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Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.", "evidence": [ { "database": "UniProtKB", "id": "A0FGR9", "url": "https://www.uniprot.org/uniprot/A0FGR9#function" }, { "database": "PubMed", "id": "23791178", "url": "https://glygen.org/publication/PubMed/23791178" } ] }, { "annotation": "Comprehensive analysis of the prognostic values and immune implication of ESYT3 in lung adenocarcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" }, { "database": "PubMed", "id": "37657044", "url": "https://glygen.org/publication/PubMed/37657044" } ] }, { "annotation": "ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1. Erratum:[J Biol Chem. 2016 Feb 12;291(7):3173. PMID: 26873909]", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" }, { "database": "PubMed", "id": "25922075", "url": "https://glygen.org/publication/PubMed/25922075" } ] }, { "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": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" }, { "database": "PubMed", "id": "21733517", "url": "https://glygen.org/publication/PubMed/21733517" } ] }, { "annotation": "Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" }, { "database": "PubMed", "id": "34197731", "url": "https://glygen.org/publication/PubMed/34197731" } ] } 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OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1" }, "locus": { "chromosome": "3", "start_pos": 138476851, "end_pos": 138434799, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389567.9", "url": "https://www.ensembl.org/id/ENST00000389567.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000374218.4", "url": "https://www.ensembl.org/id/ENSP00000374218.4" } ] } }, { "isoform_ac": "A0FGR9-2", "url": "", "sequence": { "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFLESACNLPRNPFDYLNGEYRAKKLSRFARVKQGQQRPFFLCQTICRQEDTYK", "length": 501, "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" }, "locus": { "chromosome": "3", "start_pos": 138469500, "end_pos": 138434799, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490835.5", "url": "https://www.ensembl.org/id/ENST00000490835.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417388.1", "url": "https://www.ensembl.org/id/ENSP00000417388.1" } ] } }, { "isoform_ac": "H7BXJ6-1", "url": "", "sequence": { "sequence": "MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRNRRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIREKSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVILEPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLRFPLPCVSTQY", "length": 310, "header": "tr|H7BXJ6-1|H7BXJ6_HUMAN Computationally mapped isoform of Extended synaptotagmin 3 OS=Homo sapiens OX=9606 GN=ESYT3 PE=1 SV=1 CANONICAL=A0FGR9-1" }, "locus": { "chromosome": "3", "start_pos": 138462221, "end_pos": 138434799, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000289135.4", "url": "https://www.ensembl.org/id/ENST00000289135.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000289135.4", "url": "https://www.ensembl.org/id/ENSP00000289135.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 366, "end_pos": 366, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0FGR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0FGR9" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Tyr366" }, { "start_pos": 390, "end_pos": 390, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0FGR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0FGR9" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser390" }, { "start_pos": 400, "end_pos": 400, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0FGR9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0FGR9" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr400" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Genomic analysis of synaptotagmin genes.", "journal": "Genomics", "date": "2001", "authors": "Craxton M", "evidence": [ { "database": "UniProtKB", "id": "A0FGR9", "url": "https://www.uniprot.org/uniprot/A0FGR9" } ], "reference": [ { "type": "PubMed", "id": "11543631", "url": "https://glygen.org/publication/PubMed/11543631" } ] }, { "title": "FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P.", "journal": "Nature cell biology", "date": "2004", "authors": "Godi A, Di Campli A, Konstantakopoulos A, Di Tullio G, Alessi DR, Kular GS, Daniele T, Marra P, Lucocq JM, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "15107860", "url": "https://glygen.org/publication/PubMed/15107860" } ] }, { "title": "Structural basis for glycosphingolipid transfer specificity.", "journal": "Nature", "date": "2004", "authors": "Malinina L, Malakhova ML, Teplov A, Brown RE, Patel DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "15329726", "url": "https://glygen.org/publication/PubMed/15329726" } ] }, { "title": "FAPP2 is involved in the transport of apical cargo in polarized MDCK cells.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Vieira OV, Verkade P, Manninen A, Simons K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "16103222", "url": "https://glygen.org/publication/PubMed/16103222" } ] }, { "title": "The liganding of glycolipid transfer protein is controlled by glycolipid acyl structure.", "journal": "PLoS biology", "date": "2006", "authors": "Malinina L, Malakhova ML, Kanack AT, Lu M, Abagyan R, Brown RE, Patel DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "17105344", "url": "https://glygen.org/publication/PubMed/17105344" } ] }, { "title": "E-Syts, a family of membranous Ca2+-sensor proteins with multiple C2 domains.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Min Sang-Won, Chang Wen-Pin, S\u00fcdhof Thomas C", "evidence": [ { "database": "UniProtKB", "id": "A0FGR9", "url": "https://www.uniprot.org/uniprot/A0FGR9" } ], "reference": [ { "type": "PubMed", "id": "17360437", "url": "https://glygen.org/publication/PubMed/17360437" } ] }, { "title": "Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide.", "journal": "Nature", "date": "2007", "authors": "D'Angelo G, Polishchuk E, Di Tullio G, Santoro M, Di Campli A, Godi A, West G, Bielawski J, Chuang CC, van der Spoel AC, Platt FM, Hannun YA, Polishchuk R, Mattjus P, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "17687330", "url": "https://glygen.org/publication/PubMed/17687330" } ] }, { "title": "Human glycolipid transfer protein--intracellular localization and effects on the sphingolipid synthesis.", "journal": "Biochimica et biophysica acta", "date": "2007", "authors": "Tuuf J, Mattjus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "17980653", "url": "https://glygen.org/publication/PubMed/17980653" } ] }, { "title": "CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.", "journal": "Pediatric research", "date": "2008-06", "authors": "Rusyn Elena, Mousallem Talal, Persaud-Sawin Dixie-Ann, Miller Sara, Boustany Rose-Mary N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "18317235", "url": "https://glygen.org/publication/PubMed/18317235" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "A0FGR9-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0FGR9-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Golgi protein FAPP2 tubulates membranes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Cao X, Coskun U, Rossle M, Buschhorn SB, Grzybek M, Dafforn TR, Lenoir M, Overduin M, Simons K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "19940249", "url": "https://glygen.org/publication/PubMed/19940249" } ] }, { "title": "Fine mapping of chromosome 3q22.3 identifies two haplotype blocks in ESYT3 associated with coronary artery disease in female Han Chinese.", "journal": "Atherosclerosis", "date": "2011", "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", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" } ], "reference": [ { "type": "PubMed", "id": "21733517", "url": "https://glygen.org/publication/PubMed/21733517" } ] }, { "title": "Ceramide glycosylation catalyzed by glucosylceramide synthase and cancer drug resistance.", "journal": "Advances in cancer research", "date": "2013", "authors": "Liu YY, Hill RA, Li YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "23290777", "url": "https://glygen.org/publication/PubMed/23290777" } ] }, { "title": "PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.", "journal": "Cell", "date": "2013", "authors": "Giordano F, Saheki Y, Idevall-Hagren O, Colombo SF, Pirruccello M, Milosevic I, Gracheva EO, Bagriantsev SN, Borgese N, De Camilli P", "evidence": [ { "database": "UniProtKB", "id": "A0FGR9", "url": "https://www.uniprot.org/uniprot/A0FGR9" }, { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "23791178", "url": "https://glygen.org/publication/PubMed/23791178" } ] }, { "title": "Non-vesicular trafficking by a ceramide-1-phosphate transfer protein regulates eicosanoids.", "journal": "Nature", "date": "2013", "authors": "Simanshu DK, Kamlekar RK, Wijesinghe DS, Zou X, Zhai X, Mishra SK, Molotkovsky JG, Malinina L, Hinchcliffe EH, Chalfant CE, Brown RE, Patel DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "23863933", "url": "https://glygen.org/publication/PubMed/23863933" } ] }, { "title": "Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Tremblay