{ "uniprot_canonical_ac": "P02461-1", "uniprot_ac": "P02461", "uniprot_id": "CO3A1_HUMAN", "mass": { "chemical_mass": 138564.0, "monoisotopic_mass": 138564.0 }, "refseq": { "ac": "NP_000081", "name": "collagen alpha-1(III) chain preproprotein", "summary": "This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" }, "gene_names": [ { "name": "COL3A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02461", "id": "P02461" }, { "name": "COL3A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081", "id": "NP_000081" }, { "name": "EDS4A; EDSVASC; PMGEDSV", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081", "id": "NP_000081" } ], "protein_names": [ { "name": "Collagen alpha-1(III) chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02461" }, { "name": "Ehlers-Danlos syndrome type IV, autosomal dominant; collagen, type III, alpha 1; collagen, fetal; collagen alpha-1(III) chain; alpha-1 type III collagen; alpha1 (III) collagen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081", "id": "NP_000081" }, { "name": "collagen alpha-1(III) chain preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081", "id": "NP_000081" } ], "function": [ { "annotation": "COL3A1 Overexpression Associates with Poor Prognosis and Cisplatin Resistance in Lung Cancer", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" }, { "database": "PubMed", "id": "36148899", "url": "https://glygen.org/publication/PubMed/36148899" } ] }, { "annotation": "COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" }, { "database": "PubMed", "id": "36930067", "url": "https://glygen.org/publication/PubMed/36930067" } ] }, { "annotation": "Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461#function" } ] }, { "annotation": "Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" }, { "database": "PubMed", "id": "36866665", "url": "https://glygen.org/publication/PubMed/36866665" } ] }, { "annotation": "Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" }, { "database": "PubMed", "id": "37461200", "url": "https://glygen.org/publication/PubMed/37461200" } ] }, { "annotation": "This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. 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"https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1576455552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1576455552" }, { "id": "rs1576455552", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1576455552" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "2", "chr_pos": "188974510", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K7", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1159141394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1159141394" }, { "id": "rs1159141394", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1159141394" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 889, "end_pos": 889, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "2", "chr_pos": "189003986", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N889", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs587779567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587779567" }, { "id": "rs587779567", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs587779567" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 912, "end_pos": 912, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "2", "chr_pos": "189004266", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G912", "disease": [ { "disease_id": "DOID:14756", "recommended_name": { "id": "DOID:14756", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14756", "name": "vascular type Ehlers-Danlos syndrome", "description": "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." }, "synonyms": [ { "id": "DOID:14756", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14756", "name": "autosomal dominant type IV Ehlers-Danlos syndrome", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "description": "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "EDS 4", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, vascular type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, type IV, autosomal dominant", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, vascular type, autosomal dominant", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant Ehlers-Danlos syndrome, vascular type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "EDSVASC", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, Ecchymotic type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, arterial type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "Ehlers-Danlos syndrome, sack-Barabas type", "description": "" }, { "id": "MONDO:0007524", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007524", "name": "autosomal dominant type IV Ehlers-Danlos syndrome", "description": "" }, { "id": "MIM:130050", "resource": "MIM", "url": "https://www.omim.org/entry/130050", "name": "Ehlers-Danlos syndrome, vascular type", "description": "Ehlers-Danlos syndrome, vascular type" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1337978210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1337978210" }, { "id": "rs1337978210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1337978210#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 932, "end_pos": 932, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "2", "chr_pos": "189004116", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K932", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747012044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747012044" }, { "id": "rs747012044", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747012044" }, { "id": "rs747012044", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747012044#frequency_tab" }, { "id": "rs747012044", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747012044" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 96, "end_pos": 96, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "2", "chr_pos": "188985200", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T96", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "99.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168542", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168542" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02461" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02461", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02461" } ], "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/P02461" } ], "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": [ { 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"length": 1433, "header": "tr|H7C435-1|H7C435_HUMAN Computationally mapped isoform of Collagen type III alpha 1 chain OS=Homo sapiens OX=9606 GN=COL3A1 PE=1 SV=2 CANONICAL=P02461-1" }, "locus": {} }, { "isoform_ac": "P02461-1", "url": "", "sequence": { "sequence": "MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL", "length": 1466, "header": "sp|P02461-1|CO3A1_HUMAN Isoform 1 of Collagen alpha-1(III) chain OS=Homo sapiens OX=9606 GN=COL3A1 PE=1 SV=4 CANONICAL=P02461-1" }, "locus": { "chromosome": "2", "start_pos": 189011771, "end_pos": 188974490, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000304636.9", "url": "https://www.ensembl.org/id/ENST00000304636.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000304408.4", "url": "https://www.ensembl.org/id/ENSP00000304408.4" } ] } }, { "isoform_ac": "P02461-2", "url": "", "sequence": { "sequence": "MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL", "length": 1163, "header": "sp|P02461-2|CO3A1_HUMAN Isoform 2 of Collagen alpha-1(III) chain OS=Homo sapiens OX=9606 GN=COL3A1 PE=1 SV=4 CANONICAL=P02461-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GPVGPSGPPGK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 1140, "start_aa": "Gly", "end_pos": 1150, "end_aa": "Lys", "evidence": [ { "id": "P02461", "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": 1145, "start_aa": "Ser", "end_pos": 1145, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1145", "evidence": [ { "id": "P02461", "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": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "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": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G25637MV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "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": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "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": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "1127", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1127" }, { "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": 1367, "start_aa": "Asn", "end_pos": 1367, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1367", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Thr", "end_pos": 146, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr146", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 152, "start_aa": "Ser", "end_pos": 152, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser152", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 152, "start_aa": "Ser", "end_pos": 152, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser152", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine; alternate O-galactosylation", "start_pos": 263, "start_aa": "Lys", "end_pos": 263, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys263", "evidence": [ { "id": "P02461", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02461#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 614, "start_aa": "Thr", "end_pos": 614, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr614", "evidence": [ { "id": "P02461", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02461" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 646, "start_aa": "Thr", "end_pos": 646, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr646", "evidence": [ { "id": "P02461", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02461" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 721, "start_aa": "Thr", "end_pos": 721, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr721", "evidence": [ { "id": "P02461", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02461" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 736, "start_aa": "Ser", "end_pos": 736, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser736", "evidence": [ { "id": "P02461", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02461" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G29068FM", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 96, "start_aa": "Thr", "end_pos": 96, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr96", "evidence": [ { "id": "P02461", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] } ], "phosphorylation": [ { "start_pos": 1378, "end_pos": 1378, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P02461", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02461" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "phospho.ELM", "id": "P02461", "url": "http://phospho.elm.eu.org/byAccession/P02461.html" } ], "site_lbl": "Tyr1378" }, { "start_pos": 1383, "end_pos": 1383, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P02461", "url": "http://phospho.elm.eu.org/byAccession/P02461.html" }, { "database": "iPTMnet", "id": "P02461", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02461" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ], "site_lbl": "Ser1383" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "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": "P02461", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "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": "Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Ramchandran R, Dhanabal M, Volk R, Waterman MJ, Segal M, Lu H, Knebelmann B, Sukhatme VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10049780", "url": "https://glygen.org/publication/PubMed/10049780" } ] }, { "title": "The integrin alpha9beta1 mediates adhesion to activated endothelial cells and transendothelial neutrophil migration through interaction with vascular cell adhesion molecule-1.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Taooka Y, Chen J, Yednock T, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10209034", "url": "https://glygen.org/publication/PubMed/10209034" } ] }, { "title": "Role of the scavenger receptor MARCO in alveolar macrophage binding of unopsonized environmental particles.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Palecanda A, Paulauskis J, Al-Mutairi E, Imrich A, Qin G, Suzuki H, Kodama T, Tryggvason K, Koziel H, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "10224290", "url": "https://glygen.org/publication/PubMed/10224290" } ] }, { "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": [ { 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"https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11577169", "url": "https://glygen.org/publication/PubMed/11577169" } ] }, { "title": "Distinct glycoprotein Ib/V/IX and integrin alpha IIbbeta 3-dependent calcium signals cooperatively regulate platelet adhesion under flow.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nesbitt WS, Kulkarni S, Giuliano S, Goncalves I, Dopheide SM, Yap CL, Harper IS, Salem HH, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11713259", "url": "https://glygen.org/publication/PubMed/11713259" } ] }, { "title": "A reassessment of the MAdCAM-1 structure and its role in integrin recognition.", "journal": "Acta crystallographica. 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and FGF receptors.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Knox S, Merry C, Stringer S, Melrose J, Whitelock J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "11847221", "url": "https://glygen.org/publication/PubMed/11847221" } ] }, { "title": "Inhibition of LFA-1/ICAM-1 and VLA-4/VCAM-1 as a therapeutic approach to inflammation and autoimmune diseases.", "journal": "Medicinal research reviews", "date": "2002", "authors": "Yusuf-Makagiansar H, Anderson ME, Yakovleva TV, Murray JS, Siahaan TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11857637", "url": "https://glygen.org/publication/PubMed/11857637" } ] }, { "title": "Structure and function of major histocompatibility complex (MHC) class I specific receptors expressed on human natural killer (NK) cells.", "journal": "Molecular immunology", "date": "2002", "authors": "Borrego F, Kabat J, Kim DK, Lieto L, Maasho K, Pena J, Solana R, Coligan JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11858820", "url": "https://glygen.org/publication/PubMed/11858820" } ] }, { "title": "KIR: diverse, rapidly evolving receptors of innate and adaptive immunity.", "journal": "Annual review of immunology", "date": "2002", "authors": "Vilches C, Parham P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11861603", "url": "https://glygen.org/publication/PubMed/11861603" } ] }, { "title": "CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV.", "journal": "The EMBO journal", "date": "2002", "authors": "Hashimoto T, Wakabayashi T, Watanabe A, Kowa H, Hosoda R, Nakamura A, Kanazawa I, Arai T, Takio K, Mann DM, Iwatsubo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "11927537", "url": "https://glygen.org/publication/PubMed/11927537" } ] }, { "title": "A structural perspective on MHC class I recognition by killer cell immunoglobulin-like receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Boyington JC, Sun PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955593", "url": "https://glygen.org/publication/PubMed/11955593" } ] }, { "title": "Asymmetric ligand recognition by the activating natural killer cell receptor NKG2D, a symmetric homodimer.", "journal": "Molecular immunology", "date": "2002", "authors": "Strong RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955595", "url": "https://glygen.org/publication/PubMed/11955595" } ] }, { "title": "Recognition of immunoglobulins by Fcgamma receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Radaev S, Sun P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955599", "url": "https://glygen.org/publication/PubMed/11955599" } ] }, { "title": "Interactions of thrombospondins with alpha4beta1 integrin and CD47 differentially modulate T cell behavior.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Li Z, Calzada MJ, Sipes JM, Cashel JA, Krutzsch HC, Annis DS, Mosher DF, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11980922", "url": "https://glygen.org/publication/PubMed/11980922" } ] }, { "title": "CS1, a novel member of the CD2 family, is homophilic and regulates NK cell function.", "journal": "Molecular immunology", "date": "2002", "authors": "Kumaresan PR, Lai WC, Chuang SS, Bennett M, Mathew PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12213321", "url": "https://glygen.org/publication/PubMed/12213321" } ] }, { "title": "Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Di Cesare PE, Chen FS, Moergelin M, Carlson CS, Leslie MP, Perris R, Fang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "12225811", "url": "https://glygen.org/publication/PubMed/12225811" } ] }, { "title": "BAY 43-9006: preclinical data.", "journal": "Current pharmaceutical design", "date": "2002", "authors": "Wilhelm S, Chien DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "12369853", "url": "https://glygen.org/publication/PubMed/12369853" } ] }, { "title": "Structural basis of type VI collagen dimer formation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ball S, Bella J, Kielty C, Shuttleworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12473679", "url": "https://glygen.org/publication/PubMed/12473679" } ] }, { "title": "The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Wang C, Luosujarvi H, Heikkinen J, Risteli M, Uitto L, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12475640", "url": "https://glygen.org/publication/PubMed/12475640" } ] }, { "title": "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.", "journal": "Journal of cell science", "date": "2003", "authors": "Koster J, Geerts D, Favre B, Borradori L, Sonnenberg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "12482924", "url": "https://glygen.org/publication/PubMed/12482924" } ] }, { "title": "Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.", "journal": "Human genetics", "date": "2003", "authors": "Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12483297", "url": "https://glygen.org/publication/PubMed/12483297" } ] }, { "title": "The class A scavenger receptor binds to proteoglycans and mediates adhesion of macrophages to the extracellular matrix.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Santiago-Garcia J, Kodama T, Pitas RE", "evidence": [ { 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relationship.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2003", "authors": "Mendel DB, Laird AD, Xin X, Louie SG, Christensen JG, Li G, Schreck RE, Abrams TJ, Ngai TJ, Lee LB, Murray LJ, Carver J, Chan E, Moss KG, Haznedar JO, Sukbuntherng J, Blake RA, Sun L, Tang C, Miller T, Shirazian S, McMahon G, Cherrington JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "12538485", "url": "https://glygen.org/publication/PubMed/12538485" } ] }, { "title": "Loss of types XV and XIX collagen precedes basement membrane invasion in ductal carcinoma of the female breast.", "journal": "The Journal of pathology", "date": "2003", "authors": "Amenta PS, Hadad S, Lee MT, Barnard N, Li D, Myers JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": 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A procollagen III N-proteinase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12646579", "url": "https://glygen.org/publication/PubMed/12646579" } ] }, { "title": "Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12682293", "url": "https://glygen.org/publication/PubMed/12682293" } ] }, { "title": "Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.", "journal": "Clinical genetics", "date": "2003", "authors": "Kroes HY, Pals G, van Essen AJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "12694234", "url": "https://glygen.org/publication/PubMed/12694234" } ] }, { "title": "SRCL/CL-P1 recognizes GalNAc and a carcinoma-associated antigen, Tn antigen.", "journal": "Journal of biochemistry", "date": "2003", "authors": "Yoshida T, Tsuruta Y, Iwasaki M, Yamane S, Ochi T, Suzuki R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12761161", "url": "https://glygen.org/publication/PubMed/12761161" } ] }, { "title": "Oxidative stress impairs endocytosis of the scavenger receptor class A.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Aguilar-Gaytan R, Mas-Oliva J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12763022", "url": "https://glygen.org/publication/PubMed/12763022" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.", "journal": "Clinical genetics", "date": "2003", "authors": "Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "12786757", "url": "https://glygen.org/publication/PubMed/12786757" } ] }, { "title": "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bax DV, Bernard SE, Lomas A, Morgan A, Humphries J, Shuttleworth CA, Humphries MJ, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12807887", "url": "https://glygen.org/publication/PubMed/12807887" } ] }, { "title": "Identification of uteroglobin-related protein 1 and macrophage scavenger receptor with collagenous structure as a lung-specific ligand-receptor pair.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Bin LH, Nielson LD, Liu X, Mason RJ, Shu HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "12847263", "url": "https://glygen.org/publication/PubMed/12847263" } ] }, { "title": "Syndecan-4 as a molecule involved in defense mechanisms.", "journal": "Glycoconjugate journal", "date": "2002", "authors": "Ishiguro K, Kojima T, Muramatsu T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "12975610", "url": "https://glygen.org/publication/PubMed/12975610" } ] }, { "title": "The extracellular glycoprotein SPARC interacts with platelet-derived growth factor (PDGF)-AB and -BB and inhibits the binding of PDGF to its receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Raines EW, Lane TF, Iruela-Arispe ML, Ross R, Sage EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "1311092", "url": "https://glygen.org/publication/PubMed/1311092" } ] }, { "title": "Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Vuori K, Pihlajaniemi T, Marttila M, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1323838", "url": "https://glygen.org/publication/PubMed/1323838" } ] }, { "title": "Molecular flypaper, atherosclerosis, and host defense: structure and function of the macrophage scavenger receptor.", "journal": "Cold Spring Harbor symposia on quantitative biology", "date": "1992", "authors": "Krieger M, Abrams JM, Lux A, Steller H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "1339697", "url": "https://glygen.org/publication/PubMed/1339697" } ] }, { "title": "A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.", "journal": "Human genetics", "date": "1992", "authors": "Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC, Pope FM", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1352273", "url": "https://glygen.org/publication/PubMed/1352273" } ] }, { "title": "A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.", "journal": "Journal of inherited metabolic disease", "date": "1992", "authors": "Johnson PH, Richards AJ, Pope FM, Hopkinson DA", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1357232", "url": "https://glygen.org/publication/PubMed/1357232" } ] }, { "title": "A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.", "journal": "Human genetics", "date": "1992", "authors": "Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, De Paepe A, Pope FM", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1370809", "url": "https://glygen.org/publication/PubMed/1370809" } ] }, { "title": "Mapping of binding sites for heparin, plasminogen activator inhibitor-1, and plasminogen to vitronectin's heparin-binding region reveals a novel vitronectin-dependent feedback mechanism for the control of plasmin formation.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Kost C, Stuber W, Ehrlich HJ, Pannekoek H, Preissner KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1376317", "url": "https://glygen.org/publication/PubMed/1376317" } ] }, { "title": "Characterization of collagen types XII and XIV from fetal bovine cartilage.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Watt SL, Lunstrum GP, McDonough AM, Keene DR, Burgeson RE, Morris NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "1400327", "url": "https://glygen.org/publication/PubMed/1400327" } ] }, { "title": "Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kukkola L, Hieta R, Kivirikko KI, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "14500733", "url": "https://glygen.org/publication/PubMed/14500733" } ] }, { "title": "Covalent cross-linking of the NC1 domain of collagen type IX to collagen type II in cartilage.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Eyre DR, Pietka T, Weis MA, Wu JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "14602708", "url": "https://glygen.org/publication/PubMed/14602708" } ] }, { "title": "Scavenger receptor-A mediates gp96/GRP94 and calreticulin internalization by antigen-presenting cells.", "journal": "The EMBO journal", "date": "2003", "authors": "Berwin B, Hart JP, Rice S, Gass C, Pizzo SV, Post SR, Nicchitta CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "14609958", "url": "https://glygen.org/publication/PubMed/14609958" } ] }, { "title": "Vitronectin's basic domain is a syndecan ligand which functions in trans to regulate vitronectin turnover.", "journal": "Cell communication & adhesion", "date": "2003", "authors": "Wilkins-Port CE, Sanderson RD, Tominna-Sebald E, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "14681059", "url": "https://glygen.org/publication/PubMed/14681059" } ] }, { "title": "Neurite outgrowth by the alternatively spliced region of human tenascin-C is mediated by neuronal alpha7beta1 integrin.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Mercado ML, Nur-e-Kamal A, Liu HY, Gross SR, Movahed R, Meiners S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "14715956", "url": "https://glygen.org/publication/PubMed/14715956" } ] }, { "title": "Signaling by the CD19/CD21 complex on B cells.", "journal": "Current directions in autoimmunity", "date": "2004", "authors": "Carter RH, Barrington RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14719373", "url": "https://glygen.org/publication/PubMed/14719373" } ] }, { "title": "Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.", "journal": "American journal of human genetics", "date": "1992", "authors": "Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1496983", "url": "https://glygen.org/publication/PubMed/1496983" } ] }, { "title": "Activation of natural killer cells and dendritic cells upon recognition of a novel CD99-like ligand by paired immunoglobulin-like type 2 receptor.", "journal": "The Journal of experimental medicine", "date": "2004", "authors": "Shiratori I, Ogasawara K, Saito T, Lanier LL, Arase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14970179", "url": "https://glygen.org/publication/PubMed/14970179" } ] }, { "title": "Syndecan-2 regulates transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Chen L, Klass C, Woods A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "14976204", "url": "https://glygen.org/publication/PubMed/14976204" } ] }, { "title": "The shed ectodomain of type XIII collagen affects cell behaviour in a matrix-dependent manner.", "journal": "The Biochemical journal", "date": "2004", "authors": "Vaisanen MR, Vaisanen T, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15005656", "url": "https://glygen.org/publication/PubMed/15005656" } ] }, { "title": "Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155).", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Fuchs A, Cella M, Giurisato E, Shaw AS, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15034010", "url": "https://glygen.org/publication/PubMed/15034010" } ] }, { "title": "Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Vranka JA, Sakai LY, Bachinger HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "15044469", "url": "https://glygen.org/publication/PubMed/15044469" } ] }, { "title": "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15075323", "url": "https://glygen.org/publication/PubMed/15075323" } ] }, { "title": "Crystal structure of the human T cell receptor CD3 epsilon gamma heterodimer complexed to the therapeutic mAb OKT3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Kjer-Nielsen L, Dunstone MA, Kostenko L, Ely LK, Beddoe T, Mifsud NA, Purcell AW, Brooks AG, McCluskey J, Rossjohn J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15136729", "url": "https://glygen.org/publication/PubMed/15136729" } ] }, { "title": "OSCAR is an FcRgamma-associated receptor that is expressed by myeloid cells and is involved in antigen presentation and activation of human dendritic cells.", "journal": "Blood", "date": "2004", "authors": "Merck E, Gaillard C, Gorman DM, Montero-Julian F, Durand I, Zurawski SM, Menetrier-Caux C, Carra G, Lebecque S, Trinchieri G, Bates EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15155468", "url": "https://glygen.org/publication/PubMed/15155468" } ] }, { "title": "CD200 is a ligand for all members of the CD200R family of immunoregulatory molecules.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Gorczynski R, Chen Z, Kai Y, Lee L, Wong S, Marsden PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15187158", "url": "https://glygen.org/publication/PubMed/15187158" } ] }, { "title": "The PDGF family: four gene products form five dimeric isoforms.", "journal": "Cytokine & growth factor reviews", "date": "2004", "authors": "Fredriksson L, Li H, Eriksson U", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15207811", "url": "https://glygen.org/publication/PubMed/15207811" } ] }, { "title": "Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Bix G, Fu J, Gonzalez EM, Macro L, Barker A, Campbell S, Zutter MM, Santoro SA, Kim JK, Hook M, Reed CC, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15240572", "url": "https://glygen.org/publication/PubMed/15240572" } ] }, { "title": "Collagenase unwinds triple-helical collagen prior to peptide bond hydrolysis.", "journal": "The EMBO journal", "date": "2004", "authors": "Chung L, Dinakarpandian D, Yoshida N, Lauer-Fields JL, Fields GB, Visse R, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15257288", "url": "https://glygen.org/publication/PubMed/15257288" } ] }, { "title": "CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.", "journal": "Blood", "date": "2004", "authors": "Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "15265795", "url": "https://glygen.org/publication/PubMed/15265795" } ] }, { "title": "Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Lundell A, Olin AI, Morgelin M, al-Karadaghi S, Aspberg A, Logan DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15296743", "url": "https://glygen.org/publication/PubMed/15296743" } ] }, { "title": "The LILR family: modulators of innate and adaptive immune pathways in health and disease.", "journal": "Tissue antigens", "date": "2004", "authors": "Brown D, Trowsdale J, Allen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15304001", "url": "https://glygen.org/publication/PubMed/15304001" } ] }, { "title": "Functional assessment of alphaEbeta7/E-cadherin interactions in the steady state postnatal thymus.", "journal": "Clinical & developmental immunology", "date": "2004", "authors": "Prockop SE, Petrie HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15330449", "url": "https://glygen.org/publication/PubMed/15330449" } ] }, { "title": "Galectin-3 is induced in rheumatoid arthritis synovial fibroblasts after adhesion to cartilage oligomeric matrix protein.", "journal": "Annals of the rheumatic diseases", "date": "2005", "authors": "Neidhart M, Zaucke F, von Knoch R, Jungel A, Michel BA, Gay RE, Gay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15345499", "url": "https://glygen.org/publication/PubMed/15345499" } ] }, { "title": "The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kapyla J, Jaalinoja J, Tulla M, Ylostalo J, Nissinen L, Viitasalo T, Vehvilainen P, Marjomaki V, Nykvist P, Saamanen AM, Farndale RW, Birk DE, Ala-Kokko L, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15383545", "url": "https://glygen.org/publication/PubMed/15383545" } ] }, { "title": "Binding of the proteoglycan decorin to collagen type VI.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R, Hook M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1544908", "url": "https://glygen.org/publication/PubMed/1544908" } ] }, { "title": "The syndecan-1 ectodomain regulates alphavbeta3 integrin activity in human mammary carcinoma cells.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Beauvais DM, Burbach BJ, Rapraeger AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "15479743", "url": "https://glygen.org/publication/PubMed/15479743" } ] }, { "title": "Crystal structure of a human CD3-epsilon/delta dimer in complex with a UCHT1 single-chain antibody fragment.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Arnett KL, Harrison SC, Wiley DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15534202", "url": "https://glygen.org/publication/PubMed/15534202" } ] }, { "title": "The SAP family of adaptors in immune regulation.", "journal": "Seminars in immunology", "date": "2004", "authors": "Latour S, Veillette A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15541655", "url": "https://glygen.org/publication/PubMed/15541655" } ] }, { "title": "The KIR gene family: life in the fast lane of evolution.", "journal": "European journal of immunology", "date": "2005", "authors": "Uhrberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15580655", "url": "https://glygen.org/publication/PubMed/15580655" } ] }, { "title": "PVR (CD155) and Nectin-2 (CD112) as ligands of the human DNAM-1 (CD226) activating receptor: involvement in tumor cell lysis.", "journal": "Molecular immunology", "date": "2005", "authors": "Pende D, Bottino C, Castriconi R, Cantoni C, Marcenaro S, Rivera P, Spaggiari GM, Dondero A, Carnemolla B, Reymond N, Mingari MC, Lopez M, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15607800", "url": "https://glygen.org/publication/PubMed/15607800" } ] }, { "title": "Discovery of N-(2-chloro-6-methyl- phenyl)-2-(6-(4-(2-hydroxyethyl)- piperazin-1-yl)-2-methylpyrimidin-4- ylamino)thiazole-5-carboxamide (BMS-354825), a dual Src/Abl kinase inhibitor with potent antitumor activity in preclinical assays.", "journal": "Journal of medicinal chemistry", "date": "2004", "authors": "Lombardo LJ, Lee FY, Chen P, Norris D, Barrish JC, Behnia K, Castaneda S, Cornelius LA, Das J, Doweyko AM, Fairchild C, Hunt JT, Inigo I, Johnston K, Kamath A, Kan D, Klei H, Marathe P, Pang S, Peterson R, Pitt S, Schieven GL, Schmidt RJ, Tokarski J, Wen ML, Wityak J, Borzilleri RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15615512", "url": "https://glygen.org/publication/PubMed/15615512" } ] }, { "title": "Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes.", "journal": "Journal of cell science", "date": "2005", "authors": "Bengtsson T, Aszodi A, Nicolae C, Hunziker EB, Lundgren-Akerlund E, Fassler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15713743", "url": "https://glygen.org/publication/PubMed/15713743" } ] }, { "title": "Targeting the platelet-derived growth factor receptor alpha with a neutralizing human monoclonal antibody inhibits the growth of tumor xenografts: implications as a potential therapeutic target.", "journal": "Molecular cancer therapeutics", "date": "2005", "authors": "Loizos N, Xu Y, Huber J, Liu M, Lu D, Finnerty B, Rolser R, Malikzay A, Persaud A, Corcoran E, Deevi DS, Balderes P, Bassi R, Jimenez X, Joynes CJ, Mangalampalli VR, Steiner P, Tonra JR, Wu Y, Pereira DS, Zhu Z, Ludwig DL, Hicklin DJ, Bohlen P, Witte L, Kussie P", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "15767546", "url": "https://glygen.org/publication/PubMed/15767546" } ] }, { "title": "Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3----p36.2.", "journal": "Genomics", "date": "1992", "authors": "Hautala T, Byers MG, Eddy RL, Shows TB, Kivirikko KI, Myllyla R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1577494", "url": "https://glygen.org/publication/PubMed/1577494" } ] }, { "title": "CD19 function in central and peripheral B-cell development.", "journal": "Immunologic research", "date": "2005", "authors": "Del Nagro CJ, Otero DC, Anzelon AN, Omori SA, Kolla RV, Rickert RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15778510", "url": "https://glygen.org/publication/PubMed/15778510" } ] }, { "title": "Nectin-like protein 2 defines a subset of T-cell zone dendritic cells and is a ligand for class-I-restricted T-cell-associated molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Galibert L, Diemer GS, Liu Z, Johnson RS, Smith JL, Walzer T, Comeau MR, Rauch CT, Wolfson MF, Sorensen RA, Van der Vuurst de Vries AR, Branstetter DG, Koelling RM, Scholler J, Fanslow WC, Baum PR, Derry JM, Yan W", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15781451", "url": "https://glygen.org/publication/PubMed/15781451" } ] }, { "title": "Neutrophil migration across tight junctions is mediated by adhesive interactions between epithelial coxsackie and adenovirus receptor and a junctional adhesion molecule-like protein on neutrophils.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Zen K, Liu Y, McCall IC, Wu T, Lee W, Babbin BA, Nusrat A, Parkos CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15800062", "url": "https://glygen.org/publication/PubMed/15800062" } ] }, { "title": "Collagen fibril form and function.", "journal": "Advances in protein chemistry", "date": "2005", "authors": "Wess TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "15837520", "url": "https://glygen.org/publication/PubMed/15837520" } ] }, { "title": "Anti-alpha4 integrin therapy for multiple sclerosis: mechanisms and rationale.", "journal": "Neurology", "date": "2005", "authors": "Rice GP, Hartung HP, Calabresi PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15851719", "url": "https://glygen.org/publication/PubMed/15851719" } ] }, { "title": "Anatomy of CD1-lipid antigen complexes.", "journal": "Nature reviews. Immunology", "date": "2005", "authors": "Moody DB, Zajonc DM, Wilson IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15864273", "url": "https://glygen.org/publication/PubMed/15864273" } ] }, { "title": "VLA-4-fibronectin interaction is required for the terminal differentiation of human bone marrow cells capable of spontaneous and high rate immunoglobulin secretion.", "journal": "The Journal of experimental medicine", "date": "1992", "authors": "Roldan E, Garcia-Pardo A, Brieva JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "1588291", "url": "https://glygen.org/publication/PubMed/1588291" } ] }, { "title": "Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.", "journal": "Cancer research", "date": "2005", "authors": "Magnon C, Galaup A, Mullan B, Rouffiac V, Bouquet C, Bidart JM, Griscelli F, Opolon P, Perricaudet M", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15899827", "url": "https://glygen.org/publication/PubMed/15899827" } ] }, { "title": "Generation of biologically active endostatin fragments from human collagen XVIII by distinct matrix metalloproteases.", "journal": "Experimental cell research", "date": "2005", "authors": "Heljasvaara R, Nyberg P, Luostarinen J, Parikka M, Heikkila P, Rehn M, Sorsa T, Salo T, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "15950618", "url": "https://glygen.org/publication/PubMed/15950618" } ] }, { "title": "Critical role of the fifth domain of E-cadherin for heterophilic adhesion with alpha E beta 7, but not for homophilic adhesion.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Shiraishi K, Tsuzaka K, Yoshimoto K, Kumazawa C, Nozaki K, Abe T, Tsubota K, Takeuchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16002701", "url": "https://glygen.org/publication/PubMed/16002701" } ] }, { "title": "Siglecs--the major subfamily of I-type lectins.", "journal": "Glycobiology", "date": "2006", "authors": "Varki A, Angata T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16014749", "url": "https://glygen.org/publication/PubMed/16014749" } ] }, { "title": "Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chen FH, Thomas AO, Hecht JT, Goldring MB, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16051604", "url": "https://glygen.org/publication/PubMed/16051604" } ] }, { "title": "Heterotypic interaction of CRTAM with Necl2 induces cell adhesion on activated NK cells and CD8+ T cells.", "journal": "International immunology", "date": "2005", "authors": "Arase N, Takeuchi A, Unno M, Hirano S, Yokosuka T, Arase H, Saito T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16091383", "url": "https://glygen.org/publication/PubMed/16091383" } ] }, { "title": "HLA class I/NK cell receptor interaction in early human decidua basalis: possible functional consequences.", "journal": "Chemical immunology and allergy", "date": "2005", "authors": "Rabot M, Tabiasco J, Polgar B, Aguerre-Girr M, Berrebi A, Bensussan A, Strbo N, Rukavina D, Le Bouteiller P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16129954", "url": "https://glygen.org/publication/PubMed/16129954" } ] }, { "title": "Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Sudhakar A, Nyberg P, Keshamouni VG, Mannam AP, Li J, Sugimoto H, Cosgrove D, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16151532", "url": "https://glygen.org/publication/PubMed/16151532" } ] }, { "title": "MARCO is the major binding receptor for unopsonized particles and bacteria on human alveolar macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Arredouani MS, Palecanda A, Koziel H, Huang YC, Imrich A, Sulahian TH, Ning YY, Yang Z, Pikkarainen T, Sankala M, Vargas SO, Takeya M, Tryggvason K, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16237101", "url": "https://glygen.org/publication/PubMed/16237101" } ] }, { "title": "Integrin alphaDbeta2, an adhesion receptor up-regulated on macrophage foam cells, exhibits multiligand-binding properties.", "journal": "Blood", "date": "2006", "authors": "Yakubenko VP, Yadav SP, Ugarova TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16239428", "url": "https://glygen.org/publication/PubMed/16239428" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "Interactions between collagen IX and biglycan measured by atomic force microscopy.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Chen CH, Yeh ML, Geyer M, Wang GJ, Huang MH, Heggeness MH, Hook M, Luo ZP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16293224", "url": "https://glygen.org/publication/PubMed/16293224" } ] }, { "title": "Autocrine activation of PDGFRalpha promotes the progression of ovarian cancer.", "journal": "Oncogene", "date": "2006", "authors": "Matei D, Emerson RE, Lai YC, Baldridge LA, Rao J, Yiannoutsos C, Donner DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16331269", "url": "https://glygen.org/publication/PubMed/16331269" } ] }, { "title": "Cutting edge: lectin-like transcript-1 is a ligand for the inhibitory human NKR-P1A receptor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Rosen DB, Bettadapura J, Alsharifi M, Mathew PA, Warren HS, Lanier LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16339513", "url": "https://glygen.org/publication/PubMed/16339513" } ] }, { "title": "A study of CD33 (SIGLEC-3) antigen expression and function on activated human T and NK cells: two isoforms of CD33 are generated by alternative splicing.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Hernandez-Caselles T, Martinez-Esparza M, Perez-Oliva AB, Quintanilla-Cecconi AM, Garcia-Alonso A, Alvarez-Lopez DM, Garcia-Penarrubia P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16380601", "url": "https://glygen.org/publication/PubMed/16380601" } ] }, { "title": "PDGF-AA and PDGF-BB biosynthesis: proprotein processing in the Golgi complex and lysosomal degradation of PDGF-BB retained intracellularly.", "journal": "The Journal of cell biology", "date": "1992", "authors": "Ostman A, Thyberg J, Westermark B, Heldin CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "1639841", "url": "https://glygen.org/publication/PubMed/1639841" } ] }, { "title": "Potent inhibition of platelet-derived growth factor-induced responses in vascular smooth muscle cells by BMS-354825 (dasatinib).", "journal": "Molecular pharmacology", "date": "2006", "authors": "Chen Z, Lee FY, Bhalla KN, Wu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16436588", "url": "https://glygen.org/publication/PubMed/16436588" } ] }, { "title": "Preclinical and clinical development of the oral multikinase inhibitor sorafenib in cancer treatment.", "journal": "Drugs of today (Barcelona, Spain : 1998)", "date": "2005", "authors": "Strumberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "16474853", "url": "https://glygen.org/publication/PubMed/16474853" } ] }, { "title": "Involvement of tenascin-C and PG-M/versican in flexor tenosynovial pathology of idiopathic carpal tunnel syndrome.", "journal": "Histology and histopathology", "date": "2006", "authors": "Tsujii M, Hirata H, Yoshida T, Imanaka-Yoshida K, Morita A, Uchida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16493581", "url": "https://glygen.org/publication/PubMed/16493581" } ] }, { "title": "MARCO, an innate activation marker of macrophages, is a class A scavenger receptor for Neisseria meningitidis.", "journal": "European journal of immunology", "date": "2006", "authors": "Mukhopadhyay S, Chen Y, Sankala M, Peiser L, Pikkarainen T, Kraal G, Tryggvason K, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16525990", "url": "https://glygen.org/publication/PubMed/16525990" } ] }, { "title": "How TCRs bind MHCs, peptides, and coreceptors.", "journal": "Annual review of immunology", "date": "2006", "authors": "Rudolph MG, Stanfield RL, Wilson IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16551255", "url": "https://glygen.org/publication/PubMed/16551255" } ] }, { "title": "Enzymatic hydroxylation of proline and lysine in protocollagen.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1967", "authors": "Kivirikko KI, Prockop DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "16591531", "url": "https://glygen.org/publication/PubMed/16591531" } ] }, { "title": "G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1672129", "url": "https://glygen.org/publication/PubMed/1672129" } ] }, { "title": "Integrin alpha3beta1, a novel receptor for alpha3(IV) noncollagenous domain and a trans-dominant Inhibitor for integrin alphavbeta3.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Borza CM, Pozzi A, Borza DB, Pedchenko V, Hellmark T, Hudson BG, Zent R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16731529", "url": "https://glygen.org/publication/PubMed/16731529" } ] }, { "title": "Structural basis for recognition of MHC and MHC-like ligands by natural killer cell receptors.", "journal": "Seminars in immunology", "date": "2006", "authors": "Deng L, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16737824", "url": "https://glygen.org/publication/PubMed/16737824" } ] }, { "title": "Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Eble JA, Kassner A, Niland S, Morgelin M, Grifka J, Grassel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16754661", "url": "https://glygen.org/publication/PubMed/16754661" } ] }, { "title": "Collagens are functional, high affinity ligands for the inhibitory immune receptor LAIR-1.", "journal": "The Journal of experimental medicine", "date": "2006", "authors": "Lebbink RJ, de Ruiter T, Adelmeijer J, Brenkman AB, van Helvoort JM, Koch M, Farndale RW, Lisman T, Sonnenberg A, Lenting PJ, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16754721", "url": "https://glygen.org/publication/PubMed/16754721" } ] }, { "title": "Direct interaction of focal adhesion kinase (FAK) with Met is required for FAK to promote hepatocyte growth factor-induced cell invasion.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Chen SY, Chen HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "16782899", "url": "https://glygen.org/publication/PubMed/16782899" } ] }, { "title": "The discoidin domain receptor DDR2 is a receptor for type X collagen.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2006", "authors": "Leitinger B, Kwan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "16806867", "url": "https://glygen.org/publication/PubMed/16806867" } ] }, { "title": "TIMP independence of matrix metalloproteinase (MMP)-2 activation by membrane type 2 (MT2)-MMP is determined by contributions of both the MT2-MMP catalytic and hemopexin C domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Morrison CJ, Overall CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "16825197", "url": "https://glygen.org/publication/PubMed/16825197" } ] }, { "title": "Role of scavenger receptor MARCO in macrophage responses to CpG oligodeoxynucleotides.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Jozefowski S, Sulahian TH, Arredouani M, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16882874", "url": "https://glygen.org/publication/PubMed/16882874" } ] }, { "title": "CD40/CD40L dyad in the inflammatory and immune responses in the central nervous system.", "journal": "Cellular & molecular immunology", "date": "2006", "authors": "Chen K, Huang J, Gong W, Zhang L, Yu P, Wang JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16893496", "url": "https://glygen.org/publication/PubMed/16893496" } ] }, { "title": "The role of NK cell recognition of nectin and nectin-like proteins in tumor immunosurveillance.", "journal": "Seminars in cancer biology", "date": "2006", "authors": "Fuchs A, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16904340", "url": "https://glygen.org/publication/PubMed/16904340" } ] }, { "title": "Identification of Neisseria meningitidis nonlipopolysaccharide ligands for class A macrophage scavenger receptor by using a novel assay.", "journal": "Infection and immunity", "date": "2006", "authors": "Peiser L, Makepeace K, Pluddemann A, Savino S, Wright JC, Pizza M, Rappuoli R, Moxon ER, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16926412", "url": "https://glygen.org/publication/PubMed/16926412" } ] }, { "title": "Is the CD200/CD200 receptor interaction more than just a myeloid cell inhibitory signal?", "journal": "Critical reviews in immunology", "date": "2006", "authors": "Minas K, Liversidge J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16928187", "url": "https://glygen.org/publication/PubMed/16928187" } ] }, { "title": "The synergy site of fibronectin is required for strong interaction with the platelet integrin alphaIIbbeta3.", "journal": "Annals of biomedical engineering", "date": "2006", "authors": "Chada D, Mather T, Nollert MU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16933105", "url": "https://glygen.org/publication/PubMed/16933105" } ] }, { "title": "Laminin alpha1 chain LG4 module promotes cell attachment through syndecans and cell spreading through integrin alpha2beta1.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hozumi K, Suzuki N, Nielsen PK, Nomizu M, Yamada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "16945929", "url": "https://glygen.org/publication/PubMed/16945929" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "MARCO mediates silica uptake and toxicity in alveolar macrophages from C57BL/6 mice.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hamilton RF Jr, Thakur SA, Mayfair JK, Holian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "16984918", "url": "https://glygen.org/publication/PubMed/16984918" } ] }, { "title": "Increased gene expression of matrix metalloproteinase-3 (stromelysin) in skin fibroblasts from patients with severe recessive dystrophic epidermolysis bullosa.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Sawamura D, Sugawara T, Hashimoto I, Bruckner-Tuderman L, Fujimoto D, Okada Y, Utsumi N, Shikata H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "1704217", "url": "https://glygen.org/publication/PubMed/1704217" } ] }, { "title": "NTB-A receptor crystal structure: insights into homophilic interactions in the signaling lymphocytic activation molecule receptor family.", "journal": "Immunity", "date": "2006", "authors": "Cao E, Ramagopal UA, Fedorov A, Fedorov E, Yan Q, Lary JW, Cole JL, Nathenson SG, Almo SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17045824", "url": "https://glygen.org/publication/PubMed/17045824" } ] }, { "title": "Mutual activation of natural killer cells and monocytes mediated by NKp80-AICL interaction.", "journal": "Nature immunology", "date": "2006", "authors": "Welte S, Kuttruff S, Waldhauer I, Steinle A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17057721", "url": "https://glygen.org/publication/PubMed/17057721" } ] }, { "title": "Enzymatic processing of collagen IV by MMP-2 (gelatinase A) affects neutrophil migration and it is modulated by extracatalytic domains.", "journal": "Protein science : a publication of the Protein Society", "date": "2006", "authors": "Monaco S, Sparano V, Gioia M, Sbardella D, Di Pierro D, Marini S, Coletta M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "17088321", "url": "https://glygen.org/publication/PubMed/17088321" } ] }, { "title": "Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1975", "authors": "Byers PH, Click EM, Harper E, Bornstein P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216" } ], "reference": [ { "type": "PubMed", "id": "171650", "url": "https://glygen.org/publication/PubMed/171650" } ] }, { "title": "Identification and characterization of a novel human collectin CL-K1.", "journal": "Microbiology and immunology", "date": "2006", "authors": "Keshi H, Sakamoto T, Kawai T, Ohtani K, Katoh T, Jang SJ, Motomura W, Yoshizaki T, Fukuda M, Koyama S, Fukuzawa J, Fukuoh A, Yoshida I, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17179669", "url": "https://glygen.org/publication/PubMed/17179669" } ] }, { "title": "A soluble form of the MHC class I-specific CD160 receptor is released from human activated NK lymphocytes and inhibits cell-mediated cytotoxicity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Giustiniani J, Marie-Cardine A, Bensussan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17237375", "url": "https://glygen.org/publication/PubMed/17237375" } ] }, { "title": "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Molina H, Horn DM, Tang N, Mathivanan S, Pandey A", "evidence": [ { "database": "iPTMnet", "id": "P02461-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02461-1" } ], "reference": [ { "type": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" } ] }, { "title": "The short arm of laminin gamma2 chain of laminin-5 (laminin-332) binds syndecan-1 and regulates cellular adhesion and migration by suppressing phosphorylation of integrin beta4 chain.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Ogawa T, Tsubota Y, Hashimoto J, Kariya Y, Miyazaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "17314405", "url": "https://glygen.org/publication/PubMed/17314405" } ] }, { "title": "Protection against inhaled oxidants through scavenging of oxidized lipids by macrophage receptors MARCO and SR-AI/II.", "journal": "The Journal of clinical investigation", "date": "2007", "authors": "Dahl M, Bauer AK, Arredouani M, Soininen R, Tryggvason K, Kleeberger SR, Kobzik L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17332894", "url": "https://glygen.org/publication/PubMed/17332894" } ] }, { "title": "Complement-mediated activation of the adaptive immune responses: role of C3d in linking the innate and adaptive immunity.", "journal": "Immunologic research", "date": "2006", "authors": "Toapanta FR, Ross TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17337780", "url": "https://glygen.org/publication/PubMed/17337780" } ] }, { "title": "Critical residues of alphaX I-domain recognizing fibrinogen central domain.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Lee JH, Choi J, Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17339034", "url": "https://glygen.org/publication/PubMed/17339034" } ] }, { "title": "Sunitinib: a VEGF and PDGF receptor protein kinase and angiogenesis inhibitor.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17367763", "url": "https://glygen.org/publication/PubMed/17367763" } ] }, { "title": "Structural basis for the autoinhibition of focal adhesion kinase.", "journal": "Cell", "date": "2007", "authors": "Lietha D, Cai X, Ceccarelli DF, Li Y, Schaller MD, Eck MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "17574028", "url": "https://glygen.org/publication/PubMed/17574028" } ] }, { "title": "Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "17588949", "url": "https://glygen.org/publication/PubMed/17588949" } ] }, { "title": "Platelet-derived growth factor receptor-alpha: a novel therapeutic target in human hepatocellular cancer.", "journal": "Molecular cancer therapeutics", "date": "2007", "authors": "Stock P, Monga D, Tan X, Micsenyi A, Loizos N, Monga SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17604334", "url": "https://glygen.org/publication/PubMed/17604334" } ] }, { "title": "Scavenger receptor class-A is a novel cell surface receptor for double-stranded RNA.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2008", "authors": "Limmon GV, Arredouani M, McCann KL, Corn Minor RA, Kobzik L, Imani F", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "17709607", "url": "https://glygen.org/publication/PubMed/17709607" } ] }, { "title": "E7080, a novel inhibitor that targets multiple kinases, has potent antitumor activities against stem cell factor producing human small cell lung cancer H146, based on angiogenesis inhibition.", "journal": "International journal of cancer", "date": "2008", "authors": "Matsui J, Yamamoto Y, Funahashi Y, Tsuruoka A, Watanabe T, Wakabayashi T, Uenaka T, Asada M", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "17943726", "url": "https://glygen.org/publication/PubMed/17943726" } ] }, { "title": "Involvement of alpha(v)beta3 integrins in osteoclast function.", "journal": "Journal of bone and mineral metabolism", "date": "2007", "authors": "Nakamura I, Duong LT, Rodan SB, Rodan GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17968485", "url": "https://glygen.org/publication/PubMed/17968485" } ] }, { "title": "Homotypic interactions mediated by Slamf1 and Slamf6 receptors control NKT cell lineage development.", "journal": "Immunity", "date": "2007", "authors": "Griewank K, Borowski C, Rietdijk S, Wang N, Julien A, Wei DG, Mamchak AA, Terhorst C, Bendelac A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18031695", "url": "https://glygen.org/publication/PubMed/18031695" } ] }, { "title": "CD1 antigen presentation: how it works.", "journal": "Nature reviews. Immunology", "date": "2007", "authors": "Barral DC, Brenner MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18037897", "url": "https://glygen.org/publication/PubMed/18037897" } ] }, { "title": "Human leukocyte antigen-B-associated transcript 3 is released from tumor cells and engages the NKp30 receptor on natural killer cells.", "journal": "Immunity", "date": "2007", "authors": "Pogge von Strandmann E, Simhadri VR, von Tresckow B, Sasse S, Reiners KS, Hansen HP, Rothe A, Boll B, Simhadri VL, Borchmann P, McKinnon PJ, Hallek M, Engert A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18055229", "url": "https://glygen.org/publication/PubMed/18055229" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "The soluble leukocyte-associated Ig-like receptor (LAIR)-2 antagonizes the collagen/LAIR-1 inhibitory immune interaction.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Lebbink RJ, van den Berg MC, de Ruiter T, Raynal N, van Roon JA, Lenting PJ, Jin B, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18209062", "url": "https://glygen.org/publication/PubMed/18209062" } ] }, { "title": "Biophysical characterization of O-glycosylated CD99 recognition by paired Ig-like type 2 receptors.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tabata S, Kuroki K, Wang J, Kajikawa M, Shiratori I, Kohda D, Arase H, Maenaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18234675", "url": "https://glygen.org/publication/PubMed/18234675" } ] }, { "title": "Natural variation in four human collagen genes across an ethnically diverse population.", "journal": "Genomics", "date": "2008", "authors": "Chan Ting-Fung, Poon Annie, Basu Analabha, Addleman Nick R, Chen Justin, Phong Angie, Byers Peter H, Klein Teri E, Kwok Pui-Yan", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "18272325", "url": "https://glygen.org/publication/PubMed/18272325" } ] }, { "title": "Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tiainen P, Pasanen A, Sormunen R, Myllyharju J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "18487197", "url": "https://glygen.org/publication/PubMed/18487197" } ] }, { "title": "Recognition and plasma clearance of endotoxin by scavenger receptors.", "journal": "Nature", "date": "1991", "authors": "Hampton RY, Golenbock DT, Penman M, Krieger M, Raetz CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "1852209", "url": "https://glygen.org/publication/PubMed/1852209" } ] }, { "title": "BIBF 1120: triple angiokinase inhibitor with sustained receptor blockade and good antitumor efficacy.", "journal": "Cancer research", "date": "2008", "authors": "Hilberg F, Roth GJ, Krssak M, Kautschitsch S, Sommergruber W, Tontsch-Grunt U, Garin-Chesa P, Bader G, Zoephel A, Quant J, Heckel A, Rettig WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "18559524", "url": "https://glygen.org/publication/PubMed/18559524" } ] }, { "title": "Structural and functional aspects of lipid binding by CD1 molecules.", "journal": "Annual review of cell and developmental biology", "date": "2008", "authors": "Silk JD, Salio M, Brown J, Jones EY, Cerundolo V", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18593354", "url": "https://glygen.org/publication/PubMed/18593354" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Matrix metalloproteinase-11/stromelysin-3 exhibits collagenolytic function against collagen VI under normal and malignant conditions.", "journal": "Oncogene", "date": "2008", "authors": "Motrescu ER, Blaise S, Etique N, Messaddeq N, Chenard MP, Stoll I, Tomasetto C, Rio MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "18622425", "url": "https://glygen.org/publication/PubMed/18622425" } ] }, { "title": "Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries.", "journal": "J. Biol. Chem.", "date": "2008", "authors": "Boudko Sergei P, Engel J\u00fcrgen, Okuyama Kenji, Mizuno Kazunori, B\u00e4chinger Hans Peter, Schumacher Maria A", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "18805790", "url": "https://glygen.org/publication/PubMed/18805790" } ] }, { "title": "Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.", "journal": "Journal of medical genetics", "date": "1991", "authors": "Richards AJ, Lloyd JC, Ward PN, De Paepe A, Narcisi P, Pope FM", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "1895316", "url": "https://glygen.org/publication/PubMed/1895316" } ] }, { "title": "Scavenger receptor collectin placenta 1 (CL-P1) predominantly mediates zymosan phagocytosis by human vascular endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Jang S, Ohtani K, Fukuoh A, Yoshizaki T, Fukuda M, Motomura W, Mori K, Fukuzawa J, Kitamoto N, Yoshida I, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19073604", "url": "https://glygen.org/publication/PubMed/19073604" } ] }, { "title": "Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Schegg B, Hulsmeier AJ, Rutschmann C, Maag C, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "19075007", "url": "https://glygen.org/publication/PubMed/19075007" } ] }, { "title": "Triggering Receptor Expressed on Myeloid Cells (TREM) family and the application of its antagonists.", "journal": "Recent patents on anti-infective drug discovery", "date": "2009", "authors": "Molloy EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19149696", "url": "https://glygen.org/publication/PubMed/19149696" } ] }, { "title": "Scavenger receptor A: a new route for adenovirus 5.", "journal": "Molecular pharmaceutics", "date": "2009", "authors": "Haisma HJ, Boesjes M, Beerens AM, van der Strate BW, Curiel DT, Pluddemann A, Gordon S, Bellu AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19227971", "url": "https://glygen.org/publication/PubMed/19227971" } ] }, { "title": "The CD300 family of molecules are evolutionarily significant regulators of leukocyte functions.", "journal": "Trends in immunology", "date": "2009", "authors": "Clark GJ, Ju X, Tate C, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19359216", "url": "https://glygen.org/publication/PubMed/19359216" } ] }, { "title": "Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.", "journal": "Eur. J. Hum. Genet.", "date": "2009", "authors": "Plancke Aur\u00e9lie, Holder-Espinasse Muriel, Rigau Val\u00e9rie, Manouvrier Sylvie, Claustres Mireille, Khau Van Kien Philippe", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "19455184", "url": "https://glygen.org/publication/PubMed/19455184" } ] }, { "title": "Molecular interplay between endostatin, integrins, and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Faye C, Moreau C, Chautard E, Jetne R, Fukai N, Ruggiero F, Humphries MJ, Olsen BR, Ricard-Blum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "19502598", "url": "https://glygen.org/publication/PubMed/19502598" } ] }, { "title": "Response to a novel multitargeted tyrosine kinase inhibitor pazopanib in metastatic Merkel cell carcinoma.", "journal": "Journal of clinical oncology : official journal of the American Society of Clinical Oncology", "date": "2009", "authors": "Davids MS, Charlton A, Ng SS, Chong ML, Laubscher K, Dar M, Hodge J, Soong R, Goh BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "19564526", "url": "https://glygen.org/publication/PubMed/19564526" } ] }, { "title": "The CD300 molecules regulate monocyte and dendritic cell functions.", "journal": "Immunobiology", "date": "2009", "authors": "Clark GJ, Ju X, Azlan M, Tate C, Ding Y, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19592130", "url": "https://glygen.org/publication/PubMed/19592130" } ] }, { "title": "Collagens.", "journal": "Cell and tissue research", "date": "2010", "authors": "Gordon MK, Hahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "19693541", "url": "https://glygen.org/publication/PubMed/19693541" } ] }, { "title": "Macrophage scavenger receptor A mediates adhesion to apolipoproteins A-I and E.", "journal": "Biochemistry", "date": "2009", "authors": "Neyen C, Pluddemann A, Roversi P, Thomas B, Cai L, van der Westhuyzen DR, Sim RB, Gordon S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "19911804", "url": "https://glygen.org/publication/PubMed/19911804" } ] }, { "title": "Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.", "journal": "Molecular and cellular biochemistry", "date": "2010", "authors": "Rock MJ, Holden P, Horton WA, Cohn DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20033473", "url": "https://glygen.org/publication/PubMed/20033473" } ] }, { "title": "Sites of stromelysin cleavage in collagen types II, IX, X, and XI of cartilage.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Wu JJ, Lark MW, Chun LE, Eyre DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2005102", "url": "https://glygen.org/publication/PubMed/2005102" } ] }, { "title": "Thrombospondin-induced adhesion of human platelets.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Tuszynski GP, Kowalska MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "2010551", "url": "https://glygen.org/publication/PubMed/2010551" } ] }, { "title": "An accessory to the 'Trinity': SR-As are essential pathogen sensors of extracellular dsRNA, mediating entry and leading to subsequent type I IFN responses.", "journal": "PLoS pathogens", "date": "2010", "authors": "DeWitte-Orr SJ, Collins SE, Bauer CM, Bowdish DM, Mossman KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20360967", "url": "https://glygen.org/publication/PubMed/20360967" } ] }, { "title": "The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.", "journal": "BMC cell biology", "date": "2010", "authors": "Liefhebber JM, Punt S, Spaan WJ, van Leeuwen HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "20470363", "url": "https://glygen.org/publication/PubMed/20470363" } ] }, { "title": "Decorin interacts with fibrillar collagen of embryonic and adult human skin.", "journal": "Journal of structural biology", "date": "1991", "authors": "Fleischmajer R, Fisher LW, MacDonald ED, Jacobs L Jr, Perlish JS, Termine JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2059554", "url": "https://glygen.org/publication/PubMed/2059554" } ] }, { "title": "Lumican inhibits cell migration through alpha2beta1 integrin.", "journal": "Experimental cell research", "date": "2010", "authors": "Zeltz C, Brezillon S, Kapyla J, Eble JA, Bobichon H, Terryn C, Perreau C, Franz CM, Heino J, Maquart FX, Wegrowski Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20705068", "url": "https://glygen.org/publication/PubMed/20705068" } ] }, { "title": "Efficient inhibition of collagen-induced platelet activation and adhesion by LAIR-2, a soluble Ig-like receptor family member.", "journal": "PloS one", "date": "2010", "authors": "Lenting PJ, Westerlaken GH, Denis CV, Akkerman JW, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "20730098", "url": "https://glygen.org/publication/PubMed/20730098" } ] }, { "title": "Phosphorylation of focal adhesion kinase on tyrosine 194 by Met leads to its activation through relief of autoinhibition.", "journal": "Oncogene", "date": "2011", "authors": "Chen TH, Chan PC, Chen CL, Chen HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "20802513", "url": "https://glygen.org/publication/PubMed/20802513" } ] }, { "title": "The class A scavenger receptor, macrophage receptor with collagenous structure, is the major phagocytic receptor for Clostridium sordellii expressed by human decidual macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Thelen T, Hao Y, Medeiros AI, Curtis JL, Serezani CH, Kobzik L, Harris LH, Aronoff DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20810988", "url": "https://glygen.org/publication/PubMed/20810988" } ] }, { "title": "Targeting the {alpha} receptor for platelet-derived growth factor as a primary or combination therapy in a preclinical model of prostate cancer skeletal metastasis.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2010", "authors": "Russell MR, Liu Q, Fatatis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "20813817", "url": "https://glygen.org/publication/PubMed/20813817" } ] }, { "title": "Cellular recognition and trafficking of amorphous silica nanoparticles by macrophage scavenger receptor A.", "journal": "Nanotoxicology", "date": "2011", "authors": "Orr GA, Chrisler WB, Cassens KJ, Tan R, Tarasevich BJ, Markillie LM, Zangar RC, Thrall BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20849212", "url": "https://glygen.org/publication/PubMed/20849212" } ] }, { "title": "Phagocytosis of fungal agents and yeast via macrophage cell surface scavenger receptors.", "journal": "The Journal of surgical research", "date": "2010", "authors": "Wang R, Chandawarkar RY", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20888598", "url": "https://glygen.org/publication/PubMed/20888598" } ] }, { "title": "Collectin 11 (CL-11, CL-K1) is a MASP-1/3-associated plasma collectin with microbial-binding activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Hansen S, Selman L, Palaniyar N, Ziegler K, Brandt J, Kliem A, Jonasson M, Skjoedt MO, Nielsen O, Hartshorn K, Jorgensen TJ, Skjodt K, Holmskov U", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "20956340", "url": "https://glygen.org/publication/PubMed/20956340" } ] }, { "title": "PANP is a novel O-glycosylated PILRalpha ligand expressed in neural tissues.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Kogure A, Shiratori I, Wang J, Lanier LL, Arase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21241660", "url": "https://glygen.org/publication/PubMed/21241660" } ] }, { "title": "Inhibition of PDGF, TGF-beta, and Abl signaling and reduction of liver fibrosis by the small molecule Bcr-Abl tyrosine kinase antagonist Nilotinib.", "journal": "Journal of hepatology", "date": "2011", "authors": "Liu Y, Wang Z, Kwong SQ, Lui ELH, Friedman SL, Li FR, Lam RWC, Zhang GC, Zhang H, Ye T", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "21251937", "url": "https://glygen.org/publication/PubMed/21251937" } ] }, { "title": "Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase.", "journal": "Cell", "date": "2011", "authors": "Sun T, Aceto N, Meerbrey KL, Kessler JD, Zhou C, Migliaccio I, Nguyen DX, Pavlova NN, Botero M, Huang J, Bernardi RJ, Schmitt E, Hu G, Li MZ, Dephoure N, Gygi SP, Rao M, Creighton CJ, Hilsenbeck SG, Shaw CA, Muzny D, Gibbs RA, Wheeler DA, Osborne CK, Schiff R, Bentires-Alj M, Elledge SJ, Westbrook TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "21376233", "url": "https://glygen.org/publication/PubMed/21376233" } ] }, { "title": "A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Cole W G, Chiodo A A, Lamande S R, Janeczko R, Ramirez F, Dahl H H, Chan D, Bateman J F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2145268", "url": "https://glygen.org/publication/PubMed/2145268" } ] }, { "title": "Extracellular matrix composition and remodeling in human abdominal aortic aneurysms: a proteomics approach.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Didangelos A, Yin X, Mandal K, Saje A, Smith A, Xu Q, Jahangiri M, Mayr M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "21593211", "url": "https://glygen.org/publication/PubMed/21593211" } ] }, { "title": "Dentin matrix protein 1 (DMP1) signals via cell surface integrin.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu H, Teng PN, Jayaraman T, Onishi S, Li J, Bannon L, Huang H, Close J, Sfeir C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21642437", "url": "https://glygen.org/publication/PubMed/21642437" } ] }, { "title": "Tumor promoter-stimulated Mr 92,000 gelatinase secreted by normal and malignant human cells: isolation and characterization of the enzyme from HT1080 tumor cells.", "journal": "Cancer research", "date": "1990", "authors": "Moll UM, Youngleib GL, Rosinski KB, Quigley JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2169335", "url": "https://glygen.org/publication/PubMed/2169335" } ] }, { "title": "Effect of overexpression of human SR-AI on oxLDL uptake and apoptosis in 293T cells.", "journal": "International immunopharmacology", "date": "2011", "authors": "Yang H, Chen SC, Tang YQ, Dai YL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "21782039", "url": "https://glygen.org/publication/PubMed/21782039" } ] }, { "title": "Collagen I and III and their decorin modified surfaces studied by atomic force microscopy and the elucidation of their affinity toward positive apolipoprotein B-100 residue by quartz crystal microbalance.", "journal": "The Analyst", "date": "2011", "authors": "Witos J, Saint-Guirons J, Meinander K, D'Ulivo L, Riekkola ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21789315", "url": "https://glygen.org/publication/PubMed/21789315" } ] }, { "title": "Specific lipid recognition is a general feature of CD300 and TREM molecules.", "journal": "Immunogenetics", "date": "2012", "authors": "Cannon JP, O'Driscoll M, Litman GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21800138", "url": "https://glygen.org/publication/PubMed/21800138" } ] }, { "title": "OSCAR is a collagen receptor that costimulates osteoclastogenesis in DAP12-deficient humans and mice.", "journal": "The Journal of clinical investigation", "date": "2011", "authors": "Barrow AD, Raynal N, Andersen TL, Slatter DA, Bihan D, Pugh N, Cella M, Kim T, Rho J, Negishi-Koga T, Delaisse JM, Takayanagi H, Lorenzo J, Colonna M, Farndale RW, Choi Y, Trowsdale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21841309", "url": "https://glygen.org/publication/PubMed/21841309" } ] }, { "title": "B7-H6/NKp30 interaction: a mechanism of alerting NK cells against tumors.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2011", "authors": "Kaifu T, Escaliere B, Gastinel LN, Vivier E, Baratin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21877119", "url": "https://glygen.org/publication/PubMed/21877119" } ] }, { "title": "Protein export at the ER: loading big collagens into COPII carriers.", "journal": "The EMBO journal", "date": "2011", "authors": "Malhotra V, Erlmann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "21878990", "url": "https://glygen.org/publication/PubMed/21878990" } ] }, { "title": "MMP mediated degradation of type VI collagen is highly associated with liver fibrosis--identification and validation of a novel biochemical marker assay.", "journal": "PloS one", "date": "2011", "authors": "Veidal SS, Karsdal MA, Vassiliadis E, Nawrocki A, Larsen MR, Nguyen QH, Hagglund P, Luo Y, Zheng Q, Vainer B, Leeming DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "21935455", "url": "https://glygen.org/publication/PubMed/21935455" } ] }, { "title": "Stepwise proteolytic activation of type I procollagen to collagen within the secretory pathway of tendon fibroblasts in situ.", "journal": "The Biochemical journal", "date": "2012", "authors": "Canty-Laird EG, Lu Y, Kadler KE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "21967573", "url": "https://glygen.org/publication/PubMed/21967573" } ] }, { "title": "Dentin phosphoprotein (DPP) activates integrin-mediated anchorage-dependent signals in undifferentiated mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Eapen A, Ramachandran A, George A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "22134916", "url": "https://glygen.org/publication/PubMed/22134916" } ] }, { "title": "Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "22241472", "url": "https://glygen.org/publication/PubMed/22241472" } ] }, { "title": "G to A polymorphism in exon 31 of the COL3A1 gene.", "journal": "Nucleic Acids Res.", "date": "1990", "authors": "Zafarullah K, Kleinert C, Tromp G, Kuivaniemi H, Kontusaari S, Wu Y L, Ganguly A, Prockop D J", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2235526", "url": "https://glygen.org/publication/PubMed/2235526" } ] }, { "title": "MMP mediated type V collagen degradation (C5M) is elevated in ankylosing spondylitis.", "journal": "Clinical biochemistry", "date": "2012", "authors": "Veidal SS, Larsen DV, Chen X, Sun S, Zheng Q, Bay-Jensen AC, Leeming DJ, Nawrocki A, Larsen MR, Schett G, Karsdal MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "22382088", "url": "https://glygen.org/publication/PubMed/22382088" } ] }, { "title": "Evolutionarily conserved paired immunoglobulin-like receptor alpha (PILRalpha) domain mediates its interaction with diverse sialylated ligands.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Sun Y, Senger K, Baginski TK, Mazloom A, Chinn Y, Pantua H, Hamidzadeh K, Ramani SR, Luis E, Tom I, Sebrell A, Quinones G, Ma Y, Mukhyala K, Sai T, Ding J, Haley B, Shadnia H, Kapadia SB, Gonzalez LC, Hass PE, Zarrin AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "22396535", "url": "https://glygen.org/publication/PubMed/22396535" } ] }, { "title": "A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2243125", "url": "https://glygen.org/publication/PubMed/2243125" } ] }, { "title": "Human macrophage scavenger receptors: primary structure, expression, and localization in atherosclerotic lesions.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Matsumoto A, Naito M, Itakura H, Ikemoto S, Asaoka H, Hayakawa I, Kanamori H, Aburatani H, Takaku F, Suzuki H, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "2251254", "url": "https://glygen.org/publication/PubMed/2251254" } ] }, { "title": "Purification and characterization of extracellular matrix-degrading metalloproteinase, matrin (pump-1), secreted from human rectal carcinoma cell line.", "journal": "Cancer research", "date": "1990", "authors": "Miyazaki K, Hattori Y, Umenishi F, Yasumitsu H, Umeda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2253219", "url": "https://glygen.org/publication/PubMed/2253219" } ] }, { "title": "Tetrastatin, the NC1 domain of the alpha4(IV) collagen chain: a novel potent anti-tumor matrikine.", "journal": "PloS one", "date": "2012", "authors": "Brassart-Pasco S, Senechal K, Thevenard J, Ramont L, Devy J, Di Stefano L, Dupont-Deshorgue A, Brezillon S, Feru J, Jazeron JF, Diebold MD, Ricard-Blum S, Maquart FX, Monboisse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22539938", "url": "https://glygen.org/publication/PubMed/22539938" } ] }, { "title": "Biological functions of the novel collectins CL-L1, CL-K1, and CL-P1.", "journal": "Journal of biomedicine & biotechnology", "date": "2012", "authors": "Ohtani K, Suzuki Y, Wakamiya N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "22570530", "url": "https://glygen.org/publication/PubMed/22570530" } ] }, { "title": "Target-derived matricryptins organize cerebellar synapse formation through alpha3beta1 integrins.", "journal": "Cell reports", "date": "2012", "authors": "Su J, Stenbjorn RS, Gorse K, Su K, Hauser KF, Ricard-Blum S, Pihlajaniemi T, Fox MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22884367", "url": "https://glygen.org/publication/PubMed/22884367" } ] }, { "title": "Resveratrol-induced changes of the human adipocyte secretion profile.", "journal": "J. Proteome Res.", "date": "2012", "authors": "Rosenow Anja, Noben Jean-Paul, Jocken Johan, Kallendrusch Sonja, Fischer-Posovszky Pamela, Mariman Edwin C M, Renes Johan", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "22905912", "url": "https://glygen.org/publication/PubMed/22905912" } ] }, { "title": "Stromal platelet-derived growth factor receptor alpha (PDGFRalpha) provides a therapeutic target independent of tumor cell PDGFRalpha expression in lung cancer xenografts.", "journal": "Molecular cancer therapeutics", "date": "2012", "authors": "Gerber DE, Gupta P, Dellinger MT, Toombs JE, Peyton M, Duignan I, Malaby J, Bailey T, Burns C, Brekken RA, Loizos N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "22933705", "url": "https://glygen.org/publication/PubMed/22933705" } ] }, { "title": "Structural basis of fibrillar collagen trimerization and related genetic disorders.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Bourhis JM, Mariano N, Zhao Y, Harlos K, Exposito JY, Jones EY, Moali C, Aghajari N, Hulmes DJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "23001006", "url": "https://glygen.org/publication/PubMed/23001006" } ] }, { "title": "Immunoelectron microscopy of type X collagen: supramolecular forms within embryonic chick cartilage.", "journal": "Developmental biology", "date": "1990", "authors": "Schmid TM, Linsenmayer TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "2307289", "url": "https://glygen.org/publication/PubMed/2307289" } ] }, { "title": "Scavenger receptor-mediated uptake and metabolism of lipid vesicles containing acidic phospholipids by mouse peritoneal macrophages.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Nishikawa K, Arai H, Inoue K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "2318890", "url": "https://glygen.org/publication/PubMed/2318890" } ] }, { "title": "MARCO is required for TLR2- and Nod2-mediated responses to Streptococcus pneumoniae and clearance of pneumococcal colonization in the murine nasopharynx.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2013", "authors": "Dorrington MG, Roche AM, Chauvin SE, Tu Z, Mossman KL, Weiser JN, Bowdish DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "23197261", "url": "https://glygen.org/publication/PubMed/23197261" } ] }, { "title": "Endorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cells.", "journal": "The FEBS journal", "date": "2013", "authors": "Willis CD, Poluzzi C, Mongiat M, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "23374253", "url": "https://glygen.org/publication/PubMed/23374253" } ] }, { "title": "Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.", "journal": "Am. J. Hum. Genet.", "date": "1990", "authors": "Kontusaari S, Tromp G, Kuivaniemi H, Ladda R L, Prockop D J", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2349939", "url": "https://glygen.org/publication/PubMed/2349939" } ] }, { "title": "Pazopanib inhibits the activation of PDGFRbeta-expressing astrocytes in the brain metastatic microenvironment of breast cancer cells.", "journal": "The American journal of pathology", "date": "2013", "authors": "Gril B, Palmieri D, Qian Y, Anwar T, Liewehr DJ, Steinberg SM, Andreu Z, Masana D, Fernandez P, Steeg PS, Vidal-Vanaclocha F", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "23583652", "url": "https://glygen.org/publication/PubMed/23583652" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P02461", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Immunoelectron microscopy of osteonectin and type I collagen in osteoblasts and bone matrix.", "journal": "Calcified tissue international", "date": "1990", "authors": "Romanowski R, Jundt G, Termine JD, von der Mark K, Schulz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2364322", "url": "https://glygen.org/publication/PubMed/2364322" } ] }, { "title": "CS1 (SLAMF7) inhibits production of proinflammatory cytokines by activated monocytes.", "journal": "Inflammation research : official journal of the European Histamine Research Society ... [et al.]", "date": "2013", "authors": "Kim JR, Horton NC, Mathew SO, Mathew PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "23695528", "url": "https://glygen.org/publication/PubMed/23695528" } ] }, { "title": "Genetically coupled receptor-ligand pair NKp80-AICL enables autonomous control of human NK cell responses.", "journal": "Blood", "date": "2013", "authors": "Klimosch SN, Bartel Y, Wiemann S, Steinle A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "23929856", "url": "https://glygen.org/publication/PubMed/23929856" } ] }, { "title": "A 125/115-kDa cell surface receptor specific for vitronectin interacts with the arginine-glycine-aspartic acid adhesion sequence derived from fibronectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Pytela R, Pierschbacher MD, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2412224", "url": "https://glygen.org/publication/PubMed/2412224" } ] }, { "title": "Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Pytela R, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2420006", "url": "https://glygen.org/publication/PubMed/2420006" } ] }, { "title": "BAG-6, a jack of all trades in health and disease.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2014", "authors": "Binici J, Koch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "24305946", "url": "https://glygen.org/publication/PubMed/24305946" } ] }, { "title": "Interaction of vitronectin with collagen.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Gebb C, Hayman EG, Engvall E, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2430969", "url": "https://glygen.org/publication/PubMed/2430969" } ] }, { "title": "FAK dimerization controls its kinase-dependent functions at focal adhesions.", "journal": "The EMBO journal", "date": "2014", "authors": "Brami-Cherrier K, Gervasi N, Arsenieva D, Walkiewicz K, Boutterin MC, Ortega A, Leonard PG, Seantier B, Gasmi L, Bouceba T, Kadare G, Girault JA, Arold ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "24480479", "url": "https://glygen.org/publication/PubMed/24480479" } ] }, { "title": "A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Tromp G, Kuivaniemi H, Shikata H, Prockop DJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2492273", "url": "https://glygen.org/publication/PubMed/2492273" } ] }, { "title": "Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.", "journal": "European journal of human genetics : EJHG", "date": "2015", "authors": "Jorgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, Leistritz DF, Byers PH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "25205403", "url": "https://glygen.org/publication/PubMed/25205403" } ] }, { "title": "Crenolanib, a PDGFR inhibitor, suppresses lung cancer cell proliferation and inhibits tumor growth in vivo.", "journal": "OncoTargets and therapy", "date": "2014", "authors": "Wang P, Song L, Ge H, Jin P, Jiang Y, Hu W, Geng N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "25328409", "url": "https://glygen.org/publication/PubMed/25328409" } ] }, { "title": "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Seltzer JL, Eisen AZ, Bauer EA, Morris NP, Glanville RW, Burgeson RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2537292", "url": "https://glygen.org/publication/PubMed/2537292" } ] }, { "title": "Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Helaakoski T, Vuori K, Myllyla R, Kivirikko KI, Pihlajaniemi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "2543975", "url": "https://glygen.org/publication/PubMed/2543975" } ] }, { "title": "Human and rat malignant-tumor-associated mRNAs encode stromelysin-like metalloproteinases.", "journal": "Biochemistry", "date": "1989", "authors": "Nicholson R, Murphy G, Breathnach R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2548603", "url": "https://glygen.org/publication/PubMed/2548603" } ] }, { "title": "SV40-transformed human lung fibroblasts secrete a 92-kDa type IV collagenase which is identical to that secreted by normal human macrophages.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Wilhelm SM, Collier IE, Marmer BL, Eisen AZ, Grant GA, Goldberg GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2551898", "url": "https://glygen.org/publication/PubMed/2551898" } ] }, { "title": "The FLT3 and PDGFR inhibitor crenolanib is a substrate of the multidrug resistance protein ABCB1 but does not inhibit transport function at pharmacologically relevant concentrations.", "journal": "Investigational new drugs", "date": "2015", "authors": "Mathias TJ, Natarajan K, Shukla S, Doshi KA, Singh ZN, Ambudkar SV, Baer MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "25597754", "url": "https://glygen.org/publication/PubMed/25597754" } ] }, { "title": "CD1 and mycobacterial lipids activate human T cells.", "journal": "Immunological reviews", "date": "2015", "authors": "Van Rhijn I, Moody DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "25703557", "url": "https://glygen.org/publication/PubMed/25703557" } ] }, { "title": "OSCAR is a receptor for surfactant protein D that activates TNF-alpha release from human CCR2+ inflammatory monocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015", "authors": "Barrow AD, Palarasah Y, Bugatti M, Holehouse AS, Byers DE, Holtzman MJ, Vermi W, Skjodt K, Crouch E, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "25716998", "url": "https://glygen.org/publication/PubMed/25716998" } ] }, { "title": "Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Chu M L, Weil D, de Wet W, Bernard M, Sippola M, Ramirez F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2579949", "url": "https://glygen.org/publication/PubMed/2579949" } ] }, { "title": "Activation of human T cells by CD1 and self-lipids.", "journal": "Immunological reviews", "date": "2015", "authors": "de Jong A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "26284469", "url": "https://glygen.org/publication/PubMed/26284469" } ] }, { "title": "Recognition of Microbial Glycolipids by Natural Killer T Cells.", "journal": "Frontiers in immunology", "date": "2015", "authors": "Zajonc DM, Girardi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "26300885", "url": "https://glygen.org/publication/PubMed/26300885" } ] }, { "title": "Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.", "journal": "Biochem. J.", "date": "1989", "authors": "Ala-Kokko L, Kontusaari S, Baldwin C T, Kuivaniemi H, Prockop D J", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2764886", "url": "https://glygen.org/publication/PubMed/2764886" } ] }, { "title": "Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).", "journal": "Gene", "date": "1989", "authors": "Benson-Chanda V, Su M W, Weil D, Chu M L, Ramirez F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2777083", "url": "https://glygen.org/publication/PubMed/2777083" } ] }, { "title": "Nucleotide and amino acid sequences of the entire human alpha 1 (III) collagen.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Janeczko R A, Ramirez F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2780304", "url": "https://glygen.org/publication/PubMed/2780304" } ] }, { "title": "Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "2808425", "url": "https://glygen.org/publication/PubMed/2808425" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.", "journal": "Journal of medical genetics", "date": "2017", "authors": "Vandervore L, Stouffs K, Tanyalcin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jorgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "28258187", "url": "https://glygen.org/publication/PubMed/28258187" } ] }, { "title": "H-ras oncogene-transformed human bronchial epithelial cells (TBE-1) secrete a single metalloprotease capable of degrading basement membrane collagen.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Collier IE, Wilhelm SM, Eisen AZ, Marmer BL, Grant GA, Seltzer JL, Kronberger A, He CS, Bauer EA, Goldberg GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2834383", "url": "https://glygen.org/publication/PubMed/2834383" } ] }, { "title": "Inhibition of the platelet-derived growth factor receptor beta (PDGFRB) using gene silencing, crenolanib besylate, or imatinib mesylate hampers the malignant phenotype of mesothelioma cell lines.", "journal": "Genes & cancer", "date": "2017", "authors": "Melaiu O, Catalano C, De Santi C, Cipollini M, Figlioli G, Pelle L, Barone E, Evangelista M, Guazzelli A, Boldrini L, Sensi E, Bonotti A, Foddis R, Cristaudo A, Mutti L, Fontanini G, Gemignani F, Landi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "28435517", "url": "https://glygen.org/publication/PubMed/28435517" } ] }, { "title": "Purification of a gelatin-degrading type IV collagenase secreted by ras oncogene-transformed fibroblasts.", "journal": "Journal of the National Cancer Institute", "date": "1988", "authors": "Spinucci C, Zucker S, Wieman JM, Lysik RM, Imhof B, Ramamurthy N, Liotta LA, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "2845110", "url": "https://glygen.org/publication/PubMed/2845110" } ] }, { "title": "Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.", "journal": "American journal of medical genetics. Part A", "date": "2017", "authors": "Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "28742248", "url": "https://glygen.org/publication/PubMed/28742248" } ] }, { "title": "A precision therapy against cancers driven by KIT/PDGFRA mutations.", "journal": "Science translational medicine", "date": "2017", "authors": "Evans EK, Gardino AK, Kim JL, Hodous BL, Shutes A, Davis A, Zhu XJ, Schmidt-Kittler O, Wilson D, Wilson K, DiPietro L, Zhang Y, Brooijmans N, LaBranche TP, Wozniak A, Gebreyohannes YK, Schoffski P, Heinrich MC, DeAngelo DJ, Miller S, Wolf B, Kohl N, Guzi T, Lydon N, Boral A, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29093181", "url": "https://glygen.org/publication/PubMed/29093181" } ] }, { "title": "The PDGF/PDGFR pathway as a drug target.", "journal": "Molecular aspects of medicine", "date": "2018", "authors": "Papadopoulos N, Lennartsson J", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29137923", "url": "https://glygen.org/publication/PubMed/29137923" } ] }, { "title": "Triple Angiokinase Inhibitor Nintedanib Directly Inhibits Tumor Cell Growth and Induces Tumor Shrinkage via Blocking Oncogenic Receptor Tyrosine Kinases.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2018", "authors": "Hilberg F, Tontsch-Grunt U, Baum A, Le AT, Doebele RC, Lieb S, Gianni D, Voss T, Garin-Chesa P, Haslinger C, Kraut N", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29263244", "url": "https://glygen.org/publication/PubMed/29263244" } ] }, { "title": "The role of small molecule platelet-derived growth factor receptor (PDGFR) inhibitors in the treatment of neoplastic disorders.", "journal": "Pharmacological research", "date": "2018", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29408302", "url": "https://glygen.org/publication/PubMed/29408302" } ] }, { "title": "Cell surface proteoglycan binds mouse mammary epithelial cells to fibronectin and behaves as a receptor for interstitial matrix.", "journal": "The Journal of cell biology", "date": "1988", "authors": "Saunders S, Bernfield M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "2963012", "url": "https://glygen.org/publication/PubMed/2963012" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P02461", "url": "" }, { "database": "GlyConnect", "id": "1127", "url": "https://glyconnect.expasy.org/browser/proteins/1127" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Structural and clinical consequences of activation loop mutations in class III receptor tyrosine kinases.", "journal": "Pharmacology & therapeutics", "date": "2018", "authors": "Klug LR, Kent JD, Heinrich MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "29964125", "url": "https://glygen.org/publication/PubMed/29964125" } ] }, { "title": "The collagen substrate specificity of human neutrophil collagenase.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Hasty KA, Jeffrey JJ, Hibbs MS, Welgus HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "3038863", "url": "https://glygen.org/publication/PubMed/3038863" } ] }, { "title": "Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies.", "journal": "Nature communications", "date": "2018", "authors": "Ip CKM, Ng PKS, Jeong KJ, Shao SH, Ju Z, Leonard PG, Hua X, Vellano CP, Woessner R, Sahni N, Scott KL, Mills GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "30389923", "url": "https://glygen.org/publication/PubMed/30389923" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P02461", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Ripretinib (DCC-2618) Is a Switch Control Kinase Inhibitor of a Broad Spectrum of Oncogenic and Drug-Resistant KIT and PDGFRA Variants.", "journal": "Cancer cell", "date": "2019", "authors": "Smith BD, Kaufman MD, Lu WP, Gupta A, Leary CB, Wise SC, Rutkoski TJ, Ahn YM, Al-Ani G, Bulfer SL, Caldwell TM, Chun L, Ensinger CL, Hood MM, McKinley A, Patt WC, Ruiz-Soto R, Su Y, Telikepalli H, Town A, Turner BA, Vogeti L, Vogeti S, Yates K, Janku F, Abdul Razak AR, Rosen O, Heinrich MC, Flynn DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "31085175", "url": "https://glygen.org/publication/PubMed/31085175" } ] }, { "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": "Human type III collagen 'variant' is a cDNA cloning artefact.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Molyneux K, Dalgleish R", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "3211760", "url": "https://glygen.org/publication/PubMed/3211760" } ] }, { "title": "Degradation of basement membranes by human matrix metalloproteinase 3 (stromelysin).", "journal": "The Biochemical journal", "date": "1988", "authors": "Bejarano PA, Noelken ME, Suzuki K, Hudson BG, Nagase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "3223920", "url": "https://glygen.org/publication/PubMed/3223920" } ] }, { "title": "Urinary Proteomics Associates with COVID-19 Severity: Pilot Proof-of-Principle Data and Design of a Multicentric Diagnostic Study.", "journal": "Proteomics", "date": "2020-09-10", "authors": "Wendt Ralph, Kalbitz Sven, L\u00fcbbert Christoph, Kellner Nils, Macholz Martin, Schroth Stefanie, Ermisch J\u00f6rg, Latosisnka Agnieszka, Arnold Benjamin, Mischak Harald, Beige Joachim, Metzger Jochen", "evidence": [ { "database": "GlyGen", "id": "A0131", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "32960510", "url": "https://glygen.org/publication/PubMed/32960510" } ] }, { "title": "Human pro alpha 1(III) collagen: cDNA sequence for the 3' end.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Mankoo B S, Dalgleish R", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "3357782", "url": "https://glygen.org/publication/PubMed/3357782" } ] }, { "title": "Nucleotide sequence of a cDNA coding for the amino-terminal region of human prepro alpha 1(III) collagen.", "journal": "Nucleic Acids Res.", "date": "1988", "authors": "Toman P D, Ricca G A, de Crombrugghe B", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "3405773", "url": "https://glygen.org/publication/PubMed/3405773" } ] }, { "title": "Recognition of solubilized apoproteins from delipidated, oxidized low density lipoprotein (LDL) by the acetyl-LDL receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Parthasarathy S, Fong LG, Otero D, Steinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "3467373", "url": "https://glygen.org/publication/PubMed/3467373" } ] }, { "title": "COL3A1 Overexpression Associates with Poor Prognosis and Cisplatin Resistance in Lung Cancer", "journal": "Balkan medical journal", "date": "2022-11-07", "authors": "Wang Lihuai, Sun Yinhui, Guo Zhongcong, Liu Hua", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" } ], "reference": [ { "type": "PubMed", "id": "36148899", "url": "https://glygen.org/publication/PubMed/36148899" } ] }, { "title": "Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes.", "journal": "Circulation. Genomic and precision medicine", "date": "2023-03-03", "authors": "Lui Madeline M, Shadrina Mariya, Gelb Bruce D, Kontorovich Amy R", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" } ], "reference": [ { "type": "PubMed", "id": "36866665", "url": "https://glygen.org/publication/PubMed/36866665" } ] }, { "title": "COL3A1, CXCL8, VCAN, THBS2, and COL1A2 are correlated with the onset of biliary atresia.", "journal": "Medicine", "date": "2023-03-17", "authors": "Li Hui, Cao Lei, Li Hong", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" } ], "reference": [ { "type": "PubMed", "id": "36930067", "url": "https://glygen.org/publication/PubMed/36930067" } ] }, { "title": "Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.", "journal": "Molecular genetics & genomic medicine", "date": "2023-09", "authors": "Heo Won Young, Jang Shin Yi, Park Taek Kyu, Ki Chang-Seok, Kim Jong-Won, Kim Duk-Kyung, Jang Ja-Hyun", "evidence": [ { "database": "RefSeq", "id": "NP_000081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000081" } ], "reference": [ { "type": "PubMed", "id": "37461200", "url": "https://glygen.org/publication/PubMed/37461200" } ] }, { "title": "Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth.", "journal": "Biochemistry", "date": "1986", "authors": "Miskulin M, Dalgleish R, Kluve-Beckerman B, Rennard S I, Tolstoshev P, Brantly M, Crystal R G", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "3754462", "url": "https://glygen.org/publication/PubMed/3754462" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02461", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02461" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1985", "authors": "Emanuel B S, Cannizzaro L A, Seyer J M, Myers J C", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "3858826", "url": "https://glygen.org/publication/PubMed/3858826" } ] }, { "title": "Interaction of fibronectin with C1q and collagen. Effects of ionic strength and denaturation of the collagenous component.", "journal": "European journal of biochemistry", "date": "1985", "authors": "Ingham KC, Landwehr R, Engel J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1474244", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1474244" } ], "reference": [ { "type": "PubMed", "id": "3872795", "url": "https://glygen.org/publication/PubMed/3872795" } ] }, { "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": "Covalent structure of collagen: amino acid sequence of cyanogen bromide peptides from the amino-terminal segment of type III collagen of human liver.", "journal": "Biochemistry", "date": "1977", "authors": "Seyer JM, Kang AH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "557335", "url": "https://glygen.org/publication/PubMed/557335" } ] }, { "title": "Role of lysines in mediating interaction of modified low density lipoproteins with the scavenger receptor of human monocyte macrophages.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Haberland ME, Olch CL, Folgelman AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "6088540", "url": "https://glygen.org/publication/PubMed/6088540" } ] }, { "title": "Molecular cloning and carboxyl-propeptide analysis of human type III procollagen.", "journal": "Nucleic Acids Res.", "date": "1984", "authors": "Loidl H R, Brinker J M, May M, Pihlajaniemi T, Morrow S, Rosenbloom J, Myers J C", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "6096827", "url": "https://glygen.org/publication/PubMed/6096827" } ] }, { "title": "Cartilage proteoglycan binding region and link protein. Radioimmunoassays and the detection of masked determinants in aggregates.", "journal": "The Biochemical journal", "date": "1983", "authors": "Ratcliffe A, Hardingham T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6193777", "url": "https://glygen.org/publication/PubMed/6193777" } ] }, { "title": "Covalent structure of collagen: amino acid sequence of alpha 1 (III)-CB5 from type III collagen of human liver.", "journal": "Biochemistry", "date": "1980", "authors": "Seyer JM, Mainardi C, Kang AH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "6246925", "url": "https://glygen.org/publication/PubMed/6246925" } ] }, { "title": "The scavenger cell pathway for lipoprotein degradation: specificity of the binding site that mediates the uptake of negatively-charged LDL by macrophages.", "journal": "Journal of supramolecular structure", "date": "1980", "authors": "Brown MS, Basu SK, Falck JR, Ho YK, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "6255257", "url": "https://glygen.org/publication/PubMed/6255257" } ] }, { "title": "Partial purification and characterization of a neutral protease which cleaves type IV collagen.", "journal": "Biochemistry", "date": "1981", "authors": "Liotta LA, Tryggvason K, Garbisa S, Robey PG, Abe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6258630", "url": "https://glygen.org/publication/PubMed/6258630" } ] }, { "title": "The collagen substrate specificity of human skin fibroblast collagenase.", "journal": "The Journal of biological chemistry", "date": "1981", "authors": "Welgus HG, Jeffrey JJ, Eisen AZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6270089", "url": "https://glygen.org/publication/PubMed/6270089" } ] }, { "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": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.", "journal": "The Biochemical journal", "date": "1984", "authors": "Vogel KG, Paulsson M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6439184", "url": "https://glygen.org/publication/PubMed/6439184" } ] }, { "title": "Type VIII collagen. Synthesis by normal and malignant cells in culture.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "1984", "authors": "Sage H, Balian G, Vogel AM, Bornstein P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "6694361", "url": "https://glygen.org/publication/PubMed/6694361" } ] }, { "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": "Covalent structure of collagen: amino acid sequence of five consecutive CNBr peptides from type III collagen of human liver.", "journal": "Biochemistry", "date": "1978", "authors": "Seyer JM, Kang AH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "687591", "url": "https://glygen.org/publication/PubMed/687591" } ] }, { "title": "Covalent structure of collagen: amino acid sequence of alpha 1(III)-CB9 from type III collagen of human liver.", "journal": "Biochemistry", "date": "1981", "authors": "Seyer JM, Kang AH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7016180", "url": "https://glygen.org/publication/PubMed/7016180" } ] }, { "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-8948216", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8948216" } ], "reference": [ { "type": "PubMed", "id": "710450", "url": "https://glygen.org/publication/PubMed/710450" } ] }, { "title": "Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.", "journal": "Biochem. J.", "date": "1995", "authors": "Chiodo A A, Sillence D O, Cole W G, Bateman J F", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7487954", "url": "https://glygen.org/publication/PubMed/7487954" } ] }, { "title": "Binding of tenascin-C to soluble fibronectin and matrix fibrils.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Chung CY, Zardi L, Erickson HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7499434", "url": "https://glygen.org/publication/PubMed/7499434" } ] }, { "title": "Solid-phase von Willebrand factor contains a conformationally active RGD motif that mediates endothelial cell adhesion through the alpha v beta 3 receptor.", "journal": "Blood", "date": "1993", "authors": "Denis C, Williams JA, Lu X, Meyer D, Baruch D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7505120", "url": "https://glygen.org/publication/PubMed/7505120" } ] }, { "title": "Autophosphorylation of the focal adhesion kinase, pp125FAK, directs SH2-dependent binding of pp60src.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Schaller MD, Hildebrand JD, Shannon JD, Fox JW, Vines RR, Parsons JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "7509446", "url": "https://glygen.org/publication/PubMed/7509446" } ] }, { "title": "Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Nishimura SL, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7525578", "url": "https://glygen.org/publication/PubMed/7525578" } ] }, { "title": "Tenascin-R (J1 160/180 inhibits fibronectin-mediated cell adhesion--functional relatedness to tenascin-C.", "journal": "Journal of cell science", "date": "1994", "authors": "Pesheva P, Probstmeier R, Skubitz AP, McCarthy JB, Furcht LT, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7527058", "url": "https://glygen.org/publication/PubMed/7527058" } ] }, { "title": "Crystal structure of an integrin-binding fragment of vascular cell adhesion molecule-1 at 1.8 A resolution.", "journal": "Nature", "date": "1995", "authors": "Jones EY, Harlos K, Bottomley MJ, Robinson RC, Driscoll PC, Edwards RM, Clements JM, Dudgeon TJ, Stuart DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "7531291", "url": "https://glygen.org/publication/PubMed/7531291" } ] }, { "title": "The integrin receptor alpha 8 beta 1 mediates interactions of embryonic chick motor and sensory neurons with tenascin-C.", "journal": "Neuron", "date": "1995", "authors": "Varnum-Finney B, Venstrom K, Muller U, Kypta R, Backus C, Chiquet M, Reichardt LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7541634", "url": "https://glygen.org/publication/PubMed/7541634" } ] }, 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"https://glygen.org/publication/PubMed/7542404" } ] }, { "title": "Alpha v beta 1 is a receptor for vitronectin and fibrinogen, and acts with alpha 5 beta 1 to mediate spreading on fibronectin.", "journal": "Journal of cell science", "date": "1995", "authors": "Marshall JF, Rutherford DC, McCartney AC, Mitjans F, Goodman SL, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7542669", "url": "https://glygen.org/publication/PubMed/7542669" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "Macrophage scavenger receptor mediates the endocytic uptake and degradation of advanced glycation end products of the Maillard reaction.", "journal": "European journal of biochemistry", "date": "1995", "authors": "Araki N, Higashi T, Mori T, Shibayama R, Kawabe Y, Kodama T, Takahashi K, Shichiri M, Horiuchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "7607209", "url": "https://glygen.org/publication/PubMed/7607209" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "Endothelial cell attachment and spreading on human tenascin is mediated by alpha 2 beta 1 and alpha v beta 3 integrins.", "journal": "Journal of cell science", "date": "1993", "authors": "Sriramarao P, Mendler M, Bourdon MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7693733", "url": "https://glygen.org/publication/PubMed/7693733" } ] }, { "title": "Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.", "journal": "Human mutation", "date": "1995", "authors": "Tromp G, De Paepe A, Nuytinck L, Madhatheri S, Kuivaniemi H", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7749417", "url": "https://glygen.org/publication/PubMed/7749417" } ] }, { "title": "A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.", "journal": "Human molecular genetics", "date": "1994", "authors": "Narcisi P, Richards AJ, Ferguson SD, Pope FM", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7833919", "url": "https://glygen.org/publication/PubMed/7833919" } ] }, { "title": "Interaction of biglycan with type I collagen.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schonherr E, Witsch-Prehm P, Harrach B, Robenek H, Rauterberg J, Kresse H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7852349", "url": "https://glygen.org/publication/PubMed/7852349" } ] }, { "title": "Onco-fetal/laminin-binding collagen from colon carcinoma: detection of new sequences.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1995", "authors": "Minafra I P, Andriolo M, Basiric\u00f2 L, Aquino A, Minafra S, Boutillon M M, van der Rest M", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7864881", "url": "https://glygen.org/publication/PubMed/7864881" } ] }, { "title": "Matrix metalloproteinase-2 is an interstitial collagenase. Inhibitor-free enzyme catalyzes the cleavage of collagen fibrils and soluble native type I collagen generating the specific 3/4- and 1/4-length fragments.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Aimes RT, Quigley JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "7890717", "url": "https://glygen.org/publication/PubMed/7890717" } ] }, { "title": "Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.", "journal": "Human molecular genetics", "date": "1994", "authors": "Madhatheri SL, Tromp G, Gustavson KH, Kuivaniemi H", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "7912131", "url": "https://glygen.org/publication/PubMed/7912131" } ] }, { "title": "The expression of functional link protein in a baculovirus system: analysis of mutants lacking the A, B and B' domains.", "journal": "The Biochemical journal", "date": "1994", "authors": "Grover J, Roughley PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8002934", "url": "https://glygen.org/publication/PubMed/8002934" } ] }, { "title": "Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.", "journal": "Human mutation", "date": "1994", "authors": "Nuytinck L, De Paepe A, Renard JP, Adriaens F, Leroy J", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8019562", "url": "https://glygen.org/publication/PubMed/8019562" } ] }, { "title": "Direct interaction of v-Src with the focal adhesion kinase mediated by the Src SH2 domain.", "journal": "Molecular biology of the cell", "date": "1994", "authors": "Xing Z, Chen HC, Nowlen JK, Taylor SJ, Shalloway D, Guan JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "8054685", "url": "https://glygen.org/publication/PubMed/8054685" } ] }, { "title": "Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.", "journal": "American journal of medical genetics", "date": "1993", "authors": "Narcisi P, Wu Y, Tromp G, Earley JJ, Richards AJ, Pope FM, Kuivaniemi H", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8098182", "url": "https://glygen.org/publication/PubMed/8098182" } ] }, { "title": "Platelet adhesion to collagen types I through VIII under conditions of stasis and flow is mediated by GPIa/IIa (alpha 2 beta 1-integrin).", "journal": "Blood", "date": "1994", "authors": "Saelman EU, Nieuwenhuis HK, Hese KM, de Groot PG, Heijnen HF, Sage EH, Williams S, McKeown L, Gralnick HR, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8118028", "url": "https://glygen.org/publication/PubMed/8118028" } ] }, { "title": "The type I macrophage scavenger receptor binds to gram-positive bacteria and recognizes lipoteichoic acid.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Dunne DW, Resnick D, Greenberg J, Krieger M, Joiner KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8127896", "url": "https://glygen.org/publication/PubMed/8127896" } ] }, { "title": "Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "8178173", "url": "https://glygen.org/publication/PubMed/8178173" } ] }, { "title": "Tissue-specific expression of the fibril-associated collagens XII and XIV.", "journal": "Journal of cell science", "date": "1994", "authors": "Walchli C, Koch M, Chiquet M, Odermatt BF, Trueb B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "8207089", "url": "https://glygen.org/publication/PubMed/8207089" } ] }, { "title": "Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.", "journal": "Neurology", "date": "1993", "authors": "Kuivaniemi H, Prockop D J, Wu Y, Madhatheri S L, Kleinert C, Earley J J, Jokinen A, Stolle C, Majamaa K, Myllyl\u00e4 V V", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8255472", "url": "https://glygen.org/publication/PubMed/8255472" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "title": "Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.", "journal": "Am. J. Hum. Genet.", "date": "1993", "authors": "Milewicz D M, Witz A M, Smith A C, Manchester D K, Waldstein G, Byers P H", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8317500", "url": "https://glygen.org/publication/PubMed/8317500" } ] }, { "title": "Interaction of type IV collagen with the isolated integrins alpha 1 beta 1 and alpha 2 beta 1.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Kern A, Eble J, Golbik R, Kuhn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8344274", "url": "https://glygen.org/publication/PubMed/8344274" } ] }, { "title": "The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.", "journal": "Journal of medical genetics", "date": "1993", "authors": "Richards A, Narcisi P, Lloyd J, Ferguson C, Pope FM", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8411057", "url": "https://glygen.org/publication/PubMed/8411057" } ] }, { "title": "Polynucleotide binding to macrophage scavenger receptors depends on the formation of base-quartet-stabilized four-stranded helices.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Pearson AM, Rich A, Krieger M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8429030", "url": "https://glygen.org/publication/PubMed/8429030" } ] }, { "title": "Interaction of heparin cofactor II with biglycan and decorin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Whinna HC, Choi HU, Rosenberg LC, Church FC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8440685", "url": "https://glygen.org/publication/PubMed/8440685" } ] }, { "title": "Role of zinc-binding- and hemopexin domain-encoded sequences in the substrate specificity of collagenase and stromelysin-2 as revealed by chimeric proteins.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sanchez-Lopez R, Alexander CM, Behrendtsen O, Breathnach R, Werb Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8463259", "url": "https://glygen.org/publication/PubMed/8463259" } ] }, { "title": "Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.", "journal": "The Journal of clinical investigation", "date": "1993", "authors": "Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgard O, Darling RC, Abbott WM, et al.", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8514866", "url": "https://glygen.org/publication/PubMed/8514866" } ] }, { "title": "Receptor-ligand interaction between CD44 and osteopontin (Eta-1).", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber GF, Ashkar S, Glimcher MJ, Cantor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8560266", "url": "https://glygen.org/publication/PubMed/8560266" } ] }, { "title": "Biochemical characterization of human collagenase-3.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Knauper V, Lopez-Otin C, Smith B, Knight G, Murphy G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8576151", "url": "https://glygen.org/publication/PubMed/8576151" } ] }, { "title": "Stimulation of fibroblast growth factor receptor-1 occupancy and signaling by cell surface-associated syndecans and glypican.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Steinfeld R, Van Den Berghe H, David G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "8609172", "url": "https://glygen.org/publication/PubMed/8609172" } ] }, { "title": "A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.", "journal": "Human mutation", "date": "1996", "authors": "McGrory J, Costa T, Cole WG", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8664902", "url": "https://glygen.org/publication/PubMed/8664902" } ] }, { "title": "Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV.", "journal": "Human mutation", "date": "1995", "authors": "Johnson PH, Richards AJ, Lloyd JC, Pope FM, Hopkinson DA", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8680408", "url": "https://glygen.org/publication/PubMed/8680408" } ] }, { "title": "Scavenger receptor-mediated adhesion of microglia to beta-amyloid fibrils.", "journal": "Nature", "date": "1996", "authors": "El Khoury J, Hickman SE, Thomas CA, Cao L, Silverstein SC, Loike JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8751442", "url": "https://glygen.org/publication/PubMed/8751442" } ] }, { "title": "Binding studies of a triple-helical peptide model of macrophage scavenger receptor to tetraplex nucleic acids.", "journal": "Biochemistry", "date": "1996", "authors": "Mielewczyk SS, Breslauer KJ, Anachi RB, Brodsky B", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "8784195", "url": "https://glygen.org/publication/PubMed/8784195" } ] }, { "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. Roles of the beta subunit extracellular and cytoplasmic domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8798654", "url": "https://glygen.org/publication/PubMed/8798654" } ] }, { "title": "Identification of alpha v beta 3 as a heterotypic ligand for CD31/PECAM-1.", "journal": "Journal of cell science", "date": "1996", "authors": "Buckley CD, Doyonnas R, Newton JP, Blystone SD, Brown EJ, Watt SM, Simmons DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8838667", "url": "https://glygen.org/publication/PubMed/8838667" } ] }, { "title": "Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.", "journal": "Clinical genetics", "date": "1996", "authors": "Mackay K, Raghunath M, Superti-Furga A, Steinmann B, Dalgleish R", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8884076", "url": "https://glygen.org/publication/PubMed/8884076" } ] }, { "title": "Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB).", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Somasundaram R, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "8900172", "url": "https://glygen.org/publication/PubMed/8900172" } ] }, { "title": "Osteopontin N-terminal domain contains a cryptic adhesive sequence recognized by alpha9beta1 integrin.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Smith LL, Cheung HK, Ling LE, Chen J, Sheppard D, Pytela R, Giachelli CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8910476", "url": "https://glygen.org/publication/PubMed/8910476" } ] }, { "title": "Macrophage metalloelastase degrades matrix and myelin proteins and processes a tumour necrosis factor-alpha fusion protein.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Chandler S, Cossins J, Lury J, Wells G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8920930", "url": "https://glygen.org/publication/PubMed/8920930" } ] }, { "title": "Interaction of cartilage matrix protein with aggrecan. Increased covalent cross-linking with tissue maturation.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Hauser N, Paulsson M, Heinegard D, Morgelin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "8943283", "url": "https://glygen.org/publication/PubMed/8943283" } ] }, { "title": "A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.", "journal": "Human mutation", "date": "1997", "authors": "Anderson DW, Thakker-Varia S, Tromp G, Kuivaniemi H, Stolle CA", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "8990011", "url": "https://glygen.org/publication/PubMed/8990011" } ] }, { "title": "cDNA cloning and chromosomal localization of the human telencephalin and its distinctive interaction with lymphocyte function-associated antigen-1.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mizuno T, Yoshihara Y, Inazawa J, Kagamiyama H, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "8995416", "url": "https://glygen.org/publication/PubMed/8995416" } ] }, { "title": "Membrane type 1 matrix metalloproteinase digests interstitial collagens and other extracellular matrix macromolecules.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ohuchi E, Imai K, Fujii Y, Sato H, Seiki M, Okada Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "8999957", "url": "https://glygen.org/publication/PubMed/8999957" } ] }, { "title": "Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.", "journal": "Cell", "date": "1997", "authors": "O'Reilly MS, Boehm T, Shing Y, Fukai N, Vasios G, Lane WS, Flynn E, Birkhead JR, Olsen BR, Folkman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2022090", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022090" } ], "reference": [ { "type": "PubMed", "id": "9008168", "url": "https://glygen.org/publication/PubMed/9008168" } ] }, { "title": "Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis.", "journal": "The Journal of investigative dermatology", "date": "1997", "authors": "Smith LT, Schwarze U, Goldstein J, Byers PH", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "9036918", "url": "https://glygen.org/publication/PubMed/9036918" } ] }, { "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": "Expression of three membrane-type matrix metalloproteinases (MT-MMPs) in rat vascular smooth muscle cells and characterization of MT3-MMPs with and without transmembrane domain.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Shofuda K, Yasumitsu H, Nishihashi A, Miki K, Miyazaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "9092507", "url": "https://glygen.org/publication/PubMed/9092507" } ] }, { "title": "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.", "journal": "Hum. Mutat.", "date": "1997", "authors": "Kuivaniemi H, Tromp G, Prockop D J", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "9101290", "url": "https://glygen.org/publication/PubMed/9101290" } ] }, { "title": "Multimerization of the cytoplasmic domain of syndecan-4 is required for its ability to activate protein kinase C.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Oh ES, Woods A, Couchman JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000170", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000170" } ], "reference": [ { "type": "PubMed", "id": "9115237", "url": "https://glygen.org/publication/PubMed/9115237" } ] }, { "title": "Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.", "journal": "Clinical genetics", "date": "1996", "authors": "McGrory J, Weksberg R, Thorner P, Cole WG", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "reference": [ { "type": "PubMed", "id": "9147870", "url": "https://glygen.org/publication/PubMed/9147870" } ] }, { "title": "Endocytic uptake of lysophosphatidylcholine mediated by macrophage scavenger receptor plays a major role in oxidized low density lipoprotein-induced macrophage growth.", "journal": "Journal of atherosclerosis and thrombosis", "date": "1996", "authors": "Sakai M, Miyazaki A, Hakamata H, Kobori S, Shichiri M, Horiuchi S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000480", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000480" } ], "reference": [ { "type": "PubMed", "id": "9225214", "url": "https://glygen.org/publication/PubMed/9225214" } ] }, { "title": "The alpha v beta 3 integrin `vitronectin receptor`.", "journal": "The international journal of biochemistry & cell biology", "date": "1997", "authors": "Horton MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9251239", "url": "https://glygen.org/publication/PubMed/9251239" } ] }, { "title": "Localization of a binding site for the proteoglycan decorin on collagen XIV (undulin).", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Ehnis T, Dieterich W, Bauer M, Kresse H, Schuppan D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9252349", "url": "https://glygen.org/publication/PubMed/9252349" } ] }, { "title": "LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes.", "journal": "Immunity", "date": "1997", "authors": "Meyaard L, Adema GJ, Chang C, Woollatt E, Sutherland GR, Lanier LL, Phillips JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9285412", "url": "https://glygen.org/publication/PubMed/9285412" } ] }, { "title": "The C-type lectin domains of lecticans, a family of aggregating chondroitin sulfate proteoglycans, bind tenascin-R by protein-protein interactions independent of carbohydrate moiety.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Aspberg A, Miura R, Bourdoulous S, Shimonaka M, Heinegard D, Schachner M, Ruoslahti E, Yamaguchi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "9294172", "url": "https://glygen.org/publication/PubMed/9294172" } ] }, { "title": "p46, a novel natural killer cell-specific surface molecule that mediates 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], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "peptide cross-linking", "id": "GO:0018149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018149", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "elastic fiber assembly", "id": "GO:0048251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "aorta smooth muscle tissue morphogenesis", "id": "GO:0060414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060414", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "endochondral bone morphogenesis", "id": "GO:0060350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060350", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "limb joint morphogenesis", "id": "GO:0036022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036022", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "transforming growth factor beta1 production", "id": "GO:0032905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032905", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent", "id": "GO:0005201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "extracellular matrix structural constituent conferring tensile strength", "id": "GO:0030020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030020", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "platelet-derived growth factor binding", "id": "GO:0048407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048407", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "collagen type III trimer", "id": "GO:0005586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005586", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "collagen alpha-1(III) chain O-glycosylated 1 (human)", "definition": "A collagen alpha-1(III) chain (human) that has been O-glycosylated at the residue equivalent to Ser-152 of the amino acid sequence represented by UniProtKB:P02461-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02461-1, Ser-152, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052477", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052477" } ] }, { "name": "collagen alpha-1(III) chain O-glycosylated 2 (human)", "definition": "A collagen alpha-1(III) chain (human) that has been O-glycosylated at the residue equivalent to Ser-152 of the amino acid sequence represented by UniProtKB:P02461-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02461-1, Ser-152, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052478", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052478" } ] }, { "name": "collagen alpha-1(III) chain O-glycosylated 3 (human)", "definition": "A collagen alpha-1(III) chain (human) that has been O-glycosylated at the residue equivalent to Thr-146 of the amino acid sequence represented by UniProtKB:P02461-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02461-1, Thr-146, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052479", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052479" } ] }, { "name": "collagen alpha-1(III) chain O-glycosylated 4 (human)", "definition": "A collagen alpha-1(III) chain (human) that has been O-glycosylated at the residue equivalent to Thr-96 of the amino acid sequence represented by UniProtKB:P02461-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02461-1, Thr-96, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052480", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052480" } ] }, { "name": "collagen alpha-1(III) chain O-glycosylated 5 (human)", "definition": "A collagen alpha-1(III) chain (human) that has been O-glycosylated at the residue equivalent to Thr-96 of the amino acid sequence represented by UniProtKB:P02461-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02461-1, Thr-96, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000052481", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052481" } ] } ], "site_annotation": [ { "start_pos": 1037, "end_pos": 1039, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1367, "end_pos": 1369, "annotation": "n_glycosylation_sequon" }, { "start_pos": 150, "end_pos": 152, "annotation": "n_glycosylation_sequon" }, { "start_pos": 389, "end_pos": 391, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.", "evidence": [ { "database": "UniProtKB", "id": "P02461", "url": "https://www.uniprot.org/uniprot/P02461" }, { "database": "PubMed", "id": "7016180", "url": "https://glygen.org/publication/PubMed/7016180" }, { "database": "PubMed", "id": "557335", "url": "https://glygen.org/publication/PubMed/557335" } ] } ], "interactions": [], "reactions": 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"description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ] }, "tissue": { "name": "urine", "namespace": "UBERON", "id": "0001088", "url": "http://purl.obolibrary.org/obo/UBERON_0001088" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "32960510", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32960510" } ] } ] } ], "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": [ 1367 ], "o_linked_sites": [ 96, 146, 152, 263, 614, 646, 721, 736, 1140, 1145 ], "snv_sites": [ 7, 96, 152, 295, 324, 397, 424, 467, 499, 588, 614, 646, 704, 736, 889, 912, 932, 1145, 1151, 1170, 1252, 1311, 1367, 1376, 1398, 1407, 1419 ], "glycation_sites": [], "phosphorylation_sites": [ 1378, 1383 ], "sequon_annotation_sites": [ { "start_pos": 1037, "end_pos": 1039 }, { "start_pos": 1367, "end_pos": 1369 }, { "start_pos": 150, "end_pos": 152 }, { "start_pos": 389, "end_pos": 391 } ] }, "section_stats": [ { "table_id": 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