{ "uniprot_canonical_ac": "P02760-1", "uniprot_ac": "P02760", "uniprot_id": "AMBP_HUMAN", "mass": { "chemical_mass": 38999.0, "monoisotopic_mass": 38999.0 }, "refseq": { "ac": "NP_001624", "name": "protein AMBP preproprotein", "summary": "This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624" }, "gene_names": [ { "name": "AMBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02760", "id": "P02760" }, { "name": "A1M; EDC1; HCP; HI30; IATIL; ITI; ITIL; ITILC; UTI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624", "id": "NP_001624" }, { "name": "AMBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624", "id": "NP_001624" }, { "name": "HCP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02760", "id": "P02760" }, { "name": "ITIL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02760", "id": "P02760" } ], "protein_names": [ { "name": "Protein AMBP", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02760" }, { "name": "Alpha-1 microglycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "Bikunin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "Complex-forming glycoprotein heterogeneous in charge", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "EDC1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "HI-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "Protein HC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "Uronic-acid-rich protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02760" }, { "name": "protein AMBP preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624", "id": "NP_001624" }, { "name": "protein HC; complex-forming glycoprotein heterogeneous in charge; uronic-acid-rich protein; trypstatin; bikunin; inter-alpha-trypsin inhibitor light chain; protein AMBP; uristatin; growth-inhibiting protein 19", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624", "id": "NP_001624" } ], "function": [ { "annotation": "Antioxidant and tissue repair protein with reductase, heme-binding and radical-scavenging activities. Removes and protects against harmful oxidants and repairs macromolecules in intravascular and extravascular spaces and in intracellular compartments (PubMed:11877257, PubMed:15683711, PubMed:22096585, PubMed:23157686, PubMed:23642167, PubMed:25698971, PubMed:32823731, PubMed:32092412). Intravascularly, plays a regulatory role in red cell homeostasis by preventing heme- and reactive oxygen species-induced cell damage. Binds and degrades free heme to protect fetal and adult red blood cells from hemolysis (PubMed:11877257, PubMed:32092412). Reduces extracellular methemoglobin, a Fe3+ (ferric) form of hemoglobin that cannot bind oxygen, back to the Fe2+ (ferrous) form deoxyhemoglobin, which has oxygen-carrying potential (PubMed:15683711). Upon acute inflammation, inhibits oxidation of low-density lipoprotein particles by MPO and limits vascular damage (PubMed:25698971). Extravascularly, protects from oxidation products formed on extracellular matrix structures and cell membranes. Catalyzes the reduction of carbonyl groups on oxidized collagen fibers and preserves cellular and extracellular matrix ultrastructures (PubMed:23642167, PubMed:22096585). Importantly, counteracts the oxidative damage at blood-placenta interface, preventing leakage of free fetal hemoglobin into the maternal circulation (PubMed:21356557). Intracellularly, has a role in maintaining mitochondrial redox homeostasis. Bound to complex I of the respiratory chain of mitochondria, may scavenge free radicals and preserve mitochondrial ATP synthesis. Protects renal tubule epithelial cells from heme-induced oxidative damage to mitochondria (PubMed:23157686, PubMed:32823731). Reduces cytochrome c from Fe3+ (ferric) to the Fe2+ (ferrous) state through formation of superoxide anion radicals in the presence of ascorbate or NADH/NADPH electron donor cofactors, ascorbate being the preferred cofactor (PubMed:15683711). Has a chaperone role in facilitating the correct folding of bikunin in the endoplasmic reticulum compartment (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760#function" }, { "database": "PubMed", "id": "23642167", "url": "https://glygen.org/publication/PubMed/23642167" }, { "database": "PubMed", "id": "11877257", "url": "https://glygen.org/publication/PubMed/11877257" }, { "database": "PubMed", "id": "15683711", "url": "https://glygen.org/publication/PubMed/15683711" }, { "database": "PubMed", "id": "25698971", "url": "https://glygen.org/publication/PubMed/25698971" }, { "database": "PubMed", "id": "23157686", "url": "https://glygen.org/publication/PubMed/23157686" }, { "database": "PubMed", "id": "22096585", "url": "https://glygen.org/publication/PubMed/22096585" }, { "database": "PubMed", "id": "32823731", "url": "https://glygen.org/publication/PubMed/32823731" }, { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprot/Q07456#function" }, { "database": "PubMed", "id": "32092412", "url": "https://glygen.org/publication/PubMed/32092412" }, { "database": "PubMed", "id": "21356557", "url": "https://glygen.org/publication/PubMed/21356557" } ] }, { "annotation": "Correlation