{ "uniprot_canonical_ac": "O14810-1", "uniprot_ac": "O14810", "uniprot_id": "CPLX1_HUMAN", "mass": { "chemical_mass": 15030.0, "monoisotopic_mass": 15030.0 }, "refseq": { "ac": "NP_006642", "name": "complexin-1", "summary": "Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, "gene_names": [ { "name": "CPLX1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14810", "id": "O14810" }, { "name": "CPLX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642", "id": "NP_006642" }, { "name": "CPX-I; CPX1; DEE63; EIEE63", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642", "id": "NP_006642" } ], "protein_names": [ { "name": "Complexin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14810" }, { "name": "CPX I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14810" }, { "name": "Complexin I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14810" }, { "name": "Synaphin-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14810" }, { "name": "complexin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642", "id": "NP_006642" }, { "name": "synaphin 2; CPX I; complexin I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642", "id": "NP_006642" } ], "function": [ { "annotation": "Data define CPLX1 as a PD risk factor and provide functional insights into the role and regulation of blood SNCA levels. The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, { "database": "PubMed", "id": "28108469", "url": "https://glygen.org/publication/PubMed/28108469" } ] }, { "annotation": "Findings do not support microRNA137 (MIR137) and complexin 1 (CPLX1) conferring susceptibility to schizophrenia in Han Chinese. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, { "database": "PubMed", "id": "29118371", "url": "https://glygen.org/publication/PubMed/29118371" } ] }, { "annotation": "Homozygous CPLX1 variants were identified in three patients with severe infantile myoclonic epilepsy and ID.", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, { "database": "PubMed", "id": "28422131", "url": "https://glygen.org/publication/PubMed/28422131" } ] }, { "annotation": "Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.", "evidence": [ { "database": "UniProtKB", "id": "O14810", "url": "https://www.uniprot.org/uniprot/O14810#function" }, { "database": "UniProtKB", "id": "P63040", "url": "https://www.uniprot.org/uniprot/P63040#function" }, { "database": "PubMed", "id": "21785414", "url": "https://glygen.org/publication/PubMed/21785414" } ] }, { "annotation": "Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" } ] }, { "annotation": "Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, { "database": "PubMed", "id": "32401194", "url": "https://glygen.org/publication/PubMed/32401194" } ] }, { "annotation": "This study demonstrated that complexin-I influence cognitive function in early and late stages of Alzheimer's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_006642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006642" }, { "database": "PubMed", "id": "27866231", "url": "https://glygen.org/publication/PubMed/27866231" } ] } ], "disease": [ { "disease_id": "DOID:0080426", "recommended_name": { "id": "DOID:0080426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080426", "name": "developmental and epileptic encephalopathy 63", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile 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"score": "58.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "74.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "57.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "67.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168993", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168993" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14810", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14810" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": 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"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": 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"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": "Transport rates of GABA transporters: regulation by the N-terminal domain and syntaxin 1A.", "journal": "Nature neuroscience", "date": "2000", "authors": "Deken SL, Beckman ML, Boos L, Quick MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-888590", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-888590" } ], "reference": [ { "type": "PubMed", "id": "11017172", "url": "https://glygen.org/publication/PubMed/11017172" } ] }, { "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": "Cerebellar synaptic protein expression in schizophrenia.", "journal": "Neuroscience", "date": "2001", "authors": "Eastwood S L, Cotter D, Harrison P J", "evidence": [ { "database": "UniProtKB", "id": "O14810", "url": "https://www.uniprot.org/uniprot/O14810" } ], "reference": [ { "type": "PubMed", "id": "11483314", "url": "https://glygen.org/publication/PubMed/11483314" } ] }, { "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": "The SLC32 transporter, a key protein for the synaptic release of inhibitory amino acids.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2004", "authors": "Gasnier B", "evidence": [ { "database": "Reactome", "id": "R-HSA-888590", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-888590" } ], "reference": [ { "type": "PubMed", "id": "12750892", "url": "https://glygen.org/publication/PubMed/12750892" } ] }, { "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": 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] }, { "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 role of SNARE proteins in trafficking and function of neurotransmitter transporters.", "journal": "Handbook of experimental pharmacology", "date": "2006", "authors": "Quick MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-888590", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-888590" } ], "reference": [ { "type": "PubMed", "id": "16722236", "url": "https://glygen.org/publication/PubMed/16722236" } ] }, { "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, 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