{ "uniprot_canonical_ac": "O15232-1", "uniprot_ac": "O15232", "uniprot_id": "MATN3_HUMAN", "mass": { "chemical_mass": 52817.0, "monoisotopic_mass": 52817.0 }, "refseq": { "ac": "NP_002372", "name": "matrilin-3 precursor", "summary": "This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, "gene_names": [ { "name": "MATN3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15232", "id": "O15232" }, { "name": "DIPOA; EDM5; HOA; OADIP; OS2; SEMDBCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372", "id": "NP_002372" }, { "name": "MATN3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372", "id": "NP_002372" } ], "protein_names": [ { "name": "Matrilin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15232" }, { "name": "matrilin-3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372", "id": "NP_002372" } ], "function": [ { "annotation": "Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, { "database": "PubMed", "id": "36675026", "url": "https://glygen.org/publication/PubMed/36675026" } ] }, { "annotation": "Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, { "database": "PubMed", "id": "33636111", "url": "https://glygen.org/publication/PubMed/33636111" } ] }, { "annotation": "Exosomal MATN3 of Urine-Derived Stem Cells Ameliorates Intervertebral Disc Degeneration by Antisenescence Effects and Promotes NPC Proliferation and ECM Synthesis by Activating TGF-beta. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, { "database": "PubMed", "id": "34136064", "url": "https://glygen.org/publication/PubMed/34136064" } ] }, { "annotation": "Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, { "database": "PubMed", "id": "34900024", "url": "https://glygen.org/publication/PubMed/34900024" } ] }, { "annotation": "Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.", "evidence": [ { "database": "UniProtKB", "id": "O15232", "url": "https://www.uniprot.org/uniprot/O15232#function" } ] }, { "annotation": "The phase separation of extracellular matrix protein matrilin-3 from cancer-associated fibroblasts contributes to gastric cancer invasion.", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" }, { "database": "PubMed", "id": "38193601", "url": "https://glygen.org/publication/PubMed/38193601" } ] }, { "annotation": "This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372" } ] } ], "disease": [ { "disease_id": "DOID:0070299", "recommended_name": { "id": "DOID:0070299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070299", "name": "multiple epiphyseal dysplasia 5", "description": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24." }, "synonyms": [ { "id": "DOID:0070299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070299", "name": "BHMED", "description": "" }, { "id": "DOID:0070299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070299", "name": "EDM5", "description": "" }, { "id": "DOID:0070299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070299", "name": "bilateral hereditary microepiphyseal dysplasia", "description": "" }, { "id": "DOID:0070299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070299", "name": "multiple epiphyseal dysplasia MATN3-related", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "multiple epiphyseal dysplasia type 5", "description": "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission." }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "BHMED", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "EDM5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "MATN3 multiple epiphyseal dysplasia (disease)", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "MED5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "Polyepiphyseal dysplasia type 5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "bilateral hereditary micro-epiphyseal dysplasia", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "epiphyseal dysplasia, multiple, type 5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "Microepiphyseal dysplasia, bilateral hereditary", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "epiphyseal dysplasia multiple 5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "epiphyseal dysplasia, multiple, 5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "multiple epiphyseal dysplasia 5", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "multiple epiphyseal dysplasia, MATN3 related", "description": "" }, { "id": "MONDO:0011765", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011765", "name": "multiple epiphyseal dysplasia, MATN3-related", "description": "" }, { "id": "MIM:607078", "resource": "MIM", "url": "https://www.omim.org/entry/607078", "name": "Multiple epiphyseal dysplasia 5", "description": "Multiple epiphyseal dysplasia 5" } ], "evidence": [ { "id": "607078", "database": "MIM", "url": "https://www.omim.org/entry/607078" } ] }, { "disease_id": "MONDO:0007704", "recommended_name": { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "osteoarthritis susceptibility 2", "description": "" }, "synonyms": [ { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "MATN3 osteoarthritis", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "osteoarthritis caused by mutation in MATN3", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "osteoarthritis susceptibility 2", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "osteoarthritis susceptibility type 2", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "Dipoa", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "Heberden nodes", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "OADIP", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "OS2", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "hand osteoarthritis", "description": "" }, { "id": "MONDO:0007704", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007704", "name": "osteoarthritis of distal interphalangeal joints", "description": "" }, { "id": "MIM:140600", "resource": "MIM", "url": "https://www.omim.org/entry/140600", "name": "Osteoarthritis 2", "description": "Osteoarthritis 2" } ], "evidence": [ { "id": "140600", "database": "MIM", "url": "https://www.omim.org/entry/140600" } ] }, { "disease_id": "MONDO:0012108", "recommended_name": { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia, matrilin-3 type", "description": "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." }, "synonyms": [ { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "SEMD, MATN3-related", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "SEMD, matrilin-3 type", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "SEMD MATN3-related", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia matrilin-3 related", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia matrilin-3 type", "description": "" }, { "id": "MONDO:0012108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012108", "name": "spondyloepimetaphyseal dysplasia, matrilin-3 related", "description": "" }, { "id": "MIM:608728", "resource": "MIM", "url": "https://www.omim.org/entry/608728", "name": "Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type", "description": "Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" } ], "evidence": [ { "id": "608728", "database": "MIM", "url": "https://www.omim.org/entry/608728" } ] } ], "snv": [ { "evidence": [ { "id": "rs751612128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751612128" }, { "id": "rs751612128", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751612128" }, { "id": "rs751612128", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751612128#frequency_tab" }, { "id": "rs751612128", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751612128" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 193, "end_pos": 193, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IVT->NVT).", "chr_id": "2", "chr_pos": "20005956", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I193", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200161462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200161462" }, { "id": "rs200161462", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200161462" }, { "id": "rs200161462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200161462" }, { "id": "rs200161462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200161462" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 301, "end_pos": 301, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "2", "chr_pos": "20003174", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "K301", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15232", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15232" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 385, "end_pos": 385, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "2", "chr_pos": "20000454", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K385", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"O15232-2", "url": "", "sequence": { "sequence": "MPRPAPARRLPGLLLLLWPLLLLPSAAPDPVARPGFRRLETRGPGGSPGRRPSPAAPDGAPASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEEHVFYVETYGVIEKLSSRFQETFCALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQHICVNDRTGSHHCECYEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCSATEEARRLVSTEDACGCEATLAFQDKVSSYLQRLNTKLDDILEKLKINEYGQIHR", "length": 444, "header": "sp|O15232-2|MATN3_HUMAN Isoform 2 of Matrilin-3 OS=Homo sapiens OX=9606 GN=MATN3 PE=1 SV=2 CANONICAL=O15232-1" }, "locus": { "chromosome": "2", "start_pos": 20012631, "end_pos": 19993114, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421259.2", "url": "https://www.ensembl.org/id/ENST00000421259.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000398753.2", "url": "https://www.ensembl.org/id/ENSP00000398753.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RPSPAAPDGAPASGTSEPGR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 51, "start_aa": "Arg", "end_pos": 70, "end_aa": "Arg", "evidence": [ { "id": "O15232", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 53, "start_aa": "Ser", "end_pos": 53, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser53", "evidence": [ { "id": "O15232", "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" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 65, "start_aa": "Thr", "end_pos": 65, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr65", "evidence": [ { "id": "O15232", "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" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TS", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 65, "start_aa": "Thr", "end_pos": 66, "end_aa": "Ser", "evidence": [ { "id": "O15232", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 66, "start_aa": "Ser", "end_pos": 66, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser66", "evidence": [ { "id": "O15232", "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": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15232", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15232" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 441, "end_pos": 441, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O15232", "url": "https://www.uniprot.org/uniprot/O15232" }, { "database": "iPTMnet", "id": "O15232", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15232" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ], "site_lbl": "Ser441" }, { "start_pos": 442, "end_pos": 442, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by FAM20C", "evidence": [ { "database": "UniProtKB", "id": "O15232", "url": "https://www.uniprot.org/uniprot/O15232" }, { "database": "iPTMnet", "id": "O15232", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15232" }, { "database": "PubMed", "id": "26091039", "url": "https://glygen.org/publication/PubMed/26091039" } ], "site_lbl": "Thr442" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O15232", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O15232", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "N-Linked glycosylation and sialylation of the acid-labile subunit. Role in complex formation with insulin-like growth factor (IGF)-binding protein-3 and the IGFs.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Janosi JB, Firth SM, Bond JJ, Baxter RC, Delhanty PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10026136", "url": "https://glygen.org/publication/PubMed/10026136" } ] }, { "title": "The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lawrence JB, Oxvig C, Overgaard MT, Sottrup-Jensen L, Gleich GJ, Hays LG, Yates JR 3rd, Conover CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10077652", "url": "https://glygen.org/publication/PubMed/10077652" } ] }, { "title": "The cleavage site specificity of human prostate specific antigen for insulin-like growth factor binding protein-3.", "journal": "FEBS letters", "date": "1999", "authors": "Okabe E, Kajihara J, Usami Y, Hirano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10218588", "url": "https://glygen.org/publication/PubMed/10218588" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "Inflammation-related neutrophil proteases, cathepsin G and elastase, function as insulin-like growth factor binding protein proteases.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1999", "authors": "Gibson TL, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10512690", "url": "https://glygen.org/publication/PubMed/10512690" } ] }, { "title": "A central domain binding site in insulin-like growth factor binding protein-5 for the acid-labile subunit.", "journal": "Endocrinology", "date": "2000", "authors": "Twigg SM, Kiefer MC, Zapf J, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10614670", "url": "https://glygen.org/publication/PubMed/10614670" } ] }, { "title": "Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain.", "journal": "Molecular and cellular neurosciences", "date": "2000", "authors": "Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10673326", "url": "https://glygen.org/publication/PubMed/10673326" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP)-3-bound IGF-I and IGFBP-3-bound IGF-II in growth hormone deficiency.", "journal": "Hormone research", "date": "1999", "authors": "Belgorosky A, Rivarola MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10681634", "url": "https://glygen.org/publication/PubMed/10681634" } ] }, { "title": "Binding characteristics of pro-insulin-like growth factor-II from cancer patients: binary and ternary complex formation with IGF binding proteins-1 to -6.", "journal": "The Journal of endocrinology", "date": "2000", "authors": "Bond JJ, Meka S, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10810289", "url": "https://glygen.org/publication/PubMed/10810289" } ] }, { "title": "Evidence that the interaction between insulin-like growth factor (IGF)-II and IGF binding protein (IGFBP)-4 is essential for the action of the IGF-II-dependent IGFBP-4 protease.", "journal": "Archives of biochemistry and biophysics", "date": "2000", "authors": "Qin X, Byun D, Lau KH, Baylink DJ, Mohan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10898936", "url": "https://glygen.org/publication/PubMed/10898936" } ] }, { "title": "Effects of IGFBP-2 overexpression in vitro and in vivo.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2000", "authors": "Wolf E, Lahm H, Wu M, Wanke R, Hoeflich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10912521", "url": "https://glygen.org/publication/PubMed/10912521" } ] }, { "title": "O-glycosylation of insulin-like growth factor (IGF) binding protein-6 maintains high IGF-II binding affinity by decreasing binding to glycosaminoglycans and susceptibility to proteolysis.", "journal": "European journal of biochemistry", "date": "2000", "authors": "Marinaro JA, Neumann GM, Russo VC, Leeding KS, Bach LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10951195", "url": "https://glygen.org/publication/PubMed/10951195" } ] }, { "title": "Prostate carcinoma (PC-3) cell proliferation is stimulated by the 22-25-kDa proteolytic fragment (1-160) and inhibited by the 16-kDa fragment (1-95) of recombinant human insulin-like growth factor binding protein-3.", "journal": "Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society", "date": "1998", "authors": "Angelloz-Nicoud P, Lalou C, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "10990447", "url": "https://glygen.org/publication/PubMed/10990447" } ] }, { "title": "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11084047", "url": "https://glygen.org/publication/PubMed/11084047" } ] }, { "title": "Pregnancy-associated plasma protein-A accounts for the insulin-like growth factor (IGF)-binding protein-4 (IGFBP-4) proteolytic activity in human pregnancy serum and enhances the mitogenic activity of IGF by degrading IGFBP-4 in vitro.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Byun D, Mohan S, Yoo M, Sexton C, Baylink DJ, Qin X", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11158056", "url": "https://glygen.org/publication/PubMed/11158056" } ] }, { "title": "Ligand-binding characteristics of recombinant amino- and carboxyl-terminal fragments of human insulin-like growth factor-binding protein-3.", "journal": "The Journal of endocrinology", "date": "2001", "authors": "Galanis M, Firth SM, Bond J, Nathanielsz A, Kortt AA, Hudson PJ, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11250653", "url": "https://glygen.org/publication/PubMed/11250653" } ] }, { "title": "Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wiberg C, Hedbom E, Khairullina A, Lamande SR, Oldberg A, Timpl R, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11259413", "url": "https://glygen.org/publication/PubMed/11259413" } ] }, { "title": "Pregnancy-associated plasma protein-A2 (PAPP-A2), a novel insulin-like growth factor-binding protein-5 proteinase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Overgaard MT, Boldt HB, Laursen LS, Sottrup-Jensen L, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11264294", "url": "https://glygen.org/publication/PubMed/11264294" } ] }, { "title": "Mutagenesis of basic amino acids in the carboxyl-terminal region of insulin-like growth factor binding protein-5 affects acid-labile subunit binding.", "journal": "Endocrinology", "date": "2001", "authors": "Firth SM, Clemmons DR, Baxter RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11316783", "url": "https://glygen.org/publication/PubMed/11316783" } ] }, { "title": "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.", "journal": "Nature genetics", "date": "2001", "authors": "Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD", "evidence": [ { "database": "UniProtKB", "id": "O15232", "url": "https://www.uniprot.org/uniprot/O15232" } ], "reference": [ { "type": "PubMed", "id": "11479597", "url": "https://glygen.org/publication/PubMed/11479597" } ] }, { "title": "Pregnancy-associated plasma protein-A (PAPP-A) cleaves insulin-like growth factor binding protein (IGFBP)-5 independent of IGF: implications for the mechanism of IGFBP-4 proteolysis by PAPP-A.", "journal": "FEBS letters", "date": "2001", "authors": "Laursen LS, Overgaard MT, Soe R, Boldt HB, Sottrup-Jensen L, Giudice LC, Conover CA, Oxvig C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11522292", "url": "https://glygen.org/publication/PubMed/11522292" } ] }, { "title": "Insulin-like growth factor-binding protein-5 inhibits growth and induces differentiation of mouse osteosarcoma cells.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Schneider MR, Zhou R, Hoeflich A, Krebs O, Schmidt J, Mohan S, Wolf E, Lahm H", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "11606061", "url": "https://glygen.org/publication/PubMed/11606061" } ] }, { "title": "IGFBP-3 binding to endothelial cells inhibits plasmin and thrombin proteolysis.", "journal": "American journal of physiology. 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