{ "uniprot_canonical_ac": "O60494-1", "uniprot_ac": "O60494", "uniprot_id": "CUBN_HUMAN", "mass": { "chemical_mass": 398736.0, "monoisotopic_mass": 398736.0 }, "refseq": { "ac": "NP_001072", "name": "cubilin precursor", "summary": "Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, "gene_names": [ { "name": "CUBN", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60494", "id": "O60494" }, { "name": "CUBN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072", "id": "NP_001072" }, { "name": "IFCR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60494", "id": "O60494" }, { "name": "gp280; IFCR; IGS; IGS1; MGA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072", "id": "NP_001072" } ], "protein_names": [ { "name": "Cubilin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60494" }, { "name": "460 kDa receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60494" }, { "name": "Intestinal intrinsic factor receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60494" }, { "name": "Intrinsic factor-cobalamin receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60494" }, { "name": "Intrinsic factor-vitamin B12 receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60494" }, { "name": "cubilin (intrinsic factor-cobalamin receptor); intrinsic factor-vitamin B12 receptor; 460 kDa receptor; intestinal intrinsic factor receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072", "id": "NP_001072" }, { "name": "cubilin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072", "id": "NP_001072" } ], "function": [ { "annotation": "Clinical and genetic characterization of children with cubilin variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, { "database": "PubMed", "id": "36112210", "url": "https://glygen.org/publication/PubMed/36112210" } ] }, { "annotation": "Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ] }, { "annotation": "Cubilin, the intrinsic factor-vitamin B12 receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, { "database": "PubMed", "id": "35337634", "url": "https://glygen.org/publication/PubMed/35337634" } ] }, { "annotation": "Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:9572993, PubMed:10371504, PubMed:11717447, PubMed:11606717, PubMed:14576052). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:9572993, PubMed:14576052). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the CBLIF-cobalamin complex. Ligand binding requires calcium (PubMed:9572993). Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. May play an important role in the development of the peri-implantation embryo through internalization of APOA1 and cholesterol. Binds to LGALS3 at the maternal-fetal interface.", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494#function" }, { "database": "PubMed", "id": "11606717", "url": "https://glygen.org/publication/PubMed/11606717" }, { "database": "PubMed", "id": "9572993", "url": "https://glygen.org/publication/PubMed/9572993" }, { "database": "PubMed", "id": "10371504", "url": "https://glygen.org/publication/PubMed/10371504" }, { "database": "PubMed", "id": "14576052", "url": "https://glygen.org/publication/PubMed/14576052" }, { "database": "PubMed", "id": "11717447", "url": "https://glygen.org/publication/PubMed/11717447" } ] }, { "annotation": "Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, { "database": "PubMed", "id": "36926036", "url": "https://glygen.org/publication/PubMed/36926036" } ] }, { "annotation": "Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, { "database": "PubMed", "id": "37594671", "url": "https://glygen.org/publication/PubMed/37594671" } ] }, { "annotation": "Novel pathogenic variants in CUBN uncouple proteinuria from renal function. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" }, { "database": "PubMed", "id": "36266725", "url": "https://glygen.org/publication/PubMed/36266725" } ] } ], "disease": [ { "disease_id": "DOID:13382", "recommended_name": { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anemia", "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production." }, "synonyms": [ { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "Grasbeck-Imerslund syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "Imerslund-Grasbeck syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "MGA1 Norwegian type", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "RH-MGA1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anaemia", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anaemia 1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anemia 1", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "constitutional megaloblastic anemia with severe neurologic disease", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "DHFR deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anaemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", "description": "An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA-1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Mga1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte cobalamin malabsorption", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte intrinsic factor receptor, defect of", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anaemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, Finnish type", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria", "description": "" }, { "id": "MIM:613839", "resource": "MIM", "url": "https://www.omim.org/entry/613839", "name": "Megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "Megaloblastic anemia due to dihydrofolate reductase deficiency" }, { "id": "MIM:261100", "resource": "MIM", "url": "https://www.omim.org/entry/261100", "name": "Imerslund-Grasbeck syndrome 1", "description": "Imerslund-Grasbeck syndrome 1" } ], "evidence": [ { "id": "261100", "database": "MIM", "url": "https://www.omim.org/entry/261100" } ] }, { "disease_id": "MONDO:0030042", "recommended_name": { "id": "MONDO:0030042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030042", "name": "proteinuria, chronic benign", "description": "" }, "synonyms": [ { "id": "MONDO:0030042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030042", "name": "PROCHOB", "description": "" }, { "id": "MONDO:0030042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030042", "name": "PROTEINURIA, CHRONIC BENIGN", "description": "" }, { "id": "MONDO:0030042", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030042", "name": "proteinuria, chronic benign", "description": "" }, { "id": "MIM:618884", "resource": "MIM", "url": "https://www.omim.org/entry/618884", "name": "Proteinuria, chronic benign", "description": "Proteinuria, chronic benign" } ], "evidence": [ { "id": "618884", "database": "MIM", "url": "https://www.omim.org/entry/618884" } ] } ], "snv": [ { "evidence": [ { "id": "rs777351883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777351883" }, { "id": "rs777351883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777351883" }, { "id": "rs777351883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777351883" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1092, "end_pos": 1092, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->KFS).", "chr_id": "10", "chr_pos": "17047467", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1092", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1411474631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411474631" }, { "id": "rs1411474631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411474631" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1094, "end_pos": 1094, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFC).", "chr_id": "10", "chr_pos": "17047462", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1094", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs904940344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs904940344" }, { "id": "rs904940344", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs904940344" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1170, "end_pos": 1170, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "10", "chr_pos": "17045170", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1170", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752977269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752977269" }, { 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"sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "10", "chr_pos": "17041055", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1332", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:13382", "recommended_name": { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anemia", "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production." }, "synonyms": [ { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "Grasbeck-Imerslund syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "Imerslund-Grasbeck syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "MGA1 Norwegian type", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "RH-MGA1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anaemia", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anaemia 1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anemia 1", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "constitutional megaloblastic anemia with severe neurologic disease", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "DHFR deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anaemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", "description": "An autosomal recessive disorder characterized by onset of megaloblastic 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Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA-1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Mga1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte cobalamin malabsorption", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte intrinsic factor receptor, defect of", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anaemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, Finnish type", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria", "description": "" }, { "id": "MIM:613839", "resource": "MIM", "url": "https://www.omim.org/entry/613839", "name": "Megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "Megaloblastic anemia due to dihydrofolate reductase deficiency" }, { "id": "MIM:261100", "resource": "MIM", "url": "https://www.omim.org/entry/261100", "name": "Imerslund-Grasbeck syndrome 1", "description": "Imerslund-Grasbeck syndrome 1" } ] } ] }, { "evidence": [ { "id": "O60494", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60494" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1334, "end_pos": 1334, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->NCY).", "chr_id": "10", "chr_pos": "17041049", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1334", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - 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"Imerslund-Grasbeck syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "MGA1 Norwegian type", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "RH-MGA1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anaemia", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anaemia 1", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "recessive hereditary megaloblastic anemia 1", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "constitutional megaloblastic anemia with severe neurologic disease", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "DHFR deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anaemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", 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Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances." }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Imerslund-Grasbeck syndrome type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA-1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "MGA1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "Mga1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte cobalamin malabsorption", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "enterocyte intrinsic factor receptor, defect of", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anaemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic Anemia type 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, 1", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", "name": "megaloblastic anemia, Finnish type", "description": "" }, { "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171740040" }, { "id": "rs1171740040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171740040" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 3103, "end_pos": 3103, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->TTS).", "chr_id": "10", "chr_pos": "16869782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N3103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1306107723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1306107723" }, { "id": "rs1306107723", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1306107723#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 3105, "end_pos": 3105, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation 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"end_pos": 3358, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NPS).", "chr_id": "10", "chr_pos": "16836343", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A3358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140566726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140566726" }, { "id": "rs140566726", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140566726" }, { "id": "rs140566726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140566726" }, { "id": "rs140566726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140566726#frequency_tab" }, { "id": "rs140566726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140566726" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 3359, "end_pos": 3359, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NA*).", "chr_id": "10", "chr_pos": "16836339", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S3359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140566726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140566726" }, { "id": "rs140566726", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs140566726" }, { "id": "rs140566726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140566726" }, { "id": "rs140566726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140566726#frequency_tab" }, { "id": "rs140566726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140566726" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 3359, "end_pos": 3359, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAL).", "chr_id": "10", "chr_pos": "16836339", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S3359", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:13382", "recommended_name": { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "megaloblastic anemia", "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production." }, "synonyms": [ { "id": "DOID:13382", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13382", "name": "Grasbeck-Imerslund syndrome", "description": "" }, { "id": "DOID:13382", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0013456", "name": "constitutional megaloblastic anemia with severe neurologic disease", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "DHFR deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anaemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0013456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013456", "name": "megaloblastic anemia due to dihydrofolate reductase deficiency", "description": "" }, { "id": "MONDO:0100156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100156", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate 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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60494", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60494" } ], "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60494", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60494" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://www.uniprot.org/uniprot/H7C480-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60494-1", "url": "https://www.uniprot.org/uniprot/O60494-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQNIEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDLERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGEPKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNGYICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGCHPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKCDSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSGINGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSSSAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGSIKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPLLGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELFLPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCGNGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGERTCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFITSVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTWHILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSLMLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITVRTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLWLKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHGSAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLRTDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNYTFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREKGFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEYHSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFNASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQDSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQACGGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFVEILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGGTFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIREGNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTHGKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHARLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGGFLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIRDGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADRGIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPDICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGNVYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYLELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRVPGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDNHTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSIGTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNSPQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEGNFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDADGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVITSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPIIGQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPHWPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLATGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQYDNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCGDEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPNDMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPNVKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYDKNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGSTVPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPDVPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASAVPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKDCTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFSQNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWVLVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSNQVFIKFHADYARRPSAFRLTWDS", "length": 3623, "header": "sp|O60494-1|CUBN_HUMAN Isoform 1 of Cubilin OS=Homo sapiens OX=9606 GN=CUBN PE=1 SV=5 CANONICAL=O60494-1" }, "isoforms": [ { "isoform_ac": "H7C480-1", "url": "", "sequence": { "sequence": "NSKLVDLERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYRNPCSNIPKEPEEGSRDWHRE", "length": 105, "header": "tr|H7C480-1|CUBN_HUMAN Computationally mapped isoform of Cubilin OS=Homo sapiens OX=9606 GN=CUBN PE=1 SV=1 CANONICAL=O60494-1" }, "locus": { "chromosome": "10", "start_pos": 17127837, "end_pos": 17122525, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433666.5", "url": "https://www.ensembl.org/id/ENST00000433666.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415970.1", "url": "https://www.ensembl.org/id/ENSP00000415970.1" } ] } }, { "isoform_ac": "O60494-1", "url": "", "sequence": { "sequence": "MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQNIEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDLERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGTPLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGEPKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNGYICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGCHPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKCDSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSGINGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSSSAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGSIKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPLLGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELFLPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCGNGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGERTCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFITSVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTWHILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSLMLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITVRTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLWLKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHGSAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLRTDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNYTFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREKGFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEYHSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFNASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQDSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQACGGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFVEILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGGTFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIREGNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTHGKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHARLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGGFLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIRDGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADRGIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPDICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGNVYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYLELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRVPGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDNHTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSIGTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNSPQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEGNFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDADGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVITSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPIIGQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPHWPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLATGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQYDNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCGDEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPNDMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPNVKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYDKNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGSTVPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPDVPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASAVPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKDCTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFSQNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWVLVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSNQVFIKFHADYARRPSAFRLTWDS", "length": 3623, "header": "sp|O60494-1|CUBN_HUMAN Isoform 1 of Cubilin OS=Homo sapiens OX=9606 GN=CUBN PE=1 SV=5 CANONICAL=O60494-1" }, "locus": { "chromosome": "10", "start_pos": 17129765, "end_pos": 16824978, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377833.10", "url": "https://www.ensembl.org/id/ENST00000377833.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000367064.4", "url": "https://www.ensembl.org/id/ENSP00000367064.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1092, "start_aa": "Asn", "end_pos": 1092, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1092", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1168, "start_aa": "Asn", "end_pos": 1168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1168", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1217, "start_aa": "Asn", "end_pos": 1217, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1217", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1285, "start_aa": "Asn", "end_pos": 1285, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1285", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1307, "start_aa": "Asn", "end_pos": 1307, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1307", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1319, "start_aa": "Asn", "end_pos": 1319, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1319", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1332, "start_aa": "Asn", "end_pos": 1332, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1332", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" }, { "id": "20237569", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20237569" }, { "id": "3KQ4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KQ4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1500, "start_aa": "Asn", "end_pos": 1500, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1500", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1551, "start_aa": "Asn", "end_pos": 1551, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1551", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1646, "start_aa": "Asn", "end_pos": 1646, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1646", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1802, "start_aa": "Asn", "end_pos": 1802, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1802", "evidence": [ { "id": "O60494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60494#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1819, 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"https://glygen.org/publication/PubMed/31613795" } ] }, { "title": "The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.", "journal": "The Journal of biological chemistry", "date": "2021", "authors": "Kitai K, Kawaguchi K, Tomohiro T, Morita M, So T, Imanaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "33845046", "url": "https://glygen.org/publication/PubMed/33845046" } ] }, { "title": "Cubilin, the intrinsic factor-vitamin B12 receptor.", "journal": "Vitamins and hormones", "date": "2022", "authors": "Kozyraki R, Verroust P, Cases O", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ], "reference": [ { "type": "PubMed", "id": "35337634", "url": "https://glygen.org/publication/PubMed/35337634" } ] }, { "title": "Clinical and genetic characterization of children with cubilin variants.", "journal": "Pediatric nephrology (Berlin, Germany)", "date": "2022-09-16", "authors": "Cicek Neslihan, Alpay Harika, Guven Sercin, Alavanda Ceren, T\u00fcrkkan \u00d6zde Nisa, Pul Serim, Demirci Ece, Y\u0131ld\u0131z Nurdan, Ata P\u0131nar, Gokce Ibrahim", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ], "reference": [ { "type": "PubMed", "id": "36112210", "url": "https://glygen.org/publication/PubMed/36112210" } ] }, { "title": "Novel pathogenic variants in CUBN uncouple proteinuria from renal function.", "journal": "Journal of translational medicine", "date": "2022-10-20", "authors": "Gan Chun, Zhou Xindi, Chen Dan, Chi Huan, Qiu Jiawen, You Hui, Chen Yaxi, Wang Mo, Yang Haiping, Jiang Wei, Li Qiu", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ], "reference": [ { "type": "PubMed", "id": "36266725", "url": "https://glygen.org/publication/PubMed/36266725" } ] }, { "title": "Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Uglebjerg Nicoline, Ahmadizar Fariba, Aly Dina M, Ca\u00f1adas-Garre Marisa, Hill Claire, Naber Annemieke, Oddsson Asmundur, Singh Sunny S, Smyth Laura, Tr\u00e9gou\u00ebt David-Alexandre, Chaker Layal, Ghanbari Mohsen, Steinthorsdottir Valgerdur, Ahlqvist Emma, Hadjadj Samy, Van Hoek Mandy, Kavousi Maryam, McKnight Amy Jayne, Sijbrands Eric J, Stefansson Kari, Simons Matias, Rossing Peter, Ahluwalia Tarunveer S", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ], "reference": [ { "type": "PubMed", "id": "36926036", "url": "https://glygen.org/publication/PubMed/36926036" } ] }, { "title": "Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin?", "journal": "Journal of nephrology", "date": "2023-12", "authors": "Ceol Monica, Gianesello Lisa, Trimarchi Hernan, Migliorini Alberto, Priante Giovanna, Radu Claudia M, Naso Elena, Angelini Annalisa, Cal\u00f2 Lorenzo A, Anglani Franca, Del Prete Dorella", "evidence": [ { "database": "RefSeq", "id": "NP_001072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072" } ], "reference": [ { "type": "PubMed", "id": "37594671", "url": "https://glygen.org/publication/PubMed/37594671" } ] }, { "title": "Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.", "journal": "Science (New York, N.Y.)", "date": "1985", "authors": "Rosenblatt DS, Hosack A, Matiaszuk NV, Cooper BA, Laframboise R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758881", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758881" } ], "reference": [ { "type": "PubMed", "id": "4001945", "url": "https://glygen.org/publication/PubMed/4001945" } ] }, { "title": "Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Kounnas MZ, Loukinova EB, Stefansson S, Harmony JA, Brewer BH, Strickland DK, Argraves WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "7768901", "url": "https://glygen.org/publication/PubMed/7768901" } ] }, { "title": "Isolation and expression of human 1,25-dihydroxyvitamin D3 24-hydroxylase cDNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Chen KS, Prahl JM, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8506296", "url": "https://glygen.org/publication/PubMed/8506296" } ] }, { "title": "Human 25-hydroxyvitamin D3-24-hydroxylase, a multicatalytic enzyme.", "journal": "Biochemistry", "date": "1996", "authors": "Beckman MJ, Tadikonda P, Werner E, Prahl J, Yamada S, DeLuca HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8679605", "url": "https://glygen.org/publication/PubMed/8679605" } ] }, { "title": "Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Hjalm G, Murray E, Crumley G, Harazim W, Lundgren S, Onyango I, Ek B, Larsson M, Juhlin C, Hellman P, Davis H, Akerstrom G, Rask L, Morse B", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "8706697", "url": "https://glygen.org/publication/PubMed/8706697" } ] }, { "title": "Characterization of CLA-1, a human homologue of rodent scavenger receptor BI, as a receptor for high density lipoprotein and apoptotic thymocytes.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Murao K, Terpstra V, Green SR, Kondratenko N, Steinberg D, Quehenberger O", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964011", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964011" } ], "reference": [ { "type": "PubMed", "id": "9211901", "url": "https://glygen.org/publication/PubMed/9211901" } ] }, { "title": "The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.", "journal": "Blood", "date": "1998", "authors": "Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "reference": [ { "type": "PubMed", "id": "9572993", "url": "https://glygen.org/publication/PubMed/9572993" } ] }, { "title": "Autocatalytic activation of human legumain at aspartic acid residues.", "journal": "FEBS letters", "date": "1998", "authors": "Halfon S, Patel S, Vega F, Zurawski S, Zurawski G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196791" } ], "reference": [ { "type": "PubMed", "id": "9821970", "url": "https://glygen.org/publication/PubMed/9821970" } ] } ], "pathway": [ { "id": "hsa:8029", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8029", "resource": "KEGG Pathway" }, { "id": "R-HSA-196791", "name": "Vitamin D (calciferol) metabolism", "url": 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"protein_name": "Cubilin", "gene_name": "Cubn", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSSQFLWGFVTLLMIAELDGKTGKPEQRGQKRIADLHQPRMTTEEGNLVFLTSSTQNIEFRTGSLGKIKLNDEDLGECLHQIQRNKDDIIDLRKNTTGLPQNILSQVHQLNSKLVDLERDFQNLQQNVERKVCSSNPCLNGGTCVNLHDSFVCICPSQWKGLFCSEDVNECVVYSGTPFGCQSGSTCVNTVGSFRCDCTPDTYGPQCASKYNDCEQGSKQLCKHGICEDLQRVHHGQPNFHCICDAGWTTPPNGISCTEDKDECSLQPSPCSEHAQCFNTQGSFYCGACPKGWQGNGYECQDINECEINNGGCSQAPLVPCLNTPGSFSCGNCPAGFSGDGRVCTPVDICSIHNGGCHPEATCSSSPVLGSFLPVCTCPPGYTGNGYGSNGCVRLSNICSRHPCVNGQCIETVSSYFCKCDSGWSGQNCTENINDCSSNPCLNGGTCIDGINGFTCDCTSSWTGYYCQTPQAACGGILSGTQGTFAYHSPNDTYIHNVNCFWIVRTDEEKVLHVTFTFFDLESASNCPREYLQIHDGDSSADFPLGRYCGSRPPQGIHSSANALYFHLYSEYIRSGRGFTARWEAKLPECGGILTDNYGSITSPGYPGNYPPGRDCVWQVLVNPNSLITFTFGTLSLESHNDCSKDYLEIRDGPFHQDPVLGKFCTSLSTPPLKTTGPAARIHFHSDSETSDKGFHITYLTTQSDLDCGGNYTDTDGELLLPPLSGPFSHSRQCVYLITQAQGEQIVINFTHVELESQMGCSHTYIEVGDHDSLLRKICGNETLFPIRSVSNKVWIRLRIDALVQKASFRADYQVACGGMLRGEGFFRSPFYPNAYPGRRTCRWTISQPQRQVVLLNFTDFQIGSSASCDTDYIEIGPSSVLGSPGNEKFCSSNIPSFITSVYNILYVTFVKSSSMENRGFTAKFSSDKLECGEVLTASTGIIESPGHPNVYPRGVNCTWHVVVQRGQLIRLEFSSFYLEFHYNCTNDYLEIYDTAAQTFLGRYCGKSIPPSLTSNSNSIKLIFVSDSALAHEGFSINYEAIDASSVCLYDYTDNFGMLSSPNFPNNYPSNWECIYRITVGLNQQIALHFTDFTLEDYFGSQCVDFVEIRDGGYETSPLVGIYCGSVLPPTIISHSNKLWLKFKSDAALTAKGFSAYWDGSSTGCGGNLTTPTGVLTSPNYPMPYYHSSECYWRLEASHGSPFELEFQDFHLEHHPSCSLDYLAVFDGPTTNSRLIDKLCGDTTPAPIRSNKDVVLLKLRTDAGQQGRGFEINFRQRCDNVVIVNKTSGILESINYPNPYDKNQRCNWTIQATTGNTVNYTFLGFDVESYMNCSTDYVELYDGPQWMGRYCGNNMPPPGATTGSQLHVLFHTDGINSGEKGFKMQWFTHGCGGEMSGTAGSFSSPGYPNSYPHNKECIWNIRVAPGSSIQLTIHDFDVEYHTSCNYDSLEIYAGLDFNSPRIAQLCSQSPSANPMQVSSTGNELAIRFKTDSTLNGRGFNASWRAVPGGCGGIIQLSRGEIHSPNYPNNYRANTECSWIIQVERHHRVLLNITDFDLEAPDSCLRLMDGSSSTNARVASVCGRQQPPNSIIASGNSLFVRFRSGSSSQNRGFRAEFREECGGRIMTDSSDTIFSPLYPHNYLHNQNCSWIIEAQPPFNHITLSFTHFQLQNSTDCTRDFVEILDGNDYDAPVQGRYCGFSLPHPIISFGNALTVRFVTDSTRSFEGFRAIYSASTSSCGGSFYTLDGIFNSPDYPADYHPNAECVWNIASSPGNRLQLSFLSFNLENSLNCNKDFVEIREGNATGHLIGRYCGNSLPGNYSSAEGHSLWVRFVSDGSGTGMGFQARFKNIFGNNNIVGTHGKIASPFWPGKYPYNSNYKWVVNVDAYHIIHGRILEMDIEPTTNCFYDSLKIYDGFDTHSRLIGTYCGTQTESFSSSRNSLTFQFSSDSSVSGRGFLLEWFAVDVSDSTPPTIAPGACGGFMVTGDTPVHIFSPGWPREYANGADCIWIIYAPDSTVELNILSLDIEPQQSCNYDKLIVKDGDSDLSPELAVLCGVSPPGPIRSTGEYMYIRFTSDTSVAGTGFNASFHKSCGGYLHADRGVITSPKYPDTYLPNLNCSWHVLVQTGLTIAVHFEQPFQIQNRDSFCSQGDYLVLRNGPDNHSPPLGPSGRNGRFCGMYAPSTLFTSGNEMFVQFISDSSNGGQGFKIRYEAKSLACGGTVYIHDADSDGYLTSPNYPANYPQHAECIWILEAPPGRSIQLQFEDQFNIEDTPNCSVSYLELRDGANSNARLVSKLCGHTLPHSWVSSRERIYLKFHTDGGSSYMGFKAKYSIASCGGTVSGDSGVIESIGYPTLPYANNVFCQWFIRGLPGHYLTLSFEDFNLQSSPGCTKDFVEIWENHTSGRVLGRYCGNSTPSSVDTSSNVASVKFVTDGSVTASGFRLQFKSSRQVCGGDLHGPTGTFTSPNYPNPNPHARICEWTITVQEGRRIVLTFTNLRLSTQPSCNSEHLIVFNGIRSNSPLLQKLCSRVNVTNEFKSSGNTMKVVFFTDGSRPYGGFTASYTSTEDAVCGGFLPSVSGGNFSSPGYNGIRDYARNLDCEWTLSNPNRENSSISIYFLELSIESHQDCTFDVLEFRVGDADGPLIEKFCSLSAPTAPLVIPYPQVWIHFVSNERVEYTGFYIEYSFTDCGGIRTGDNGVISSPNYPNLYSAWTHCSWLLKAPEGHTITLTFSDFLLEAHPTCTSDSVTVRNGDSPGSPVIGRYCGQSVPRPIQSGSNQLIVTFNTNNQGQTRGFYATWTTNALGCGGTFHSANGTIKSPHWPQTFPENSRCSWTVITHESKHWEISFDSNFRIPSSDSQCQNSFVKVWEGRLMINKTLLATSCGDVAPSPIVTSGNIFTAVFQSEEMAAQGFSASFISRCGRTFNTSPGDIISPNFPKQYDNNMNCTYLIDADPQSLVILTFVSFHLEDRSAITGTCDHDGLHIIKGRNLSSTPLVTICGSETLRPLTVDGPVLLNFYSDAYTTDFGFKISYRAITCGGIYNESSGILRSPSYSYSNYPNNLYCVYSLHVRSSRVIIIRFNDFDVAPSNLCAHDFLEVFDGPSIGNRSLGKFCGSTRPQTVKSTNSSLTLLFKTDSSQTARGWKIFFRETIGPQQGCGGYLTEDNQSFVSPDSDSNGRYDKGLSCIWYIVAPENKLVKLTFNVFTLEGPSSAGSCVYDYVQIADGASINSYLGGKFCGSRMPAPFISSGNFLTFQFVSDVTVEMRGFNATYTFVDMPCGGTYNATSTPQNASSPHLSNIGRPYSTCTWVIAAPPQQQVQITVWDLQLPSQDCSQSYLELQDSVQTGGNRVTQFCGANYTTLPVFYSSMSTAVVVFKSGVLNRNSQVQFSYQIADCNREYNQTFGNLKSPGWPQNYDNNLDCTIILRAPQNHSISLFFYWFQLEDSRQCMNDFLEVRNGGSSTSPLLDKYCSNLLPNPVFSQSNELYLHFHSDHSVTNNGYEIIWTSSAAGCGGTLLGDEGIFTNPGFPDSYPNNTHCEWTIVAPSGRPVSVGFPFLSIDSSGGCDQNYLIVFNGPDANSPPFGPLCGINTGIAPFYASSNRVFIRFHAEYTTRLSGFEIMWSS", "length": 3623 }, "evidence": [ { "id": "45920452", "url": "http://www.informatics.jax.org/homology/45920452", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JLB4-1", "protein_name": "Cubilin", "gene_name": "Cubn", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASHFLWGFVTLLMVPGLDGETGTPEQKLQKRIADLHQPRMTTEEGNLVFLTSSAQNIEFRTGSLGKIKLNDDDLGECLHQIQRNKDDIIDLKRNTTGLPQNILSQVHQLNSKLVDLERDFQSLQQNVERKVCSSNPCHNGGTCVNLHDSFICICPSQWKGLFCSEDVNECVLYAGTPFGCQSGSTCVNTMGSFRCDCTPDTYGPQCASKYNDCEQGSQQLCKHGICEDLQRVYHGQLRFNCICDAGWTTLPNGISCTEDKDECSLQPSPCSEHAQCFNTQGSFYCGACPKGWQGNGYQCQDINECEINNGGCSQAPLVPCLNTPGSFTCGNCPAGFSGDGRVCTPLDICSIHNGGCHPDATCSSSSVLGSLLPVCTCPPGYTGNGYGSNGCVRLSNMCSRHPCVNGQCIETVSSYFCKCDSGWFGQNCTENINECVSNPCLNGGTCIDGVNGFTCDCTSSWTGYYCQTPQAACGGILSGTQGTFAYQSPNDTYVHNVNCFWVVRTDEEKVLHITFTFFDLESASNCPREYLQIHDGDSSADFPLGRYCGSTPPQGVHSSANSLYFHLYSEYIKRGRGFTARWEAKLPECGGILTGNYGSITSPGYPGNYPPGRDCVWNLLVSPGSLITFTFGTLSLESHNDCSKDYLEIRDGPFHHDPILGKFCTSLSTPPLQTTGPAARIHFHSDSETSDKGFHITYLTTPSDLYCGGNYTDTEGELLLPPLTGPFSHSRQCVYLISQPQGEQIVINFTHVELESQRGCSHTFIEVGDHESLLRKICGNETLFPIRSISNNVWIRLRIDALVQKASFRADYQVACGGELRGEGVIRSPFYPNAYAGRRTCRWTISQPPREVVLLNFTDFQIGSSSSCDTDYIEIGPSSVLGSPGNEKFCGTNIPSFITSVYNVLYVTFVKSSSMENRGFMAMFSSEKLECGKVLTESTGIIESPGHPNVYPSGVNCTWHIVVQRGQLIRLVFSSFYLEFHYNCANDYLEVYDTIAQTSLGRYCGKSIPPSLTSSSHSIKLIFVSDSALAHEGFSINYEAINASSVCLYDYTDNFGRLSSPNFPNNYPHNWNCVYRITVGLNQQIALHFTDFALEDYFGPKCVDFVEIRDGGFETSPLIGIYCGSVFPPRIISHSNKLWLRFKSDTALTARGFSAYWDASSTGCGGNLTTPTGVLTSPNYPMPYYHSSECYWRLEASRGSPFLLEFQDFHLEHHPNCSLDYLAVFDGPSTNSRLINKLCGDTPPAPIRSSKDIVLLKLRTDAGQQGRGFEINYRQTCDNVVIVNKTSGILESINYPNPYDKDQRCNWTIQATTGNTVNYTFLEFDVENYVNCSTDYLELYDGPQRIGRYCGENIPPPGATTGSKLIVVFHTDGVDSGEKGFKMHWFIHGCGGEMSGTMGSFSSPGYPNSYPHNKECIWNIRVAPGNSIQLTIHDFDVEYHASCKYDTLEIYTGLDFHSPRIAQLCSRSPSANPMQISSTDNELAIRFKTDSSLNGRGFNASWRAVPGGCGGIFQVSRGEIHSPNYPNNYRANTECSWIIQVEKYHRVLLNITDFDLEATDSCLMTYDGSSSANTRVATVCGRQQPPNSITSSGNSLFVRFQSGSSSQSRGFRAQFRQECGAHIITDSSDSISSPLYPANYPNNQNCTWIIEAQPPFNHIALSFTHFHLQSSTDCTRDFVEILDGRDSDAPVQGRYCGTSLPHPIISFGNALTVRFVSDSVYGFDGFHAIYSASTSACGGTFYTGDGIFNSPGYPEDYHSNTECVWNIASSPGNHLQLSFLSFQLENSLNCNKDFVEIREGNATGHLMGRYCGNSLPGNYSSIEGHNLWVRFVSDGSGTGMGFQARFKNIFGNDNIVGTHGKIATPFWPGNYPLNSNYRWTVNVDSSHIIHGRILEMDIELTTNCFYDSLKIYDGFDIHSRLIGTYCGTQRESFSSSRNSLTFQFSSDSSKSGRGFLLEWFAVDVSNVTLPTIAPGACGGYMVTGDTPVFFFSPGWPGPYGNGADCIWIIYAPDSTVELNILSMDIEAQLSCSYDKLIIKDGDSRLSQQLAVLCGRSVPGPIRSTGEYMYIRFTSDGSVTGAGFNASFQKSCGGYLHADRGIITSPKYPDNYLPNLNCSWHVLVQSGLTIAVHFEQPFQIQNRDSSCSQGDYLVLRNGPDNHSPPLGPSGGNGRFCGIYTPSTLFTSDNEMFIQFISDNSNGGQGFKIRYEAKSLACGGTIYIHDANSDGYVTSPNYPANYPQHAECIWILEAPSGRSIQLQFEDQFNIEETPNCSASYLELRDGANSNAPVLSKLCGHTLPRNWVSSRGLMYLKFHTEGGSGYMGFKAKYSIVSCGGTVSGDSGVIESVGYPTRLYANNVFCQWHIQGLPGHYLTIRFEDFNLQSSPGCAKDFVEIWENHTSGILLGRYCGNSIPSSVDTSSNVASIRFVTDGSVTDSGFRLQFKSSREVCGGDLHGPTGTFTSPNYPNPNPHPRICEWTINVHEGRQIILTFTNLRLSTQQSCNTEHLIVFNGIRNNSPRLQKLCSRVNVTNEFKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGTLPSVSGGNFSSPGYNGIRDYARNLDCEWTLSNPNRENSSISIHFLGLSLESHQDCTFDVLEFRVGNADGPLIEKFCSLSAPRVPLVIPYPQVWIHFVSNERVEYTGFYVEYSFTNCGGIQTGENGVISSPNYPNLYSRWTQCSWLLEAPEGHTITLTFSDFSVENHPTCTSDSVTVRNGDSPGSPIIGRYCGQSVPGPIQSGSNQLVVTFNTNNQGQSRGFYATWNTNTLGCGGTLHSDNGTIKSPHWPQTFPENSRCSWTAVTHESKHWEISFDSNFRIPSSDSQCRNSFVKVWEGMLETNDALLATSCGNVAPSPIVTLGNIFTAVFQSEEMPAQGFSASFISRCGRTFNSSTGDIVSPNFPKHYDNNMNCNYYIDVAPQSLVILTFVSFHLEDRSAVSGTCDYDGLHIIKGHNLSSTPLVTICGSETLRPLTIDGPVMLNFYSDAYITDFGFKISYRVANCGGIYSGTYGVLNSPSFSYTNYPNNVYCVYSLQVRNDRLILLRFNDFEIVPSNLCSHDYLEVFDGPSIGNRSIGKFCGSTLPQVIKSTNNSLTLLFKTDSSQTARGWKVSFRETIGPQQGCGGYLTEDSKSFVSPDHDSDGLYDKGLNCIWYIIAPENKLVKLTFNAFTLEEPSSPGKCTFDYVQIADGASINSYLGGRFCGSSRPAPFISSGNFLTVQFVSDISIQMRGFNATYTFVDMPCGGTYNATSMPQNTSSPQLSNIRRPFSTCTWVIEAPPHQQVQITVWKLQLPSQDCSRSSLELQDSEQTNGNQVTQFCGANYTTLPVFYSSGSTAVVVFKSDFLNRNSRVHFTYEIADCNREYNQAFGNLKSPGWPQGYANNLDCSIILRAPQNHRISLFFYWFQLEDSRQCMNDFLEVRNGSSSSSPLLGKYCSNLLPNPIFSQSNELYLHFHSDDSDTHHGYEIIWASSPTGCGGTLLGNEGILANPGFPDSYPNNTHCEWTIVAPSGRPLSVGFPFLSIDSPGGCDQNYLILFNGPDANSPPFGPFCGIDTVVAPFHASSNRVFIRFHAEYATVSSGFEIMWSS", "length": 3623 }, "evidence": [ { "id": "45920452", "url": "http://www.informatics.jax.org/homology/45920452", "database": "MGI" }, { "id": "O60494", "url": "https://omabrowser.org/oma/group/O60494/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W332-1", "protein_name": "Cubilin homolog", "gene_name": "Cubn", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MEGAARSRLLLCWTLLAIITDTWPIAEGFVNSPKIISKDGNLIFESGANRNISFRLSGNSRLTINEELDVMELLLATSGSKKRSGGKDDDFVDARELADQLADFNRRAFGANGLSAMLRVQQNRTRGSMALLRRFQTRLRALENRVDRMKTDLEANSCASGPCENGGTCYNTYTGFRCQCRSAFEGTKCEMDVNECALYEGTDLGCQNGGQCQNHFGTYSCLCQPGWHGMHCTQRKADCSQSSAWELCGHGSCVPSADDAGYRCICEPGWKTNGLTPICGEDVDECSDSAAHKPCSTSCINLPGSFTCAPCPAGLTGNGVSCRDLDECQTNNGGCSLSPKVDCINTYGSYHCGECPVGWTGDGRKCERSPQDIDIPAGQTPRTCPAGNNPCYPTASCFLISGTTSCRCPMGMVGTGYGPNGCVNGTTTNCKENPCLNGGICLFAGPSNYTCLCPIGFRPPICEPQPSPCDQHPCKNGGRCRPTTSGDLFVCQCLPGYRGRLCETRFSSCNGMLSAQSGRLRYPPEGTGYEHNAQCAWVIRTNESLVVNVTFNSFDVEDSTECRFDWLQINDGRSAAAQIIGRYCGNHLPHGGNIVSSGNQLYLWFRSDNSTAKEGFDLTWNSMEPQCGGRLNFETHGTLASPGSPGNYPKNRDCRWQLVAPTTKRIKLTFFSLQLEQHANCNFDYVLIKDSISGRELAKYCTTGAPAPLLLPTHLAEIHFHSDAEGSDTGFQLHYSVEERVPGCGGVYTAKEGTISESSTANTEPGGVSCEYEIHLAVGEQVVIQFARLELDPLDCLEVLDITDEGGSILQEKICGSDASRLNPPTFTSEFNRLKIKFYARAGSFQLNYRMACDYKLNNEQGTITSPGYPNLTRSDRICTYTISTATNTVISLKRIDFQLTNGESDDDDNDECLTTNLRINDGLNRKILGPYCGKNQPEENFVSETNYLQLHLSTDVDSMGRGFKFEYRALATGNDKCGGVHTRSGDHIRLPVHDDSYAGEATCYWVIMAPANKAIRLHWNSFSLENAVDCIYDYLEIYDSLGAQVNDERSKPLAKYCGNSVPEDLLSHSRQLVLKFVSDYSESDGGFDLTYTFEDRAKCGGHIHASSGELTSPEYPANYSAGLDCDWHLTGTIDHLLEIQVENFELEQSPNCSADYLEVRNGGGTDSPLIGRFCGRDIPARIPGFSHEMRLILHTDSAINGRGFRLRWRIFAFGCGGSLRSNMGAISSPRYPNSYPNMAHCEWRISLHPGSGISLLIEDLELEGLSNCYYDSVKIYTGIKLPNQSPCKVLCKDDDLHNPLIQLENNKGTIVFDSDASNTFRGFRISYKANCIRNLTATTGTIESLNYMEPFWETIPINCSWTIRAPKGNRVLVEVSHLARHEQHVPTATMPGGLYIVDGRNVQEIVTPQAMNISGEVLTVVHNASNVNFQLDYRIDGCMEELRGTFGFFQSPNYPKMYPNNLECYWLITVEQDSAIELTINNIDLEDSPNCTKDALTVSNHKNSVEVHERHCGSTTKLVITSSGHRLHVRFISDNSHNGLGFEATYRTVKATCGGKLTARNGVIESPNYPLNYPAHSRCEWQVEVSQHHQIVFEMADLNLESGYDCNWDYLEAYDLTEDDTEGERLFKVCGDETEDDKLLSSSSNMAVVRFISDDSVSKKGFRLHFHESCGQTIIVDETMFDYIQMSRQAARNESCLWVFQAVEPNKRIIFTPTHVKLREDANQQYPTEGDCLNVGVKIYEGTEPQGTPRLKFCRSHPPALISNGQALTVSVPLQLVEEFQGHYMTMDTSCGSIYNALSGKFTSPYYPASYPPNIECLWLLEASMGNSLSLTLESMDLEKSESCNRDYLEVREESESGQLIGVYCGNEVPGVIHSRGAIWMKFKSDDDNVGEGFMASYNYEHHNELNGTEGTIESPHFPSKFQDPVPYSWRITVDKEYVVAISLLYLRDLDQPHLNFYDGYSDIGARIEVTDPDETIISSTNVVYFTSNRGPFKLNWNRLSKEALRSNRTAEERTRQCGNQLITIDRSVIGFHSPGYPNGYEQDLNCFWTLVPSNPAMHAVLTLSQIDLEIFSEDCIADYVKIFSGSDLQNWSELRTLCSLPTESSDRVFHGRPYLRVEFVTDPSVNKTGFNGIVRTACGSEITASKGLVNITEILKVLPRPNHDCVWTIKVRQGRRIKIDFPDFQLQNNMASGSSDCRNYLLLRNGNDEDSPFLGRGKYCEDVVHEVLNTSSNKAYIKFHFASPPRFLVSFRFEELRYTDSGRIRLSASGDEQFISSPYYPHLPHPHSECIWIVEAPPEHRIMLHFQGAFDMLDATGEPEECQREFVLINDGSTELRPEIGRYCGNRKPDTIYSTGNQMRIRYFTDVSEPHMGFNASLSVARCGGSFHSPEGVIASPSRDLLLIHEEGKQLQECVYTIELEKGSTIDLTSEYLQIPTLRNGSCSQRNHLMLEEMDAFGLDGEEKIVDTLMLCGMEAKHLISETNKIVFRYRFLDGIPAENQGFRLKYTSLGSRCGETIYASVGVLQTPGYPLGVPHPMHCKWQVQVPKGRRVRLEILDFNTGTNMDLRGRLGFRGRLTVANDFKMQSILGRYNVDPPAEVLSSDNTMGIDAFLLPIVQNHGIKLRFSAYGSSSCPGFTVMMNEVADIQFQRFNISRPLHCSYKVVPPSNSTLLIRVKEYNTTSVMMWNTHMCALLSPLKFNRLEQEEELMERILCDYQSPAPGKPLPSIRLPFPIQLVVSASARNAMTNLVLSYSTQSCGGVIILEPGDNMTVHQPSGMVSAAGAIDCAWAIGPYTDASGEDEVLVPQDIQLEVSVYNVNLPAPSPSAQSPEAPCLHHYLKVYNGPDQNSPSLGLFCNQATAVNMVVERGLFLEYHSDSFSANATFNVSIKYGSGCGGKLVYPYRAIDFAEQYKNNVECIWEVEATMGYHIGLTFQGRFYIEDSPGCTKDYLLVQQRNETTGNWTDLQRICGRVAPEMINTTSPYLRLIFRSDGDVVADGFLAKFERNCGGLLYADSTEQELASPGFPNGYEKYLQCNWTIVPRSPSMGGVLVSFVNFDLEQGPISVCLYDNLTVTTKDKGKDPQQTTLCGVKHNHEYRGKEYVNLLLRTDGSYSGRGFTLLYTSRLCGGIISRTSMVESPVQHTDNTLPPGSDCYWNLTAPAGYKFNIKFLFIDFEANSNCAYDGVEVFSGPIPDERYRWGRFCGRINEDLPLISIPQERGIIHSFSDDRDPSRGFRALVRVMPNCDEKISLNGSSRYVYSKFNNAGGYQNDLDCQIVFRVNPDQQISVEFSNFHVQDTDGCRSDYVELRDGGGTFADIIGRFCGQNQPPTLRTTRHTLYMRFVTDNKVTDTGFQVTINAIPRLCGSSEITLSADGTKEVTINSPARTPGGNYPNGVSCFWKIKGDSLLRVQFVNFDLHGPNQNGSCVDDYLKIYNSEDAPLLEQGLGTDLVFNGQTSSKNGFGFATEHVYCGNVKPDIYYGRSSEVYLKFRSKGLEQHGGFQLQVALNSNRERHYDGLQGRVHLSQSADCNIIIRAPPNYTLSLYYTELIFGTYDCEMENLEVFDRTNRSLQRVCSFVDMGKSLFSNANELRLQMKTGSYLTSLDLTYLASPVEKGPGCGGQFYNTEGIFSNPFYPNNVRNNSECQWIVRVPSNNVVFLTFEVFNLGSKTTCHTDYLQILEQDATGEEREMRRFCGEDNPKYYKSRRSQVLVRFHKTVNYDGIGWVIRFAGVYSDHQIPRHLLGGS", "length": 3750 }, "evidence": [ { "id": "O60494", "url": "https://omabrowser.org/oma/group/O60494/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "extrinsic component of external side of plasma membrane", "id": "GO:0031232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031232", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "microvillus membrane", "id": "GO:0031528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031528", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "cobalamin metabolic process", "id": "GO:0009235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009235", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "cobalamin transport", "id": "GO:0015889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015889", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "establishment of localization in cell", "id": "GO:0051649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "cobalamin binding", "id": "GO:0031419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031419", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "cubilin N-glycosylated 1 (human)", "definition": "A cubilin (human) that has been N-glycosylated at the residue equivalent to Asn-2085 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G59334JE. Example: UniProtKB:O60494-1, Asn-2085, MOD:00160~GNO:G59334JE. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000050782", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050782" } ] }, { "name": "cubilin N-glycosylated 2 (human)", "definition": "A cubilin (human) that has been N-glycosylated at the residue equivalent to Asn-2531 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:O60494-1, Asn-2531, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050783", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050783" } ] }, { "name": "cubilin O-glycosylated 1 (human)", "definition": "A cubilin (human) that has been O-glycosylated at the residue equivalent to Ser-2904 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60494-1, Ser-2904, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050784", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050784" } ] }, { "name": "cubilin O-glycosylated 2 (human)", "definition": "A cubilin (human) that has been O-glycosylated at the residue equivalent to Ser-3591 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60494-1, Ser-3591, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050785", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050785" } ] }, { "name": "cubilin O-glycosylated 3 (human)", "definition": "A cubilin (human) that has been O-glycosylated at the residue equivalent to Ser-688 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O60494-1, Ser-688, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050786", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050786" } ] }, { "name": "cubilin O-glycosylated 4 (human)", "definition": "A cubilin (human) that has been O-glycosylated at the residue equivalent to Thr-1972 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:O60494-1, Thr-1972, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050787", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050787" } ] }, { "name": "cubilin O-glycosylated 5 (human)", "definition": "A cubilin (human) that has been O-glycosylated at the residue equivalent to Thr-1972 of the amino acid sequence represented by UniProtKB:O60494-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60494-1, Thr-1972, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050788", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050788" } ] } ], "site_annotation": [ { "start_pos": 105, "end_pos": 107, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1092, "end_pos": 1094, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1168, "end_pos": 1170, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1217, "end_pos": 1219, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1285, "end_pos": 1287, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1307, "end_pos": 1309, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1319, "end_pos": 1321, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1332, "end_pos": 1334, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1500, "end_pos": 1502, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1551, "end_pos": 1553, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1646, "end_pos": 1648, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1802, "end_pos": 1804, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1819, "end_pos": 1821, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1885, "end_pos": 1887, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2085, "end_pos": 2087, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2117, "end_pos": 2119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2274, "end_pos": 2276, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2386, "end_pos": 2388, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2400, "end_pos": 2402, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2531, "end_pos": 2533, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2581, "end_pos": 