{ "uniprot_canonical_ac": "O94910-1", "uniprot_ac": "O94910", "uniprot_id": "AGRL1_HUMAN", "mass": { "chemical_mass": 162717.0, "monoisotopic_mass": 162717.0 }, "refseq": { "ac": "NP_001008701", "name": "adhesion G protein-coupled receptor L1 isoform 1 precursor", "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 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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, "gene_names": [ { "name": "ADGRL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94910", "id": "O94910" }, { "name": "ADGRL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701", "id": "NP_001008701" }, { "name": "CIRL1; CL1; DEDBANP; LEC2; LPHN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701", "id": "NP_001008701" }, { "name": "KIAA0821", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94910", "id": "O94910" }, { "name": "LEC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94910", "id": "O94910" }, { "name": "LPHN1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94910", "id": "O94910" } ], "protein_names": [ { "name": "Adhesion G protein-coupled receptor L1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94910" }, { "name": "CIRL-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94910" }, { "name": "Calcium-independent alpha-latrotoxin receptor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94910" }, { "name": "Latrophilin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94910" }, { "name": "Lectomedin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94910" }, { "name": "adhesion G protein-coupled receptor L1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701", "id": "NP_001008701" }, { "name": "lectomedin-2; calcium-independent alpha-latrotoxin receptor 1; latrophilin-1; CIRL-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701", "id": "NP_001008701" } ], "function": [ { "annotation": "ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, { "database": "PubMed", "id": "35907405", "url": "https://glygen.org/publication/PubMed/35907405" } ] }, { "annotation": "Alterations in latrophilin expression occur in AML cells expressing P-gp", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, { "database": "PubMed", "id": "29938681", "url": "https://glygen.org/publication/PubMed/29938681" } ] }, { "annotation": "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 mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910#function" }, { "database": "UniProtKB", "id": "O88917", "url": "https://www.uniprot.org/uniprot/O88917#function" }, { "database": "PubMed", "id": "35907405", "url": "https://glygen.org/publication/PubMed/35907405" } ] }, { "annotation": "Cortisol facilitates the immune escape of human acute myeloid leukemia cells by inducing latrophilin 1 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, { "database": "PubMed", "id": "29907881", "url": "https://glygen.org/publication/PubMed/29907881" } ] }, { "annotation": "Results suggest that SSB splicing selectively affects the duality of LPHN1 signaling toward opposing cAMP pathways", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, { "database": "PubMed", "id": "31339586", "url": "https://glygen.org/publication/PubMed/31339586" } ] }, { "annotation": "These findings reveal a novel mechanism of axonal pathfinding, whereby latrophilin-1 and Lasso mediate both short-range interaction that supports synaptogenesis, and long-range signaling that induces axonal attraction. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" }, { "database": "PubMed", "id": "30457553", "url": "https://glygen.org/publication/PubMed/30457553" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ] } ], "disease": [ { "disease_id": "MONDO:0859292", "recommended_name": { "id": "MONDO:0859292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859292", "name": "developmental delay, behavioral abnormalities, and neuropsychiatric disorders", "description": "" }, "synonyms": [ { "id": "MIM:620065", "resource": "MIM", "url": "https://www.omim.org/entry/620065", "name": "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders", "description": "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders" } ], "evidence": [ { "id": "620065", "database": "MIM", "url": "https://www.omim.org/entry/620065" } ] } ], "snv": [ { "evidence": [ { "id": "rs373508276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373508276" }, { "id": "rs373508276", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373508276" }, { "id": "rs373508276", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373508276" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1039, "end_pos": 1039, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "14156135", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1039", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745596952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745596952" }, { "id": "rs745596952", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745596952" }, { "id": "rs745596952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745596952" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1073, "end_pos": 1073, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KES->NES).", "chr_id": "19", "chr_pos": "14155449", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1387778028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387778028" }, { "id": "rs1387778028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1387778028#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1137, "end_pos": 1137, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "19", "chr_pos": "14152812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201146355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201146355" }, { "id": "rs201146355", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201146355" }, { "id": "rs201146355", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201146355" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1140, "end_pos": 1140, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTR->NTS).", "chr_id": "19", "chr_pos": "14152804", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781225729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781225729" }, { "id": "rs781225729", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781225729" }, { "id": "rs781225729", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781225729#frequency_tab" }, { "id": "rs781225729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781225729" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1212, "end_pos": 1212, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "19", "chr_pos": "14152339", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1198314518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1198314518" }, { "id": "rs1198314518", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1198314518" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 1249, "end_pos": 1249, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "19", "chr_pos": "14151552", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1240778292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1240778292" }, { "id": "rs1240778292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1240778292" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1252, "end_pos": 