between peripheral blood alpha1-MG, DNMT1 expression, and the severity of diabetic nephropathy renal pathological damage.", "evidence": [ { "database": "RefSeq", "id": "NP_001624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624" }, { "database": "PubMed", "id": "37861555", "url": "https://glygen.org/publication/PubMed/37861555" } ] }, { "annotation": "Kunitz-type serine protease inhibitor and structural component of extracellular matrix with a role in extracellular space remodeling and cell adhesion (PubMed:25301953, PubMed:20463016). Among others, has antiprotease activity toward kallikrein, a protease involved in airway inflammation; inhibits GZMK/granzyme, a granule-stored serine protease involved in NK and T cell cytotoxic responses; and inhibits PLG/plasmin, a protease required for activation of matrix metalloproteinases (PubMed:16873769, PubMed:10480954, PubMed:15917224). As part of I-alpha-I complex, provides for the heavy chains to be transferred from I-alpha-I complex to hyaluronan in the presence of TNFAIP6, in a dynamic process that releases free bikunin and remodels extracellular matrix proteoglycan structures. Free bikunin, but not its heavy chain-bound form, acts as potent protease inhibitor in airway secretions (PubMed:16873769). Part of hyaluronan-rich extracellular matrix that surrounds oocyte during cumulus oophorus expansion, an indispensable process for proper ovulation (By similarity). Also inhibits calcium oxalate crystallization (PubMed:7676539).", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760#function" }, { "database": "PubMed", "id": "25301953", "url": "https://glygen.org/publication/PubMed/25301953" }, { "database": "PubMed", "id": "16873769", "url": "https://glygen.org/publication/PubMed/16873769" }, { "database": "PubMed", "id": "15917224", "url": "https://glygen.org/publication/PubMed/15917224" }, { "database": "PubMed", "id": "7676539", "url": "https://glygen.org/publication/PubMed/7676539" }, { "database": "PubMed", "id": "20463016", "url": "https://glygen.org/publication/PubMed/20463016" }, { "database": "UniProtKB", "id": "Q07456", "url": "https://www.uniprot.org/uniprot/Q07456#function" }, { "database": "PubMed", "id": "10480954", "url": "https://glygen.org/publication/PubMed/10480954" } ] }, { "annotation": "Kunitz-type serine protease inhibitor. Has high catalytic efficiency for F10/blood coagulation factor Xa and may act as an anticoagulant by inhibiting prothrombin activation. Inhibits trypsin and mast cell CMA1/chymase and tryptase proteases.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760#function" }, { "database": "UniProtKB", "id": "Q64240", "url": "https://www.uniprot.org/uniprot/Q64240#function" }, { "database": "UniProtKB", "id": "S4R471", "url": "https://www.uniprot.org/uniprot/S4R471#function" }, { "database": "UniProtKB", "id": "ARBA00029383", "url": "https://www.uniprot.org/uniprot/ARBA00029383#function" } ] }, { "annotation": "This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs199693634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199693634" }, { "id": "rs199693634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199693634" }, { "id": "rs199693634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199693634#frequency_tab" }, { "id": "rs199693634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199693634" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 252, "end_pos": 252, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGI); o-glyco-site-loss (T->I).", "chr_id": "9", "chr_pos": "114061522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199693634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199693634" }, { "id": "rs199693634", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199693634" }, { "id": "rs199693634", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199693634#frequency_tab" }, { "id": "rs199693634", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199693634" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 252, "end_pos": 252, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGK); o-glyco-site-loss (T->K).", "chr_id": "9", "chr_pos": "114061522", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T252", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749213583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749213583" }, { "id": "rs749213583", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749213583" }, { "id": "rs749213583", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749213583" }, { "id": "rs749213583", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749213583#frequency_tab" }, { "id": "rs749213583", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749213583" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 36, "end_pos": 36, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->SIS); n-glyco-sequon-gain (NFN->NFS).", "chr_id": "9", "chr_pos": "114078103", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N36", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142267376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142267376" }, { "id": "rs142267376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142267376" }, { "id": "rs142267376", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142267376#frequency_tab" }, { "id": "rs142267376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142267376" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "9", "chr_pos": "114074146", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780025188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780025188" }, { "id": "rs780025188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780025188" }, { "id": "rs780025188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780025188" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->KIT).", "chr_id": "9", "chr_pos": "114074145", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1405775116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405775116" }, { "id": "rs1405775116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405775116" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->YIT).", "chr_id": "9", "chr_pos": "114074147", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758081714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758081714" }, { "id": "rs758081714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758081714" }, { "id": "rs758081714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758081714" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NII).", "chr_id": "9", "chr_pos": "114074140", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1278306778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1278306778" }, { "id": "rs1278306778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1278306778" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NIP).", "chr_id": "9", "chr_pos": "114074141", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1353211432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1353211432" }, { "id": "rs1353211432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1353211432" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 179, "end_pos": 179, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "9", "chr_pos": "114072945", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371937985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371937985" }, { "id": "rs371937985", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371937985" }, { "id": "rs371937985", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371937985#frequency_tab" }, { "id": "rs371937985", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371937985" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 215, "end_pos": 215, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "9", "chr_pos": "114062718", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S215", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs925880068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs925880068" }, { "id": "rs925880068", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs925880068#frequency_tab" }, { "id": "rs925880068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs925880068" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 24, "end_pos": 24, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "9", "chr_pos": "114078140", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs142189555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142189555" }, { "id": "rs142189555", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142189555" }, { "id": "rs142189555", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142189555#frequency_tab" }, { "id": "rs142189555", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142189555" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 24, "end_pos": 24, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "9", "chr_pos": "114078139", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P02760", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02760" }, { "id": "rs142189555", "database": 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"recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1301408141", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1301408141" }, { "id": "rs1301408141", "database": 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"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": 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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} ], "sequence": { "sequence": "MRSLGALLLLLSACLAVSAGPVPTPPDNIQVQENFNISRIYGKWYNLAIGSTCPWLKKIMDRMTVSTLVLGEGATEAEISMTSTRWRKGVCEETSGAYEKTDTDGKFLYHKSKWNITMESYVVHTNYDEYAIFLTKKFSRHHGPTITAKLYGRAPQLRETLLQDFRVVAQGVGIPEDSIFTMADRGECVPGEQEPEPILIPRVRRAVLPQEEEGSGGGQLVTEVTKKEDSCQLGYSAGPCMGMTSRYFYNGTSMACETFQYGGCMGNGNNFVTEKECLQTCRTVAACNLPIVRGPCRAFIQLWAFDAVKGKCVLFPYGGCQGNGNKFYSEKECREYCGVPGDGDEELLRFSN", "length": 352, "header": "sp|P02760-1|AMBP_HUMAN Isoform 1 of Protein AMBP OS=Homo sapiens OX=9606 GN=AMBP PE=1 SV=1 CANONICAL=P02760-1" }, "isoforms": [ { "isoform_ac": "P02760-1", "url": "", "sequence": { "sequence": "MRSLGALLLLLSACLAVSAGPVPTPPDNIQVQENFNISRIYGKWYNLAIGSTCPWLKKIMDRMTVSTLVLGEGATEAEISMTSTRWRKGVCEETSGAYEKTDTDGKFLYHKSKWNITMESYVVHTNYDEYAIFLTKKFSRHHGPTITAKLYGRAPQLRETLLQDFRVVAQGVGIPEDSIFTMADRGECVPGEQEPEPILIPRVRRAVLPQEEEGSGGGQLVTEVTKKEDSCQLGYSAGPCMGMTSRYFYNGTSMACETFQYGGCMGNGNNFVTEKECLQTCRTVAACNLPIVRGPCRAFIQLWAFDAVKGKCVLFPYGGCQGNGNKFYSEKECREYCGVPGDGDEELLRFSN", "length": 352, "header": 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"type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "21", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/21" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 115, "start_aa": "Asn", "end_pos": 115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn115", "evidence": [ { "id": "21", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/21" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G64527OM", "type": 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Acta", "date": "2000", "authors": "Akerstr\u00f6m B, L\u00f6gdberg L, Bergg\u00e5rd T, Osmark P, Lindqvist A", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "11058759", "url": "https://glygen.org/publication/PubMed/11058759" } ] }, { "title": "Identification of the haemoglobin scavenger receptor.", "journal": "Nature", "date": "2001", "authors": "Kristiansen M, Graversen JH, Jacobsen C, Sonne O, Hoffman HJ, Law SK, Moestrup SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "11196644", "url": "https://glygen.org/publication/PubMed/11196644" } ] }, { "title": "Processing of the lipocalin alpha(1)-microglobulin by hemoglobin induces heme-binding and heme-degradation properties.", "journal": "Blood", "date": "2002", "authors": "Allhorn M, Berggard T, Nordberg J, Olsson ML, Akerstrom B", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "11877257", "url": "https://glygen.org/publication/PubMed/11877257" } ] }, { "title": "Kinetics of deoxyhemoglobin subunit dissociation determined by haptoglobin binding: estimation of the equilibrium constant from forward and reverse rates.", "journal": "Biochemistry", "date": "1976", "authors": "Ip SH, Johnson ML, Ackers GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "1252417", "url": "https://glygen.org/publication/PubMed/1252417" } ] }, { "title": "[Isolation of the haptoglobin-hemoglobin complex in human blood in homogenous state. 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Receptor-mediated uptake with recycling of the protein.", "journal": "The Biochemical journal", "date": "1979", "authors": "Smith A, Morgan WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "496916", "url": "https://glygen.org/publication/PubMed/496916" } ] }, { "title": "Studies on the structures of haptoglobin 1-1 and hemoglobin in the haptoglobin-hemoglobin complex.", "journal": "Biochemical and biophysical research communications", "date": "1971", "authors": "Waks M, Kahn PC, Beychok S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "5135507", "url": "https://glygen.org/publication/PubMed/5135507" } ] }, { "title": "Complete amino acid sequence of human alpha 1-microglobulin.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1981", "authors": "Takagi T, Takagi K, Kawai T", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "6164372", "url": "https://glygen.org/publication/PubMed/6164372" } ] }, { "title": "Kunitz-type proteinase inhibitors derived by limited proteolysis of the inter-alpha-trypsin inhibitor, V. Attachments of carbohydrates in the human urinary trypsin inhibitor isolated by affinity chromatography.", "journal": "Hoppe-Seyler's Zeitschrift fur physiologische Chemie", "date": "1981", "authors": "Hochstrasser K, Schonberger OL, Rossmanith I, Wachter E", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760#ptm_processing" }, { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "6171497", "url": "https://glygen.org/publication/PubMed/6171497" } ] }, { "title": "The complete amino acid sequence of human complex-forming glycoprotein heterogeneous in charge (protein HC) from one individual.", "journal": "Arch. Biochem. Biophys.", "date": "1984", "authors": "Lopez Otin C, Grubb AO, Mendez E", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "6198962", "url": "https://glygen.org/publication/PubMed/6198962" } ] }, { "title": "Hemopexin-mediated heme uptake by liver. Characterization of the interaction of heme-hemopexin with isolated rabbit liver plasma membranes.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Smith A, Morgan WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "6480598", "url": "https://glygen.org/publication/PubMed/6480598" } ] }, { "title": "Hemin binding to serum proteins and the catalysis of interprotein transfer.", "journal": "Biochemistry", "date": "1983", "authors": "Pasternack RF, Gibbs EJ, Hoeflin E, Kosar WP, Kubera G, Skowronek CA, Wong NM, Muller-Eberhard U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "6849882", "url": "https://glygen.org/publication/PubMed/6849882" } ] }, { "title": "Haptoglobin-hemoglobin complex. Subunit interaction probed by cross-linking.", "journal": "The Journal of biological chemistry", "date": "1981", "authors": "Greer J, Liao WD, Brown WE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "7263686", "url": "https://glygen.org/publication/PubMed/7263686" } ] }, { "title": "Hemopexin-mediated transport of heme into isolated rat hepatocytes.", "journal": "The Journal of biological chemistry", "date": "1981", "authors": "Smith A, Morgan WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "7287740", "url": "https://glygen.org/publication/PubMed/7287740" } ] }, { "title": "Haemoglobin binding with haptoglobin. Unequivocal demonstration that the beta-chains of human haemoglobin bind to haptoglobin.", "journal": "The Biochemical journal", "date": "1980", "authors": "Kazim AL, Atassi MZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "7378053", "url": "https://glygen.org/publication/PubMed/7378053" } ] }, { "title": "Location of a novel type of interpolypeptide chain linkage in the human protein HC-IgA complex (HC-IgA) and identification of a heterogeneous chromophore associated with the complex.", "journal": "J. Biol. Chem.", "date": "1994", "authors": "Calero M, Escribano J, Grubb A, Mendez E", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "7506257", "url": "https://glygen.org/publication/PubMed/7506257" } ] }, { "title": "Chondroitin sulphate covalently cross-links the three polypeptide chains of inter-alpha-trypsin inhibitor.", "journal": "Eur. J. Biochem.", "date": "1994", "authors": "Morelle W, Capon C, Balduyck M, Sautiere P, Kouach M, Michalski C, Fournet B, Mizon J", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "7513643", "url": "https://glygen.org/publication/PubMed/7513643" } ] }, { "title": "Formation of the alpha 1-microglobulin chromophore in mammalian and insect cells: a novel post-translational mechanism?", "journal": "FEBS letters", "date": "1995", "authors": "Akerstrom B, Bratt T, Enghild JJ", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "7535251", "url": "https://glygen.org/publication/PubMed/7535251" } ] }, { "title": "Characterization of uronic-acid-rich inhibitor of calcium oxalate crystallization isolated from rat urine.", "journal": "Urological research", "date": "1995", "authors": "Atmani F, Khan S R", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "7676539", "url": "https://glygen.org/publication/PubMed/7676539" } ] }, { "title": "Presence of the protein-glycosaminoglycan-protein covalent cross-link in the inter-alpha-inhibitor-related proteinase inhibitor heavy chain 2/bikunin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Enghild JJ, Salvesen G, Thogersen IB, Valnickova Z, Pizzo SV, Hefta SA", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760#ptm_processing" }, { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "7682553", "url": "https://glygen.org/publication/PubMed/7682553" } ] }, { "title": "In vivo fate of hemopexin and heme-hemopexin complexes in the rat.", "journal": "Archives of biochemistry and biophysics", "date": "1993", "authors": "Potter D, Chroneos ZC, Baynes JW, Sinclair PR, Gorman N, Liem HH, Muller-Eberhard U, Thorpe SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "8424694", "url": "https://glygen.org/publication/PubMed/8424694" } ] }, { "title": "Role of hemopexin in protection of low-density lipoprotein against hemoglobin-induced oxidation.", "journal": "Biochemistry", "date": "1996", "authors": "Miller YI, Smith A, Morgan WT, Shaklai N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "8855948", "url": "https://glygen.org/publication/PubMed/8855948" } ] }, { "title": "Prothrombin, albumin and immunoglobulin A form covalent complexes with alpha1-microglobulin in human plasma.", "journal": "Eur. J. Biochem.", "date": "1997", "authors": "Bergg\u00e5rd T, Thelin N, Falkenberg C, Enghild J J, Akerstr\u00f6m B", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "9183005", "url": "https://glygen.org/publication/PubMed/9183005" } ] }, { "title": "The crystal structure of bikunin from the inter-alpha-inhibitor complex: a serine protease inhibitor with two Kunitz domains.", "journal": "J. Mol. Biol.", "date": "1998", "authors": "Xu Y, Carr PD, Guss JM, Ollis DL", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "reference": [ { "type": "PubMed", "id": "9566199", "url": "https://glygen.org/publication/PubMed/9566199" } ] }, { "title": "Transfer of heme from heme-albumin to hemopexin.", "journal": "Biochimica et biophysica acta", "date": "1976", "authors": "Morgan WT, Liem HH, Sutor RP, Muller-Ebergard U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2168880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880" } ], "reference": [ { "type": "PubMed", "id": "971416", "url": "https://glygen.org/publication/PubMed/971416" } ] } ], "pathway": [ { "id": "hsa:259", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:259", "resource": "KEGG Pathway" }, { "id": "R-HSA-2168880", "name": "Scavenging of heme from plasma", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2168880", "resource": "Reactome", "description": "Scavenging of heme from plasma" } ], "orthologs": [ { "uniprot_canonical_ac": "Q07456-1", "protein_name": "Protein AMBP", "gene_name": "Ambp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQGLRTLFLLLTACLASRADPASTLPDIQVQENFSESRIYGKWYNLAVGSTCPWLSRIKDKMSVSTLVLQEGATETEISMTSTRWRRGVCEEITGAYQKTDIDGKFLYHKSKWNITLESYVVHTNYDEYAIFLTKKSSHHHGLTITAKLYGREPQLRDSLLQEFKDVALNVGISENSIIFMPDRGECVPGDREVEPTSIARARRAVLPQESEGSGTEPLITGTLKKEDSCQLNYSEGPCLGMQERYYYNGASMACETFQYGGCLGNGNNFISEKDCLQTCRTIAACNLPIVQGPCRAFIKLWAFDAAQGKCIQFHYGGCKGNGNKFYSEKECKEYCGVPGDGYEELIRS", "length": 349 }, "evidence": [ { "id": "45920683", "url": "http://www.informatics.jax.org/homology/45920683", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q64240-1", "protein_name": "Protein AMBP", "gene_name": "Ambp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQGLGALFLLLTACLTLKADNVPTLPDIQVQENFNEARIYGKWFNLAVGSTCPWLRRIKNKMSVSTLVLQEGATEAEISVTSTQWRKGVCEEISGVYQKTDIDGKFLYHKSKWNATLESYVVHTNYDEYAIFLTKKFSHRHGPTITAKLYGREPQLRDSLLQEFREVALSVGIPENSIVFMADRGECVPGDREVESTSFARARRAVLPQENEGSGSEPLITGTLKKEDSCQLNYSEGPCLGMQQKYYYNGASMACETFQYGGCLGNGNNFASEKECLQTCRTIAACNLPIVQGPCRAFAELWAFDAAQGKCIQFIYGGCKGNGNKFYSEKECKEYCGVPGDGYEELTRS", "length": 349 }, "evidence": [ { "id": "45920683", "url": "http://www.informatics.jax.org/homology/45920683", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "calcium channel inhibitor activity", "id": "GO:0019855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019855", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "IgA binding", "id": "GO:0019862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019862", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "calcium oxalate binding", "id": "GO:0046904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046904", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 11, "go_terms": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "heme catabolic process", "id": "GO:0042167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042167", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "protein AMBP N-glycosylated 1 (human)", "definition": "A protein AMBP (human) that has been N-glycosylated at the residue equivalent to Asn-115 of the amino acid sequence represented by UniProtKB:P02760-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02760-1, Asn-115, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000052837", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052837" } ] }, { "name": "protein AMBP N-glycosylated 2 (human)", "definition": "A protein AMBP (human) that has been N-glycosylated at the residue equivalent to Asn-250 of the amino acid sequence represented by UniProtKB:P02760-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02760-1, Asn-250, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000052838", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052838" } ] }, { "name": "protein AMBP O-glycosylated 1 (human)", "definition": "A protein AMBP (human) that has been O-glycosylated at the residue equivalent to Thr-24 of the amino acid sequence represented by UniProtKB:P02760-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02760-1, Thr-24, MOD:00005~GNO:G17015OC. [PRO:DNx, PMID:26598643, PMID:30459171]", "evidence": [ { "id": "PR:000052839", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052839" } ] }, { "name": "protein AMBP O-glycosylated 2 (human)", "definition": "A protein AMBP (human) that has been O-glycosylated at the residue equivalent to Thr-24 of the amino acid sequence represented by UniProtKB:P02760-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02760-1, Thr-24, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:26598643, PMID:30459171]", "evidence": [ { "id": "PR:000052840", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052840" } ] }, { "name": "protein AMBP O-glycosylated 3 (human)", "definition": "A protein AMBP (human) that has been O-glycosylated at the residue equivalent to Thr-24 of the amino acid sequence represented by UniProtKB:P02760-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P02760-1, Thr-24, MOD:00005~GNO:G58001LT. [PRO:DNx, PMID:26598643, PMID:30459171]", "evidence": [ { "id": "PR:000052841", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052841" } ] } ], "site_annotation": [ { "start_pos": 115, "end_pos": 117, "annotation": "n_glycosylation_sequon" }, { "start_pos": 250, "end_pos": 252, "annotation": "n_glycosylation_sequon" }, { "start_pos": 36, "end_pos": 38, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "3-hydroxykynurenine, an oxidized tryptophan metabolite that is common in biological fluids, reacts with Cys-53, Lys-111, Lys-137, and Lys-149 to form heterogeneous polycyclic chromophores including hydroxanthommatin. The reaction by alpha-1-microglobulin is autocatalytic; the human protein forms chromophore even when expressed in insect and bacterial cells. The chromophore can react with accessible cysteines forming non-reducible thioether cross-links with other molecules of alpha-1-microglobulin or with other proteins such as Ig alpha-1 chain C region 'Cys-352'.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "1714898", "url": "https://glygen.org/publication/PubMed/1714898" }, { "database": "PubMed", "id": "10631976", "url": "https://glygen.org/publication/PubMed/10631976" }, { "database": "PubMed", "id": "7535251", "url": "https://glygen.org/publication/PubMed/7535251" } ] }, { "annotation": "Heavy chains are interlinked with bikunin via a chondroitin 4-sulfate bridge to the C-terminal aspartate.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "1898736", "url": "https://glygen.org/publication/PubMed/1898736" }, { "database": "PubMed", "id": "7682553", "url": "https://glygen.org/publication/PubMed/7682553" }, { "database": "PubMed", "id": "6171497", "url": "https://glygen.org/publication/PubMed/6171497" } ] }, { "annotation": "N-glycosylated. N-glycan heterogeneity at Asn-115: Hex5HexNAc4 (major), Hex6HexNAc5 (minor) and dHex1Hex6HexNAc5 (minor). N-glycan at Asn-250: Hex5HexNAc4.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "1694784", "url": "https://glygen.org/publication/PubMed/1694784" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" }, { "database": "PubMed", "id": "6171497", "url": "https://glygen.org/publication/PubMed/6171497" } ] }, { "annotation": "O-glycosylated. O-linkage of the glycosaminoglycan, chondroitin sulfate, at Ser-215 allows cross-linking between the three polypeptide chains.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "1898736", "url": "https://glygen.org/publication/PubMed/1898736" }, { "database": "PubMed", "id": "7682553", "url": "https://glygen.org/publication/PubMed/7682553" }, { "database": "PubMed", "id": "1694784", "url": "https://glygen.org/publication/PubMed/1694784" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" }, { "database": "PubMed", "id": "6171497", "url": "https://glygen.org/publication/PubMed/6171497" } ] }, { "annotation": "Proteolytically cleaved by PRSS3 at Kunitz domain 2.", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "25301953", "url": "https://glygen.org/publication/PubMed/25301953" } ] }, { "annotation": "Proteolytically cleaved in the presence of oxyhemoglobin or MPO (PubMed:11877257, PubMed:25698971). The cleaved form t-alpha-1-microglobulin lacks the C-terminal tetrapeptide LIPR and is released from IgA-alpha-1-microglobulin complex as well as from free alpha-1-microglobulin when exposed to oxyhemoglobin or erythrocyte membranes. The cleavage of IgA-alpha-1-microglobulin complex is associated with the reduction of the covalent bond between IgA and alpha-1-microglobulin, yielding an intact IgA molecule (PubMed:11877257). The cleavage by MPO is associated with the transfer of heme group from MPO to t-alpha-1-microglobulin (PubMed:25698971). t-alpha-1-microglobulin has higher reductase activity when compared with full length protein (PubMed:15683711).", "evidence": [ { "database": "UniProtKB", "id": "P02760", "url": "https://www.uniprot.org/uniprot/P02760" }, { "database": "PubMed", "id": "11877257", "url": "https://glygen.org/publication/PubMed/11877257" }, { "database": "PubMed", "id": "15683711", "url": "https://glygen.org/publication/PubMed/15683711" }, { "database": "PubMed", "id": "25698971", "url": "https://glygen.org/publication/PubMed/25698971" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 36, 115, 250 ], "o_linked_sites": [ 24, 215, 252, 258 ], "snv_sites": [ 24, 36, 48, 115, 117, 179, 215, 252, 258, 269, 282 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 115, "end_pos": 117 }, { "start_pos": 250, "end_pos": 252 }, { "start_pos": 36, "end_pos": 38 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 49 }, { "field": "total_sites", "count": 7 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 44 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 32 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 8 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 11 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 15 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 91 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }