{ "uniprot_canonical_ac": "P05783-1", "uniprot_ac": "P05783", "uniprot_id": "K1C18_HUMAN", "mass": { "chemical_mass": 48058.0, "monoisotopic_mass": 48058.0 }, "refseq": { "ac": "NP_000215", "name": "keratin, type I cytoskeletal 18", "summary": "KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, "gene_names": [ { "name": "KRT18", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05783", "id": "P05783" }, { "name": "CK-18; CYK18; K18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215", "id": "NP_000215" }, { "name": "CYK18", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05783", "id": "P05783" }, { "name": "KRT18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215", "id": "NP_000215" }, { "name": "PIG46", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05783", "id": "P05783" } ], "protein_names": [ { "name": "Keratin, type I cytoskeletal 18", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05783" }, { "name": "CK-18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05783" }, { "name": "Cell proliferation-inducing gene 46 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05783" }, { "name": "Cytokeratin-18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05783" }, { "name": "K18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05783" }, { "name": "Keratin-18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05783" }, { "name": "cytokeratin 18; cell proliferation-inducing gene 46 protein; keratin 18, type I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215", "id": "NP_000215" }, { "name": "keratin, type I cytoskeletal 18", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215", "id": "NP_000215" } ], "function": [ { "annotation": "A new detection system for serum fragmented cytokeratin 18 as a biomarker reflecting histologic activities of human nonalcoholic steatohepatitis.", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, { "database": "PubMed", "id": "35485207", "url": "https://glygen.org/publication/PubMed/35485207" } ] }, { "annotation": "Circulating caspase-cleaved cytokeratin 18 correlates with tumour burden and response to therapy in patients with colorectal cancer liver metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, { "database": "PubMed", "id": "36375525", "url": "https://glygen.org/publication/PubMed/36375525" } ] }, { "annotation": "Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783#function" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "15529338", "url": "https://glygen.org/publication/PubMed/15529338" }, { "database": "PubMed", "id": "16424149", "url": "https://glygen.org/publication/PubMed/16424149" }, { "database": "PubMed", "id": "9524113", "url": "https://glygen.org/publication/PubMed/9524113" }, { "database": "PubMed", "id": "8522591", "url": "https://glygen.org/publication/PubMed/8522591" }, { "database": "PubMed", "id": "9298992", "url": "https://glygen.org/publication/PubMed/9298992" }, { "database": "PubMed", "id": "17213200", "url": "https://glygen.org/publication/PubMed/17213200" } ] }, { "annotation": "KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" } ] }, { "annotation": "LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating N6-methyladenosine modification of KRT18 mRNA in gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, { "database": "PubMed", "id": "35136989", "url": "https://glygen.org/publication/PubMed/35136989" } ] }, { "annotation": "Markers of cell death predict therapy response in patients with cirrhosis and hepatorenal syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, { "database": "PubMed", "id": "36441143", "url": "https://glygen.org/publication/PubMed/36441143" } ] }, { "annotation": "Serum Level of Cytokeratin 18 (M65) as a Prognostic Marker of High Cardiovascular Disease Risk in Individuals with Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" }, { "database": "PubMed", "id": "37509164", "url": "https://glygen.org/publication/PubMed/37509164" } ] } ], "disease": [ { "disease_id": "MONDO:0007329", "recommended_name": { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cirrhosis, familial", "description": "Cirrhosis in which no causative agent can be identified." }, "synonyms": [ { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cirrhosis, familial", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cryptogenic cirrhosis", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "hereditary cirrhosis of liver", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "Indian childhood cirrhosis", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "Sen syndrome", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cirrhosis, Noncryptogenic, susceptibility to", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cirrhosis, cryptogenic", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "cirrhosis, familial, with pulmonary hypertension", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "copper toxicosis, idiopathic", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "copper-overload cirrhosis", "description": "" }, { "id": "MONDO:0007329", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007329", "name": "endemic Tyrolean infantile cirrhosis", "description": "" }, { "id": "MIM:215600", "resource": "MIM", "url": "https://www.omim.org/entry/215600", "name": "Cirrhosis", "description": "Cirrhosis" } ], "evidence": [ { "id": "215600", "database": "MIM", "url": "https://www.omim.org/entry/215600" } ] } ], "snv": [ { "evidence": [ { "id": "rs1447813465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447813465" }, { "id": "rs1447813465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447813465" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "52949217", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753311520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753311520" }, { "id": "rs753311520", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753311520" }, { "id": "rs753311520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753311520" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "12", "chr_pos": "52949216", "ref_nt": "C", "alt_nt": "null", 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302, "end_pos": 302, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "52951813", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398440164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398440164" }, { "id": "rs1398440164", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398440164#frequency_tab" }, { "id": "rs1398440164", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398440164" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "12", "chr_pos": "52949264", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", 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"", "site_lbl": "N423", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1565739734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565739734" }, { "id": "rs1565739734", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1565739734" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 425, "end_pos": 425, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDA).", "chr_id": "12", "chr_pos": "52952822", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770250195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770250195" }, { "id": "rs770250195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770250195" }, { "id": "rs770250195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770250195" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "12", "chr_pos": "52949297", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763522746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763522746" }, { "id": "rs763522746", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763522746" }, { "id": "rs763522746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763522746" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 44, "end_pos": 44, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "12", "chr_pos": "52949303", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447084165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447084165" }, { "id": "rs1447084165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447084165" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 44, "end_pos": 44, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "12", "chr_pos": "52949304", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452035555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452035555" }, { "id": "rs1452035555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1452035555#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 47, "end_pos": 47, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "52949313", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1241148678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1241148678" }, { "id": "rs1241148678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1241148678" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "12", "chr_pos": "52949183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs76301931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76301931" }, { "id": "rs76301931", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76301931" }, { "id": "rs76301931", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76301931" }, { "id": "rs76301931", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs76301931#frequency_tab" }, { "id": "rs76301931", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76301931" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "12", "chr_pos": "52949184", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs775547844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775547844" }, { "id": "rs775547844", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775547844" }, { "id": "rs775547844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775547844" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "12", "chr_pos": "52949193", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S7", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 10, "end_pos": 10, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-2 and A-7.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-18 and A-23. Abolishes phosphorylation; when associated with A-18; A-34; A-47; A-49; A-51 and A-53.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 18, "end_pos": 18, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-15 and A-23. Abolishes phosphorylation; when associated with A-15; A-34; A-47; A-49; A-51 and A-53.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 238, "end_pos": 238, "sequence_org": "D", "sequence_mut": "E", "comment": "Prevents cleavage by caspase-6 during apoptosis. Induces aggregates of keratin filaments in an altered organization.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "9298992", "url": "https://glygen.org/publication/PubMed/9298992" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-15 and A-18.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 2, "end_pos": 2, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-7 and A-10.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-31 and A-34, or with A-31; A-44 and A-51. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-31 and A-49.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "7538124", "url": "https://glygen.org/publication/PubMed/7538124" } ] }, { "start_pos": 31, "end_pos": 31, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-30 and A-34, or with A-30; A-44 and A-51. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-30 and A-49.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "7538124", "url": "https://glygen.org/publication/PubMed/7538124" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-30 and A-31. Abolishes phosphorylation; when associated with A-15; A-18; A-47; A-49; A-51 and A-53. Abolishes binding to YWHAE and YWHAZ; and when associated with A-53.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "9524113", "url": "https://glygen.org/publication/PubMed/9524113" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "S", "sequence_mut": "D", "comment": "Abolishes binding to YWHAE and YWHAZ.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "9524113", "url": "https://glygen.org/publication/PubMed/9524113" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "S", "sequence_mut": "E", "comment": "Abolishes binding to YWHAE and YWHAZ.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "9524113", "url": "https://glygen.org/publication/PubMed/9524113" } ] }, { "start_pos": 42, "end_pos": 42, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-44.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 44, "end_pos": 44, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-42, or with A-30; A-31 and A-51.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 47, "end_pos": 47, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-49. Abolishes phosphorylation; when associated with A-49; A-51 and A-53, or with A-15; A-18; A-34; A-49; A-51 and A-53.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 49, "end_pos": 49, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-47. Abolishes phosphorylation; when associated with A-47; A-51 and A-53, or with A-15; A-18; A-34; A-47; A-51 and A-53. Abolishes glycosylation but does not affect binding to YWHAE and YWHAZ; when associated with A-30 and A-31.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "7538124", "url": "https://glygen.org/publication/PubMed/7538124" } ] }, { "start_pos": 51, "end_pos": 51, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-30; A-31 and A-47. Abolishes phosphorylation; when associated with A-47; A-49 and A-53, or with A-15; A-18; A-34; A-47; A-49 and A-53.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation; when associated with A-47; A-49 and A-51, or with A-15; A-18; A-34; A-47; A-49 and A-51. Abolishes binding to YWHAE and YWHAZ; when associated with A-34. No effect on caspase cleavage during apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" }, { "database": "PubMed", "id": "9524113", "url": "https://glygen.org/publication/PubMed/9524113" }, { "database": "PubMed", "id": "9298992", "url": "https://glygen.org/publication/PubMed/9298992" } ] }, { "start_pos": 7, "end_pos": 7, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on phosphorylation; when associated with A-2 and A-10.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "7523419", "url": "https://glygen.org/publication/PubMed/7523419" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "R", "sequence_mut": "C", "comment": "In transgenic mice, induces marked disruption of liver and pancreas keratin filament network. Increases phosphorylation and glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "8522591", "url": "https://glygen.org/publication/PubMed/8522591" } ] }, { "start_pos": 90, "end_pos": 90, "sequence_org": "R", "sequence_mut": "H", "comment": "In transgenic mice, induces marked disruption of liver and pancreas keratin filament network. Increases phosphorylation and glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" }, { "database": "PubMed", "id": "8522591", "url": "https://glygen.org/publication/PubMed/8522591" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05783", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05783" } ], "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": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "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 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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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05783", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05783" } ], "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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05783", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05783" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" } ], "common_name": "Human" } ], "gene": [ { "name": "KRT18", "url": "https://www.uniprot.org/uniprot/P05783", "locus": { "chromosome": "12", "start_pos": 52952906, "end_pos": 52948871, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000111057", "url": "https://www.ensembl.org/id/ENSG00000111057" } ] } } ], "crossref": [ { "id": "ENSG00000111057", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000111057", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "KRT18", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT18", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3875", "url": "https://www.ncbi.nlm.nih.gov/gene/3875", "database": "GeneID", "categories": 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"categories": [ "Protein Classification" ] }, { "id": "hsa:3875", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3875", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "148070", "url": "http://www.omim.org/entry/148070", "database": "MIM", "categories": [ "Other" ] }, { "id": "215600", "url": "http://www.omim.org/entry/215600", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P05783", "url": "https://www.nextprot.org/entry/NX_P05783", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P05783", "url": "https://oglcnac.org/atlas/detail/P05783", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P05783", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05783", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YRASSIH", "url": "https://omabrowser.org/oma/group/YRASSIH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4640531at2759", "url": "http://www.orthodb.org/?query=4640531at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23239", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23239", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23239:SF349", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23239:SF349", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05783", "url": "https://pharos.nih.gov/targets/P05783", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05783", "url": "http://purl.obolibrary.org/obo/PR_P05783", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6805567", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6805567", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P05783", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "F8VZY9", "url": "https://www.uniprot.org/uniprot/F8VZY9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VZY9-1", "url": "https://www.uniprot.org/uniprot/F8VZY9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05783-1", "url": "https://www.uniprot.org/uniprot/P05783-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAPKSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSNSMQTIQKTTTRRIVDGKVVSETNDTKVLRH", "length": 430, "header": "sp|P05783-1|K1C18_HUMAN Isoform 1 of Keratin, type I cytoskeletal 18 OS=Homo sapiens OX=9606 GN=KRT18 PE=1 SV=2 CANONICAL=P05783-1" }, "isoforms": [ { "isoform_ac": "F8VZY9-1", "url": "", "sequence": { "sequence": "MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAPKSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFK", "length": 391, "header": "tr|F8VZY9-1|K1C18_HUMAN Computationally mapped isoform of Keratin, type I cytoskeletal 18 OS=Homo sapiens OX=9606 GN=KRT18 PE=1 SV=1 CANONICAL=P05783-1" }, "locus": { "chromosome": "12", "start_pos": 52952343, "end_pos": 52949174, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550600.5", "url": "https://www.ensembl.org/id/ENST00000550600.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447278.1", "url": "https://www.ensembl.org/id/ENSP00000447278.1" } ] } }, { "isoform_ac": "P05783-1", "url": "", "sequence": { "sequence": "MSFTTRSTFSTNYRSLGSVQAPSYGARPVSSAASVYAGAGGSGSRISVSRSTSFRGGMGSGGLATGIAGGLAGMGGIQNEKETMQSLNDRLASYLDRVRSLETENRRLESKIREHLEKKGPQVRDWSHYFKIIEDLRAQIFANTVDNARIVLQIDNARLAADDFRVKYETELAMRQSVENDIHGLRKVIDDTNITRLQLETEIEALKEELLFMKKNHEEEVKGLQAQIASSGLTVEVDAPKSQDLAKIMADIRAQYDELARKNREELDKYWSQQIEESTTVVTTQSAEVGAAETTLTELRRTVQSLEIDLDSMRNLKASLENSLREVEARYALQMEQLNGILLHLESELAQTRAEGQRQAQEYEALLNIKVKLEAEIATYRRLLEDGEDFNLGDALDSSNSMQTIQKTTTRRIVDGKVVSETNDTKVLRH", "length": 430, "header": "sp|P05783-1|K1C18_HUMAN Isoform 1 of Keratin, type I cytoskeletal 18 OS=Homo sapiens OX=9606 GN=KRT18 PE=1 SV=2 CANONICAL=P05783-1" }, "locus": { "chromosome": "12", "start_pos": 52952839, "end_pos": 52949174, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000388835.4", "url": "https://www.ensembl.org/id/ENST00000388835.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000373487.3", "url": "https://www.ensembl.org/id/ENSP00000373487.3" } ] } } ], "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": 10, "start_aa": "Ser", "end_pos": 10, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser10", "evidence": [ { "id": "P05783", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05783" }, { "id": "27059955", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27059955" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "7538124", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7538124" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "20729549", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20729549" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "17084817", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17084817" }, { "id": "24126823", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24126823" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "9079710", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9079710" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "23576270", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23576270" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "P05783", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05783" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 15, "start_aa": "Ser", "end_pos": 15, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser15", "evidence": [ { "id": "P05783", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05783" }, { "id": "27059955", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27059955" }, { "id": "36580660", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36580660" }, { "id": "7538124", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7538124" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "20729549", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20729549" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "17084817", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17084817" }, { "id": "24126823", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24126823" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "9079710", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9079710" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "23576270", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23576270" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "22967762", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22967762" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "20068230", 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"https://glygen.org/publication/PubMed/35132862" } ] }, { "title": "LncRNA LINC02253 activates KRT18/MAPK/ERK pathway by mediating N6-methyladenosine modification of KRT18 mRNA in gastric cancer.", "journal": "Carcinogenesis", "date": "2022", "authors": "Gao Z, Long Y, Wu Y, Pu Y, Xue F", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" } ], "reference": [ { "type": "PubMed", "id": "35136989", "url": "https://glygen.org/publication/PubMed/35136989" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05783", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05783" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05783", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05783" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "A new detection system for serum fragmented cytokeratin 18 as a biomarker reflecting histologic activities of human nonalcoholic steatohepatitis.", "journal": "Hepatology communications", "date": "2022", "authors": "Eguchi A, Iwasa M, Yamada M, Tamai Y, Shigefuku R, Hasegawa H, Hirokawa Y, Hayashi A, Okuno K, Matsushita Y, Nakatsuka T, Enooku K, Sakaguchi K, Kobayashi Y, Yamaguchi T, Watanabe M, Takei Y, Nakagawa H", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" } ], "reference": [ { "type": "PubMed", "id": "35485207", "url": "https://glygen.org/publication/PubMed/35485207" } ] }, { "title": "Circulating caspase-cleaved cytokeratin 18 correlates with tumour burden and response to therapy in patients with colorectal cancer liver metastasis.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2022-11-11", "authors": "Singh Bhangu Jagdeep, Macher-Beer Andrea, Schimek Vanessa, Garmroudi Bastian, Tamandl Dietmar, Unger Lukas W, Bachleitner-Hofmann Thomas, Oehler Rudolf", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" } ], "reference": [ { "type": "PubMed", "id": "36375525", "url": "https://glygen.org/publication/PubMed/36375525" } ] }, { "title": "Markers of cell death predict therapy response in patients with cirrhosis and hepatorenal syndrome.", "journal": "United European gastroenterology journal", "date": "2022-11-28", "authors": "Heinrich Sophia, Austgen Thomas, Castven Darko, Hess Moritz, Labenz Christian, Kirstein Martha, Zimpel Carolin, Stockhoff Lena, Maasoumy Benjamin, Heinrich Bernd, Wedemeyer Hans Heinrich, Galle Peter Robert, Binder Harald, Nguyen-Tat Marc, Marquardt Jens Uwe", "evidence": [ { "database": "RefSeq", "id": "NP_000215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000215" } ], "reference": [ { "type": "PubMed", "id": "36441143", "url": "https://glygen.org/publication/PubMed/36441143" } ] }, { "title": "Multi-comparative Thermal Proteome Profiling Uncovers New O-GlcNAc Proteins in a System-wide Method.", "journal": "Analytical chemistry", "date": "2022-12-29", "authors": "Wang Guoli, Li Yang, Wang Ting, Wang Jun, Yao Jun, Yan Guoquan, Zhang Ying, Lu Haojie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05783", "url": 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"1997", "authors": "Steinert PM, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "8999895", "url": "https://glygen.org/publication/PubMed/8999895" } ] }, { "title": "Mutation of human keratin 18 in association with cryptogenic cirrhosis.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Ku NO, Wright TL, Terrault NA, Gish R, Omary MB", "evidence": [ { "database": "UniProtKB", "id": "P05783", "url": "https://www.uniprot.org/uniprot/P05783" } ], "reference": [ { "type": "PubMed", "id": "9011570", "url": "https://glygen.org/publication/PubMed/9011570" } ] }, { "title": "Mitotic arrest with nocodazole induces selective changes in the level of O-linked N-acetylglucosamine and accumulation of incompletely processed N-glycans on proteins from HT29 cells.", "journal": "The Journal of biological chemistry", "date": "1997", 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