{ "uniprot_canonical_ac": "P01009-1", "uniprot_ac": "P01009", "uniprot_id": "A1AT_HUMAN", "mass": { "chemical_mass": 46737.0, "monoisotopic_mass": 46737.0 }, "refseq": { "ac": "NP_000286", "name": "alpha-1-antitrypsin precursor", "summary": "The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286" }, "gene_names": [ { "name": "SERPINA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" }, { "name": "A1A; A1AT; AAT; alpha1AT; nNIF; PI; PI1; PRO2275", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286", "id": "NP_000286" }, { "name": "AAT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" }, { "name": "PI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" }, { "name": "PRO0684", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" }, { "name": "PRO2209", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" }, { "name": "SERPINA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286", "id": "NP_000286" }, { "name": "hCG_2029168", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01009", "id": "P01009" } ], "protein_names": [ { "name": "Alpha-1-antitrypsin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01009" }, { "name": "Alpha-1 protease inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01009" }, { "name": "Alpha-1-antiproteinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01009" }, { "name": "Serpin A1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01009" }, { "name": "alpha-1-antitrypsin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286", "id": "NP_000286" }, { "name": "protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1; alpha-1 antitrypsin; serine (or cysteine) proteinase inhibitor, clade A, member 1; alpha-1 proteinase inhibitor; serpin A1; epididymis secretory sperm binding protein; alpha-1-antiproteinase; alpha-1 protease inhibitor; serpin peptidase inhibitor clade A member 1; serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286", "id": "NP_000286" } ], "function": [ { "annotation": "AAT: does it have a place in acute leukemia?", "evidence": [ { "database": "RefSeq", "id": "NP_000286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286" }, { "database": "PubMed", "id": "38197403", "url": "https://glygen.org/publication/PubMed/38197403" } ] }, { "annotation": "Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009#function" } ] }, { "annotation": "Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286" }, { "database": "PubMed", "id": "38031954", "url": "https://glygen.org/publication/PubMed/38031954" } ] }, { "annotation": "Neonatal cholestasis in children with Alpha-1-AT deficiency is a risk for earlier severe liver disease with male predominance. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286" }, { "database": "PubMed", "id": "38055647", "url": "https://glygen.org/publication/PubMed/38055647" } ] }, { "annotation": "Reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009#function" } ] }, { "annotation": "The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000286" } ] } ], "disease": [ { "disease_id": "DOID:13372", "recommended_name": { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." }, "synonyms": [ { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha 1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis." }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A-1ATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1AD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha 1-antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "deficiency in Alpa-1-proteinase inhibitor", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema-cirrhosis, due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "hemorrhagic diathesis due to antithrombin pittsburgh", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1AT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1ATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "AATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "ALPHA-1-antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha 1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha-1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha-1-antitrypsin deficiency", "description": "" }, { "id": "MIM:613490", "resource": "MIM", "url": "https://www.omim.org/entry/613490", "name": "Alpha-1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency" } ], "evidence": [ { "id": "613490", "database": "MIM", "url": "https://www.omim.org/entry/613490" } ] } ], "snv": [ { "evidence": [ { "id": "rs199422213", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199422213" }, { "id": "rs199422213", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199422213" }, { "id": "rs199422213", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199422213" }, { "id": "rs199422213", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199422213#frequency_tab" }, { "id": "rs199422213", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199422213" }, { "id": "9459000", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9459000" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 109, "end_pos": 109, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLM); o-glyco-site-loss (T->M).", "chr_id": "14", "chr_pos": "94382912", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T109", "disease": [ { "disease_id": "DOID:13372", "recommended_name": { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." }, "synonyms": [ { "id": "DOID:13372", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13372", "name": "AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha 1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency is a hereditary disease 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"url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "emphysema-cirrhosis, due to AAT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "hemorrhagic diathesis due to antithrombin pittsburgh", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1AT deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "A1ATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "AATD", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "ALPHA-1-antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha 1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "Alpha-1 antitrypsin deficiency", "description": "" }, { "id": "MONDO:0013282", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013282", "name": "alpha-1-antitrypsin deficiency", "description": "" }, { "id": "MIM:613490", "resource": "MIM", "url": "https://www.omim.org/entry/613490", "name": "Alpha-1-antitrypsin deficiency", "description": "Alpha-1-antitrypsin deficiency" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs747053324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747053324" }, { "id": "rs747053324", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747053324" }, { "id": "rs747053324", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747053324#frequency_tab" }, { "id": "rs747053324", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747053324" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 168, "end_pos": 168, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "14", "chr_pos": "94382736", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T168", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1283743503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1283743503" }, { "id": "rs1283743503", "database": "TOPMed", "url": 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"end_pos": 271, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "14", "chr_pos": "94380977", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28929471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28929471" }, { "id": "rs28929471", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs28929471" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 341, "end_pos": 341, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "14", "chr_pos": "94379508", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1374116152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374116152" }, { "id": "rs1374116152", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374116152#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 35, "end_pos": 35, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "14", "chr_pos": "94383135", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs61761869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61761869" }, { "id": "rs61761869", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61761869" }, { "id": "rs61761869", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61761869" }, { "id": "rs61761869", "database": "TOPMed", "url": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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": "P01009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01009" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P01009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01009" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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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": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P01009", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01009" } ], "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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"id": "P01009-3", "url": "https://www.uniprot.org/uniprot/P01009-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK", "length": 418, "header": "sp|P01009-1|A1AT_HUMAN Isoform 1 of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=3 CANONICAL=P01009-1" }, "isoforms": [ { "isoform_ac": "A0A024R6N5-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQATTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK", "length": 418, "header": "tr|A0A024R6N5-1|A1AT_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "HSCHR14_7_CTG1", "start_pos": 1499809, "end_pos": 1495024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628155.2", "url": "https://www.ensembl.org/id/ENST00000628155.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487579.1", "url": "https://www.ensembl.org/id/ENSP00000487579.1" } ] } }, { "isoform_ac": "A0A0B4J278-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFL", "length": 144, "header": "tr|A0A0B4J278-1|A0A0B4J278_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94382806, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557492.5", "url": "https://www.ensembl.org/id/ENST00000557492.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452452.1", "url": "https://www.ensembl.org/id/ENSP00000452452.1" } ] } }, { "isoform_ac": "A0A0G2JRN3-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQATTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKVRSP", "length": 359, "header": "tr|A0A0G2JRN3-1|A0A0G2JRN3_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "HSCHR14_7_CTG1", "start_pos": 1499809, "end_pos": 1496024, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625467.2", "url": "https://www.ensembl.org/id/ENST00000625467.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486935.1", "url": "https://www.ensembl.org/id/ENSP00000486935.1" } ] } }, { "isoform_ac": "G3V2B9-1", "url": "", "sequence": { "sequence": "MLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQG", "length": 105, "header": "tr|G3V2B9-1|A1AT_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94382979, "end_pos": 94382665, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554720.1", "url": "https://www.ensembl.org/id/ENST00000554720.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450561.1", "url": "https://www.ensembl.org/id/ENSP00000450561.1" } ] } }, { "isoform_ac": "G3V387-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIH", "length": 117, "header": "tr|G3V387-1|G3V387_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94382887, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556955.5", "url": "https://www.ensembl.org/id/ENST00000556955.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451098.1", "url": "https://www.ensembl.org/id/ENSP00000451098.1" } ] } }, { "isoform_ac": "G3V4I7-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVS", "length": 22, "header": "tr|G3V4I7-1|G3V4I7_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=4 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94383172, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557118.5", "url": "https://www.ensembl.org/id/ENST00000557118.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451826.1", "url": "https://www.ensembl.org/id/ENSP00000451826.1" } ] } }, { "isoform_ac": "G3V544-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLE", "length": 156, "header": "tr|G3V544-1|G3V544_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94382770, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556091.1", "url": "https://www.ensembl.org/id/ENST00000556091.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452169.1", "url": "https://www.ensembl.org/id/ENSP00000452169.1" } ] } }, { "isoform_ac": "G3V5R8-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGT", "length": 92, "header": "tr|G3V5R8-1|A1AT_HUMAN Computationally mapped isoform of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=1 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94382962, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553327.5", "url": "https://www.ensembl.org/id/ENST00000553327.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452480.1", "url": "https://www.ensembl.org/id/ENSP00000452480.1" } ] } }, { "isoform_ac": "P01009-1", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK", "length": 418, "header": "sp|P01009-1|A1AT_HUMAN Isoform 1 of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=3 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94378452, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404814.8", "url": "https://www.ensembl.org/id/ENST00000404814.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000385960.4", "url": "https://www.ensembl.org/id/ENSP00000385960.4" } ] } }, { "isoform_ac": "P01009-2", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKVRSP", "length": 359, "header": "sp|P01009-2|A1AT_HUMAN Isoform 2 of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=3 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94379452, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000402629.1", "url": "https://www.ensembl.org/id/ENST00000402629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000386094.1", "url": "https://www.ensembl.org/id/ENSP00000386094.1" } ] } }, { "isoform_ac": "P01009-3", "url": "", "sequence": { "sequence": "MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFSLYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGFQELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQINDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTVKVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFLENEDRR", "length": 306, "header": "sp|P01009-3|A1AT_HUMAN Isoform 3 of Alpha-1-antitrypsin OS=Homo sapiens OX=9606 GN=SERPINA1 PE=1 SV=3 CANONICAL=P01009-1" }, "locus": { "chromosome": "14", "start_pos": 94383237, "end_pos": 94380870, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000489769.1", "url": "https://www.ensembl.org/id/ENST00000489769.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451525.1", "url": "https://www.ensembl.org/id/ENSP00000451525.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G05933EN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G06247RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G07799LX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G08293MJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G09528DL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G11115RO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "34725484", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725484" } ] }, { "glytoucan_ac": "G12341GU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G12793SR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" }, { "id": "34725484", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725484" } ] }, { "glytoucan_ac": "G15038BD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009@N107", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01009@N107" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" }, { "id": "24530628", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24530628" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "34725484", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725484" } ] }, { "glytoucan_ac": "G20425TQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" }, { "id": "19838169", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19838169" } ] }, { "glytoucan_ac": "G22140GZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, "start_aa": "Asn", "end_pos": 107, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn107", "evidence": [ { "id": "P01009", "database": "UniCarbKB", "url": "" }, { "id": "19838169", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19838169" }, { "id": "20", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/20" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 107, 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-8957275", "name": "Post-translational protein phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275", "resource": "Reactome", "description": "Post-translational protein phosphorylation" } ], "orthologs": [ { "uniprot_canonical_ac": "P07758-1", "protein_name": "Alpha-1-antitrypsin 1-1", "gene_name": "Serpina1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPSISWGLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHKSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIAEAVKKLDQDTVFALANYILFKGKWKKPFDPENTEEAEFHVDESTTVKVPMMTLSGMLHVHHCSTLSSWVLLMDYAGNATAVFLLPDDGKMQHLEQTLSKELISKFLLNRRRRLAQIHFPRLSISGEYNLKTLMSPLGITRIFNNGADLSGITEENAPLKLSQAVHKAVLTIDETGTEAAAVTVLQMVPMSMPPILRFDHPFLFIIFEEHTQSPIFLGKVVDPTHK", "length": 413 }, "evidence": [ { "id": "45920693", "url": "http://www.informatics.jax.org/homology/45920693", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P17475-1", "protein_name": "Alpha-1-antiproteinase", "gene_name": "Serpina1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAPSISRGLLLLAALCCLAPSFLAEDAQETDTSQQDQSPTYRKISSNLADFAFSLYRELVHQSNTSNIFFSPMSITTAFAMLSLGSKGDTRKQILEGLEFNLTQIPEADIHKAFHHLLQTLNRPDSELQLNTGNGLFVNKNLKLVEKFLEEVKNNYHSEAFSVNFADSEEAKKVINDYVEKGTQGKIVDLMKQLDEDTVFALVNYIFFKGKWKRPFNPEHTRDADFHVDKSTTVKVPMMNRLGMFDMHYCSTLSSWVLMMDYLGNATAIFLLPDDGKMQHLEQTLTKDLISRFLLNRQTRSAILYFPKLSISGTYNLKTLLSSLGITRVFNNDADLSGITEDAPLKLSQAVHKAVLTLDERGTEAAGATVVEAVPMSLPPQVKFDHPFIFMIVESETQSPLFVGKVIDPTR", "length": 411 }, "evidence": [ { "id": "45920687", "url": "http://www.informatics.jax.org/homology/45920687", "database": "MGI" }, { "id": "45920693", "url": "http://www.informatics.jax.org/homology/45920693", "database": "MGI" }, { "id": "45920694", "url": "http://www.informatics.jax.org/homology/45920694", "database": "MGI" }, { "id": "45920691", "url": "http://www.informatics.jax.org/homology/45920691", "database": "MGI" }, { "id": "45920692", "url": "http://www.informatics.jax.org/homology/45920692", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P22599-1", "protein_name": "Alpha-1-antitrypsin 1-2", "gene_name": "Serpina1b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPSISWGLLLLAGLCCMVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHKSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKELDQDTVFALANYILFKGKWKKPFDPENTEEAEFHVDKSTTVKVPMMMLSGMLDVHHCSILSSWVLLMDYAGNASAVFLLPEDGKMQHLEQTLNKELISKILLNRRRRLVQIHIPRLSISGDYNLKTLMSPLGITRIFNNGADLSGITEENAPLKLSKAVHKAVLTIDETGTEAAAATVFEAVPMSMPPILRFDHPFLFIIFEEHTQSPIFVGKVVDPTHK", "length": 413 }, "evidence": [ { "id": "45920692", "url": "http://www.informatics.jax.org/homology/45920692", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q00896-1", "protein_name": "Alpha-1-antitrypsin 1-3", "gene_name": "Serpina1c", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPSISWGLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHKSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLDQDTVFALANYILFKGKWKKPFDPENTEEAEFHVDESTTVKVPMMTLSGMLDVHHCSTLSSWVLLMDYAGNATAVFLLPDDGKMQHLEQTLSKELISKFLLNRRRRLAQIHFPRLSISGEYNLKTLMSPLGITRIFNNGADLSGITEENAPLKLSQAVHKAVLTIDETGTEAAAVTVLLAVPYSMPPILRFDHPFLFIIFEEHTQSPLFVGKVVDPTH", "length": 412 }, "evidence": [ { "id": "45920694", "url": "http://www.informatics.jax.org/homology/45920694", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q00897-1", "protein_name": "Alpha-1-antitrypsin 1-4", "gene_name": "Serpina1d", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPSISWSLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFALRLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHKSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLDQDTVFALANYILFKGKWKQPFDPENTEEAEFHVDESTTVKVPMMTLSGMLDVHHCSMLSSWVLLMDYAGNTTAVFLLPDDGKMQHLEQTLNKELISQFLLNRRRSDAQIHIPRLSISGNYNLKTLMSPLGITRIFNNGADLSGITEENAPLKLSKAVHKAVLTIDETGTEAAAATVLQVATYSMPPIVRFDHPFLFIIFEEHTQSPIFVGKVVDPTHK", "length": 413 }, "evidence": [ { "id": "45920687", "url": "http://www.informatics.jax.org/homology/45920687", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q00898-1", "protein_name": "Alpha-1-antitrypsin 1-5", "gene_name": "Serpina1e", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTPSISWCLLLLAGLCCLVPSFLAEDVQETDTSQKDQSPASHEIATNLGDFAISLYRELVHQSNTSNIFFSPVSIATAFAMLSLGSKGDTHTQILEGLQFNLTQTSEADIHNSFQHLLQTLNRPDSELQLSTGNGLFVNNDLKLVEKFLEEAKNHYQAEVFSVNFAESEEAKKVINDFVEKGTQGKIVEAVKKLEQDTVFVLANYILFKGKWKKPFDPENTKQAEFHVDESTTVKVPMMTLSGMLDVHHCSTLSSWVLLMDYAGNATAVFLLPDDGKMQHLEQTLNKELISKFLLNRRRRLAQIHIPRLSISGNYNLETLMSPLGITRIFNSGADLSGITEENAPLKLSQAVHKAVLTIDETGTEAAAATVLQGGFLSMPPILHFNRPFLFIIFEEHSQSPLFVGKVVDPTHK", "length": 413 }, "evidence": [ { "id": "45920691", "url": "http://www.informatics.jax.org/homology/45920691", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "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": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "COPII-coated ER to Golgi transport vesicle", "id": "GO:0030134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030134", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "alpha-1-antitrypsin N-glycosylated 1 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051374", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051374" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 2 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000051375", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051375" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 3 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G36131WL. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000051376", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051376" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 4 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G36191CD. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051377", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051377" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 5 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G78059CC. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051378", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051378" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 6 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051379", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051379" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 7 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-107 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G92821YI. Example: UniProtKB:P01009-1, Asn-107, MOD:00160~GNO:G92821YI. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051380", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051380" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 8 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:22171320, PMID:24841998, PMID:26791533, PMID:29671580]", "evidence": [ { "id": "PR:000051381", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051381" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 9 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051382", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051382" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 10 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051383", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051383" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 11 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320, PMID:24841998, PMID:29671580]", "evidence": [ { "id": "PR:000051384", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051384" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 12 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000051385", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051385" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 13 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051386", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051386" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 14 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G36191CD. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051387", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051387" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 15 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000051388", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051388" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 16 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G45504EY. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G45504EY. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051389", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051389" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 17 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051390", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051390" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 18 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G78059CC. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051391", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051391" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 19 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051392", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051392" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 20 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051393", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051393" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 21 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G92821YI. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G92821YI. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051394", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051394" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 22 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-271 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P01009-1, Asn-271, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051395", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051395" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 23 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051396", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051396" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 24 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000051397", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051397" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 25 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]", "evidence": [ { "id": "PR:000051398", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051398" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 26 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G36191CD. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051399", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051399" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 27 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G78059CC. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051400", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051400" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 28 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G84467IZ. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051401", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051401" } ] }, { "name": "alpha-1-antitrypsin N-glycosylated 29 (human)", "definition": "An alpha-1-antitrypsin (human) that has been N-glycosylated at the residue equivalent to Asn-70 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan structure is represented by GlyTouCan:G92821YI. Example: UniProtKB:P01009-1, Asn-70, MOD:00160~GNO:G92821YI. [PRO:DNx, PMID:6966283, PMID:8390218]", "evidence": [ { "id": "PR:000051402", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051402" } ] }, { "name": "alpha-1-antitrypsin O-glycosylated 1 (human)", "definition": "An alpha-1-antitrypsin (human) that has been O-glycosylated at the residue equivalent to Thr-109 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01009-1, Thr-109, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051403", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051403" } ] }, { "name": "alpha-1-antitrypsin O-glycosylated 2 (human)", "definition": "An alpha-1-antitrypsin (human) that has been O-glycosylated at the residue equivalent to Thr-168 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01009-1, Thr-168, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051404", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051404" } ] }, { "name": "alpha-1-antitrypsin O-glycosylated 3 (human)", "definition": "An alpha-1-antitrypsin (human) that has been O-glycosylated at the residue equivalent to Thr-35 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P01009-1, Thr-35, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051405", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051405" } ] }, { "name": "alpha-1-antitrypsin O-glycosylated 4 (human)", "definition": "An alpha-1-antitrypsin (human) that has been O-glycosylated at the residue equivalent to Thr-35 of the amino acid sequence represented by UniProtKB:P01009-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01009-1, Thr-35, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000051406", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051406" } ] } ], "site_annotation": [ { "start_pos": 107, "end_pos": 109, "annotation": "n_glycosylation_sequon" }, { "start_pos": 271, "end_pos": 273, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "(Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases.", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" }, { "database": "PubMed", "id": "3533918", "url": "https://glygen.org/publication/PubMed/3533918" } ] }, { "annotation": "N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant.", "evidence": [ { "database": "UniProtKB", "id": "P01009", "url": "https://www.uniprot.org/uniprot/P01009" }, { "database": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" }, { "database": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "database": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "23826168", "url": "https://glygen.org/publication/PubMed/23826168" }, { "database": "PubMed", "id": "16622833", "url": "https://glygen.org/publication/PubMed/16622833" }, { "database": "PubMed", "id": "19139490", "url": "https://glygen.org/publication/PubMed/19139490" }, { "database": "PubMed", "id": "15084671", "url": "https://glygen.org/publication/PubMed/15084671" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" }, { "database": "PubMed", "id": "16263699", "url": "https://glygen.org/publication/PubMed/16263699" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Alpha-1-antitrypsin (A1AT)", "biomarker_id": "A0191", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "21459797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21459797" } ], "instances": [ { "best_biomarker_type": "diagnostic", "status": "increased A1AT level", "disease": { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, "tissue": { "name": "urine", "namespace": "UBERON", "id": "0001088", "url": "http://purl.obolibrary.org/obo/UBERON_0001088" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "21459797", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21459797" } ] } ] }, { "assessed_biomarker_entity": "Glyco-typer 50 N-glycan liver disease panel", "biomarker_id": "A0245", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "31721442", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31721442" }, { "id": "31177770", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31177770" } ], "instances": [ { "best_biomarker_type": "monitoring", "status": "MALDI-MS measured N-glycans", "disease": { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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