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
Methods
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
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: LPHN1_HUMAN
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
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-  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     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.