{ "uniprot": { "url": "http://www.uniprot.org/uniprot/P29460-1/", "uniprot_canonical_ac": "P29460-1", "uniprot_id": "IL12B_HUMAN", "uniprot_canonical_ac_length": "402" }, "history": [ "introduced in data release 1.5.11" ], "mass": { "chemical_mass": 638 }, "protein_names":[ { "type":"recommended", "name":"Sex hormone-binding globulin", "resource":"UniProtKB" }, { "type":"synonym", "name":"SHBG", "resource":"UniProtKB" } ], "gene_names":[ { "type":"recommended", "name":"MGAT1", "resource":"UniProtKB" }, { "type":"synonym", "name":"MGT1", "resource":"UniProtKB" } ], "species": [ { "name": "human", "common_name": "man", "tax_id": 9606, "url": "https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&id=9606", "evidence": [ { "database": "UniProt", "id": "P04278", "url": "http://glycomics.ccrc.uga.edu/ontologies" } ] } ], "gene": [ { "name": "MGAT1", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:7044", "locus": { "chromosome": "1", "start_pos": 1233131, "end_pos": 332423, "strand":"+", "evidence": [ { "database": "Ensemble Gene", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" }, { "database": "Ensemble Peptide", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" } ] } } ], "ptm_annotation": [ { "annotation": "High frequency non-synonymous mutation in BRCA (DOID:001) cancer", "evidence": [ { "database": "Ensemble Gene", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" }, { "database": "Ensemble Peptide", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" } ] } ], "phosphorylation": [ { "residue": "Ser", "position": "1120", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10347170", "id": "10347170", "database": "PubMed" } ], "kinase_uniprot_canonical_ac": "Q9UQM7-1", "kinase_gene_name": "CAMK2A" } ], "crossref": [ { "database": "PubChem Substance", "id": "252295406", "url": "https://pubchem.ncbi.nlm.nih.gov/substance/252295406#section=Top" } ], "synthesized_glycans": [ { "glytoucan_ac": "G123456", "type": "N-Glycan" } ], "pathway": [ { "resource": "KEGG", "id": "hsa:1081", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:1081", "name": "something" } ], "sequence": { "sequence": "MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDASH", "length": 402 }, "keywords": [ "3D-structure" ], "isoforms": [ { "isoform_ac": "P04278-4", "Protein_name": "Hepatocyte growth factor", "locus": { "chromosome": "1", "start_pos": 1233131, "end_pos": 332423, "strand":"+", "evidence": [ { "database": "Ensemble Transcript", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" }, { "database": "Ensemble Peptide", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" } ] }, "sequence": { "sequence": "MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDASH", "length": 402 }, "url": "https://pubchem.ncbi.nlm.nih.gov/substance/252295406#section=Top" } ], "orthologs": [ { "uniprot_canonical_ac": "P29460-1", "organism": "Mus_musculus", "common_name": "man", "tax_id": 1009, "protein_name": "6.8 kDa mito", "evidence": [ { "database": "Ensemble Transcript", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" }, { "database": "Ensemble Peptide", "id": "ENSG00000090659", "url": "http://useast.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000090659;r=19:7739994-7747564" } ], "sequence": { "sequence": "MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEVRTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEVLRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGIFLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPLVLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDVDQALNRSHEIWTHSCPQSPGNGTDASH", "length": 402 } } ], "publication": [ { "title": "The carbohydrate chains of the beta subunit of human chorionic gonadotropin produced by the choriocarcinoma cell line BeWo. Novel O-linked and novel bisecting-GlcNAc-containing N-linked carbohydrates.", "journal": "European journal of biochemistry", "authors": "Hard K, Damm JB, Spruijt MP, Bergwerff AA, Kamerling JP, Van Dedem GW, Vliegenthart JF", "date": "1992", "reference":[ { "type":"PMID", "id":"1374031", "url": "https://www.ncbi.nlm.nih.gov/pubmed/1374031" } ], "evidence": [ { "url": "http://www.unicarbkb.org/structure/1189", "id": "1189", "database": "UniCarbKB" } ] } ], "glycosylation": [ { "residue": "T", "position": 36, "glytoucan_ac": "G123456", "type": "N-Glycan", "subtype":"dffd", "evidence": [ { "database": "UniProt", "id": "P04278", "url": "http://glycomics.ccrc.uga.edu/ontologies" } ] } ], "interactions": [ { "interactor_type": "glycosaminoglycan", "interactor_name": "chondroitin sulphate A", "interactor_id": "G123456", "evidence": [ { "database": "UniProt", "id": "P04278", "url": "http://glycomics.ccrc.uga.edu/ontologies" } ] } ], "glycation": [ { "residue": "Lys371", "reducing_end_sugar": "Glc", "glycation_annotation": "Glc(glycation)lysine;inPHF;in VITRO", "evidence": [ { "database": "UniProt", "id": "P04278", "url": "http://glycomics.ccrc.uga.edu/ontologies" } ] } ], "function": [ { "annotation": "Sex hormon binding protein", "evidence": [ { "database": "UniProtKb", "id": "P04278", "url": "http://uniprot.org/P04278" } ], "url": "http://glycomics.ccrc.uga.edu/ontologies" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 100, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" }, { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" } ] } ] }, { "name": "Biological Process", "total": 99, "go_terms": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" }, { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" } ] } ] }, { "name": "Molecular Function", "total": 101, "go_terms": [ { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" }, { "database": "UniProt", "id": "P14210", "url": "https://www.uniprot.org/uniprot/P14210" } ] } ] } ] }, "disease": [ { "recommended_name":{ "name": "Osteoarthritis of first carpometacarpal joint", "description":"dff dfsdfdsf", "id": "DOID:162", "resource":"Disease Ontology", "url": "https://www.icd10data.com/ICD10CM/Codes/M00-M99/M15-M19/M18-/M18" }, "synonyms":[ { "name": "Some name in ICD10", "id": "M18", "resource":"ICD10", "url": " some url in ICD10" } ], "evidence": [ { "database": "UniProtKb", "id": "P04278", "url": "http://uniprot.org/P04278" } ] } ], "snv": [ { "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "81372782", "minor_allelic_frequency":"0.001", "sequence_org": "T", "sequence_mut": "N", "start_pos": 36, "end_pos": 36, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TQS->NQS); o-glyco-sequon-loss (T->N).", "keywords": [ "ebi", "disease" ], "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373254168", "id": "rs373254168", "database": "dbSNP" } ], "disease": [ { "synonyms": [ { "id": "0111395", "url": "http://disease-ontology.org/term/DOID:0111395", "resource": "Disease Ontology", "name": "MPS3A", "description": "" } ], "recommended_name": { "id": "0111395", "url": "http://disease-ontology.org/term/DOID:0111395", "resource": "Disease Ontology", "name": "mucopolysaccharidosis type IIIA", "description": "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3." } } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "N", "start_pos": 36, "end_pos": 36, "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TQS->NQS); o-glyco-sequon-loss (T->N).", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373254168", "id": "rs373254168", "database": "dbSNP" } ] } ], "refseq": { "ac": " NC_001802", "url": "https://www.genome.jp/dbget-bin/www_bget?refseq:NC_001802", "name": "Some thing", "summary": "somrthing" }, "expression_tissue": [ { "tissue": { "name": "lung", "uberon": "0002048", "url": "https://www.icd10data.com/ICD10CM/Codes/M00-M99/M15-M19/M18-/M18" }, "present": "no", "evidence": [ { "database": "UniProtKb", "id": "P04278", "url": "http://uniprot.org/P04278" } ] } ], "expression_disease": [ { "disease": { "name": "Osteoarthritis of first carpometacarpal joint", "icd10": "M18", "doid": "DOID:162", "url": "https://www.icd10data.com/ICD10CM/Codes/M00-M99/M15-M19/M18-/M18" }, "significant": "yes", "trend": "down", "evidence": [ { "database": "UniProtKb", "id": "P04278", "url": "http://uniprot.org/P04278" } ] } ] }