{ "uniprot_canonical_ac": "O60568-1", "uniprot_ac": "O60568", "uniprot_id": "PLOD3_HUMAN", "mass": { "chemical_mass": 84785.0, "monoisotopic_mass": 84785.0 }, "refseq": { "ac": "NP_001075", "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor", "summary": "The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, "gene_names": [ { "name": "PLOD3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60568", "id": "O60568" }, { "name": "LH3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075", "id": "NP_001075" }, { "name": "PLOD3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075", "id": "NP_001075" } ], "protein_names": [ { "name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60568" }, { "name": "Galactosylhydroxylysine-glucosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60568" }, { "name": "LH3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60568" }, { "name": "Lysyl hydroxylase 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60568" }, { "name": "Procollagen galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60568" }, { "name": "Procollagen glucosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60568" }, { "name": "lysyl hydroxylase 3; lysine hydroxylase 3; lysyl hydroxlase 3; multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075", "id": "NP_001075" }, { "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075", "id": "NP_001075" } ], "function": [ { "annotation": "A Human Pan-Cancer System Analysis of Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 3 (PLOD3). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, { "database": "PubMed", "id": "34576068", "url": "https://glygen.org/publication/PubMed/34576068" } ] }, { "annotation": "Integrated Profiling Identifies PLOD3 as a Potential Prognostic and Immunotherapy Relevant Biomarker in Colorectal Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, { "database": "PubMed", "id": "34646265", "url": "https://glygen.org/publication/PubMed/34646265" } ] }, { "annotation": "Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen alpha1alpha1alpha2(IV).", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, { "database": "PubMed", "id": "36403858", "url": "https://glygen.org/publication/PubMed/36403858" } ] }, { "annotation": "Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen (PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:9582318, PubMed:9724729, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:10934207, PubMed:11896059, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:18834968) (Probable). Essential for normal formation of basement membranes (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568#function" }, { "database": "PubMed", "id": "18834968", "url": "https://glygen.org/publication/PubMed/18834968" }, { "database": "UniProtKB", "id": "Q9R0E1", "url": "https://www.uniprot.org/uniprot/Q9R0E1#function" }, { "database": "PubMed", "id": "25419660", "url": "https://glygen.org/publication/PubMed/25419660" }, { "database": "PubMed", "id": "11956192", "url": "https://glygen.org/publication/PubMed/11956192" }, { "database": "PubMed", "id": "9724729", "url": "https://glygen.org/publication/PubMed/9724729" }, { "database": "PubMed", "id": "9582318", "url": "https://glygen.org/publication/PubMed/9582318" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" }, { "database": "PubMed", "id": "18298658", "url": "https://glygen.org/publication/PubMed/18298658" }, { "database": "PubMed", "id": "11896059", "url": "https://glygen.org/publication/PubMed/11896059" }, { "database": "PubMed", "id": "10934207", "url": "https://glygen.org/publication/PubMed/10934207" }, { "database": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "annotation": "PLOD3 facilitated T cell activation in the colorectal tumor microenvironment and liver metastasis by the TNF-alpha/ NF-kappaB pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, { "database": "PubMed", "id": "38184566", "url": "https://glygen.org/publication/PubMed/38184566" } ] }, { "annotation": "PLOD3 regulates the expression of YAP1 to affect the progression of non-small cell lung cancer via the PKCdelta/CDK1/LIMD1 signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" }, { "database": "PubMed", "id": "35039611", "url": "https://glygen.org/publication/PubMed/35039611" } ] }, { "annotation": "The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" } ] } ], "disease": [ { "disease_id": "MONDO:0012892", "recommended_name": { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "bone fragility with contractures, arterial rupture, and deafness", "description": "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." }, "synonyms": [ { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "bone fragility with contractures, arterial rupture, and deafness", "description": "" }, { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "bone fragility-contractures-arterial rupture-deafness syndrome", "description": "" }, { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "connective tissue disorder due to LH3 deficiency", "description": "" }, { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "connective tissue disorder due to lysyl hydroxylase-3 deficiency", "description": "" }, { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "LH3 deficiency", "description": "" }, { "id": "MONDO:0012892", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892", "name": "lysyl Hydroxylase 3 deficiency", "description": "" }, { "id": "MIM:612394", "resource": "MIM", "url": "https://www.omim.org/entry/612394", "name": "Bone fragility with contractures, arterial rupture, and deafness", "description": "Bone fragility with contractures, arterial rupture, and deafness" } ], "evidence": [ { "id": "0012892", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012892" }, { "id": "612394", "database": "MIM", "url": "https://www.omim.org/entry/612394" }, { "id": "8985", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/8985#disease" } ] } ], "snv": [ { "evidence": [ { "id": "rs769989629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769989629" }, { "id": "rs769989629", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769989629" }, { "id": "rs769989629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769989629" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "7", "chr_pos": "101216270", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121434414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434414" }, { "id": "rs121434414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434414" }, { "id": "rs121434414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121434414#frequency_tab" }, { "id": "rs121434414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121434414" }, { "id": "18834968", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18834968" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 223, "end_pos": 223, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "7", "chr_pos": "101215100", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60568", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60568" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 257, "end_pos": 257, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "7", "chr_pos": "101213115", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P257", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1404808452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404808452" }, { "id": "rs1404808452", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404808452#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 25, "end_pos": 25, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "7", "chr_pos": "101217201", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs145886391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145886391" }, { "id": "rs145886391", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145886391" }, { "id": "rs145886391", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145886391#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 63, "end_pos": 63, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "7", "chr_pos": "101216707", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N63", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1249409241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249409241" }, { "id": "rs1249409241", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249409241" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 63, "end_pos": 63, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->SYT).", "chr_id": "7", "chr_pos": "101216708", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N63", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771042939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771042939" }, { "id": "rs771042939", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771042939" }, { "id": "rs771042939", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771042939#frequency_tab" }, { "id": "rs771042939", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771042939" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 669, "end_pos": 669, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "7", "chr_pos": "101206835", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D669", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 114, "end_pos": 114, "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreased lysyl hydroxylase and glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] }, { "start_pos": 144, "end_pos": 144, "sequence_org": "C", "sequence_mut": "I", "comment": "Strongly reduced glucosyltransferase activity. Strongly reduced galactosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "11896059", "url": "https://glygen.org/publication/PubMed/11896059" }, { "database": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "start_pos": 187, "end_pos": 189, "sequence_org": "DDD", "sequence_mut": "ADA", "comment": "Nearly abolishes glucosyltransferase activity. Nearly abolishes galactosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "11896059", "url": "https://glygen.org/publication/PubMed/11896059" }, { "database": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "start_pos": 187, "end_pos": 191, "sequence_org": "DDDDD", "sequence_mut": "ADAAA", "comment": "Loss of glucosyltransferase activity. Loss of galactosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "18298658", "url": "https://glygen.org/publication/PubMed/18298658" }, { "database": "PubMed", "id": "11896059", "url": "https://glygen.org/publication/PubMed/11896059" }, { "database": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "start_pos": 208, "end_pos": 208, "sequence_org": "L", "sequence_mut": "I", "comment": "Reduced glucosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "11896059", "url": "https://glygen.org/publication/PubMed/11896059" } ] }, { "start_pos": 669, "end_pos": 669, "sequence_org": "D", "sequence_mut": "A", "comment": "Strongly decreased lysyl hydroxylase activity. No effect on glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "18298658", "url": "https://glygen.org/publication/PubMed/18298658" }, { "database": "PubMed", "id": "10934207", "url": "https://glygen.org/publication/PubMed/10934207" } ] }, { "start_pos": 672, "end_pos": 672, "sequence_org": "T", "sequence_mut": "N", "comment": "Loss of dimerization. Loss of lysyl hydroxylase activity and decreased glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] }, { "start_pos": 714, "end_pos": 714, "sequence_org": "R", "sequence_mut": "N", "comment": "Loss of dimerization. Loss of lysyl hydroxylase activity and no effect on glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] }, { "start_pos": 715, "end_pos": 715, "sequence_org": "L", "sequence_mut": "D", "comment": "No effect on dimerization, lysyl hydroxylase and glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] }, { "start_pos": 715, "end_pos": 715, "sequence_org": "L", "sequence_mut": "R", "comment": "Loss of lysyl hydroxylase activity and decreased glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] }, { "start_pos": 75, "end_pos": 75, "sequence_org": "W", "sequence_mut": "A", "comment": "Decreased lysyl hydroxylase activity and loss of glycosyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "PubMed", "id": "30089812", "url": "https://glygen.org/publication/PubMed/30089812" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106397", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106397" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106397", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106397" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106397", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106397" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106397", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106397" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106397", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106397" } ] }, { 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"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", 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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": "O60568", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60568" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60568" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60568", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60568" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"length": 738, "header": "sp|O60568-1|PLOD3_HUMAN Isoform 1 of Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "isoforms": [ { "isoform_ac": "C9JIX5-1", "url": "", "sequence": { "sequence": "MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEW", "length": 75, "header": "tr|C9JIX5-1|PLOD3_HUMAN Computationally mapped isoform of Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=8 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101217274, "end_pos": 101216523, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456079.1", "url": "https://www.ensembl.org/id/ENST00000456079.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416070.1", "url": "https://www.ensembl.org/id/ENSP00000416070.1" } ] } }, { "isoform_ac": "C9JU11-1", "url": "", "sequence": { "sequence": "MGHFKDVVTVFLQEILFSFGPCEDAVITKAAPGASPGRRGEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTGKRFLNSG", "length": 171, "header": "tr|C9JU11-1|C9JU11_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101217969, "end_pos": 101216164, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414785.5", "url": "https://www.ensembl.org/id/ENST00000414785.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407551.1", "url": "https://www.ensembl.org/id/ENSP00000407551.1" } ] } }, { "isoform_ac": "H7C0B8-1", "url": "", "sequence": { "sequence": "XFSLDADAVLTNLQTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRV", "length": 66, "header": "tr|H7C0B8-1|H7C0B8_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101211915, "end_pos": 101211589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440925.1", "url": "https://www.ensembl.org/id/ENST00000440925.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394045.1", "url": "https://www.ensembl.org/id/ENSP00000394045.1" } ] } }, { "isoform_ac": "H7C2A8-1", "url": "", "sequence": { "sequence": "TLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEDSSVLPPPSTKSCASGSTRMMTTTSCSTHGSTWTQD", "length": 125, "header": "tr|H7C2A8-1|PLOD3_HUMAN Computationally mapped isoform of Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101216546, "end_pos": 101215913, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424135.5", "url": "https://www.ensembl.org/id/ENST00000424135.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404799.1", "url": "https://www.ensembl.org/id/ENSP00000404799.1" } ] } }, { "isoform_ac": "H7C2S8-1", "url": "", "sequence": { "sequence": "XNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRDVFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVEQPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHEGLPTTWGTRYIMVSFVDP", "length": 264, "header": "tr|H7C2S8-1|H7C2S8_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101211672, "end_pos": 101206283, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454310.5", "url": "https://www.ensembl.org/id/ENST00000454310.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407555.1", "url": "https://www.ensembl.org/id/ENSP00000407555.1" } ] } }, { "isoform_ac": "H7C2V1-1", "url": "", "sequence": { "sequence": "XFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRIRNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNLQTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQR", "length": 270, "header": "tr|H7C2V1-1|H7C2V1_HUMAN Computationally mapped isoform of Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101216020, "end_pos": 101210595, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421736.1", "url": "https://www.ensembl.org/id/ENST00000421736.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000407908.1", "url": "https://www.ensembl.org/id/ENSP00000407908.1" } ] } }, { "isoform_ac": "O60568-1", "url": "", "sequence": { "sequence": "MTSSGPGPRFLLLLPLLLPPAASASDRPRGRDPVNPEKLLVITVATAETEGYLRFLRSAEFFNYTVRTLGLGEEWRGGDVARTVGGGQKVRWLKKEMEKYADREDMIIMFVDSYDVILAGSPTELLKKFVQSGSRLLFSAESFCWPEWGLAEQYPEVGTGKRFLNSGGFIGFATTIHQIVRQWKYKDDDDDQLFYTRLYLDPGLREKLSLNLDHKSRIFQNLNGALDEVVLKFDRNRVRIRNVAYDTLPIVVHGNGPTKLQLNYLGNYVPNGWTPEGGCGFCNQDRRTLPGGQPPPRVFLAVFVEQPTPFLPRFLQRLLLLDYPPDRVTLFLHNNEVFHEPHIADSWPQLQDHFSAVKLVGPEEALSPGEARDMAMDLCRQDPECEFYFSLDADAVLTNLQTLRILIEENRKVIAPMLSRHGKLWSNFWGALSPDEYYARSEDYVELVQRKRVGVWNVPYISQAYVIRGDTLRMELPQRDVFSGSDTDPDMAFCKSFRDKGIFLHLSNQHEFGRLLATSRYDTEHLHPDLWQIFDNPVDWKEQYIHENYSRALEGEGIVEQPCPDVYWFPLLSEQMCDELVAEMEHYGQWSGGRHEDSRLAGGYENVPTVDIHMKQVGYEDQWLQLLRTYVGPMTESLFPGYHTKARAVMNFVVRYRPDEQPSLRPHHDSSTFTLNVALNHKGLDYEGGGCRFLRYDCVISSPRKGWALLHPGRLTHYHEGLPTTWGTRYIMVSFVDP", "length": 738, "header": "sp|O60568-1|PLOD3_HUMAN Isoform 1 of Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 OS=Homo sapiens OX=9606 GN=PLOD3 PE=1 SV=1 CANONICAL=O60568-1" }, "locus": { "chromosome": "7", "start_pos": 101217274, "end_pos": 101206284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000223127.8", "url": "https://www.ensembl.org/id/ENST00000223127.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000223127.3", "url": "https://www.ensembl.org/id/ENSP00000223127.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 25, "start_aa": "Ser", "end_pos": 25, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser25", "evidence": [ { "id": "O60568", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O60568", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O60568", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G94854LT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "O60568", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "O60568", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60568#ptm_processing" }, { "id": "6FXY", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/6FXY" }, { "id": "30089812", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30089812" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "site_category": "reported", "site_seq": "Y", "relation": "attached", "comment": "", "start_pos": 604, "start_aa": "Tyr", "end_pos": 604, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr604", "evidence": [ { "id": "GLY_000268", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000268" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14260UH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25079LO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "O60568", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 63, "start_aa": "Asn", "end_pos": 63, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn63", "evidence": [ { "id": "1635", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1635" }, { 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"O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "reference": [ { "type": "PubMed", "id": "30237576", "url": "https://glygen.org/publication/PubMed/30237576" } ] }, { "title": "Defective co-translational formation of disulphide bonds in protein disulphide-isomerase-deficient microsomes.", "journal": "Nature", "date": "1988", "authors": "Bulleid NJ, Freedman RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3173483", "url": "https://glygen.org/publication/PubMed/3173483" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60568", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60568" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60568", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60568" }, { "database": "O-GlcNAc Atlas", "id": "O60568", "url": "https://oglcnac.org/atlas/detail/O60568" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. 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a journal of technical methods and pathology", "date": "2022", "authors": "Li WH, Huang K, Wen FB, Cui GH, Guo HZ, Zhao S", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" } ], "reference": [ { "type": "PubMed", "id": "35039611", "url": "https://glygen.org/publication/PubMed/35039611" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60568", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60568" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "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": "O60568", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60568" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Lysyl hydroxylase 3 mediated post-translational modifications are required for proper biosynthesis of collagen \u03b11\u03b11\u03b12(IV).", "journal": "The Journal of biological chemistry", "date": "2022-11-17", "authors": "Ishikawa Yoshihiro, Taga Yuki, Coste Thibault, Tufa Sara F, Keene Douglas R, Mizuno Kazunori, Tournier-Lasserve Elisabeth, Gould Douglas B", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" } ], "reference": [ { "type": "PubMed", "id": "36403858", "url": "https://glygen.org/publication/PubMed/36403858" } ] }, { "title": "PLOD3 facilitated T cell activation in the colorectal tumor microenvironment and liver metastasis by the TNF-\u03b1/ NF-\u03baB pathway.", "journal": "Journal of translational medicine", "date": "2024-01-06", "authors": "Ding Min, Wang Cheng, Hu Junhong, She Junjun, Shi Ruoyu, Liu Yixuan, Sun Qi, Xu Haojun, Zhou Guoren, Wu Wenlan, Xia Hongping", "evidence": [ { "database": "RefSeq", "id": "NP_001075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075" } ], "reference": [ { "type": "PubMed", "id": "38184566", "url": "https://glygen.org/publication/PubMed/38184566" } ] }, { "title": "Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Hojima Y, van der Rest M, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3905801", "url": "https://glygen.org/publication/PubMed/3905801" } ] }, { "title": "Structure and macromolecular organization of type VI collagen.", "journal": "Annals of the New York Academy of Sciences", "date": "1985", "authors": "Engel J, Furthmayr H, Odermatt E, von der Mark H, Aumailley M, Fleischmajer R, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "3938630", "url": "https://glygen.org/publication/PubMed/3938630" } ] }, { "title": "Electron-microscopical approach to a structural model of intima collagen.", "journal": "The Biochemical journal", "date": "1983", "authors": "Furthmayr H, Wiedemann H, Timpl R, Odermatt E, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6307276", "url": "https://glygen.org/publication/PubMed/6307276" } ] }, { "title": "Human lysyl hydroxylase: purification to homogeneity, partial characterization and comparison of catalytic properties with those of a mutant enzyme from Ehlers-Danlos syndrome type VI fibroblasts.", "journal": "Collagen and related research", "date": "1981", "authors": "Turpeenniemi-Hujanen TM, Puistola U, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "6809411", "url": "https://glygen.org/publication/PubMed/6809411" } ] }, { "title": "The role of cis-trans isomerization of peptide bonds in the coil leads to and comes from triple helix conversion of collagen.", "journal": "European journal of biochemistry", "date": "1978", "authors": "Bachinger HP, Bruckner P, Timpl R, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "710450", "url": "https://glygen.org/publication/PubMed/710450" } ] }, { "title": "Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Valtavaara M, Papponen H, Pirttila AM, Hiltunen K, Helander H, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9054364", "url": "https://glygen.org/publication/PubMed/9054364" } ] }, { "title": "Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wilson R, Lees JF, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9545296", "url": "https://glygen.org/publication/PubMed/9545296" } ] }, { "title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.", "journal": "The Biochemical journal", "date": "1998", "authors": "McLaughlin SH, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9560306", "url": "https://glygen.org/publication/PubMed/9560306" } ] }, { "title": "Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl hydroxylase (lysyl hydroxylase 3)", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Valtavaara M, Szpirer C, Szpirer J, Myllyla R", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" }, { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9582318", "url": "https://glygen.org/publication/PubMed/9582318" } ] }, { "title": "Cloning and characterization of a third human lysyl hydroxylase isoform.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Passoja K, Rautavuoma K, Ala-Kokko L, Kosonen T, Kivirikko KI", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "reference": [ { "type": "PubMed", "id": "9724729", "url": "https://glygen.org/publication/PubMed/9724729" } ] } ], "pathway": [ { "id": "hsa:8985", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8985", "resource": "KEGG Pathway" }, { "id": "R-HSA-1650814", "name": "Collagen biosynthesis and modifying enzymes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814", "resource": "Reactome", "description": "Collagen biosynthesis and modifying enzymes" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5U367-1", "protein_name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3", "gene_name": "Plod3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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[ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "protein O-linked glycosylation", "id": "GO:0006493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006493", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "hydroxylysine biosynthetic process", "id": "GO:0046947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046947", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "basement membrane assembly", "id": "GO:0070831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070831", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "peptidyl-lysine hydroxylation", "id": "GO:0017185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017185", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "O60568", "url": "https://www.uniprot.org/uniprot/O60568" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 N-glycosylated 1 (human)", "definition": "A multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 (human) that has been N-glycosylated at the residue equivalent to Asn-63 of the amino acid sequence represented by UniProtKB:O60568-1, in which the glycan composition is represented by GlyTouCan:G25079LO. Example: UniProtKB:O60568-1, Asn-63, MOD:00160~GNO:G25079LO. [PRO:DNx, PMID:29741879]", "evidence": [ { "id": "PR:000050791", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050791" } ] } ], "site_annotation": [ { "start_pos": 548, "end_pos": 550, "annotation": "n_glycosylation_sequon" }, { "start_pos": 63, "end_pos": 65, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12576", "name": "", "equation": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5U367-1", "O60568-1", "Q9R0E1-1" ], "evidence": [ { "id": "12576", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12576" } ] }, { "id": "12637", "name": "", "equation": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5U367-1", "A6K9X0-1", "Q8NBJ5-1", "Q8IYK4-1", "O60568-1", "Q8K297-1", "Q6NVG7-1", "Q9R0E1-1" ], "evidence": [ { "id": "12637", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12637" } ] }, { "id": "16569", "name": "", "equation": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q811A3-1", "Q63321-1", "Q5U367-1", "O00469-1", "O60568-1", "Q02809-1", "Q9R0B9-1", "Q9R0E1-1", "Q9R0E2-1", "Q9VTH0-1" ], "evidence": [ { "id": "16569", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16569" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A6K9X0", "gene_name": "Colgalt1", "activity": [ { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "A6K9X0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6K9X0" } ] }, { "ec_number": "2.4.1.50", "activity": "", "evidence": [ { "id": "A6K9X0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A6K9X0" } ] } ] }, { "uniprot_ac": "O00469", "gene_name": "PLOD2", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "O00469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00469" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "O00469", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00469" } ] } ] }, { "uniprot_ac": "O60568", "gene_name": "PLOD3", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "O60568", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60568" } ] }, { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "O60568", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60568" } ] }, { "ec_number": "2.4.1.66", "activity": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "O60568", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60568" } ] } ] }, { "uniprot_ac": "Q02809", "gene_name": "PLOD1", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q02809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02809" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q02809", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02809" } ] } ] }, { "uniprot_ac": "Q5U367", "gene_name": "Plod3", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q5U367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5U367" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q5U367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5U367" } ] }, { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q5U367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5U367" } ] }, { "ec_number": "2.4.1.66", "activity": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q5U367", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5U367" } ] } ] }, { "uniprot_ac": "Q63321", "gene_name": "Plod1", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q63321", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63321" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q63321", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63321" } ] } ] }, { "uniprot_ac": "Q6NVG7", "gene_name": "Colgalt2", "activity": [ { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q6NVG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6NVG7" } ] }, { "ec_number": "2.4.1.50", "activity": "", "evidence": [ { "id": "Q6NVG7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6NVG7" } ] } ] }, { "uniprot_ac": "Q811A3", "gene_name": "Plod2", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q811A3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q811A3" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q811A3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q811A3" } ] } ] }, { "uniprot_ac": "Q8IYK4", "gene_name": "COLGALT2", "activity": [ { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q8IYK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYK4" } ] }, { "ec_number": "2.4.1.50", "activity": "", "evidence": [ { "id": "Q8IYK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IYK4" } ] } ] }, { "uniprot_ac": "Q8K297", "gene_name": "Colgalt1", "activity": [ { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q8K297", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K297" } ] }, { "ec_number": "2.4.1.50", "activity": "", "evidence": [ { "id": "Q8K297", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K297" } ] } ] }, { "uniprot_ac": "Q8NBJ5", "gene_name": "COLGALT1", "activity": [ { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q8NBJ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBJ5" } ] }, { "ec_number": "2.4.1.50", "activity": "", "evidence": [ { "id": "Q8NBJ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBJ5" } ] } ] }, { "uniprot_ac": "Q9R0B9", "gene_name": "Plod2", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q9R0B9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0B9" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q9R0B9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0B9" } ] } ] }, { "uniprot_ac": "Q9R0E1", "gene_name": "Plod3", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q9R0E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0E1" } ] }, { "ec_number": "2.4.1.50", "activity": "(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q9R0E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0E1" } ] }, { "ec_number": "2.4.1.66", "activity": "(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D-galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP.", "evidence": [ { "id": "Q9R0E1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0E1" } ] } ] }, { "uniprot_ac": "Q9R0E2", "gene_name": "Plod1", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q9R0E2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0E2" } ] }, { "ec_number": "1.14.11.4", "activity": "", "evidence": [ { "id": "Q9R0E2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9R0E2" } ] } ] }, { "uniprot_ac": "Q9VTH0", "gene_name": "Plod", "activity": [ { "ec_number": "1.14.11.4", "activity": "2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L-lysyl-[collagen] + CO2 + succinate.", "evidence": [ { "id": "Q9VTH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VTH0" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 63, 548 ], "o_linked_sites": [ 25, 65, 604, 701 ], "snv_sites": [ 25, 63, 132, 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