1252, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSY->NSS).", "chr_id": "19", "chr_pos": "14151543", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324017098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324017098" }, { "id": "rs1324017098", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324017098#frequency_tab" }, { "id": "rs1324017098", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324017098" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 12, "end_pos": 12, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLC->NLS).", "chr_id": "19", "chr_pos": "14183568", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C12", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747015664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747015664" }, { "id": "rs747015664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747015664" }, { "id": "rs747015664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747015664#frequency_tab" }, { "id": "rs747015664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747015664" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1399, "end_pos": 1399, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "19", "chr_pos": "14151103", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226166895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226166895" }, { "id": "rs1226166895", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226166895" }, { "id": "rs1226166895", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226166895#frequency_tab" }, { "id": "rs1226166895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226166895" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 252, "end_pos": 252, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "19", "chr_pos": "14163062", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O94910", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94910" }, { "id": "rs944487739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs944487739" }, { "id": "rs944487739", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs944487739" }, { "id": "rs944487739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs944487739#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 335, "end_pos": 335, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "19", "chr_pos": "14162813", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D335", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O94910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94910" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94910" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O94910", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94910" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.ensembl.org/id/ENSP00000465453.1" } ] } }, { "isoform_ac": "K7ERC3-1", "url": "", "sequence": { "sequence": "XSLKTSAMRSNTRYYTGTQSRIRRMWNDTVRKQTESSFMAGDINSTPTLNRGTMGNHLLTNPVLQPRGGTSPYNTLIAESVGFNPSSPPVFNSPEHPLGGREACGMDTLPLNGNFNNSYSLRSGDFPPGDGGPEPPRGRNLADAAAFEKMIISELVHNNLRGSSSAAKGPPPPEPPVPPVPGGGGEEEAGGPGGADRAEIELLYKALEEPLLLPRAQSVLYQSDLDESESCTAEDGATSRPLS", "length": 243, "header": "tr|K7ERC3-1|K7ERC3_HUMAN Computationally mapped isoform of Adhesion G protein-coupled receptor L1 OS=Homo sapiens OX=9606 GN=ADGRL1 PE=1 SV=1 CANONICAL=O94910-1" }, "locus": { "chromosome": "19", "start_pos": 14152839, "end_pos": 14151169, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593005.5", "url": "https://www.ensembl.org/id/ENST00000593005.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468197.1", "url": "https://www.ensembl.org/id/ENSP00000468197.1" } ] } }, { "isoform_ac": "K7ESH3-1", "url": "", "sequence": { "sequence": "SAGHPSPRTQWVPSTSWDLICLQPQPQSPAPGGPQPRIYTCPLSSSASPERYGGSSGRPPSRACWWRGPAPRGLEIKSGENAANIASELARHTRGSIYAGDVSSSVKLMEQLLDILDAQLQALRPIERESAGKNYNKMHKRERTCKDYIKAVVETVDNLLRPEALESWKDMNATEQVHTATMLLDVLEEGAFLLADNVREPARFLAAKENVVLEVTVLNTEGQVQ", "length": 225, "header": "tr|K7ESH3-1|K7ESH3_HUMAN Computationally mapped isoform of Adhesion G protein-coupled receptor L1 OS=Homo sapiens OX=9606 GN=ADGRL1 PE=1 SV=1 CANONICAL=O94910-1" }, "locus": { "chromosome": "19", "start_pos": 14161536, "end_pos": 14159175, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589616.1", "url": "https://www.ensembl.org/id/ENST00000589616.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468711.1", "url": "https://www.ensembl.org/id/ENSP00000468711.1" } ] } }, { "isoform_ac": "O94910-1", "url": "", "sequence": { "sequence": "MARLAAVLWNLCVTAVLVTSATQGLSRAGLPFGLMRRELACEGYPIELRCPGSDVIMVENANYGRTDDKICDADPFQMENVQCYLPDAFKIMSQRCNNRTQCVVVAGSDAFPDPCPGTYKYLEVQYDCVPYKVEQKVFVCPGTLQKVLEPTSTHESEHQSGAWCKDPLQAGDRIYVMPWIPYRTDTLTEYASWEDYVAARHTTTYRLPNRVDGTGFVVYDGAVFYNKERTRNIVKYDLRTRIKSGETVINTANYHDTSPYRWGGKTDIDLAVDENGLWVIYATEGNNGRLVVSQLNPYTLRFEGTWETGYDKRSASNAFMVCGVLYVLRSVYVDDDSEAAGNRVDYAFNTNANREEPVSLTFPNPYQFISSVDYNPRDNQLYVWNNYFVVRYSLEFGPPDPSAGPATSPPLSTTTTARPTPLTSTASPAATTPLRRAPLTTHPVGAINQLGPDLPPATAPVPSTRRPPAPNLHVSPELFCEPREVRRVQWPATQQGMLVERPCPKGTRGIASFQCLPALGLWNPRGPDLSNCTSPWVNQVAQKIKSGENAANIASELARHTRGSIYAGDVSSSVKLMEQLLDILDAQLQALRPIERESAGKNYNKMHKRERTCKDYIKAVVETVDNLLRPEALESWKDMNATEQVHTATMLLDVLEEGAFLLADNVREPARFLAAKENVVLEVTVLNTEGQVQELVFPQEEYPRKNSIQLSAKTIKQNSRNGVVKVVFILYNNLGLFLSTENATVKLAGEAGPGGPGGASLVVNSQVIAASINKESSRVFLMDPVIFTVAHLEDKNHFNANCSFWNYSERSMLGYWSTQGCRLVESNKTHTTCACSHLTNFAVLMAHREIYQGRINELLLSVITWVGIVISLVCLAICISTFCFLRGLQTDRNTIHKNLCINLFLAELLFLVGIDKTQYEIACPIFAGLLHYFFLAAFSWLCLEGVHLYLLLVEVFESEYSRTKYYYLGGYCFPALVVGIAAAIDYRSYGTEKACWLRVDNYFIWSFIGPVSFVIVVNLVFLMVTLHKMIRSSSVLKPDSSRLDNIKSWALGAIALLFLLGLTWAFGLLFINKESVVMAYLFTTFNAFQGVFIFVFHCALQKKVHKEYSKCLRHSYCCIRSPPGGTHGSLKTSAMRSNTRYYTGTQSRIRRMWNDTVRKQTESSFMAGDINSTPTLNRGTMGNHLLTNPVLQPRGGTSPYNTLIAESVGFNPSSPPVFNSPGSYREPKHPLGGREACGMDTLPLNGNFNNSYSLRSGDFPPGDGGPEPPRGRNLADAAAFEKMIISELVHNNLRGSSSAAKGPPPPEPPVPPVPGGGGEEEAGGPGGADRAEIELLYKALEEPLLLPRAQSVLYQSDLDESESCTAEDGATSRPLSSPPGRDSLYASGANLRDSPSYPDSSPEGPSEALPPPPPAPPGPPEIYYTSRPPALVARNPLQGYYQVRRPSHEGYLAAPGLEGPGPDGDGQMQLVTSL", "length": 1474, "header": "sp|O94910-1|AGRL1_HUMAN Isoform 1 of Adhesion G protein-coupled receptor L1 OS=Homo sapiens OX=9606 GN=ADGRL1 PE=1 SV=1 CANONICAL=O94910-1" }, "locus": { "chromosome": "19", "start_pos": 14183602, "end_pos": 14150876, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340736.10", "url": "https://www.ensembl.org/id/ENST00000340736.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000340688.5", "url": "https://www.ensembl.org/id/ENSP00000340688.5" } ] } }, { "isoform_ac": "O94910-2", "url": "", "sequence": { "sequence": "MARLAAVLWNLCVTAVLVTSATQGLSRAGLPFGLMRRELACEGYPIELRCPGSDVIMVENANYGRTDDKICDADPFQMENVQCYLPDAFKIMSQRCNNRTQCVVVAGSDAFPDPCPGTYKYLEVQYDCVPYIFVCPGTLQKVLEPTSTHESEHQSGAWCKDPLQAGDRIYVMPWIPYRTDTLTEYASWEDYVAARHTTTYRLPNRVDGTGFVVYDGAVFYNKERTRNIVKYDLRTRIKSGETVINTANYHDTSPYRWGGKTDIDLAVDENGLWVIYATEGNNGRLVVSQLNPYTLRFEGTWETGYDKRSASNAFMVCGVLYVLRSVYVDDDSEAAGNRVDYAFNTNANREEPVSLTFPNPYQFISSVDYNPRDNQLYVWNNYFVVRYSLEFGPPDPSAGPATSPPLSTTTTARPTPLTSTASPAATTPLRRAPLTTHPVGAINQLGPDLPPATAPVPSTRRPPAPNLHVSPELFCEPREVRRVQWPATQQGMLVERPCPKGTRGIASFQCLPALGLWNPRGPDLSNCTSPWVNQVAQKIKSGENAANIASELARHTRGSIYAGDVSSSVKLMEQLLDILDAQLQALRPIERESAGKNYNKMHKRERTCKDYIKAVVETVDNLLRPEALESWKDMNATEQVHTATMLLDVLEEGAFLLADNVREPARFLAAKENVVLEVTVLNTEGQVQELVFPQEEYPRKNSIQLSAKTIKQNSRNGVVKVVFILYNNLGLFLSTENATVKLAGEAGPGGPGGASLVVNSQVIAASINKESSRVFLMDPVIFTVAHLEDKNHFNANCSFWNYSERSMLGYWSTQGCRLVESNKTHTTCACSHLTNFAVLMAHREIYQGRINELLLSVITWVGIVISLVCLAICISTFCFLRGLQTDRNTIHKNLCINLFLAELLFLVGIDKTQYEIACPIFAGLLHYFFLAAFSWLCLEGVHLYLLLVEVFESEYSRTKYYYLGGYCFPALVVGIAAAIDYRSYGTEKACWLRVDNYFIWSFIGPVSFVIVVNLVFLMVTLHKMIRSSSVLKPDSSRLDNIKSWALGAIALLFLLGLTWAFGLLFINKESVVMAYLFTTFNAFQGVFIFVFHCALQKKVHKEYSKCLRHSYCCIRSPPGGTHGSLKTSAMRSNTRYYTGTQSRIRRMWNDTVRKQTESSFMAGDINSTPTLNRGTMGNHLLTNPVLQPRGGTSPYNTLIAESVGFNPSSPPVFNSPGSYREPKHPLGGREACGMDTLPLNGNFNNSYSLRSGDFPPGDGGPEPPRGRNLADAAAFEKMIISELVHNNLRGSSSAAKGPPPPEPPVPPVPGGGGEEEAGGPGGADRAEIELLYKALEEPLLLPRAQSVLYQSDLDESESCTAEDGATSRPLSSPPGRDSLYASGANLRDSPSYPDSSPEGPSEALPPPPPAPPGPPEIYYTSRPPALVARNPLQGYYQVRRPSHEGYLAAPGLEGPGPDGDGQMQLVTSL", "length": 1469, "header": "sp|O94910-2|AGRL1_HUMAN Isoform 2 of Adhesion G protein-coupled receptor L1 OS=Homo sapiens OX=9606 GN=ADGRL1 PE=1 SV=1 CANONICAL=O94910-1" }, "locus": { "chromosome": "19", "start_pos": 14183602, "end_pos": 14150876, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361434.8", "url": "https://www.ensembl.org/id/ENST00000361434.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000355328.2", "url": "https://www.ensembl.org/id/ENSP00000355328.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 464, "start_aa": "Thr", "end_pos": 464, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr464", "evidence": [ { "id": "O94910", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 531, "start_aa": "Asn", "end_pos": 531, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn531", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 640, "start_aa": "Asn", "end_pos": 640, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn640", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 742, "start_aa": "Asn", "end_pos": 742, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn742", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 801, "start_aa": "Asn", "end_pos": 801, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn801", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 806, "start_aa": "Asn", "end_pos": 806, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn806", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 827, "start_aa": "Asn", "end_pos": 827, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn827", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 98, "start_aa": "Asn", "end_pos": 98, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn98", "evidence": [ { "id": "O94910", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94910#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1032, "end_pos": 1032, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1032" }, { "start_pos": 1033, "end_pos": 1033, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1033" }, { "start_pos": 1040, "end_pos": 1040, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1040" }, { "start_pos": 1041, "end_pos": 1041, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1041" }, { "start_pos": 1220, "end_pos": 1220, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "site_lbl": "Ser1220" }, { "start_pos": 1440, "end_pos": 1440, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "phospho.ELM", "id": "O94910", "url": "http://phospho.elm.eu.org/byAccession/O94910.html" } ], "site_lbl": "Tyr1440" }, { "start_pos": 1451, "end_pos": 1451, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr1451" }, { "start_pos": 1473, "end_pos": 1473, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "site_lbl": "Ser1473" }, { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "27869121", "url": "" } ], "site_lbl": "Tyr326" }, { "start_pos": 731, "end_pos": 731, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O94910", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr731" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.", "journal": "Anal. Chem.", "date": "2004", "authors": "Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" }, { "database": "iPTMnet", "id": "O94910-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910-1" } ], "reference": [ { "type": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O94910-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94910-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Cortisol facilitates the immune escape of human