Human Gene ADGRL1 (ENST00000340736.10) Description and Page Index
  Description: Homo sapiens adhesion G protein-coupled receptor L1 (ADGRL1), transcript variant 1, mRNA. (from RefSeq NM_001008701)
RefSeq Summary (NM_001008701): 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].
Gencode Transcript: ENST00000340736.10
Gencode Gene: ENSG00000072071.16
Transcript (Including UTRs)
   Position: hg38 chr19:14,147,743-14,206,187 Size: 58,445 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg38 chr19:14,150,873-14,183,602 Size: 32,730 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:14,147,743-14,206,187)mRNA (may differ from genome)Protein (1474 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
Entrez GeneExonPrimerGeneCardsHPRDLynxMGI
myGene2neXtProtOMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Latrophilin-1; AltName: Full=Calcium-independent alpha-latrotoxin receptor 1; Short=CIRL-1; AltName: Full=Lectomedin-2; Flags: Precursor;
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. Receptor propably implicated in the regulation of exocytosis (By similarity).
SUBUNIT: Forms a heterodimer, consisting of a large extracellular region (p120) non-covalently linked to a seven-transmembrane moiety (p85). Interacts with syntaxin and with proteins of the SHANK family via the PDZ domain (By similarity).
INTERACTION: O00555:CACNA1A; NbExp=2; IntAct=EBI-3389315, EBI-766279;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
DOMAIN: The extracellular domain coupled to the a single transmembrane region are sufficient for full responsiveness to alpha-latrotoxin (By similarity).
PTM: 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).
SIMILARITY: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
SIMILARITY: Contains 1 GPS domain.
SIMILARITY: Contains 1 olfactomedin-like domain.
SIMILARITY: Contains 1 SUEL-type lectin domain.
SEQUENCE CAUTION: Sequence=BAA74844.2; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: ADGRL1
Diseases sorted by gene-association score: dermatophytosis (7), retinal degeneration, late-onset, autosomal dominant (5)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.77 RPKM in Brain - Cerebellum
Total median expression: 511.29 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.20298-0.454 Picture PostScript Text
3' UTR -1386.103130-0.443 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022624 - DUF3497
IPR017981 - GPCR_2-like
IPR001879 - GPCR_2_extracellular_dom
IPR003924 - GPCR_2_latrophilin
IPR003334 - GPCR_2_latrophilin_rcpt_C
IPR000832 - GPCR_2_secretin-like
IPR017983 - GPCR_2_secretin-like_CS
IPR000203 - GPS_dom
IPR000922 - Lectin_gal-bd_dom
IPR003112 - Olfac-like

Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF12003 - n/a
PF02140 - Galactose binding lectin domain
PF01825 - GPCR proteolysis site, GPS, motif
PF02793 - Hormone receptor domain
PF02354 - Latrophilin Cytoplasmic C-terminal region
PF02191 - Olfactomedin-like domain

ModBase Predicted Comparative 3D Structure on O94910
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0016524 latrotoxin receptor activity
GO:0030246 carbohydrate binding
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0051965 positive regulation of synapse assembly
GO:0090129 positive regulation of synapse maturation

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0030426 growth cone
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0045202 synapse