MG, Herdman C, Guillou F, Mishra PK, Baril J, Bellenfant S, Moss T", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" } ], "reference": [ { "type": "PubMed", "id": "25922075", "url": "https://glygen.org/publication/PubMed/25922075" } ] }, { "title": "Triggered Ca2+ influx is required for extended synaptotagmin 1-induced ER-plasma membrane tethering.", "journal": "The EMBO journal", "date": "2015", "authors": "Idevall-Hagren O, Lu A, Xie B, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "26202220", "url": "https://glygen.org/publication/PubMed/26202220" } ] }, { "title": "Aster proteins facilitate nonvesicular plasma membrane to ER cholesterol transport in mammalian cells.", "journal": "Cell", "date": "2018", "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", "evidence": [ { "database": "UniProtKB", "id": "A0FGR9", "url": "https://www.uniprot.org/uniprot/A0FGR9" } ], "reference": [ { "type": "PubMed", "id": "30220461", "url": "https://glygen.org/publication/PubMed/30220461" } ] }, { "title": "The CLN3 gene and protein: What we know.", "journal": "Molecular genetics & genomic medicine", "date": "2019", "authors": "Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett LJ, Palmieri M, Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "31568712", "url": "https://glygen.org/publication/PubMed/31568712" } ] }, { "title": "Emerging roles for human glycolipid transfer protein superfamily members in the regulation of autophagy, inflammation, and cell death.", "journal": "Progress in lipid research", "date": "2020", "authors": "Mishra SK, Gao YG, Zou X, Stephenson DJ, Malinina L, Hinchcliffe EH, Chalfant CE, Brown RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "32339554", "url": "https://glygen.org/publication/PubMed/32339554" } ] }, { "title": "Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.", "journal": "American journal of human genetics", "date": "2021", "authors": "Li Q, Chen W, Wang C, Liu Z, Gu Y, Xu X, Xu J, Jiang T, Xu M, Wang Y, Chen C, Zhong Y, Zhang Y, Yao L, Jin G, Hu Z, Zhou P", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" } ], "reference": [ { "type": "PubMed", "id": "34197731", "url": "https://glygen.org/publication/PubMed/34197731" } ] }, { "title": "Ceramide-1-phosphate and its transfer proteins in eukaryotes.", "journal": "Chemistry and physics of lipids", "date": "2021", "authors": "Zhang Y, Zhang X, Lu M, Zou X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9845576", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576" } ], "reference": [ { "type": "PubMed", "id": "34499882", "url": "https://glygen.org/publication/PubMed/34499882" } ] }, { "title": "Comprehensive analysis of the prognostic values and immune implication of ESYT3 in lung adenocarcinoma.", "journal": "Medicine", "date": "2023-09-01", "authors": "Li Xuedong, Chen Jianlin, Meng Jie", "evidence": [ { "database": "RefSeq", "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760" } ], "reference": [ { "type": "PubMed", "id": "37657044", "url": "https://glygen.org/publication/PubMed/37657044" } ] } ], "pathway": [ { "id": "hsa:83850", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:83850", "resource": "KEGG Pathway" }, { "id": "R-HSA-9845576", "name": "Glycosphingolipid transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9845576", "resource": "Reactome", "description": "Glycosphingolipid transport" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZC04-1", "protein_name": "Extended synaptotagmin 3", "gene_name": "Esyt3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQPEESCAGSAPPGPDVPERRQRSPDPEPRLSGQLLPELYSFVARVLFYLAPVYLAGYLGLSVTWLLLGALLWMWWRRNRRGKLGRLEAAFEFLEHEREFISRELRGQHLPAWIHFPDVERVEWANKIITQIWPYLSMIMENKIREKLEPKIREKSIHLRTFTFTKLYFGQKCPKVNGVKAHTDKCNRRKVTLDLQICYIGDCEISVELQKIRAGVNGVQLQGTLRVILEPLLVDKPFIGAVTVFFLQKPHLQINWTGLTNLLDMPGINELSDSLLEDLIAAHLVLPNRVTVPVKKGLDITSLRVPLPCGVIRVHLLEAKKLAQKDNFLGLGGKSDPYAKVSIGLQQCRSRTVYKNLNPTWNEVFEFMVYEVPGQDLEVDLYDEDADRDDFLGSLQISLGDVMKNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDPEALENDSGLSTAILVVFLENACNLPRNPFDYLNGEYRAKKLSRFVKNKASRDPSSYVKLSVGKKTFTSKTCPHSKDPVWSQVFSFFVHSVAAEQLCLKVLDDELECALGVLEFPLCQILSCADLTLEQCFQLDHSGLDSLISMRLVLRFLRVGERELGSPYTGPDALKKGPLFVKKVDTNQGCKAPTLKEDLTDVTSILNPASYIKGASKSTDNISVATKAPEPKPEPQETGLEPKGKDGATGLCESLGRKKNPATTFLTVPGPHSPGPIKSPRPMSRPAFPFAWPLTRVAPSMSSLNSLASSCFDLTDVSFNTESGDCRLRRLGEIQLTVRYVCLRHCLRVLVNGCRNLTPCTSSGADPYVRIYLLPERRWASRKKTSVKQKTLEPLFDETFEFFVPMGEVQKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKQDLIKGFSQWYELTPDGQPRS", "length": 890 }, "evidence": [ { "id": "45920821", "url": 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