{ "uniprot_canonical_ac": "P82198-1", "uniprot_ac": "P82198", "uniprot_id": "BGH3_MOUSE", "mass": { "chemical_mass": 74597.0, "monoisotopic_mass": 74597.0 }, "refseq": { "ac": "NP_033395", "name": "transforming growth factor-beta-induced protein ig-h3 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" }, "gene_names": [ { "name": "Tgfbi", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P82198", "id": "P82198" }, { "name": "68kDa; Beta-ig; big-h3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395", "id": "NP_033395" }, { "name": "Tgfbi", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395", "id": "NP_033395" } ], "protein_names": [ { "name": "Transforming growth factor-beta-induced protein ig-h3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P82198" }, { "name": "Beta ig-h3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P82198" }, { "name": "transforming growth factor-beta-induced protein ig-h3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395", "id": "NP_033395" }, { "name": "transforming growth factor-beta-induced protein ig-h3; transforming growth factor, beta induced, 68 kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395", "id": "NP_033395" } ], "function": [ { "annotation": "Betaig-h3 bears alphavbeta3 integrin-interacting motifs that mediate endothelial cell adhesion and migration and angiogenesis", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" }, { "database": "PubMed", "id": "12704192", "url": "https://glygen.org/publication/PubMed/12704192" } ] }, { "annotation": "Deficiency for scavenger receptors Stabilin-1 and Stabilin-2 leads to age-dependent renal and hepatic depositions of fasciclin domain proteins TGFBI and Periostin in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" }, { "database": "PubMed", "id": "37357460", "url": "https://glygen.org/publication/PubMed/37357460" } ] }, { "annotation": "Plays a role in cell adhesion (PubMed:8024701). May play a role in cell-collagen interactions (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198#function" }, { "database": "UniProtKB", "id": "O11780", "url": "https://www.uniprot.org/uniprot/O11780#function" }, { "database": "PubMed", "id": "8024701", "url": "https://glygen.org/publication/PubMed/8024701" } ] }, { "annotation": "TGFBI remodels adipose metabolism by regulating the Notch-1 signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" }, { "database": "PubMed", "id": "36854775", "url": "https://glygen.org/publication/PubMed/36854775" } ] } ], "disease": [ { "disease_id": "DOID:0060444", "recommended_name": { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "granular corneal dystrophy 2", "description": "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface." }, "synonyms": [ { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "CGD2", "description": "" }, { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "avellino corneal dystrophy", "description": "" }, { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "combined granular-lattice corneal dystrophy", "description": "" }, { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "corneal dystrophy, Avellino type", "description": "" }, { "id": "DOID:0060444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060444", "name": "granular corneal dystrophy type 2", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular corneal dystrophy type II", "description": "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "Avellino corneal dystrophy", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "CGD2", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "GCD2", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "GCDII", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "avellino corneal dystrophy", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "combined granular-lattice corneal dystrophy", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular corneal dystrophy type 2", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular-lattice corneal dystrophy", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "ACD", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "CDA", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "combined granular-lattice corneal dystrophies", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "corneal dystrophy Avellino type", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "corneal dystrophy, AVELLINO type", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular and lattice corneal dystrophies", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular corneal dystrophy, type 2", "description": "" }, { "id": "MONDO:0011855", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011855", "name": "granular-lattice (Avellino) corneal dystrophy", "description": "" }, { "id": "MIM:607541", "resource": "MIM", "url": "https://www.omim.org/entry/607541", "name": "Corneal dystrophy, Avellino type", "description": "Corneal dystrophy, Avellino type" } ], "evidence": [ { "id": "0060444", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060444" } ] }, { "disease_id": "DOID:0060447", "recommended_name": { "id": "DOID:0060447", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060447", "name": "epithelial basement membrane dystrophy", "description": "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium." }, "synonyms": [ { "id": "DOID:0060447", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060447", "name": "Cogan corneal dystrophy", "description": "" }, { "id": "DOID:0060447", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060447", "name": "EBMD", "description": "" }, { "id": "DOID:0060447", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060447", "name": "microcystic corneal dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "epithelial basement membrane dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "Cogan corneal dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "Cogan microcystic epithelial dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "EBMD", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "Map-dot-fingerprint dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "anterior basement membrane dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "microcystic corneal dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "Map-dot-fingerprint dystrophy of cornea", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "corneal dystrophy, Map-Dot-Fingerprint type", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "corneal dystrophy, anterior basement Membrane", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "corneal dystrophy, epithelial