{ "uniprot_canonical_ac": "Q53RD9-1", "uniprot_ac": "Q53RD9", "uniprot_id": "FBLN7_HUMAN", "mass": { "chemical_mass": 47376.0, "monoisotopic_mass": 47376.0 }, "refseq": { "ac": "NP_001121637", "name": "fibulin-7 isoform 2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, "gene_names": [ { "name": "FBLN7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q53RD9", "id": "Q53RD9" }, { "name": "FBLN7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "id": "NP_001121637" }, { "name": "TM14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "id": "NP_001121637" }, { "name": "TM14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q53RD9", "id": "Q53RD9" } ], "protein_names": [ { "name": "Fibulin-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q53RD9" }, { "name": "FIBL-7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "id": "NP_001121637" }, { "name": "FIBL-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q53RD9" }, { "name": "fibulin-7 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "id": "NP_001121637" } ], "function": [ { "annotation": "An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation.", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9#function" } ] }, { "annotation": "Dysregulation of fibulin expression by anti-Ro/SSA antibodiess may contribute to disorganization of the extracellular environment and thus cause injury to the salivary gland architecture and functionality observed in Sjogren syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "19229767", "url": "https://glygen.org/publication/PubMed/19229767" } ] }, { "annotation": "Fbln7-C terminal fragment inhibited the HUVEC tube formation and the vessel sprouting in aortic ring assays.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "24480309", "url": "https://glygen.org/publication/PubMed/24480309" } ] }, { "annotation": "Fibulin-7 (Fbln7) bound to angiopoietin-1 through interaction between the N-terminal portions of Fbln7 and angiopoietin-1.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "30924128", "url": "https://glygen.org/publication/PubMed/30924128" } ] }, { "annotation": "Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "37344348", "url": "https://glygen.org/publication/PubMed/37344348" } ] }, { "annotation": "Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "36370444", "url": "https://glygen.org/publication/PubMed/36370444" } ] }, { "annotation": "Heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "24694933", "url": "https://glygen.org/publication/PubMed/24694933" } ] }, { "annotation": "Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "32783359", "url": "https://glygen.org/publication/PubMed/32783359" } ] }, { "annotation": "This is the first report which confirms the presence of ligatin and fibulin-7 in human aqueous humor, quantified their differential expression, and indicated the possibility of their involvement in the maintenance of the trabecular meshwork structure in glaucoma progression.", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" }, { "database": "PubMed", "id": "30958601", "url": 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"MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q53RD9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q53RD9" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q53RD9", "url": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "common_name": "Human" } ], "gene": [ { "name": "FBLN7", "url": "https://www.uniprot.org/uniprot/Q53RD9", "locus": { "chromosome": "2", "start_pos": 112188218, "end_pos": 112138385, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000144152", "url": "https://www.ensembl.org/id/ENSG00000144152" } ] } } ], "crossref": [ { "id": "ENSG00000144152", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144152", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q53RD9", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q53RD9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00033", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBLN7", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FBLN7", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "129804", "url": "https://www.ncbi.nlm.nih.gov/gene/129804", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1246", "url": "https://glyconnect.expasy.org/browser/proteins/1246", "database": "GlyConnect", "categories": [ "Glycan", "Glycoproteomics" ] }, { "id": "26740", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26740", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q53RD9", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q53RD9*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000436", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000436", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009030", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:129804", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:129804", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "611551", "url": "http://www.omim.org/entry/611551", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q53RD9", "url": "https://www.nextprot.org/entry/NX_Q53RD9", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "NRGHFVM", "url": "https://omabrowser.org/oma/group/NRGHFVM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "19806at2759", "url": "http://www.orthodb.org/?query=19806at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24034", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24034", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24034:SF94", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24034:SF94", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00008", "url": "http://pfam.xfam.org/family/PF00008", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00084", "url": "http://pfam.xfam.org/family/PF00084", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07645", "url": "http://pfam.xfam.org/family/PF07645", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q53RD9", "url": "https://pharos.nih.gov/targets/Q53RD9", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057356", "url": "https://proconsortium.org/app/entry/PR:000057356", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q53RD9", "url": "http://purl.obolibrary.org/obo/PR_Q53RD9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q53RD9", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "B8ZZC1", "url": "https://www.uniprot.org/uniprot/B8ZZC1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZC1-1", "url": "https://www.uniprot.org/uniprot/B8ZZC1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZ65", "url": "https://www.uniprot.org/uniprot/H7BZ65", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZ65-1", "url": "https://www.uniprot.org/uniprot/H7BZ65-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53RD9-1", "url": "https://www.uniprot.org/uniprot/Q53RD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53RD9-2", "url": "https://www.uniprot.org/uniprot/Q53RD9-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53RD9-3", "url": "https://www.uniprot.org/uniprot/Q53RD9-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53RD9-4", "url": "https://www.uniprot.org/uniprot/Q53RD9-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IY13", "url": "https://www.uniprot.org/uniprot/Q8IY13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8IY13-1", "url": "https://www.uniprot.org/uniprot/Q8IY13-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 439, "header": "sp|Q53RD9-1|FBLN7_HUMAN Isoform 1 of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "isoforms": [ { "isoform_ac": "B8ZZC1-1", "url": "", "sequence": { "sequence": "MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPLTWRGLRRWRWTSTCRNTWTAPSRPTTCPRSPSLYPPMTSEGTQGHWGVES", "length": 366, "header": "tr|B8ZZC1-1|FBLN7_HUMAN Computationally mapped isoform of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187537, "end_pos": 112138656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409903.5", "url": "https://www.ensembl.org/id/ENST00000409903.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000386295.1", "url": "https://www.ensembl.org/id/ENSP00000386295.1" } ] } }, { "isoform_ac": "H7BZ65-1", "url": "", "sequence": { "sequence": "RFAEGIRHMKSRLAALQNSVGRVGPDALPGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGN", "length": 273, "header": "tr|H7BZ65-1|H7BZ65_HUMAN Computationally mapped isoform of Fibulin 7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=1 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187323, "end_pos": 112159748, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441565.5", "url": "https://www.ensembl.org/id/ENST00000441565.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388025.1", "url": "https://www.ensembl.org/id/ENSP00000388025.1" } ] } }, { "isoform_ac": "Q53RD9-1", "url": "", "sequence": { "sequence": "MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 439, "header": "sp|Q53RD9-1|FBLN7_HUMAN Isoform 1 of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187503, "end_pos": 112138656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000331203.7", "url": "https://www.ensembl.org/id/ENST00000331203.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000331411.2", "url": "https://www.ensembl.org/id/ENSP00000331411.2" } ] } }, { "isoform_ac": "Q53RD9-2", "url": "", "sequence": { "sequence": "MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 393, "header": "sp|Q53RD9-2|FBLN7_HUMAN Isoform 2 of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187503, "end_pos": 112138656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409450.7", "url": "https://www.ensembl.org/id/ENST00000409450.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000387000.3", "url": "https://www.ensembl.org/id/ENSP00000387000.3" } ] } }, { "isoform_ac": "Q53RD9-3", "url": "", "sequence": { "sequence": "MKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 382, "header": "sp|Q53RD9-3|FBLN7_HUMAN Isoform 3 of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "locus": {} }, { "isoform_ac": "Q53RD9-4", "url": "", "sequence": { "sequence": "MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 305, "header": "sp|Q53RD9-4|FBLN7_HUMAN Isoform 4 of Fibulin-7 OS=Homo sapiens OX=9606 GN=FBLN7 PE=2 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187503, "end_pos": 112138656, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409667.7", "url": "https://www.ensembl.org/id/ENST00000409667.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000386822.3", "url": "https://www.ensembl.org/id/ENSP00000386822.3" } ] } }, { "isoform_ac": "Q8IY13-1", "url": "", "sequence": { "sequence": "AGSARTLGTARGGHGAGKGLSPTALLPARVASCARSQKAWPLCIIDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF", "length": 261, "header": "tr|Q8IY13-1|Q8IY13_HUMAN Computationally mapped isoform of FBLN7 protein OS=Homo sapiens OX=9606 GN=FBLN7 PE=1 SV=1 CANONICAL=Q53RD9-1" }, "locus": { "chromosome": "2", "start_pos": 112187503, "end_pos": 112181883, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272559.4", "url": "https://www.ensembl.org/id/ENST00000272559.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000272559.4", "url": "https://www.ensembl.org/id/ENSP00000272559.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "1246", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1246" }, { "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": "N-linked (GlcNAc...) asparagine", "start_pos": 124, "start_aa": "Asn", "end_pos": 124, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn124", "evidence": [ { "id": "Q53RD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53RD9#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "CQHQAQTAAPEGSVAGDSAFSR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 171, "start_aa": "Cys", "end_pos": 192, "end_aa": "Arg", "evidence": [ { "id": "Q53RD9", "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": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 177, "start_aa": "Thr", "end_pos": 177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr177", "evidence": [ { "id": "Q53RD9", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "start_pos": 250, "start_aa": "Ser", "end_pos": 250, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser250", "evidence": [ { "id": "PRU00076", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00076" }, { "id": "GLY_000716", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000716" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "O-glucosylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-glucosylation", "start_pos": 293, "start_aa": "Ser", "end_pos": 293, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser293", "evidence": [ { "id": "PRU00076", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00076" }, { "id": "GLY_000716", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000716" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 307, "start_aa": "Asn", "end_pos": 307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn307", "evidence": [ { "id": "Q53RD9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q53RD9#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "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": "Q53RD9", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland.", "journal": "Scandinavian journal of rheumatology", "date": "2009", "authors": "Lisi S, D'Amore M, Scagliusi P, Mitolo V, Sisto M", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "19229767", "url": "https://glygen.org/publication/PubMed/19229767" } ] }, { "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": "Q53RD9", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "A C-terminal fragment of fibulin-7 interacts with endothelial cells and inhibits their tube formation in culture.", "journal": "Archives of biochemistry and biophysics", "date": "2014", "authors": "de Vega S, Suzuki N, Nonaka R, Sasaki T, Forcinito P, Arikawa-Hirasawa E, Yamada Y", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "24480309", "url": "https://glygen.org/publication/PubMed/24480309" } ] }, { "title": "Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.", "journal": "Human molecular genetics", "date": "2014", "authors": "Russell MW, Raeker MO, Geisler SB, Thomas PE, Simmons TA, Bernat JA, Thorsson T, Innis JW", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "24694933", "url": "https://glygen.org/publication/PubMed/24694933" } ] }, { "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": "GlyConnect", "id": "1246", "url": "https://glyconnect.expasy.org/browser/proteins/1246" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "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": "Q53RD9", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Fibulin-7 is overexpressed in glioblastomas and modulates glioblastoma neovascularization through interaction with angiopoietin-1.", "journal": "International journal of cancer", "date": "2019", "authors": "de Vega S, Kondo A, Suzuki M, Arai H, Jiapaer S, Sabit H, Nakada M, Ikeuchi T, Ishijima M, Arikawa-Hirasawa E, Yamada Y, Okada Y", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "30924128", "url": "https://glygen.org/publication/PubMed/30924128" } ] }, { "title": "Possible role of differentially expressing novel protein markers (ligatin and fibulin-7) in human aqueous humor and trabecular meshwork tissue in glaucoma progression.", "journal": "Cell biology international", "date": "2019", "authors": "Basu K, Maurya N, Kaur J, Saxena R, Gupta V, Sihota R, Ghosh I", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "30958601", "url": "https://glygen.org/publication/PubMed/30958601" } ] }, { "title": "Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.", "journal": "American journal of medical genetics. Part A", "date": "2020", "authors": "Velasco HM, Ullah E, Martin AM, Hufnagel RB, Prada CE", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "32783359", "url": "https://glygen.org/publication/PubMed/32783359" } ] }, { "title": "Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.", "journal": "Journal of cellular physiology", "date": "2022-11-12", "authors": "Sugiura Hidekazu, Tsunezumi Jun, Yanagisawa Hiromi, Futaya Mayuko, Nitta Kosaku, Tsuchiya Ken", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "36370444", "url": "https://glygen.org/publication/PubMed/36370444" } ] }, { "title": "Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.", "journal": "Advanced science (Weinheim, Baden-Wurttemberg, Germany)", "date": "2023-08", "authors": "Zheng Xuehui, Liu Lingxin, Liu Jing, Zhang Chen, Zhang Jie, Qi Yan, Xie Lin, Zhang Chunmei, Yao Guoqing, Bu Peili", "evidence": [ { "database": "RefSeq", "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637" } ], "reference": [ { "type": "PubMed", "id": "37344348", "url": "https://glygen.org/publication/PubMed/37344348" } ] } ], "pathway": [ { "id": "hsa:129804", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:129804", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q501P1-1", "protein_name": "Fibulin-7", "gene_name": "Fbln7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGPGSQRALFLLLLLLASPGARAFQSCLNKQQLLTTIRQLQQLLKGQETRFTEGIRNMKSRLAALQNTVNKMTPDAPPVSCPALEAPPDGKKFGSKYLVDHEVYFTCNPGFQLVGPSSVVCLANGSWTGEQPRCRDISECSSQPCHNGGTCVEGINHYRCICPPGKTGNRCQHQTQAAAPDGGEAGDPAFSRAPRCAQVEREQHCSCEAGFHLSSTTGGHSVCQDVNECEIYGQKGRPRLCMHACVNTPGSYRCTCPSGYRILADGKSCEDVDECAGPQHMCPRGTTCINTGGGFQCVNPECPEGSGNISYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSKLKTPITLFRMATASIPGHPGPNSLRFGIVGGNSRGHFVMQRSDRQTGELILTQTLEGPQTLEVDVDMSEYLERSFQANHVSKVTIFVSRYDF", "length": 440 }, "evidence": [ { "id": "45241245", "url": "http://www.informatics.jax.org/homology/45241245", "database": "MGI" }, { "id": "Q53RD9", "url": "https://omabrowser.org/oma/group/Q53RD9/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" }, { "name": "heparan sulfate proteoglycan binding", "id": "GO:0043395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043395", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cellular anatomical entity", "id": "GO:0110165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110165", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q53RD9", "url": "https://www.uniprot.org/uniprot/Q53RD9" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "fibulin-7 O-glycosylated 1 (human)", "definition": "A fibulin-7 (human) that has been O-glycosylated at the residue equivalent to Thr-177 of the amino acid sequence represented by UniProtKB:Q53RD9-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q53RD9-1, Thr-177, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000057356", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057356" } ] } ], "site_annotation": [ { "start_pos": 124, "end_pos": 126, "annotation": "n_glycosylation_sequon" }, { "start_pos": 307, "end_pos": 309, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }