{ "uniprot_canonical_ac": "A0FGR9-1", "sequence": { "header": "sp|A0FGR9-1|ESYT3_HUMAN Isoform 1 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 886, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARNKVSKDPSSYVKLSVGKKTHTSKTCPHNKDPVWSQVFSFFVHNVATERLHLKVLDDDQECALGMLEVPLCQILPYADLTLEQRFQLDHSGLDSLISMRLVLRFLQVEERELGSPYTGPEALKKGPLLIKKVATNQGPKAQPQEEGPTDLPCPPDPASDTKDVSRSTTTTTSATTVATEPTSQETGPEPKGKDSAKRFCEPIGEKKSPATIFLTVPGPHSPGPIKSPRPMKCPASPFAWPPKRLAPSMSSLNSLASSCFDLADISLNIEGGDLRRRQLGEIQLTVRYVCLRRCLSVLINGCRNLTPCTSSGADPYVRVYLLPERKWACRKKTSVKRKTLEPLFDETFEFFVPMEEVKKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKEDLIKGFSQWYELTPNGQPRS" }, "uniprot_id": "ESYT3_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "extended synaptotagmin-3 isoform a", "family with sequence similarity 62 (C2 domain containing), member C; chr3 synaptotagmin; extended synaptotagmin protein 3" ], "uniprotkb": [ "Extended synaptotagmin-3", "E-Syt3", "Chr3Syt" ] }, "gene": { "refseq": [ "ESYT3", "CHR3SYT", "E-Syt3", "FAM62C" ], "uniprotkb": [ "ESYT3", "FAM62C", "CHR3SYT", "E-Syt3" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Extended synaptotagmin-3; E-Syt3; Chr3Syt.", "short": "E-Syt3" }, "publication": [ { "title": "Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30220461", "journal": "Cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9/publications", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Sandhu J, Li S, Fairall L, Pfisterer SG, Gurnett JE, Xiao X, Weston TA, Vashi D, Ferrari A, Orozco JL, Hartman CL, Strugatsky D, Lee SD, He C, Hong C, Jiang H, Bentolila LA, Gatta AT, Levine TP, Ferng A, Lee R, Ford DA, Young SG, Ikonen E, Schwabe JWR, Tontonoz P", "date": "2018", "pmid": "30220461" }, { "title": "Control of plasma membrane lipid homeostasis by the extended synaptotagmins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27065097", "journal": "Nature cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Saheki Y, Bian X, Schauder CM, Sawaki Y, Surma MA, Klose C, Pincet F, Reinisch KM, De Camilli P", "date": "2016", "pmid": "27065097" }, { "title": "Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25922075", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Tremblay MG, Herdman C, Guillou F, Mishra PK, Baril J, Bellenfant S, Moss T", "date": "2015", "pmid": "25922075" }, { "title": "PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23791178", "journal": "Cell", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0FGR9/publications", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Giordano F, Saheki Y, Idevall-Hagren O, Colombo SF, Pirruccello M, Milosevic I, Gracheva EO, Bagriantsev SN, Borgese N, De Camilli P", "date": "2013", "pmid": "23791178" }, { "title": "Fine mapping of chromosome 3q22.3 identifies two haplotype blocks in ESYT3 associated with coronary artery disease in female Han Chinese.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21733517", "journal": "Atherosclerosis", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Jiang F, Dong Y, Wu C, Yang X, Zhao L, Guo J, Li Y, Dong J, Zheng GY, Cao H, Jin L, Ren Y, Cheng W, Li W, Tian XL, Li X", "date": "2011", "pmid": "21733517" }, { "title": "E-Syts, a family of membranous Ca2+-sensor proteins with multiple C2 domains.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17360437", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9/publications", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Suedhof T.C., Chang W.-P., Min S.-W.", "date": "2007", "pmid": "17360437" }, { "title": "Evolutionary genomics of plant genes encoding N-terminal-TM-C2 domain proteins and the similar FAM62 genes and synaptotagmin genes of metazoans.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/17672888", "journal": "BMC genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ], "authors": "Craxton M", "date": "2007", "pmid": "17672888" }, { "title": "Genomic analysis of synaptotagmin genes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11543631", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9/publications", "id": "A0FGR9", "database": "UniProtKB" } ], "authors": "Craxton M.A.", "date": "2001", "pmid": "11543631" } ], "glycosylation": [], "mutation": [ { "start_pos": 415, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "1.3", "annotation": "Filters passed (1/5): patient freq. (1.3%).", "sequence_org": "S", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "I", "subjects_tested": "78", "end_pos": 415, "type": "Point mutation" }, { "start_pos": 296, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "L", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "V", "subjects_tested": "48", "end_pos": 296, "type": "Point mutation" }, { "start_pos": 806, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "C", "subjects_tested": "558", "end_pos": 806, "type": "Point mutation" }, { "start_pos": 857, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "G", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "R", "subjects_tested": "103", "end_pos": 857, "type": "Point mutation" }, { "start_pos": 301, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 301, "type": "Point mutation" }, { "start_pos": 370, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 370, "type": "Point mutation" }, { "start_pos": 662, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "T", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "S", "subjects_tested": "66", "end_pos": 662, "type": "Point mutation" }, { "start_pos": 359, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "E", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "sequence_mut": "K", "subjects_tested": "1044", "end_pos": 359, "type": "Point mutation" }, { "start_pos": 359, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "E", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "K", "subjects_tested": "558", "end_pos": 359, "type": "Point mutation" }, { "start_pos": 806, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "R", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "C", "subjects_tested": "1144", "end_pos": 806, "type": "Point mutation" }, { "start_pos": 28, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 28, "type": "Point mutation" }, { "start_pos": 359, "subjects_positive": "3", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "E", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "sequence_mut": "K", "subjects_tested": "820", "end_pos": 359, "type": "Point mutation" }, { "start_pos": 17, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. 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(2.0%).", "sequence_org": "H", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "N", "subjects_tested": "50", "end_pos": 528, "type": "Point mutation" }, { "start_pos": 565, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "D", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 565, "type": "Point mutation" }, { "start_pos": 277, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 277, "type": "Point mutation" }, { "start_pos": 244, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0FGR9", "id": "A0FGR9", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 244, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#A0FGR9-2", "isoform_ac": "A0FGR9-2", "locus": { "end_pos": 138434799, "start_pos": 138469500, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000490835", "id": "ENST00000490835", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417388", "id": "ENSP00000417388", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0FGR9-2|ESYT3_HUMAN Isoform 2 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 501, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARVKQGQQRPFFLCQTICRQEDTYK" } }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#H7BXJ6-1", "isoform_ac": "H7BXJ6-1", "locus": { "end_pos": 138434799, "start_pos": 138462221, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000289135", "id": "ENST00000289135", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000289135", "id": "ENSP00000289135", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BXJ6-1|ESYT3_HUMAN Computationally mapped isoform of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 310, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCVSTQY" } }, { "url": "https://www.uniprot.org/uniprot/A0FGR9#A0FGR9-1", "isoform_ac": "A0FGR9-1", "locus": { "end_pos": 138434799, "start_pos": 138476851, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389567", "id": "ENST00000389567", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374218", "id": "ENSP00000374218", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0FGR9-1|ESYT3_HUMAN Isoform 1 of Extended synaptotagmin-3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1", "length": 886, "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARNKVSKDPSSYVKLSVGKKTHTSKTCPHNKDPVWSQVFSFFVHNVATERLHLKVLDDDQECALGMLEVPLCQILPYADLTLEQRFQLDHSGLDSLISMRLVLRFLQVEERELGSPYTGPEALKKGPLLIKKVATNQGPKAQPQEEGPTDLPCPPDPASDTKDVSRSTTTTTSATTVATEPTSQETGPEPKGKDSAKRFCEPIGEKKSPATIFLTVPGPHSPGPIKSPRPMKCPASPFAWPPKRLAPSMSSLNSLASSCFDLADISLNIEGGDLRRRQLGEIQLTVRYVCLRRCLSVLINGCRNLTPCTSSGADPYVRVYLLPERKWACRKKTSVKRKTLEPLFDETFEFFVPMEEVKKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKEDLIKGFSQWYELTPNGQPRS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:83850", "resource": "KEGG Pathway", "id": "hsa:83850", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660662", "resource": "Reactome", "id": "R-HSA-1660662", "name": "Glycosphingolipid metabolism" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#function", "annotation": "Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9#function", "id": "A0FGR9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1. Erratum:[J Biol Chem. 2016 Feb 12;291(7):3173. PMID: 26873909]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "The extended synaptotagmins (E-Syt1, E-Syt2, and E-Syt3) are endoplasmic reticulum-anchored proteins. They form homo- and heteromeric complexes that mediate contacts with the plasma membrane. Such contacts are critically dependent on the presence of PI(4,5)P2 in this membrane and are additionally regulated by cytosolic Ca2+ via the Ca2+-sensing property of E-Syt1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "annotation": "Two haplotype blocks of ESYT3 gene in 3q22.3 region that likely harbor functional variants and have a role in coronary artery disease in females", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZC04-1", "protein_name": "Extended synaptotagmin 3.", "sequence": { "length": 890, "sequence": "MQPEESCAGSAPPGPDVPERRQRSPDPEPRLSGQLLPELYSFVARVLFYLAPVYLAGYLGLSVTWLLLGALLWMWWRRNRRGKLGRLEAAFEFLEHEREFISRELRGQHLPAWIHFPDVERVEWANKIITQIWPYLSMIMENKIREKLEPKIREKSIHLRTFTFTKLYFGQKCPKVNGVKAHTDKCNRRKVTLDLQICYIGDCEISVELQKIRAGVNGVQLQGTLRVILEPLLVDKPFIGAVTVFFLQKPHLQINWTGLTNLLDMPGINELSDSLLEDLIAAHLVLPNRVTVPVKKGLDITSLRVPLPCGVIRVHLLEAKKLAQKDNFLGLGGKSDPYAKVSIGLQQCRSRTVYKNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDADRDDFLGSLQISLGDVMKNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDPEALENDSGLSTAILVVFLENACNLPRNPFDYLNGEYRAKKLSRFVKNKASRDPSSYVKLSVGKKTFTSKTCPHSKDPVWSQVFSFFVHSVAAEQLCLKVLDDELECALGVLEFPLCQILSCADLTLEQCFQLDHSGLDSLISMRLVLRFLRVGERELGSPYTGPDALKKGPLFVKKVDTNQGCKAPTLKEDLTDVTSILNPASYIKGASKSTDNISVATKAPEPKPEPQETGLEPKGKDGATGLCESLGRKKNPATTFLTVPGPHSPGPIKSPRPMSRPAFPFAWPLTRVAPSMSSLNSLASSCFDLTDVSFNTESGDCRLRRLGEIQLTVRYVCLRHCLRVLVNGCRNLTPCTSSGADPYVRIYLLPERRWASRKKTSVKQKTLEPLFDETFEFFVPMGEVQKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKQDLIKGFSQWYELTPDGQPRS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0FGR9/", "id": "A0FGR9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18626", "id": "18626", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5DTI8-1", "protein_name": "Extended synaptotagmin-3; E-Syt3.", "sequence": { "length": 891, "sequence": "MQPEEPCAPSAPGGPDVPERGQRSRDPGPRLSGQLLPELYSFVARVLFYLAPVYLAGYLGLSVTWLLLGALLWMWWRRNRRGKLGRLEAAFEFLEHEREFISRELRGQHLPAWIHFPDVERVEWANKIIIQIWPYLSMIMENKIREKLEPKIREKSIHLRTFTFTKLYFGQKCPKVNGVKVHTDKRNRRKVTLDLQICYIGDCEISVELQKIRGGVSGVQLQGTLRVILEPLLVDKPFIGAVTVFFLQKPHLQINWTGLTNLLDMPGINELSDSLLEDLIAAHLVLPNRVTVPVKKGLDVTNLRVPLPCGVIRVHLLEAKKLAQKDNFLGLGGKSDPYAKVSIGLQHCRSRTIYKNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDKDDFLGSLQICLGDVMKNRVVDEWFALNDTTSGRLHLRLEWLSLLTDQEALTENDSGLSTAILVVFLENACNLPRNPFDYLNGEYRAKKLSRFVKNKASRDPSSYVKLTVGKKTFTSKTCPHSKDPVWSQVFSFFVHSVAAEQLCLKVLDDELECALGVLEFPLCRILPCADLTLEQCFQLDHSGLDSLISMRLVLRFLRVEGRELGSPYTGPDALKKGPLFIKKVATNQGCKAPPLNEGLADVTSTSNPASYIKGASKSIDNISAATTDPEPMPEPQGPGPEPKGKDSARGLCESPGKKKNPATTFLTVPGLHSPGPIKSPRPMSRPAFPFAWPLTRVAPSMSSLNSLASSCFDLTDVSLNTEAGDSRQGRLGEIQLTVRYVCLRHCLRVLVNGCRNLTPCTSSGADPYVRIYLLPERRWASRKKTSVKQKTLEPLFDETFEFFVPMGEVQKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKQDLIKGFSQWYELTADGQPRS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0FGR9/", "id": "A0FGR9", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18626", "id": "18626", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "ac": "NP_001309760.1", "name": "extended synaptotagmin-3 isoform a; family with sequence similarity 62 (C2 domain containing), member C; chr3 synaptotagmin; extended synaptotagmin protein 3.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "calcium ion binding", "id": "GO:0005509" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "calcium-dependent phospholipid binding", "id": "GO:0005544" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008429", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylethanolamine binding", "id": "GO:0008429" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylcholine binding", "id": "GO:0031210" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "phosphatidylinositol binding", "id": "GO:0035091" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031227", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "intrinsic component of endoplasmic reticulum membrane", "id": "GO:0031227" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044232", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "organelle membrane contact site", "id": "GO:0044232" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140268", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum-plasma membrane contact site", "id": "GO:0140268" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "lipid transport", "id": "GO:0006869" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006687", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "glycosphingolipid metabolic process", "id": "GO:0006687" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061817", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0FGR9", "id": "A0FGR9", "database": "UniProtKB" } ], "name": "endoplasmic reticulum-plasma membrane tethering", "id": "GO:0061817" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 253, "annotation": "n_glycosylation_sequon", "start_pos": 251 }, { "end_pos": 413, "annotation": "n_glycosylation_sequon", "start_pos": 411 }, { "end_pos": 782, "annotation": "n_glycosylation_sequon", "start_pos": 780 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760.1", "id": "NP_001309760.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24295", "id": "24295", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A0FGR9", "id": "A0FGR9", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A0FGR9", "id": "NX_A0FGR9", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ESYT3", "id": "ESYT3", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660662", "id": "R-HSA-1660662", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:83850", "id": "hsa:83850", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/FPLCQIL/", "id": "FPLCQIL", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04030", "id": "cd04030", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04050", "id": "cd04050", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08391", "id": "cd08391", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000008", "id": "IPR000008", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035892", "id": "IPR035892", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR031468", "id": "IPR031468", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037733", "id": "IPR037733", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037749", "id": "IPR037749", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037752", "id": "IPR037752", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR039010", "id": "IPR039010", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00168", "id": "PF00168", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF17047", "id": "PF17047", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0FGR9", "id": "PR_A0FGR9", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0FGR9*", "id": "A0FGR9", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/83850", "id": "83850", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0FGR9", "id": "A0FGR9", "database": "BioXpress" } ] } ], "uniprot_ac": "A0FGR9", "disease": [], "mass": { "monoisotopic_mass": 100035.0, "chemical_mass": 100035.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158220", "id": "ENSG00000158220", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", 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