basement MEMBRANE", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "corneal dystrophy, microcystic", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "epithelial basement membrane corneal dystrophy", "description": "" }, { "id": "MONDO:0007375", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007375", "name": "microcystic dystrophy of the cornea", "description": "" }, { "id": "MIM:121820", "resource": "MIM", "url": "https://www.omim.org/entry/121820", "name": "Corneal dystrophy, epithelial basement membrane", "description": "Corneal dystrophy, epithelial basement membrane" } ], "evidence": [ { "id": "0060447", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060447" } ] }, { "disease_id": "DOID:0060453", "recommended_name": { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "Reis-Bucklers corneal dystrophy", "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea." }, "synonyms": [ { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "RBCD", "description": "" }, { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "anterior limiting membrane dystrophy type I", "description": "" }, { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "corneal dystrophy of Bowman layer type I", "description": "" }, { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "geographic corneal dystrophy", "description": "" }, { "id": "DOID:0060453", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060453", "name": "granular corneal dystrophy type III", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "Reis-Bucklers corneal dystrophy", "description": "Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "RBCD", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "Reis-Bucklers corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "anterior limiting membrane dystrophy type 1", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "anterior limiting membrane dystrophy type I", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "atypical granular corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy of Bowman layer type 1", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy of Bowman layer type I", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "geographic corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "granular corneal dystrophy type 3", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "granular corneal dystrophy type III", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "superficial granular corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "CDB1", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "CDRB", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "Reis Bucklers corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "Reis Bucklers dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "Reis-Bcklers corneal dystrophy", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy Reis Bucklers type", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy geographic", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy of Bowman Layer, type 1", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy, REIS-Bucklers type", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "corneal dystrophy, geographic", "description": "" }, { "id": "MONDO:0012043", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012043", "name": "granular corneal dystrophy, type 3", "description": "" }, { "id": "MIM:608470", "resource": "MIM", "url": "https://www.omim.org/entry/608470", "name": "Corneal dystrophy, Reis-Bucklers type", "description": "Corneal dystrophy, Reis-Bucklers type" } ], "evidence": [ { "id": "0060453", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060453" } ] }, { "disease_id": "DOID:0060455", "recommended_name": { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "Thiel-Behnke corneal dystrophy", "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea." }, "synonyms": [ { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "TBCD", "description": "" }, { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "Waardenburg-Jonker corneal dystrophy", "description": "" }, { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "anterior limiting membrane dystrophy type II", "description": "" }, { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "corneal dystrophy honeycomb-shaped", "description": "" }, { "id": "DOID:0060455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060455", "name": "corneal dystrophy of Bowman layer type II", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "Thiel-Behnke corneal dystrophy", "description": "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "TBCD", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "Thiel-Behnke corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "Waardenburg-Jonker corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "anterior limiting membrane dystrophy type 2", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "anterior limiting membrane dystrophy type II", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy honeycomb-shaped", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy of Bowman layer type 2", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy of Bowman layer type II", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "curly fiber corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "curly fibre corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "honeycomb corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "CDB2", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "CDTB", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "Thiel Behnke corneal dystrophy", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy Thiel Behnke type", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy honeycomb shaped", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy of Bowman Layer, type 2", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy of the Bowman layer type 2", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy, Thiel-Behnke type", "description": "" }, { "id": "MONDO:0011185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011185", "name": "corneal dystrophy, honeycomb-Shaped", "description": "" }, { "id": "MIM:602082", "resource": "MIM", "url": "https://www.omim.org/entry/602082", "name": "Corneal dystrophy, Thiel-Behnke type", "description": "Corneal dystrophy, Thiel-Behnke type" } ], "evidence": [ { "id": "0060455", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060455" } ] }, { "disease_id": "DOID:0080530", "recommended_name": { "id": "DOID:0080530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080530", "name": "granular corneal dystrophy 1", "description": "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface." }, "synonyms": [ { "id": "DOID:0080530", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080530", "name": "corneal dystrophy, Groenouw type I", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "granular corneal dystrophy type I", "description": "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "GCD1", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "GCDI", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "classic GCD", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "classic granular corneal dystrophy", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy Groenouw type I", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "granular corneal dystrophy type 1", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "CDGG1", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "Groenouw type I corneal dystrophy", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy granular type", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy punctate or nodular", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy, Groenouw type 1", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy, Groenouw type I", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "corneal dystrophy, punctate or nodular", "description": "" }, { "id": "MONDO:0007377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007377", "name": "granular corneal dystrophy, type 1", "description": "" }, { "id": "MIM:121900", "resource": "MIM", "url": "https://www.omim.org/entry/121900", "name": "Corneal dystrophy, Groenouw type 1", "description": "Corneal dystrophy, Groenouw type 1" } ], "evidence": [ { "id": "0080530", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080530" } ] }, { "disease_id": "DOID:2566", "recommended_name": { "id": "DOID:2566", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2566", "name": "corneal dystrophy", "description": "" }, "synonyms": [], "evidence": [ { "id": "2566", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2566" } ] }, { "disease_id": "DOID:557", "recommended_name": { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney." }, "synonyms": [ { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "impaired renal function disease", "description": "" }, { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "nephropathy", "description": "" } ], "evidence": [ { "id": "557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:557" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Tgfbi", "url": "https://www.uniprot.org/uniprot/P82198", "locus": { "chromosome": "13", "start_pos": 56787375, "end_pos": 56757336, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000035493", "url": "https://www.ensembl.org/id/ENSMUSG00000035493" } ] } } ], "crossref": [ { "id": "ENSMUSG00000035493", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000035493", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "21810", "url": "https://www.ncbi.nlm.nih.gov/gene/21810", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000782", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000782", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011489", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011489", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016666", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016666", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036378", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036378", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:21810", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:21810", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "99959", "url": "http://www.informatics.jax.org/marker/MGI:99959", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "GTPHIDA", "url": "https://omabrowser.org/oma/group/GTPHIDA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "523796at2759", "url": "http://www.orthodb.org/?query=523796at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10900", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10900", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10900:SF82", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10900:SF82", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02469", "url": "http://pfam.xfam.org/family/PF02469", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P82198", "url": "http://purl.obolibrary.org/obo/PR_P82198", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P82198-1", "url": "https://www.uniprot.org/uniprot/P82198-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3UXJ2", "url": "https://www.uniprot.org/uniprot/Q3UXJ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q3UXJ2-1", "url": "https://www.uniprot.org/uniprot/Q3UXJ2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALLMRLLTLALALSVGPAGTLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNKKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETMGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWSSLPAEVLDSLVSNVNIELLNALRYHMVDRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTVLEGDGQFTLLAPTNEAFEKIPAETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGMSMETLGGTTLEVGCSGDKLTINGKAVISNKDILATNGVIHFIDELLIPDSAKTLLELAGESDVSTAIDILKQAGLDTHLSGKEQLTFLAPLNSVFKDGVPRIDAQMKTLLLNHMVKEQLASKYLYSGQTLDTLGGKKLRVFVYRNSLCIENSCIAAHDKRGRFGTLFTMDRMLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLMEILNREGVYTVFAPTNEAFQAMPPEELNKLLANAKELTNILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSSKNNVVSVNKEPVAETDIMATNGVVYAINTVLQPPANRPQERGDELADSALEIFKQASAYSRAAQRSVRLAPVYQRLLERMKH", "length": 683, "header": "sp|P82198-1|BGH3_MOUSE Isoform 1 of Transforming growth factor-beta-induced protein ig-h3 OS=Mus musculus OX=10090 GN=Tgfbi PE=1 SV=1 CANONICAL=P82198-1" }, "isoforms": [ { "isoform_ac": "P82198-1", "url": "", "sequence": { "sequence": "MALLMRLLTLALALSVGPAGTLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNKKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETMGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWSSLPAEVLDSLVSNVNIELLNALRYHMVDRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTVLEGDGQFTLLAPTNEAFEKIPAETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGMSMETLGGTTLEVGCSGDKLTINGKAVISNKDILATNGVIHFIDELLIPDSAKTLLELAGESDVSTAIDILKQAGLDTHLSGKEQLTFLAPLNSVFKDGVPRIDAQMKTLLLNHMVKEQLASKYLYSGQTLDTLGGKKLRVFVYRNSLCIENSCIAAHDKRGRFGTLFTMDRMLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLMEILNREGVYTVFAPTNEAFQAMPPEELNKLLANAKELTNILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSSKNNVVSVNKEPVAETDIMATNGVVYAINTVLQPPANRPQERGDELADSALEIFKQASAYSRAAQRSVRLAPVYQRLLERMKH", "length": 683, "header": "sp|P82198-1|BGH3_MOUSE Isoform 1 of Transforming growth factor-beta-induced protein ig-h3 OS=Mus musculus OX=10090 GN=Tgfbi PE=1 SV=1 CANONICAL=P82198-1" }, "locus": { "chromosome": "13", "start_pos": 56786567, "end_pos": 56757460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000045173", "url": "https://www.ensembl.org/id/ENSMUST00000045173" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000037719", "url": "https://www.ensembl.org/id/ENSMUSP00000037719" } ] } }, { "isoform_ac": "Q3UXJ2-1", "url": "", "sequence": { "sequence": "MALLMRLLTLALALSVGPAGTLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNKKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETMGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWSSLPAEVLDSLVSNVNIELLNALRYHMVDRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTVLEGDGQFTLLAPTNEAFEKIPAETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGMSMETLGGTTLEVGCSGDKLTINGKAVISNKDILATNGVIHFIDELLIPDSAKTLLELAGESDVSTAIDILKQAGLDTHLSGKEQLTFLAPLNSVFKDGVPRIDAQMKTLLLNHMVKEQLASKYLYSGQTLDTLGGKKLRVFVYRNSLCIENSCIAAHDKRGRFGTLFTMDRMLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLMEILNREGVYTVFAPTNEAFQAMPPEELNKLLANAKELTNILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSSKNNVVSVNKEPVAETDIMATNGVVYAINTVLQPPGCFSFLSSQPTTRTRR", "length": 651, "header": "tr|Q3UXJ2-1|BGH3_MOUSE Computationally mapped isoform of Transforming growth factor-beta-induced protein ig-h3 OS=Mus musculus OX=10090 GN=Tgfbi PE=1 SV=1 CANONICAL=P82198-1" }, "locus": { "chromosome": "13", "start_pos": 56784975, "end_pos": 56757460, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000225600.2", "url": "https://www.ensembl.org/id/ENSMUST00000225600.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000153546.2", "url": "https://www.ensembl.org/id/ENSMUSP00000153546.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 37, "end_pos": 37, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "site_lbl": "Ser37" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of the alphavbeta3 integrin-interacting motif of betaig-h3 and its anti-angiogenic effect.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Nam JO, Kim JE, Jeong HW, Lee SJ, Lee BH, Choi JY, Park RW, Park JY, Kim IS", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" } ], "reference": [ { "type": "PubMed", "id": "12704192", "url": "https://glygen.org/publication/PubMed/12704192" } ] }, { "title": "TGFBI remodels adipose metabolism by regulating the Notch-1 signaling pathway.", "journal": "Experimental & molecular medicine", "date": "2023-03", "authors": "Lee Seul Gi, Chae Jongbeom, Woo Seon Min, Seo Seung Un, Kim Ha-Jeong, Kim Sang-Yeob, Schlaepfer David D, Kim In-San, Park Hee-Sae, Kwon Taeg Kyu, Nam Ju-Ock", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" } ], "reference": [ { "type": "PubMed", "id": "36854775", "url": "https://glygen.org/publication/PubMed/36854775" } ] }, { "title": "Deficiency for scavenger receptors Stabilin-1 and Stabilin-2 leads to age-dependent renal and hepatic depositions of fasciclin domain proteins TGFBI and Periostin in mice.", "journal": "Aging cell", "date": "2023-09", "authors": "Leibing Thomas, Riedel Anna, Xi Yannick, Adrian Monica, Krzistetzko Jessica, Kirkamm Christof, Dormann Christof, Schledzewski Kai, Goerdt Sergij, G\u00e9raud Cyrill", "evidence": [ { "database": "RefSeq", "id": "NP_033395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_033395" } ], "reference": [ { "type": "PubMed", "id": "37357460", "url": "https://glygen.org/publication/PubMed/37357460" } ] }, { "title": "Beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice.", "journal": "DNA Cell Biol.", "date": "1994", "authors": "Skonier J, Bennett K, Rothwell V, Kosowski S, Plowman G, Wallace P, Edelhoff S, Disteche C, Neubauer M, Marquardt H, et al.", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "reference": [ { "type": "PubMed", "id": "8024701", "url": "https://glygen.org/publication/PubMed/8024701" } ] } ], "pathway": [ { "id": "mmu:21810", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:21810", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q15582-1", "protein_name": "Transforming growth factor-beta-induced protein ig-h3", "gene_name": "TGFBI", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRKYFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQLYTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRVLTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTITNNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDPEALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILATNGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVFKDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIAAHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVFAPTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVSLKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAFSRASQRSVRLAPVYQKLLERMKH", "length": 683 }, "evidence": [ { "id": "45225366", "url": "http://www.informatics.jax.org/homology/45225366", "database": "MGI" }, { "id": "P82198", "url": "https://omabrowser.org/oma/group/P82198/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "localization", "id": "GO:0051179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051179", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Gamma-carboxylation is controversial. Gamma-carboxyglutamated; gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation; this may be required for calcium binding. According to a more recent report, does not contain vitamin K-dependent gamma-carboxyglutamate residues.", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" }, { "database": "PubMed", "id": "Q15582", "url": "https://glygen.org/publication/PubMed/Q15582" } ] }, { "annotation": "The EMI domain contains 2 expected intradomain disulfide bridges (Cys-49-Cys85 and Cys-84-Cys-97) and one unusual interdomain disulfide bridge to the second FAS1 domain (Cys-74-Cys-339). This arrangement violates the predicted disulfide bridge pattern of an EMI domain.", "evidence": [ { "database": "UniProtKB", "id": "P82198", "url": "https://www.uniprot.org/uniprot/P82198" }, { "database": "PubMed", "id": "Q15582", "url": "https://glygen.org/publication/PubMed/Q15582" } ] } ], "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": 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": "glycosylation_reported", "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": "glycosylation_reported_with_glycan", "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": "glycosylation_predicted", "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": "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }