{ "uniprot_canonical_ac": "O14795-1", "uniprot_ac": "O14795", "uniprot_id": "UN13B_HUMAN", "mass": { "chemical_mass": 180679.0, "monoisotopic_mass": 180679.0 }, "refseq": { "ac": "NP_001317582", "name": "protein unc-13 homolog B isoform 2", "summary": "This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, "gene_names": [ { "name": "UNC13B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14795", "id": "O14795" }, { "name": "MUNC13; munc13-2; UNC13; Unc13h2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582", "id": "NP_001317582" }, { "name": "UNC13B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582", "id": "NP_001317582" }, { "name": "UNC13", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14795", "id": "O14795" } ], "protein_names": [ { "name": "Protein unc-13 homolog B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14795" }, { "name": "Munc13-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14795" }, { "name": "homolog of rat Munc13 (diacylglycerol-binding); protein unc-13 homolog B; unc-13-like", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582", "id": "NP_001317582" }, { "name": "munc13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14795" }, { "name": "protein unc-13 homolog B isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582", "id": "NP_001317582" } ], "function": [ { "annotation": "Abnormal splicing mutation in UNC13B was identified in the patient with bipolar disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, { "database": "PubMed", "id": "30117296", "url": "https://glygen.org/publication/PubMed/30117296" } ] }, { "annotation": "Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, { "database": "PubMed", "id": "35135883", "url": "https://glygen.org/publication/PubMed/35135883" } ] }, { "annotation": "Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-depending refilling of readily releasable vesicle pool (RRP) (By similarity). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). In collaboration with UNC13A, facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795#function" }, { "database": "UniProtKB", "id": "Q9Z1N9", "url": "https://www.uniprot.org/uniprot/Q9Z1N9#function" } ] }, { "annotation": "TRPC6 exocytosis by targeting to the C1 domain of Munc13-2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, { "database": "PubMed", "id": "32134975", "url": "https://glygen.org/publication/PubMed/32134975" } ] }, { "annotation": "There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the Diabetic Kidney Disease group and control group of patients with type 2 diabetes mellitus . Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, { "database": "PubMed", "id": "31713534", "url": "https://glygen.org/publication/PubMed/31713534" } ] }, { "annotation": "This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" } ] }, { "annotation": "UNC13B variants associated with partial epilepsy with favourable outcome. Erratum:[Brain. 2022 Apr 18;145(2):e5. PMID: 34897376]", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" }, { "database": "PubMed", "id": "33876820", "url": "https://glygen.org/publication/PubMed/33876820" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs757803531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757803531" }, { "id": "rs757803531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757803531" }, { "id": "rs757803531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757803531" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1333, "end_pos": 1333, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "9", "chr_pos": "35399437", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757803531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757803531" }, { "id": "rs757803531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757803531" }, { "id": "rs757803531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757803531" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1333, "end_pos": 1333, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "9", "chr_pos": "35399437", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1587450133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1587450133" }, { "id": "rs1587450133", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1587450133" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 151, "end_pos": 151, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAL->NAS).", "chr_id": "9", "chr_pos": "35243348", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L151", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752531061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531061" }, { "id": "rs752531061", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752531061" }, { "id": "rs752531061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752531061" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1535, "end_pos": 