acute myeloid leukemia cells by inducing latrophilin 1 expression.", "journal": "Cellular & molecular immunology", "date": "2018", "authors": "Sakhnevych SS, Yasinska IM, Bratt AM, Benlaouer O, Goncalves Silva I, Hussain R, Siligardi G, Fiedler W, Wellbrock J, Gibbs BF, Ushkaryov YA, Sumbayev VV", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ], "reference": [ { "type": "PubMed", "id": "29907881", "url": "https://glygen.org/publication/PubMed/29907881" } ] }, { "title": "Overexpression of the ABCB1 drug transporter in acute myeloid leukemia cells is associated with downregulation of latrophilin-1.", "journal": "General physiology and biophysics", "date": "2018", "authors": "Kocibalova Z, Guzyova M, Imrichova D, Sulova Z, Breier A", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ], "reference": [ { "type": "PubMed", "id": "29938681", "url": "https://glygen.org/publication/PubMed/29938681" } ] }, { "title": "Proteolytically released Lasso/teneurin-2 induces axonal attraction by interacting with latrophilin-1 on axonal growth cones.", "journal": "eLife", "date": "2018", "authors": "Vysokov NV, Silva JP, Lelianova VG, Suckling J, Cassidy J, Blackburn JK, Yankova N, Djamgoz MB, Kozlov SV, Tonevitsky AG, Ushkaryov YA", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ], "reference": [ { "type": "PubMed", "id": "30457553", "url": "https://glygen.org/publication/PubMed/30457553" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O94910", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Alternative splicing event modifying ADGRL1/latrophilin-1 cytoplasmic tail promotes both opposing and dual cAMP signaling pathways.", "journal": "Annals of the New York Academy of Sciences", "date": "2019", "authors": "Ovando-Zambrano JC, Arias-Montano JA, Boucard AA", "evidence": [ { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ], "reference": [ { "type": "PubMed", "id": "31339586", "url": "https://glygen.org/publication/PubMed/31339586" } ] }, { "title": "ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.", "journal": "American journal of human genetics", "date": "2022", "authors": "Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denomme-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" }, { "database": "RefSeq", "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701" } ], "reference": [ { "type": "PubMed", "id": "35907405", "url": "https://glygen.org/publication/PubMed/35907405" } ] } ], "pathway": [ { "id": "hsa:22859", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22859", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O88917-1", "protein_name": "Adhesion G protein-coupled receptor L1", "gene_name": "Adgrl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MARLAAALWSLCVTTVLVTSATQGLSRAGLPFGLMRRELACEGYPIELRCPGSDVIMVENANYGRTDDKICDADPFQMENVQCYLPDAFKIMSQRCNNRTQCVVVAGSDAFPDPCPGTYKYLEVQYDCVPYKVEQKVFVCPGTLQKVLEPTSTHESEHQSGAWCKDPLQAGDRIYVMPWIPYRTDTLTEYASWEDYVAARHTTTYRLPNRVDGTGFVVYDGAVFYNKERTRNIVKYDLRTRIKSGETVINTANYHDTSPYRWGGKTDIDLAVDENGLWVIYATEGNNGRLVVSQLNPYTLRFEGTWETGYDKRSASNAFMVCGVLYVLRSVYVDDDSEAAGNRVDYAFNTNANREEPVSLAFPNPYQFVSSVDYNPRDNQLYVWNNYFVVRYSLEFGPPDPSAGPATSPPLSTTTTARPTPLTSTASPAATTPLRRAPLTTHPVGAINQLGPDLPPATAPAPSTRRPPAPNLHVSPELFCEPREVRRVQWPATQQGMLVERPCPKGTRGIASFQCLPALGLWNPRGPDLSNCTSPWVNQVAQKIKSGENAANIASELARHTRGSIYAGDVSSSVKLMEQLLDILDAQLQALRPIERESAGKNYNKMHKRERTCKDYIKAVVETVDNLLRPEALESWKDMNATEQVHTATMLLDVLEEGAFLLADNVREPARFLAAKQNVVLEVTVLSTEGQVQELVFPQEYASESSIQLSANTIKQNSRNGVVKVVFILYNNLGLFLSTENATVKLAGEAGTGGPGGASLVVNSQVIAASINKESSRVFLMDPVIFTVAHLEAKNHFNANCSFWNYSERSMLGYWSTQGCRLVESNKTHTTCACSHLTNFAVLMAHREIYQGRINELLLSVITWVGIVISLVCLAICISTFCFLRGLQTDRNTIHKNLCINLFLAELLFLVGIDKTQYEVACPIFAGLLHYFFLAAFSWLCLEGVHLYLLLVEVFESEYSRTKYYYLGGYCFPALVVGIAAAIDYRSYGTEKACWLRVDNYFIWSFIGPVSFVIVVNLVFLMVTLHKMIRSSSVLKPDSSRLDNIKSWALGAIALLFLLGLTWAFGLLFINKESVVMAYLFTTFNAFQGVFIFVFHCALQKKVHKEYSKCLRHSYCCIRSPPGGAHGSLKTSAMRSNTRYYTGTQVPGQGRHIHQVSLGPRGRSALPESQKDPGGQSGPGDPLTFGLCPSRIRRMWNDTVRKQTESSFMAGDINSTPTLNRGTMGNHLLTNPVLQPRGGTSPYNTLIAESVGFNPSSPPVFNSPGSYREPKHPLGGREACGMDTLPLNGNFNNSYSLRSGDFPPGDGGPEPPRGRNLADAAAFEKMIISELVHNNLRGASGGAKGPPPEPPVPPVPGVSEDEAGGPGGADRAEIELLYKALEEPLLLPRAQSVLYQSDLDESESCTAEDGATSRPLSSPPGRDSLYASGANLRDSPSYPDSSPEGPNEALPPPPPAPPGPPEIYYTSRPPALVARNPLQGYYQVRRPSHEGYLAAPSLEGPGPDGDGQMQLVTSL", "length": 1515 }, "evidence": [ { "id": "45930581", "url": "http://www.informatics.jax.org/homology/45930581", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80TR1-1", "protein_name": "Adhesion G protein-coupled receptor L1", "gene_name": "Adgrl1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 1466 }, "evidence": [ { "id": "45930581", "url": "http://www.informatics.jax.org/homology/45930581", "database": "MGI" }, { "id": "O94910", "url": "https://omabrowser.org/oma/group/O94910/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "latrotoxin receptor activity", "id": "GO:0016524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016524", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "positive regulation of synapse maturation", "id": "GO:0090129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090129", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" }, { "name": "calcium-mediated signaling using intracellular calcium source", "id": "GO:0035584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035584", "evidence": [ { "database": "UniProtKB", "id": "O94910", "url": "https://www.uniprot.org/uniprot/O94910" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "adhesion G protein-coupled receptor L1 O-glycosylated 1 (human)", "definition": "An adhesion G protein-coupled receptor L1 (human) that has been O-glycosylated at the residue equivalent to Thr-464 of the amino acid sequence represented by UniProtKB:O94910-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O94910-1, Thr-464, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050889", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050889" } ] } ], "site_annotation": [ { "start_pos": 1154, "end_pos": 1156, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1171, "end_pos": 1173, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1249, "end_pos": 1251, "annotation": "n_glycosylation_sequon" }, { "start_pos": 531, "end_pos": 533, "annotation": "n_glycosylation_sequon" }, { "start_pos": 640, "end_pos": 642, "annotation": "n_glycosylation_sequon" }, { "start_pos": 742, "end_pos": 744, "annotation": "n_glycosylation_sequon" }, { "start_pos": 801, "end_pos": 803, "annotation": "n_glycosylation_sequon" }, { "start_pos": 806, "end_pos": 808, "annotation": "n_glycosylation_sequon" }, { "start_pos": 827, "end_pos": 829, "annotation": "n_glycosylation_sequon" }, { "start_pos": 98, "end_pos": 100, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 98, 531, 640, 742, 801, 806, 827 ], "o_linked_sites": [ 464 ], "snv_sites": [ 12, 252, 335, 351, 353, 505, 528, 533, 642, 742, 827, 842, 915, 1039, 1073, 1137, 1140, 1212, 1249, 1252, 1399 ], "glycation_sites": [], "phosphorylation_sites": [ 326, 731, 1032, 1033, 1040, 1041, 1220, 1440, 1451, 1473 ], "sequon_annotation_sites": [ { "start_pos": 1154, "end_pos": 1156 }, { "start_pos": 1171, "end_pos": 1173 }, { "start_pos": 1249, "end_pos": 1251 }, { "start_pos": 531, "end_pos": 533 }, { "start_pos": 640, "end_pos": 642 }, { "start_pos": 742, "end_pos": 744 }, { "start_pos": 801, "end_pos": 803 }, { "start_pos": 806, "end_pos": 808 }, { "start_pos": 827, "end_pos": 829 }, { "start_pos": 98, "end_pos": 100 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", 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