Protein name Adhesion G protein-coupled receptor L1 (Calcium-independent alpha-latrotoxin receptor 1) (CIRL-1) (Latrophilin-1) (Lectomedin-2)
Protein 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 m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02140 Gal_Lectin 48 128 Galactose binding lectin domain Domain
PF02191 OLF 144 396 Olfactomedin-like domain Family
PF02793 HRM 477 535 Hormone receptor domain Family
PF16489 GAIN 549 774 GPCR-Autoproteolysis INducing (GAIN) domain Domain
PF01825 GPS 800 844 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 857 1093 7 transmembrane receptor (Secretin family) Family
PF02354 Latrophilin 1113 1474 Latrophilin Cytoplasmic C-terminal region Family
Sequence
MARLAAVLWNLCVTAVLVTSATQGLSRAGLPFGLMRRELACEGYPIELRCPGSDVIMVEN
ANYGRTDDKICDADPFQMENVQCYLPDAFKIMSQRCNNRTQCVVVAGSDAFPDPCPGTYK
YLEVQYDC
VPYKVEQKVFVCPGTLQKVLEPTSTHESEHQSGAWCKDPLQAGDRIYVMPWI
PYRTDTLTEYASWEDYVAARHTTTYRLPNRVDGTGFVVYDGAVFYNKERTRNIVKYDLRT
RIKSGETVINTANYHDTSPYRWGGKTDIDLAVDENGLWVIYATEGNNGRLVVSQLNPYTL
RFEGTWETGYDKRSASNAFMVCGVLYVLRSVYVDDDSEAAGNRVDYAFNTNANREEPVSL
TFPNPYQFISSVDYNPRDNQLYVWNNYFVVRYSLEF
GPPDPSAGPATSPPLSTTTTARPT
PLTSTASPAATTPLRRAPLTTHPVGAINQLGPDLPPATAPVPSTRRPPAPNLHVSPELFC
EPREVRRVQWPATQQGMLVERPCPKGTRGIASFQCLPALGLWNPRGPDLSNCTSP
WVNQV
AQKIKSGENAANIASELARHTRGSIYAGDVSSSVKLMEQLLDILDAQLQALRPIERESAG
KNYNKMHKRERTCKDYIKAVVETVDNLLRPEALESWKDMNATEQVHTATMLLDVLEEGAF
LLADNVREPARFLAAKENVVLEVTVLNTEGQVQELVFPQEEYPRKNSIQLSAKTIKQNSR
NGVVKVVFILYNNLGLFLSTENATVKLAGEAGPGGPGGASLVVNSQVIAASINK
ESSRVF
LMDPVIFTVAHLEDKNHFNANCSFWNYSERSMLGYWSTQGCRLVESNKTHTTCACSHLTN
FAVL
MAHREIYQGRINELLLSVITWVGIVISLVCLAICISTFCFLRGLQTDRNTIHKNLC
INLFLAELLFLVGIDKTQYEIACPIFAGLLHYFFLAAFSWLCLEGVHLYLLLVEVFESEY
SRTKYYYLGGYCFPALVVGIAAAIDYRSYGTEKACWLRVDNYFIWSFIGPVSFVIVVNLV
FLMVTLHKMIRSSSVLKPDSSRLDNIKSWALGAIALLFLLGLTWAFGLLFINKESVVMAY
LFTTFNAFQGVFI
FVFHCALQKKVHKEYSKCLRHSYCCIRSPPGGTHGSLKTSAMRSNTR
YYTGTQSRIRRMWNDTVRKQTESSFMAGDINSTPTLNRGTMGNHLLTNPVLQPRGGTSPY
NTLIAESVGFNPSSPPVFNSPGSYREPKHPLGGREACGMDTLPLNGNFNNSYSLRSGDFP
PGDGGPEPPRGRNLADAAAFEKMIISELVHNNLRGSSSAAKGPPPPEPPVPPVPGGGGEE
EAGGPGGADRAEIELLYKALEEPLLLPRAQSVLYQSDLDESESCTAEDGATSRPLSSPPG
RDSLYASGANLRDSPSYPDSSPEGPSEALPPPPPAPPGPPEIYYTSRPPALVARNPLQGY
YQVRRPSHEGYLAAPGLEGPGPDGDGQMQLVTSL
Sequence length 1474
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Attention deficit hyperactivity disorder Pathogenic; Likely pathogenic rs2144666888, rs2144755046, rs1971372172, rs2144613361, rs2144699293 RCV002274837
RCV002274841
RCV002274842
RCV002274843
RCV002274844
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autistic behavior Pathogenic; Likely pathogenic rs2144666888, rs2144755046, rs1971372172, rs2144613361, rs2144699293 RCV002274837
RCV002274841
RCV002274842
RCV002274843
RCV002274844
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders Pathogenic; Likely pathogenic rs2144666888, rs2144613733, rs2144755046, rs1971372172, rs2144613361, rs2512766503, rs2513043216, rs2512827446 RCV002287907
RCV002287908
RCV002287909
RCV002287910
RCV002287911
RCV003444144
RCV003458951
RCV003988346
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay Pathogenic; Likely pathogenic rs2144666888, rs2144613733, rs2144616263, rs2144755046, rs2144613361, rs2144699293, rs907174700, rs1395589626 RCV002274837
RCV002274838
RCV002274839
RCV002274841
RCV002274843
RCV002274844
RCV002274845
RCV002274846
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADGRL1-related condition Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 23951353
★☆☆☆☆
Found in Text Mining only
Brain Injuries Traumatic Associate 36482407
★☆☆☆☆
Found in Text Mining only
Cholera Associate 26627831
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 37398658
★☆☆☆☆
Found in Text Mining only
Cutis Laxa Autosomal Dominant Associate 21309044
★☆☆☆☆
Found in Text Mining only
Hyperkinesis Associate 20648052
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 20648052
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Lymphocytic Chronic B Cell Associate 21911837
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Associate 27322212
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 27258612
★☆☆☆☆
Found in Text Mining only