-  Descriptions from all associated GenBank mRNAs
  BC007587 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:3162852), partial cds.
AB020628 - Homo sapiens KIAA0821 mRNA for KIAA0821 protein.
AF307079 - Homo sapiens lectomedin-2 (LEC2) mRNA, complete cds.
AB384000 - Synthetic construct DNA, clone: pF1KSDA0821, Homo sapiens LPHN1 gene for latrophilin-1 precursor, complete cds, without stop codon, in Flexi system.
BC168378 - Synthetic construct Homo sapiens clone IMAGE:100068274, MGC:195891 latrophilin 1 (LPHN1) mRNA, encodes complete protein.
BC019928 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:3870835).
BC072445 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:6164943).
BC013275 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:3941767).
BC090949 - Homo sapiens cDNA clone IMAGE:6204660.
AK022001 - Homo sapiens cDNA FLJ11939 fis, clone HEMBB1000592.
JD306169 - Sequence 287193 from Patent EP1572962.
JD353949 - Sequence 334973 from Patent EP1572962.
JD415779 - Sequence 396803 from Patent EP1572962.
JD257137 - Sequence 238161 from Patent EP1572962.
JD524204 - Sequence 505228 from Patent EP1572962.
JD554745 - Sequence 535769 from Patent EP1572962.
JD403868 - Sequence 384892 from Patent EP1572962.
JD402318 - Sequence 383342 from Patent EP1572962.
JD184580 - Sequence 165604 from Patent EP1572962.
JD375697 - Sequence 356721 from Patent EP1572962.
JD453856 - Sequence 434880 from Patent EP1572962.
JD075981 - Sequence 57005 from Patent EP1572962.
JD498048 - Sequence 479072 from Patent EP1572962.
JD106184 - Sequence 87208 from Patent EP1572962.
JD109096 - Sequence 90120 from Patent EP1572962.
JD384350 - Sequence 365374 from Patent EP1572962.
JD554236 - Sequence 535260 from Patent EP1572962.
JD389271 - Sequence 370295 from Patent EP1572962.
JD554935 - Sequence 535959 from Patent EP1572962.
JD488678 - Sequence 469702 from Patent EP1572962.
JD223764 - Sequence 204788 from Patent EP1572962.
JD144793 - Sequence 125817 from Patent EP1572962.
JD396908 - Sequence 377932 from Patent EP1572962.
JD566129 - Sequence 547153 from Patent EP1572962.
CU676484 - Synthetic construct Homo sapiens gateway clone IMAGE:100018547 5' read LPHN1 mRNA.
JD271975 - Sequence 252999 from Patent EP1572962.
JD295658 - Sequence 276682 from Patent EP1572962.
JD172983 - Sequence 154007 from Patent EP1572962.
JD125949 - Sequence 106973 from Patent EP1572962.
JD195016 - Sequence 176040 from Patent EP1572962.
JD368869 - Sequence 349893 from Patent EP1572962.
JD454569 - Sequence 435593 from Patent EP1572962.
JD394656 - Sequence 375680 from Patent EP1572962.
BC002974 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:3535311), partial cds.
JD418766 - Sequence 399790 from Patent EP1572962.
JD555624 - Sequence 536648 from Patent EP1572962.
JD164045 - Sequence 145069 from Patent EP1572962.
JD077522 - Sequence 58546 from Patent EP1572962.
JD385183 - Sequence 366207 from Patent EP1572962.
JD184747 - Sequence 165771 from Patent EP1572962.
JD067030 - Sequence 48054 from Patent EP1572962.
JD404773 - Sequence 385797 from Patent EP1572962.
JD476075 - Sequence 457099 from Patent EP1572962.
JD538072 - Sequence 519096 from Patent EP1572962.
JD320826 - Sequence 301850 from Patent EP1572962.
JD199886 - Sequence 180910 from Patent EP1572962.
JD395212 - Sequence 376236 from Patent EP1572962.
JD459003 - Sequence 440027 from Patent EP1572962.
JD468184 - Sequence 449208 from Patent EP1572962.
JD516831 - Sequence 497855 from Patent EP1572962.
JD496021 - Sequence 477045 from Patent EP1572962.
JD078155 - Sequence 59179 from Patent EP1572962.
JD307218 - Sequence 288242 from Patent EP1572962.
JD174276 - Sequence 155300 from Patent EP1572962.
JD454127 - Sequence 435151 from Patent EP1572962.
JD369539 - Sequence 350563 from Patent EP1572962.
JD317136 - Sequence 298160 from Patent EP1572962.
JD277125 - Sequence 258149 from Patent EP1572962.
JD279129 - Sequence 260153 from Patent EP1572962.
JD527311 - Sequence 508335 from Patent EP1572962.
JD152848 - Sequence 133872 from Patent EP1572962.
JD453366 - Sequence 434390 from Patent EP1572962.
JD475205 - Sequence 456229 from Patent EP1572962.
JD472747 - Sequence 453771 from Patent EP1572962.
DQ582487 - Homo sapiens piRNA piR-32599, complete sequence.
BC052627 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:6670989).
BC028296 - Homo sapiens latrophilin 1, mRNA (cDNA clone IMAGE:4914948), partial cds.
DQ593304 - Homo sapiens piRNA piR-33416, complete sequence.
JD139862 - Sequence 120886 from Patent EP1572962.
JD139736 - Sequence 120760 from Patent EP1572962.
JD409634 - Sequence 390658 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0821, LEC2, LPHN1, LPHN1_HUMAN, NM_001008701, O94910, Q96IE7, Q9BU07, Q9HAR3, uc010xnn.1, uc010xnn.2, uc010xnn.3
UCSC ID: uc010xnn.3
RefSeq Accession: NM_001008701
Protein: O94910 (aka LPHN1_HUMAN or LHN1_HUMAN)
CCDS: CCDS12307.1, CCDS32928.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.