1535, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "9", "chr_pos": "35403860", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1535", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235769574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235769574" }, { "id": "rs1235769574", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1235769574#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 193, "end_pos": 193, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SET->NET).", "chr_id": "9", "chr_pos": "35295747", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14795", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14795" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 196, "end_pos": 196, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SNS->NNS).", "chr_id": "9", "chr_pos": "35295756", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S196", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O14795", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14795" }, { "id": "rs1301158119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301158119" }, { "id": "rs1301158119", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1301158119#frequency_tab" }, { "id": "rs1301158119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1301158119" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 257, "end_pos": 257, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "9", "chr_pos": "35310475", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S257", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": 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"id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", 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"url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14795" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14795" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" } ], "common_name": "Human" } ], "gene": [ { "name": "UNC13B", "url": "https://www.uniprot.org/uniprot/O14795", "locus": { "chromosome": "9", "start_pos": 35405338, "end_pos": 35161992, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198722", "url": "https://www.ensembl.org/id/ENSG00000198722" } ] } } ], "crossref": [ { "id": "ENSG00000198722", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198722", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14795", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14795", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04027", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04027", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd08394", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08394", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd08395", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08395", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20859", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20859", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "UNC13B", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC13B", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10497", "url": "https://www.ncbi.nlm.nih.gov/gene/10497", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12566", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12566", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "B1AM27", 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"IPR027080", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027080", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035892", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037302", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037302", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046349", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046349", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10497", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10497", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605836", "url": "http://www.omim.org/entry/605836", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14795", "url": "https://www.nextprot.org/entry/NX_O14795", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14795", "url": "https://oglcnac.org/atlas/detail/O14795", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O14795", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14795", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WRIVMTN", "url": "https://omabrowser.org/oma/group/WRIVMTN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4340897at2759", "url": "http://www.orthodb.org/?query=4340897at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10480", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10480", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10480:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10480:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00130", "url": "http://pfam.xfam.org/family/PF00130", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00168", "url": "http://pfam.xfam.org/family/PF00168", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06292", "url": "http://pfam.xfam.org/family/PF06292", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14795", "url": "https://pharos.nih.gov/targets/O14795", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14795", "url": "http://purl.obolibrary.org/obo/PR_O14795", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-181429", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181429", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-264642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264642", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0U1RRB5", "url": "https://www.uniprot.org/uniprot/A0A0U1RRB5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RRB5-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRB5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RRL2", "url": "https://www.uniprot.org/uniprot/A0A0U1RRL2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0U1RRL2-1", "url": "https://www.uniprot.org/uniprot/A0A0U1RRL2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUS7", "url": "https://www.uniprot.org/uniprot/A0A1B0GUS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GUS7-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GUS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVW8", "url": "https://www.uniprot.org/uniprot/A0A1B0GVW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVW8-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AM27", "url": "https://www.uniprot.org/uniprot/B1AM27", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AM27-1", "url": "https://www.uniprot.org/uniprot/B1AM27-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I6L9J0", "url": "https://www.uniprot.org/uniprot/I6L9J0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I6L9J0-1", "url": "https://www.uniprot.org/uniprot/I6L9J0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14795-1", "url": "https://www.uniprot.org/uniprot/O14795-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14795-2", "url": "https://www.uniprot.org/uniprot/O14795-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 1591, "header": "sp|O14795-1|UN13B_HUMAN Isoform 1 of Protein unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=2 CANONICAL=O14795-1" }, "isoforms": [ { "isoform_ac": "A0A0U1RRB5-1", "url": "", "sequence": { "sequence": "WLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLT", "length": 189, "header": "tr|A0A0U1RRB5-1|UN13B_HUMAN Computationally mapped isoform of Protein unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=2 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35399167, "end_pos": 35396538, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000481299.1", "url": "https://www.ensembl.org/id/ENST00000481299.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489441.1", "url": "https://www.ensembl.org/id/ENSP00000489441.1" } ] } }, { "isoform_ac": "A0A0U1RRL2-1", "url": "", "sequence": { "sequence": "MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEKKSEEPFRFQMMVTPLCLSGSRKGQPEGSMALTACQIYAERSHCHLSVIWLCHWSSLGRQESLLQWLHALLLRTKS", "length": 465, "header": "tr|A0A0U1RRL2-1|A0A0U1RRL2_HUMAN Computationally mapped isoform of Unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=1 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35375201, "end_pos": 35162284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000634487.1", "url": "https://www.ensembl.org/id/ENST00000634487.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489581.1", "url": "https://www.ensembl.org/id/ENSP00000489581.1" } ] } }, { "isoform_ac": "A0A1B0GUS7-1", "url": "", "sequence": { "sequence": "MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAIRYAQKYDTLDRRRKKKSLYNHFEDSERRQYGERSETKTNYKSTYSNTENCTLCHTEKKQNMGYPVLYPYKNGFVVKSGMQRIKLESHDYDLSSCLRHCEKSSGSNQHVTNFTSLDILEDSTSSTSDELLGSPISDKQENLQSPTWHSSNVHHIGDFPEEYYVANSALPLQRMNCDAKTLGDLSECSIEEITPSSIEEPKEDRIDTMDELQCLVETVSEYLAEKEEEINRFGSLSKTKKSHKQNSTLDAEQRTPGDQIPPLTIVKNDKDTAISFPELTGVQCAVGSLFSSLTEKVGSGTKHLTNSVEKLVSLVPEKTETLNQIEAINLGSKPRAMAVLGKDLSMQSPLSSQKDDNVNIDRHRKTSENEHMGNKTGSLYFQNTTESIAKDLAPQSQSSVIKSVFSRLNPLKIFSEKEETKKDDDQSKPPRKESFVECGLELNKREGTLDNYSSSIIALNGSDEETTGWFQMPTSENLLSSQVTSEPSNLVSSASKNDESLLEEKLCIDLSLLPDQQKICAKDTPGHPCIAGSRTANKEVFSKPLEEDKVTGNDDFLEPLRKSFSQFLLTSPETCSKESLSEPVKIRQVEEDGLERGSKKDGHSFSFSGKLNLPFFRSLGHSEKQQELKEKGSIFPLFKFSFTDSKVTVNDQSLRGSAVTTDEESKKNCHEDTKHSSIKSSSVPNIHSDLGKFDSTEEFKKNDQINCPEDAKLNSIKSSSVPNIHDDLEKFDSIKEFNKNDQVNCPEDAKLSSIKSGSAPNTQDNLGKFDSTEEFNQNDQINSPEDAKFNIIKSDSVTNINNDLGKFGNIEELNPSDHTAGQNFERDGLAIPGVVPKEHITSDPLGEDKNLIQAASSVASDSSLECISTTSKSTLVNEINEDEVIDKTSKKNTQGSFLSGLFNRFSSAENLSSQELNLKNDDSHHKNNTPGLISGIFNLLSNSGMIDHKPEEAKFMSLGNMKSLNGDNHLSLDEVPATSCVTSENPKNHVEKHETSSFIEASLLPKENIPLSDAGDDNHYCSPTEKNQQSEKHHPSSENIVLHCAPSAQLGFLEKSMAKRQMPNHVLEAKLHENSNKLNSPVLNTNILNKSNNYQAFEEMNSPFCFEWDSDIKDLSKNSRKLQPVYYMLNQNRFLSADACLWLDSENSVINFCQKDQNANILEWRTNPNSVIWCDLPYESFNQLAFNEDYLLRGDVWAANSLYGNSGPLPINEANNSLEELPIDLSSSSDHEKTTCPVVDQESLRMDENFVFSSFGYEYQEWLSCLEHGVWWPSEDGDYGYYMFHDGQYIYSLLTDSTGQYAYLFIPDSYQEYLDCDLQTNGLSSITLDDSIISACSFKVLDKEDEIFWYVEEEPIDDPLDLSLALPRSEEPLYLNLETFSQVLKESSCDQSDQPLDFSGYNRQKFKGDFRSFKERPCGSEDAECTLDLRNQPQTISNHVSSRDQIIERDKNQPLAEDSSVHLSSFHWLQSSVEEVTTLVHPENMTKGSQQAEETSLVNKVASVFSVLGASVGSTLKFDKSESLEALAMQKVNQQSDLAELTNDGFQSLIMSKQLEGNSPNVEKSLLKDSERQIVSNVQHPELIKNIRQEFSLNKNNHVKKQSLLKSGFQVSQTTPQAKSGVKDDEIITTDSISVSPAPQHSGDERENYELPQGQSSKESDKTLFKSSLKLFSQEESSVSMTANEKQSSGFLNLFKTQVNKEGSPNLEKIGDTNVKIPPQEKKESSGVSNFWGTLGDFFKANVSPIQTTENTSVSSMTIKDEVRSSPTPMELASQGAGNFPAAPISSKGKARVRRLNKQTTIDDSRLEESTRGIQGNDLTEKEVPFRDHLIQQSPNSSFSTSSLKESSRESSVETSGVTTVTEVSKSNEISFDTLSKRNSNEQDHFSDKDWSFSMAATSSSQPELSTKKSIFSFLTGSEKSENRASATLPRAKSQAEGLFTLPSFFSTASSSIKKDASHSSSTFSFFSLSFLDQKKETSGEKQSISTVVPVTSQPCKKTNVFVESGSTMTRESSSGHRDSIAQEVVHEQQMAPCISINNTIEVTSLADELSVDKDCQEKLSSNIVPGTSVDFQMNELQKDIIPPSPEFQAQAETFLTGPENLGIAPHEEEAFNHKAFPSDSLSNSFSHAKQLIEKFNDLDTCTNCHQNEKFTTDPVNLPLEKAPDEVLPQILEPASSSPEPGCAGNLQNQDADKEEDKFALGSSVDMLSGFVTKVKSFSGSLIEPPKTLSGLFSSPKSPKKNSFFSLASDVSSQPLKGELFGIFKSPKPEPYKQESSLPATSWLQNGCSRDAVGSVPPERREAAFTALSSESTLSDCRMTVVSAKPESDILTDDPKLTTKMEDNNTPENILEPQRSETINTSSFSGDDTGQGVLSLSDEGDMGILQATDTEASLEAENFALPAQLHPDPTCIAEELPPPIQPPLPLEPEPAIQTASTNQDLLELHPASSLETDTMLFNDASVSQSTTLETEGHFSHPLLEDPVLAARESCEIIHAQKDPPVVPQETEQSRPRFEIPNVTTWPKLRLPSSATNHGKPLSSFFSSPLPSGNRAAETGLMSSFKKLSTLFEGSSEGKGSVLASDSKLGFGKVDLSFPWPKENKGVPEQMPTESSPPVLVTSSDQDLNSSEANKALKSSQISGASAQPGKVYTQPSGTSEQLVASPEVCAQGLSGSGEGGNQQEISASGEHWDTKANLSSPACPSGKHEEEPSTVSEIFHQLEKQEEEAVPASTDSDLNVQQPVTLNDIKEPMTNKSPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 4340, "header": "tr|A0A1B0GUS7-1|A0A1B0GUS7_HUMAN Computationally mapped isoform of Unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=1 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35162284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635942.2", "url": "https://www.ensembl.org/id/ENST00000635942.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490228.1", "url": "https://www.ensembl.org/id/ENSP00000490228.1" } ] } }, { "isoform_ac": "A0A1B0GVW8-1", "url": "", "sequence": { "sequence": "MKRLLQESEEEIMVTLGPSSRLSPDKAKAETMCGTKSKSSGPAGSLPEDNSLPPCCGSAALAIGGDRDGDLAQLCSFGQQNNSQLPLGSTAYVSGSGSQDPSSVSITTSCQEPSERNQTKTLLSRGHGQGCSREQREPLGDVVEYIIRELQGISRLQTEIAELQQHLSQVQGSVDEVSSCVDSVLSEIEGLQVSTCSLAKVCEGEKAQEPHVDRPSEEAILYLYGLPEQDGENTMELVESFLAKHLCVNGMQCNRYIKKAYRAGTSPSPRPTVVKLAHLEHRDFILQKSILLQNVGVRIATREEPSCPQGNKNPQKESISFFQQQHQDYSQTSLNQDEPVLQMETGDRGPITGTYQMKAQDQQREHQAPEQQGPCFLLKNNLSKESDVPKLGDEIKGASRTSQVISGSCDELSEKKASLSTPHQFEEPALVLISKEEASGKSQFFKQYSQKHEACKVGKPENDCHDKSEASSCLSLSGLLKTERINAEDKLLGCEAGLDILSSKELEDLLADKSRRLAALSCDSMMEEIIIGPETFSDMVHIDLNEEEECAAHVLKDVFDKSSCVLGGSQEDEDVEIKFYTSKLGRAIHHFRSALQGVFQKLENSGSISPEDLESNESGSQSENSDRLLGTVSSGGAQDCSLESPGSQGSESLLSVVSGGVGVSTQGEQTPQDPSTFSLASNNSLPSVALAPCLGSETCSRPGSPKQGRLSLEQVCTETVYLNKCINNFKNVLREKRLRQKKLLHELVQKANRLSVEDIHSEEKRGALQIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 1990, "header": "tr|A0A1B0GVW8-1|A0A1B0GVW8_HUMAN Computationally mapped isoform of Unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=1 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35351527, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636694.1", "url": "https://www.ensembl.org/id/ENST00000636694.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490683.1", "url": "https://www.ensembl.org/id/ENSP00000490683.1" } ] } }, { "isoform_ac": "B1AM27-1", "url": "", "sequence": { "sequence": "MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCCHWTYLGWGEQQTFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 1622, "header": "tr|B1AM27-1|B1AM27_HUMAN Computationally mapped isoform of Unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=1 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35162284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396787.5", "url": "https://www.ensembl.org/id/ENST00000396787.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000380006.1", "url": "https://www.ensembl.org/id/ENSP00000380006.1" } ] } }, { "isoform_ac": "I6L9J0-1", "url": "", "sequence": { "sequence": "MPDLRRKKPLPLVSDLAMSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 1197, "header": "tr|I6L9J0-1|I6L9J0_HUMAN Computationally mapped isoform of UNC13B protein OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=1 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35370349, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000617908.4", "url": "https://www.ensembl.org/id/ENST00000617908.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484432.1", "url": "https://www.ensembl.org/id/ENSP00000484432.1" } ] } }, { "isoform_ac": "O14795-1", "url": "", "sequence": { "sequence": "MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS", "length": 1591, "header": "sp|O14795-1|UN13B_HUMAN Isoform 1 of Protein unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=2 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35162284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378495.7", "url": "https://www.ensembl.org/id/ENST00000378495.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000367756.3", "url": "https://www.ensembl.org/id/ENSP00000367756.3" } ] } }, { "isoform_ac": "O14795-2", "url": "", "sequence": { "sequence": 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"length": 1610, "header": "sp|O14795-2|UN13B_HUMAN Isoform 2 of Protein unc-13 homolog B OS=Homo sapiens OX=9606 GN=UNC13B PE=1 SV=2 CANONICAL=O14795-1" }, "locus": { "chromosome": "9", "start_pos": 35404030, "end_pos": 35162284, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619578.4", "url": "https://www.ensembl.org/id/ENST00000619578.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000479261.1", "url": "https://www.ensembl.org/id/ENSP00000479261.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1330, "start_aa": "Ser", "end_pos": 1330, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1330", "evidence": [ { "id": "O14795", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14795" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O14795", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14795" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1333, "start_aa": "Ser", "end_pos": 1333, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1333", "evidence": [ { "id": "O14795", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14795" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O14795", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14795" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 509, "start_aa": "Ser", "end_pos": 509, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser509", "evidence": [ { "id": "O14795", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14795" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O14795", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14795" } ] } ], "phosphorylation": [ { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14795", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795" } ], "site_lbl": "Ser16" }, { "start_pos": 176, "end_pos": 176, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14795", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795" } ], "site_lbl": "Ser176" }, { "start_pos": 295, "end_pos": 295, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14795", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795" } ], "site_lbl": "Ser295" }, { "start_pos": 367, "end_pos": 367, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14795", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O14795", "url": "http://phospho.elm.eu.org/byAccession/O14795.html" } ], "site_lbl": "Ser367" }, { "start_pos": 605, "end_pos": 605, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14795", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr605" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human munc13 is a diacylglycerol receptor that induces apoptosis and may contribute to renal cell injury in hyperglycemia.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "Song Y, Ailenberg M, Silverman M", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" } ], "reference": [ { "type": "PubMed", "id": "10233166", "url": "https://glygen.org/publication/PubMed/10233166" } ] }, { "title": "Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles.", "journal": "Nature", "date": "1999", "authors": "Augustin I, Rosenmund C, Sudhof TC, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10440375", "url": "https://glygen.org/publication/PubMed/10440375" } ] }, { "title": "Molecular cloning, sequencing and expression studies of the human breast cancer cell glutaminase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Gomez-Fabre PM, Aledo JC, Del Castillo-Olivares A, Alonso FJ, Nunez De Castro I, Campos JA, Marquez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "10620514", "url": "https://glygen.org/publication/PubMed/10620514" } ] }, { "title": "Identification of a vesicular glutamate transporter that defines a glutamatergic phenotype in neurons.", "journal": "Nature", "date": "2000", "authors": "Takamori S, Rhee JS, Rosenmund C, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11001057", "url": "https://glygen.org/publication/PubMed/11001057" } ] }, { "title": "Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing.", "journal": "Physiological genomics", "date": "1999", "authors": "Elgadi KM, Meguid RA, Qian M, Souba WW, Abcouwer SF", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11015561", "url": "https://glygen.org/publication/PubMed/11015561" } ] }, { "title": "Molecular cloning of a human, hemicholinium-3-sensitive choline transporter.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-264642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264642" } ], "reference": [ { "type": "PubMed", "id": "11027560", "url": "https://glygen.org/publication/PubMed/11027560" } ] }, { "title": "Functional characterization of the human high-affinity choline transporter.", "journal": "FEBS letters", "date": "2000", "authors": "Okuda T, Haga T", "evidence": [ { "database": "Reactome", "id": "R-HSA-264642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264642" } ], "reference": [ { "type": "PubMed", "id": "11068039", "url": "https://glygen.org/publication/PubMed/11068039" } ] }, { "title": "Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.", "journal": "Nature", "date": "2001", "authors": "Lin CI, Orlov I, Ruggiero AM, Dykes-Hoberg M, Lee A, Jackson M, Rothstein JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11242046", "url": "https://glygen.org/publication/PubMed/11242046" } ] }, { "title": "Glutamine uptake by neurons: interaction of protons with system a transporters.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "Chaudhry FA, Schmitz D, Reimer RJ, Larsson P, Gray AT, Nicoll R, Kavanaugh M, Edwards RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "11756489", "url": "https://glygen.org/publication/PubMed/11756489" } ] }, { "title": "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "12519779", "url": "https://glygen.org/publication/PubMed/12519779" } ] }, { "title": "Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions.", "journal": "Genomics", "date": "1992", "authors": "Toussaint JL, Geoffroy V, Schmitt M, Werner A, Garnier JM, Simoni P, Kempf J", "evidence": [ { "database": "Reactome", "id": "R-HSA-264642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264642" } ], "reference": [ { "type": "PubMed", "id": "1339386", "url": "https://glygen.org/publication/PubMed/1339386" } ] }, { "title": "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.", "journal": "Analytical chemistry", "date": "2004", "authors": "Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC", "evidence": [ { "database": "iPTMnet", "id": "O14795-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795-1" } ], "reference": [ { "type": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ] }, { "title": "Munc18-1 stabilizes syntaxin 1, but is not essential for syntaxin 1 targeting and SNARE complex formation.", "journal": "Journal of neurochemistry", "date": "2005", "authors": "Toonen RF, de Vries KJ, Zalm R, Sudhof TC, Verhage M", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "15935055", "url": "https://glygen.org/publication/PubMed/15935055" } ] }, { "title": "Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.", "journal": "Neurology", "date": "2005", "authors": "Jen JC, Wan J, Palos TP, Howard BD, Baloh RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "16116111", "url": "https://glygen.org/publication/PubMed/16116111" } ] }, { "title": "Localization of the Na(+)-coupled neutral amino acid transporter 2 in the cerebral cortex.", "journal": "Neuroscience", "date": "2006", "authors": "Melone M, Varoqui H, Erickson JD, Conti F", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "16616430", "url": "https://glygen.org/publication/PubMed/16616430" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O14795", "url": "https://www.uniprot.org/uniprot/O14795" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Munc18-1 binds directly to the neuronal SNARE complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Dulubova I, Khvotchev M, Liu S, Huryeva I, Sudhof TC, Rizo J", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17301226", "url": "https://glygen.org/publication/PubMed/17301226" } ] }, { "title": "How synaptotagmin promotes membrane fusion.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Martens S, Kozlov MM, McMahon HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17478680", "url": "https://glygen.org/publication/PubMed/17478680" } ] }, { "title": "Identification of the substrate binding region of vesicular monoamine transporter-2 (VMAT-2) using iodoaminoflisopolol as a novel photoprobe.", "journal": "Molecular pharmacology", "date": "2007", "authors": "Gopalakrishnan A, Sievert M, Ruoho AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "17766642", "url": "https://glygen.org/publication/PubMed/17766642" } ] }, { "title": "Synaptotagmin activates membrane fusion through a Ca2+-dependent trans interaction with phospholipids.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Stein A, Radhakrishnan A, Riedel D, Fasshauer D, Jahn R", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17891149", "url": "https://glygen.org/publication/PubMed/17891149" } ] }, { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "O14795-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14795-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Dual modes of Munc18-1/SNARE interactions are coupled by functionally critical binding to syntaxin-1 N terminus.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Khvotchev M, Dulubova I, Sun J, Dai H, Rizo J, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "17989281", "url": "https://glygen.org/publication/PubMed/17989281" } ] }, { "title": "Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3.", "journal": "Neuron", "date": "2008", "authors": "Seal RP, Akil O, Yi E, Weber CM, Grant L, Yoo J, Clause A, Kandler K, Noebels JL, Glowatzki E, Lustig LR, Edwards RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-210500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-210500" } ], "reference": [ { "type": "PubMed", "id": "18215623", "url": "https://glygen.org/publication/PubMed/18215623" } ] }, { "title": "Syntaxin 1A interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux.", "journal": "Molecular pharmacology", "date": "2008", "authors": "Binda F, Dipace C, Bowton E, Robertson SD, Lute BJ, Fog JU, Zhang M, Sen N, Colbran RJ, Gnegy ME, Gether U, Javitch JA, Erreger K, Galli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-212676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-212676" } ], "reference": [ { "type": "PubMed", "id": "18617632", "url": "https://glygen.org/publication/PubMed/18617632" 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experimental and clinical research", "date": "2019", "authors": "Wang Y, Tan J, Liu D, Yang Y, Wu H", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" } ], "reference": [ { "type": "PubMed", "id": "31713534", "url": "https://glygen.org/publication/PubMed/31713534" } ] }, { "title": "Munc13 mediates klotho-inhibitable diacylglycerol-stimulated exocytotic insertion of pre-docked TRPC6 vesicles.", "journal": "PloS one", "date": "2020", "authors": "Xie J, An SW, Jin X, Gui Y, Huang CL", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" } ], "reference": [ { "type": "PubMed", "id": "32134975", "url": "https://glygen.org/publication/PubMed/32134975" } ] }, { "title": "Purification of phosphate-dependent glutaminase from isolated mitochondria of Ehrlich ascites-tumour cells.", "journal": "The Biochemical journal", "date": "1988", "authors": "Quesada AR, 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vesicle priming for neurotransmitter release.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2022", "authors": "Grushin K, Kalyana Sundaram RV, Sindelar CV, Rothman JE", "evidence": [ { "database": "RefSeq", "id": "NP_001317582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317582" } ], "reference": [ { "type": "PubMed", "id": "35135883", "url": "https://glygen.org/publication/PubMed/35135883" } ] }, { "title": "Biochemistry and molecular biology of the vesicular monoamine transporter from chromaffin granules.", "journal": "The Journal of experimental biology", "date": "1994", "authors": "Henry JP, Botton D, Sagne C, Isambert MF, Desnos C, Blanchard V, Raisman-Vozari R, Krejci E, Massoulie J, Gasnier B", "evidence": [ { "database": "Reactome", "id": "R-HSA-181429", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181429" } ], "reference": [ { "type": "PubMed", "id": "7823026", "url": 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