2583, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2592, "end_pos": 2594, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2610, "end_pos": 2612, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2813, "end_pos": 2815, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2923, "end_pos": 2925, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2945, "end_pos": 2947, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3042, "end_pos": 3044, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3103, "end_pos": 3105, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3125, "end_pos": 3127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3165, "end_pos": 3167, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3268, "end_pos": 3270, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3283, "end_pos": 3285, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3290, "end_pos": 3292, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3295, "end_pos": 3297, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3357, "end_pos": 3359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3430, "end_pos": 3432, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3457, "end_pos": 3459, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3533, "end_pos": 3535, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3576, "end_pos": 3578, "annotation": "n_glycosylation_sequon" }, { "start_pos": 3, "end_pos": 5, "annotation": "n_glycosylation_sequon" }, { "start_pos": 428, "end_pos": 430, "annotation": "n_glycosylation_sequon" }, { "start_pos": 482, "end_pos": 484, "annotation": "n_glycosylation_sequon" }, { "start_pos": 711, "end_pos": 713, "annotation": "n_glycosylation_sequon" }, { "start_pos": 749, "end_pos": 751, "annotation": "n_glycosylation_sequon" }, { "start_pos": 781, "end_pos": 783, "annotation": "n_glycosylation_sequon" }, { "start_pos": 857, "end_pos": 859, "annotation": "n_glycosylation_sequon" }, { "start_pos": 957, "end_pos": 959, "annotation": "n_glycosylation_sequon" }, { "start_pos": 984, "end_pos": 986, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" }, { "database": "PubMed", "id": "20237569", "url": "https://glygen.org/publication/PubMed/20237569" }, { "database": "PubMed", "id": "14576052", "url": "https://glygen.org/publication/PubMed/14576052" }, { "database": "PubMed", "id": "29402915", "url": "https://glygen.org/publication/PubMed/29402915" } ] }, { "annotation": "The precursor is cleaved by a trans-Golgi proteinase furin, removing a propeptide.", "evidence": [ { "database": "UniProtKB", "id": "O60494", "url": "https://www.uniprot.org/uniprot/O60494" }, { "database": "PubMed", "id": "9572993", "url": "https://glygen.org/publication/PubMed/9572993" } ] } ], "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" } ], "sequence_features": { "n_linked_sites": [ 105, 428, 482, 711, 749, 781, 857, 957, 984, 1092, 1168, 1217, 1285, 1307, 1319, 1332, 1500, 1551, 1646, 1802, 1819, 1885, 2085, 2117, 2148, 2274, 2386, 2400, 2531, 2581, 2592, 2610, 2813, 2923, 2945, 3042, 3103, 3125, 3165, 3268, 3283, 3290, 3295, 3357, 3430, 3457, 3533, 3576 ], "o_linked_sites": [ 196, 286, 688, 1972, 2904, 3591 ], "snv_sites": [ 194, 196, 314, 315, 322, 328, 352, 392, 430, 434, 484, 711, 713, 749, 760, 766, 781, 783, 806, 857, 859, 878, 889, 913, 957, 959, 984, 986, 993, 1092, 1094, 1170, 1182, 1217, 1231, 1285, 1319, 1321, 1332, 1334, 1491, 1500, 1541, 1551, 1571, 1611, 1626, 1642, 1648, 1672, 1752, 1802, 1804, 1819, 1835, 1885, 1887, 1948, 1972, 2005, 2014, 2047, 2078, 2085, 2087, 2119, 2161, 2179, 2191, 2222, 2238, 2274, 2276, 2319, 2330, 2388, 2400, 2420, 2469, 2498, 2521, 2531, 2533, 2543, 2578, 2581, 2583, 2610, 2612, 2683, 2700, 2709, 2813, 2815, 2887, 2895, 2904, 2925, 2931, 2937, 2944, 2947, 3018, 3042, 3044, 3079, 3103, 3105, 3125, 3127, 3165, 3246, 3268, 3270, 3283, 3285, 3290, 3296, 3357, 3358, 3359, 3385, 3407, 3430, 3431, 3432, 3457, 3462, 3503, 3535, 3576, 3578 ], "glycation_sites": [], "phosphorylation_sites": [ 3008 ], "sequon_annotation_sites": [ { "start_pos": 105, "end_pos": 107 }, { "start_pos": 1092, "end_pos": 1094 }, { "start_pos": 1168, "end_pos": 1170 }, { "start_pos": 1217, "end_pos": 1219 }, { "start_pos": 1285, "end_pos": 1287 }, { "start_pos": 1307, "end_pos": 1309 }, { "start_pos": 1319, "end_pos": 1321 }, { "start_pos": 1332, "end_pos": 1334 }, { "start_pos": 1500, "end_pos": 1502 }, { "start_pos": 1551, "end_pos": 1553 }, { "start_pos": 1646, "end_pos": 1648 }, { "start_pos": 1802, "end_pos": 1804 }, { "start_pos": 1819, "end_pos": 1821 }, { "start_pos": 1885, "end_pos": 1887 }, { "start_pos": 2085, "end_pos": 2087 }, { "start_pos": 2117, "end_pos": 2119 }, { "start_pos": 2274, "end_pos": 2276 }, { "start_pos": 2386, "end_pos": 2388 }, { "start_pos": 2400, "end_pos": 2402 }, { "start_pos": 2531, "end_pos": 2533 }, { "start_pos": 2581, "end_pos": 2583 }, { "start_pos": 2592, "end_pos": 2594 }, { "start_pos": 2610, "end_pos": 2612 }, { "start_pos": 2813, "end_pos": 2815 }, { "start_pos": 2923, "end_pos": 2925 }, { "start_pos": 2945, "end_pos": 2947 }, { "start_pos": 3042, "end_pos": 3044 }, { "start_pos": 3103, "end_pos": 3105 }, { "start_pos": 3125, "end_pos": 3127 }, { "start_pos": 3165, "end_pos": 3167 }, { "start_pos": 3268, "end_pos": 3270 }, { "start_pos": 3283, "end_pos": 3285 }, { "start_pos": 3290, "end_pos": 3292 }, { "start_pos": 3295, "end_pos": 3297 }, { "start_pos": 3357, "end_pos": 3359 }, { "start_pos": 3430, "end_pos": 3432 }, { "start_pos": 3457, "end_pos": 3459 }, { "start_pos": 3533, "end_pos": 3535 }, { "start_pos": 3576, "end_pos": 3578 }, { "start_pos": 3, "end_pos": 5 }, { "start_pos": 428, "end_pos": 430 }, { "start_pos": 482, "end_pos": 484 }, { "start_pos": 711, "end_pos": 713 }, { "start_pos": 749, "end_pos": 751 }, { "start_pos": 781, "end_pos": 783 }, { "start_pos": 857, "end_pos": 859 }, { "start_pos": 957, "end_pos": 959 }, { "start_pos": 984, "end_pos": 986 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 58 }, { "field": "total_sites", "count": 54 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "n_linked_glycan_sites", "count": 50 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "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": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 11 }, { "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": 10 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "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": 37 }, { "field": "total_sites", "count": 37 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 37 }, { "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": 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": 163 }, { "field": "total_sites", "count": 132 } ], "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": 35 }, { "field": "total_sites", "count": 35 } ], "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": 128 }, { "field": "total_sites", "count": 107 } ], "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": 82 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }