{ "uniprot_canonical_ac": "P0DPD8-1", "uniprot_ac": "P0DPD8", "uniprot_id": "EFCE2_HUMAN", "mass": { "chemical_mass": 99773.0, "monoisotopic_mass": 99773.0 }, "refseq": { "ac": "NP_001032401", "name": "endothelin-converting enzyme 2 isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, "gene_names": [ { "name": "EEF1AKMT4-ECE2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DPD8", "id": "P0DPD8" }, { "name": "ECE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" }, { "name": "EEF1AKMT4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" } ], "protein_names": [ { "name": "EEF1AKMT4-ECE2 readthrough transcript protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DPD8" }, { "name": "3.4.24.71", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0DPD8" }, { "name": "EEF1A lysine methyltransferase 4; EEF1AKMT4-ECE2; EEF1AKMT4-ECE2 readthrough transcript protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" }, { "name": "endothelin-converting enzyme 2 isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "id": "NP_001032401" } ], "function": [ { "annotation": "Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P0DPD8", "url": "https://www.uniprot.org/uniprot/P0DPD8#function" }, { "database": "UniProtKB", "id": "P0DPD9", "url": "https://www.uniprot.org/uniprot/P0DPD9#function" }, { "database": "UniProtKB", "id": "P0DPE2", "url": "https://www.uniprot.org/uniprot/P0DPE2#function" } ] }, { "annotation": "ECE-2 and ECE-1 levels are significantly reduced in post-mortem brain from dementia with Lewy body patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, { "database": "PubMed", "id": "28171705", "url": "https://glygen.org/publication/PubMed/28171705" } ] }, { "annotation": "Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, { "database": "PubMed", "id": "32102983", "url": "https://glygen.org/publication/PubMed/32102983" } ] }, { "annotation": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, { "database": "PubMed", "id": "16567585", "url": "https://glygen.org/publication/PubMed/16567585" } ] }, { "annotation": "The most significantly downregulated gene in this data set was the endothelin converting enzyme 2 (ECE2), implicated in amyloid beta clearance.", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, { "database": "PubMed", "id": "17188679", "url": "https://glygen.org/publication/PubMed/17188679" } ] }, { "annotation": "This is the first report of ECE-2 being an autoantigen in humans. We have identified ECE-2 as a specific autoantigen in APS1 with a restricted neuroendocrine distribution.", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" }, { "database": "PubMed", "id": "28557628", "url": "https://glygen.org/publication/PubMed/28557628" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs767058073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767058073" }, { "id": "rs767058073", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767058073" }, { "id": "rs767058073", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767058073#frequency_tab" }, { "id": "rs767058073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767058073" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "K", "sequence_mut": "N", 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"strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000284917", "url": "https://www.ensembl.org/id/ENSG00000284917" } ] } } ], "crossref": [ { "id": "ENSG00000284917", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284917", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P0DPD8", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0DPD8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd02440", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02440", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd08662", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08662", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "EEF1AKMT4-ECE2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=EEF1AKMT4-ECE2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "110599583", "url": 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"IPR029063", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029063", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041698", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041698", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042089", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042089", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:110599583", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:110599583", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "hsa:9718", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9718", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610145", "url": "http://www.omim.org/entry/610145", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0DPD8", "url": "https://www.nextprot.org/entry/NX_P0DPD8", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P0DPD8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPD8", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RYCELEY", "url": "https://omabrowser.org/oma/group/RYCELEY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "202716at2759", "url": "http://www.orthodb.org/?query=202716at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11733", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11733", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11733:SF127", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11733:SF127", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01431", "url": "http://pfam.xfam.org/family/PF01431", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05649", "url": "http://pfam.xfam.org/family/PF05649", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13649", "url": "http://pfam.xfam.org/family/PF13649", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DPD8", "url": "http://purl.obolibrary.org/obo/PR_P0DPD8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P0DPD8", "url": "https://www.uniprot.org/uniprot/P0DPD8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPD8-1", "url": "https://www.uniprot.org/uniprot/P0DPD8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGCGNSALSYELFLGGFPNVTSVDYSSVVVAAMQARHAHVPQLRWETMDVRKLDFPSASFDVVLEKGTLDALLAGERDPWTVSSEGVHTVDQVLSEVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 883, "header": "sp|P0DPD8-1|EFCE2_HUMAN Isoform 1 of EEF1AKMT4-ECE2 readthrough transcript protein OS=Homo sapiens OX=9606 GN=EEF1AKMT4-ECE2 PE=1 SV=1 CANONICAL=P0DPD8-1" }, "isoforms": [ { "isoform_ac": "P0DPD8-1", "url": "", "sequence": { "sequence": "MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPEDRILVLGCGNSALSYELFLGGFPNVTSVDYSSVVVAAMQARHAHVPQLRWETMDVRKLDFPSASFDVVLEKGTLDALLAGERDPWTVSSEGVHTVDQVLSEVGFQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW", "length": 883, "header": "sp|P0DPD8-1|EFCE2_HUMAN Isoform 1 of EEF1AKMT4-ECE2 readthrough transcript protein OS=Homo sapiens OX=9606 GN=EEF1AKMT4-ECE2 PE=1 SV=1 CANONICAL=P0DPD8-1" }, "locus": { "chromosome": "3", "start_pos": 184292235, "end_pos": 184249695, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402825.7", "url": "https://www.ensembl.org/id/ENST00000402825.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384223.3", "url": "https://www.ensembl.org/id/ENSP00000384223.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 283, "start_aa": "Asn", "end_pos": 283, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn283", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 324, "start_aa": "Asn", "end_pos": 324, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn324", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 384, "start_aa": "Asn", "end_pos": 384, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn384", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 429, "start_aa": "Asn", "end_pos": 429, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn429", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 496, "start_aa": "Asn", "end_pos": 496, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn496", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 573, "start_aa": "Ser", "end_pos": 573, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser573", "evidence": [ { "id": "P0DPD8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPD8" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 652, "start_aa": "Asn", "end_pos": 652, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn652", "evidence": [ { "id": "P0DPD8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPD8#ptm_processing" } ] }, { "glytoucan_ac": "", 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Biophys. Acta", "date": "2001", "authors": "Lorenzo MN, Khan RY, Wang Y, Tai SC, Chan GC, Cheung AH, Marsden PA", "evidence": [ { "database": "UniProtKB", "id": "P0DPD8", "url": "https://www.uniprot.org/uniprot/P0DPD8" } ], "reference": [ { "type": "PubMed", "id": "11718899", "url": "https://glygen.org/publication/PubMed/11718899" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "P0DPD8", "url": "https://www.uniprot.org/uniprot/P0DPD8" }, { "database": "iPTMnet", "id": "P0DPD8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P0DPD8" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2006", "authors": "Iemitsu M, Maeda S, Otsuki T, Sugawara J, Tanabe T, Jesmin S, Kuno S, Ajisaka R, Miyauchi T, Matsuda M", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" } ], "reference": [ { "type": "PubMed", "id": "16567585", "url": "https://glygen.org/publication/PubMed/16567585" } ] }, { "title": "Alterations in immunological and neurological gene expression patterns in Alzheimer's disease tissues.", "journal": "Experimental cell research", "date": "2007", "authors": "Weeraratna AT, Kalehua A, Deleon I, Bertak D, Maher G, Wade MS, Lustig A, Becker KG, Wood W 3rd, Walker DG, Beach TG, Taub DD", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" } ], "reference": [ { "type": "PubMed", "id": "17188679", "url": "https://glygen.org/publication/PubMed/17188679" } ] }, { "title": "Endothelin-converting enzymes degrade alpha-synuclein and are reduced in dementia with Lewy bodies.", "journal": "Journal of neurochemistry", "date": "2017", "authors": "Miners JS, Love S", "evidence": [ { "database": "RefSeq", "id": "NP_001032401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032401" } ], "reference": [ { "type": "PubMed", "id": "28171705", "url": "https://glygen.org/publication/PubMed/28171705" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P0DPD8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPD8" } ], "reference": [ { "type": 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"sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 24 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", 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