{ "uniprot_canonical_ac": "O95342-1", "uniprot_ac": "O95342", "uniprot_id": "ABCBB_HUMAN", "mass": { "chemical_mass": 146407.0, "monoisotopic_mass": 146407.0 }, "refseq": { "ac": "NP_003733", "name": "bile salt export pump", "summary": "The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" }, "gene_names": [ { "name": "ABCB11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95342", "id": "O95342" }, { "name": "ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4; SPGP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733", "id": "NP_003733" }, { "name": "ABCB11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733", "id": "NP_003733" }, { "name": "BSEP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95342", "id": "O95342" } ], "protein_names": [ { "name": "Bile salt export pump", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95342" }, { "name": "7.6.2.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95342" }, { "name": "ATP-binding cassette sub-family B member 11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95342" }, { "name": "bile salt export pump", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733", "id": "NP_003733" }, { "name": "progressive familial intrahepatic cholestasis 2; ABC member 16, MDR/TAP subfamily; sister p-glycoprotein; ATP-binding cassette sub-family B member 11; ATP-binding cassette, sub-family B (MDR/TAP), member 11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733", "id": "NP_003733" } ], "function": [ { "annotation": "A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.", "evidence": [ { "database": "RefSeq", "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" }, { "database": "PubMed", "id": "35153175", "url": "https://glygen.org/publication/PubMed/35153175" } ] }, { "annotation": "Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269).", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342#function" }, { "database": "PubMed", "id": "32203132", "url": "https://glygen.org/publication/PubMed/32203132" }, { "database": "PubMed", "id": "15791618", "url": "https://glygen.org/publication/PubMed/15791618" }, { "database": "PubMed", "id": "22262466", "url": "https://glygen.org/publication/PubMed/22262466" }, { "database": "PubMed", "id": "20398791", "url": "https://glygen.org/publication/PubMed/20398791" }, { "database": "PubMed", "id": "20010382", "url": "https://glygen.org/publication/PubMed/20010382" }, { "database": "PubMed", "id": "18245269", "url": "https://glygen.org/publication/PubMed/18245269" }, { "database": "PubMed", "id": "29507376", "url": "https://glygen.org/publication/PubMed/29507376" }, { "database": "PubMed", "id": "18985798", "url": "https://glygen.org/publication/PubMed/18985798" }, { "database": "PubMed", "id": "19228692", "url": "https://glygen.org/publication/PubMed/19228692" }, { "database": "PubMed", "id": "16332456", "url": "https://glygen.org/publication/PubMed/16332456" }, { "database": "PubMed", "id": "24711118", "url": "https://glygen.org/publication/PubMed/24711118" }, { "database": "PubMed", "id": "15901796", "url": "https://glygen.org/publication/PubMed/15901796" } ] }, { "annotation": "Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.", "evidence": [ { "database": "RefSeq", "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" }, { "database": "PubMed", "id": "35894240", "url": "https://glygen.org/publication/PubMed/35894240" } ] }, { "annotation": "Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" }, { "database": "PubMed", "id": "36995996", "url": "https://glygen.org/publication/PubMed/36995996" } ] }, { "annotation": "Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" }, { "database": "PubMed", "id": "37949847", "url": "https://glygen.org/publication/PubMed/37949847" } ] }, { "annotation": "The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733" } ] } ], "disease": [ { "disease_id": "DOID:0070222", "recommended_name": { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "progressive familial intrahepatic cholestasis 2", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "BSEP deficiency", "description": "" }, { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "ABCB11 progressive familial intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "BSEP deficiency", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB11", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "severe ABCB11 deficiency", "description": "" }, { "id": "MIM:601847", "resource": "MIM", "url": "https://www.omim.org/entry/601847", "name": "Cholestasis, progressive familial intrahepatic, 2", "description": "Cholestasis, progressive familial intrahepatic, 2" } ], "evidence": [ { "id": "601847", "database": "MIM", "url": "https://www.omim.org/entry/601847" } ] }, { "disease_id": "DOID:0070232", "recommended_name": { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "benign recurrent intrahepatic cholestasis 2", "description": "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "BRIC type 2", "description": "" }, { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "BRIC2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "benign recurrent intrahepatic cholestasis type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "BRIC2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "Bric type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic, type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "benign recurrent intrahepatic cholestasis 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic, 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "mild ABCB11 deficiency", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "recurrent familial intrahepatic cholestasis 2", "description": "" }, { "id": "MIM:605479", "resource": "MIM", "url": "https://www.omim.org/entry/605479", "name": "Cholestasis, benign recurrent intrahepatic, 2", "description": "Cholestasis, benign recurrent intrahepatic, 2" } ], "evidence": [ { "id": "605479", "database": "MIM", "url": "https://www.omim.org/entry/605479" } ] } ], "snv": [ { "evidence": [ { "id": "rs1336006933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336006933" }, { "id": "rs1336006933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1336006933#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 111, "end_pos": 111, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNN).", "chr_id": "2", "chr_pos": "169013329", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1436681091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1436681091" }, { "id": "rs1436681091", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1436681091#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1120, "end_pos": 1120, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "2", "chr_pos": "168930717", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200709879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200709879" }, { "id": "rs200709879", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200709879" }, { "id": "rs200709879", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200709879#frequency_tab" }, { "id": "rs200709879", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200709879" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1175, "end_pos": 1175, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIK->NIT).", "chr_id": "2", "chr_pos": "168927250", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1175", "disease": [ { "disease_id": "DOID:0070222", "recommended_name": { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "progressive familial intrahepatic cholestasis 2", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "BSEP deficiency", "description": "" }, { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "ABCB11 progressive familial intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "BSEP deficiency", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB11", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "severe ABCB11 deficiency", "description": "" }, { "id": "MIM:601847", "resource": "MIM", "url": "https://www.omim.org/entry/601847", "name": "Cholestasis, progressive familial intrahepatic, 2", "description": "Cholestasis, progressive familial intrahepatic, 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1455594475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455594475" }, { "id": "rs1455594475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455594475" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->NMK).", "chr_id": "2", "chr_pos": "169013290", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1558927172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558927172" }, { "id": "rs1558927172", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1558927172" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 125, "end_pos": 125, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "chr_id": "2", "chr_pos": "169013288", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1558927163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1558927163" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 127, "end_pos": 127, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGnull).", "chr_id": "2", "chr_pos": "169013283", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T127", "disease": [ { "disease_id": "DOID:0070232", "recommended_name": { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "benign recurrent intrahepatic cholestasis 2", "description": "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "BRIC type 2", "description": "" }, { "id": "DOID:0070232", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070232", "name": "BRIC2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "benign recurrent intrahepatic cholestasis type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "BRIC2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "Bric type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic, type 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "benign recurrent intrahepatic cholestasis 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "cholestasis, benign recurrent intrahepatic, 2", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "mild ABCB11 deficiency", "description": "" }, { "id": "MONDO:0011559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011559", "name": "recurrent familial intrahepatic cholestasis 2", "description": "" }, { "id": "MIM:605479", "resource": "MIM", "url": "https://www.omim.org/entry/605479", "name": "Cholestasis, benign recurrent intrahepatic, 2", "description": "Cholestasis, benign recurrent intrahepatic, 2" } ] }, { "disease_id": "DOID:0070222", "recommended_name": { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "progressive familial intrahepatic cholestasis 2", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31." }, "synonyms": [ { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "BSEP deficiency", "description": "" }, { "id": "DOID:0070222", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070222", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "ABCB11 progressive familial intrahepatic cholestasis", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "BSEP deficiency", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "PFIC2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis caused by mutation in ABCB11", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "progressive familial intrahepatic cholestasis type 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "cholestasis, progressive familial intrahepatic, 2", "description": "" }, { "id": "MONDO:0011156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011156", "name": "severe ABCB11 deficiency", "description": "" }, { "id": "MIM:601847", "resource": "MIM", "url": "https://www.omim.org/entry/601847", "name": "Cholestasis, progressive familial intrahepatic, 2", "description": "Cholestasis, progressive familial intrahepatic, 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { 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"glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 23, "end_pos": 23, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "2", "chr_pos": "169018059", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs897172862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897172862" }, { "id": "rs897172862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs897172862#frequency_tab" }, { "id": "rs897172862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs897172862" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 262, "end_pos": 262, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "2", "chr_pos": "168990924", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772842592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772842592" }, { "id": "rs772842592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772842592" }, { "id": "rs772842592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772842592#frequency_tab" }, { "id": "rs772842592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772842592" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 522, "end_pos": 522, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "2", "chr_pos": "168971921", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D522", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753994013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753994013" }, { "id": "rs753994013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753994013" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 541, "end_pos": 541, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "2", "chr_pos": "168971863", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I541", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371319925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371319925" }, { "id": "rs371319925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371319925" }, { "id": "rs371319925", "database": "TOPMed", "url": 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filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "2", "chr_pos": "168968460", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T681", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1464361566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1464361566" }, { "id": "rs1464361566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1464361566" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 717, "end_pos": 717, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HKS->NKS).", "chr_id": "2", "chr_pos": "168964235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H717", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs553510412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553510412" }, { "id": "rs553510412", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553510412" }, { "id": "rs553510412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs553510412" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 782, "end_pos": 782, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "2", "chr_pos": "168944960", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T782", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404740012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404740012" }, { "id": "rs1404740012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404740012#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 943, "end_pos": 943, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "2", "chr_pos": "168935413", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A943", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 1311, "end_pos": 1311, "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with AP2A1 and AP2A2. Promotes ABCB11 plasma membrane trafficking. Does not affect plasma membrane localization. Inhibits ABCB11 internalization.", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "22262466", "url": "https://glygen.org/publication/PubMed/22262466" } ] }, { "start_pos": 1, "end_pos": 441, "sequence_org": "MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDL", "sequence_mut": "", "comment": "Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability.", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "32203132", "url": "https://glygen.org/publication/PubMed/32203132" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "49.26", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "45.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "48.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "58.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "39.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "35.38", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "31.53", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "53.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95342" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95342" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95342", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95342" } ], "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": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "common_name": "Human" } ], "gene": [ { "name": "ABCB11", "url": "https://www.uniprot.org/uniprot/O95342", "locus": { "chromosome": "HSCHR2_1_CTG7_2", "start_pos": 109565, "end_pos": 123060, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000276582", "url": "https://www.ensembl.org/id/ENSG00000276582" } ] } } ], "crossref": [ { "id": "ENSG00000073734", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000073734", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd03249", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03249", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18577", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18577", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18578", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18578", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL6020", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL6020", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ABCB11", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCB11", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8647", "url": "https://www.ncbi.nlm.nih.gov/gene/8647", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "42", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=42", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95342", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95342*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003439", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003439", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003593", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003593", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011527", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011527", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036640", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036640", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039421", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039421", "database": "InterPro", "categories": [ "Protein 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24221:SF165", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24221:SF165", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24222", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24222", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24222:SF76", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24222:SF76", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6LR0", "url": "https://www.rcsb.org/structure/6LR0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DV5", "url": "https://www.rcsb.org/structure/7DV5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E1A", "url": "https://www.rcsb.org/structure/7E1A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00005", "url": "http://pfam.xfam.org/family/PF00005", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00664", "url": "http://pfam.xfam.org/family/PF00664", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95342", "url": "https://pharos.nih.gov/targets/O95342", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95342", "url": "http://purl.obolibrary.org/obo/PR_O95342", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-159418", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159418", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5678520", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678520", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003733", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "50048", "url": "https://www.rhea-db.org/rhea/50048", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50052", "url": "https://www.rhea-db.org/rhea/50052", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50056", "url": "https://www.rhea-db.org/rhea/50056", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50060", "url": "https://www.rhea-db.org/rhea/50060", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50064", "url": "https://www.rhea-db.org/rhea/50064", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50068", "url": "https://www.rhea-db.org/rhea/50068", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50072", "url": "https://www.rhea-db.org/rhea/50072", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50080", "url": "https://www.rhea-db.org/rhea/50080", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "50084", "url": "https://www.rhea-db.org/rhea/50084", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "63908", "url": "https://www.rhea-db.org/rhea/63908", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A3B3IS78", "url": "https://www.uniprot.org/uniprot/A0A3B3IS78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS78-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IS78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISD4", "url": "https://www.uniprot.org/uniprot/A0A3B3ISD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ISD4-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ISD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITV9", "url": "https://www.uniprot.org/uniprot/A0A3B3ITV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3ITV9-1", "url": "https://www.uniprot.org/uniprot/A0A3B3ITV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C486", "url": "https://www.uniprot.org/uniprot/H7C486", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C486-1", "url": "https://www.uniprot.org/uniprot/H7C486-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95342-1", "url": "https://www.uniprot.org/uniprot/O95342-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53S60", "url": "https://www.uniprot.org/uniprot/Q53S60", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q53S60-1", "url": "https://www.uniprot.org/uniprot/Q53S60-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS", "length": 1321, "header": "sp|O95342-1|ABCBB_HUMAN Isoform 1 of Bile salt export pump OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=2 CANONICAL=O95342-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IS78-1", "url": "", "sequence": { "sequence": "GQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVAISSLISVTRNVCLLNSHHPMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS", "length": 780, "header": "tr|A0A3B3IS78-1|ABCBB_HUMAN Computationally mapped isoform of Bile salt export pump OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=1 CANONICAL=O95342-1" }, "locus": { "chromosome": "2", "start_pos": 168970170, "end_pos": 168923625, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649448.1", "url": "https://www.ensembl.org/id/ENST00000649448.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497165.1", "url": "https://www.ensembl.org/id/ENSP00000497165.1" } ] } }, { "isoform_ac": "A0A3B3ISD4-1", "url": "", "sequence": { "sequence": "XKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKQPCCDHLDKSHTPQMAEQEDIQPDS", "length": 101, "header": "tr|A0A3B3ISD4-1|A0A3B3ISD4_HUMAN Computationally mapped isoform of ATP binding cassette subfamily B member 11 OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=1 CANONICAL=O95342-1" }, "locus": { "chromosome": "2", "start_pos": 168927234, "end_pos": 168915606, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648875.1", "url": "https://www.ensembl.org/id/ENST00000648875.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497252.1", "url": "https://www.ensembl.org/id/ENSP00000497252.1" } ] } }, { "isoform_ac": "A0A3B3ITV9-1", "url": "", "sequence": { "sequence": "XNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRDGVSPC", "length": 81, "header": "tr|A0A3B3ITV9-1|ABCBB_HUMAN Computationally mapped isoform of Bile salt export pump OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=1 CANONICAL=O95342-1" }, "locus": { "chromosome": "2", "start_pos": 168935406, "end_pos": 168932921, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647920.1", "url": "https://www.ensembl.org/id/ENST00000647920.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497947.1", "url": "https://www.ensembl.org/id/ENSP00000497947.1" } ] } }, { "isoform_ac": "H7C486-1", "url": "", "sequence": { "sequence": "DIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQGYFFQWKSEQ", "length": 72, "header": "tr|H7C486-1|ABCBB_HUMAN Computationally mapped isoform of Bile salt export pump OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=1 CANONICAL=O95342-1" }, "locus": { "chromosome": "2", "start_pos": 168972032, "end_pos": 168970327, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439188.1", "url": "https://www.ensembl.org/id/ENST00000439188.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416058.1", "url": "https://www.ensembl.org/id/ENSP00000416058.1" } ] } }, { "isoform_ac": "O95342-1", "url": "", "sequence": { "sequence": "MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS", "length": 1321, "header": "sp|O95342-1|ABCBB_HUMAN Isoform 1 of Bile salt export pump OS=Homo sapiens OX=9606 GN=ABCB11 PE=1 SV=2 CANONICAL=O95342-1" }, "locus": { "chromosome": "2", "start_pos": 169018125, "end_pos": 168923625, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650372.1", "url": "https://www.ensembl.org/id/ENST00000650372.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497931.1", "url": "https://www.ensembl.org/id/ENSP00000497931.1" } ] } }, { "isoform_ac": "Q53S60-1", "url": "", "sequence": { "sequence": 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/17082223" } ] } ], "phosphorylation": [ { "start_pos": 1214, "end_pos": 1214, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" } ], "site_lbl": "Ser1214" }, { "start_pos": 1269, "end_pos": 1269, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr1269" }, { "start_pos": 1321, "end_pos": 1321, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "site_lbl": "Ser1321" }, { "start_pos": 586, "end_pos": 586, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" } ], "site_lbl": "Thr586" }, { "start_pos": 587, "end_pos": 587, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" } ], "site_lbl": "Ser587" }, { "start_pos": 686, "end_pos": 686, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser686" }, { "start_pos": 690, "end_pos": 690, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "site_lbl": "Ser690" }, { "start_pos": 701, "end_pos": 701, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "site_lbl": "Ser701" }, { "start_pos": 704, "end_pos": 704, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" } ], "site_lbl": "Ser704" }, { "start_pos": 965, "end_pos": 965, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95342", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95342" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr965" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns.", "journal": "Genomics", "date": "1999", "authors": "Gafvels M, Olin M, Chowdhary BP, Raudsepp T, Andersson U, Persson B, Jansson M, Bjorkhem I, Eggertsen G", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "10051404", "url": "https://glygen.org/publication/PubMed/10051404" } ] }, { "title": "Identification of peroxisomal acyl-CoA thioesterases in yeast and humans.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Jones JM, Nau K, Geraghty MT, Erdmann R, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": 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Watkins PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "10479480", "url": "https://glygen.org/publication/PubMed/10479480" } ] }, { "title": "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.", "journal": "Gastroenterology", "date": "1999", "authors": "Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Muller M", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "reference": [ { "type": "PubMed", "id": "10579978", "url": "https://glygen.org/publication/PubMed/10579978" } ] }, { "title": "A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hsiang B, Zhu Y, Wang Z, Wu Y, Sasseville V, Yang WP, Kirchgessner TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-159418", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159418" } ], "reference": [ { "type": "PubMed", "id": "10601278", "url": "https://glygen.org/publication/PubMed/10601278" } ] }, { "title": "Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.", "journal": "Nature genetics", "date": "2000", "authors": "Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": 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"11060344", "url": "https://glygen.org/publication/PubMed/11060344" } ] }, { "title": "The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "11067870", "url": "https://glygen.org/publication/PubMed/11067870" } ] }, { "title": "Human types 1 and 3 3 alpha-hydroxysteroid dehydrogenases: differential lability and tissue distribution.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Dufort I, Labrie F, Luu-The V", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "11158055", "url": "https://glygen.org/publication/PubMed/11158055" } ] }, { "title": "Organic anion-transporting polypeptide B (OATP-B) and its functional comparison with three other OATPs of human liver.", "journal": "Gastroenterology", "date": "2001", "authors": "Kullak-Ublick GA, Ismair MG, Stieger B, Landmann L, Huber R, Pizzagalli F, Fattinger K, Meier PJ, Hagenbuch B", "evidence": [ { "database": "Reactome", "id": "R-HSA-159418", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159418" } ], "reference": [ { "type": "PubMed", "id": "11159893", "url": "https://glygen.org/publication/PubMed/11159893" } ] }, { "title": "Human bile salt export pump promoter is transactivated by the farnesoid X receptor/bile acid receptor.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ananthanarayanan M, Balasubramanian N, Makishima M, Mangelsdorf DJ, Suchy FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-159418", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159418" } ], "reference": [ { "type": "PubMed", "id": "11387316", "url": "https://glygen.org/publication/PubMed/11387316" } ] }, { "title": "Characterization of an acyl-coA thioesterase that functions as a major regulator of peroxisomal lipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hunt MC, Solaas K, Kase BF, Alexson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-193368", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193368" } ], "reference": [ { "type": "PubMed", "id": "11673457", "url": "https://glygen.org/publication/PubMed/11673457" } ] }, { "title": "FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.", "journal": "The Journal of pediatrics", "date": "2002", "authors": "Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, Jeng YM, Shau WY, Chang MH", "evidence": [ { 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], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "intercellular canaliculus", "id": "GO:0046581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046581", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "intracellular canaliculus", "id": "GO:0046691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046691", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "bile acid signaling pathway", "id": "GO:0038183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038183", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "phospholipid homeostasis", "id": "GO:0055091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055091", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "regulation of bile acid metabolic process", "id": "GO:1904251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904251", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "regulation of fatty acid beta-oxidation", "id": "GO:0031998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031998", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "xenobiotic export from cell", "id": "GO:0046618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046618", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" }, { "name": "positive regulation of bile acid secretion", "id": "GO:0120189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120189", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 109, "end_pos": 111, "annotation": "n_glycosylation_sequon" }, { "start_pos": 116, "end_pos": 118, "annotation": "n_glycosylation_sequon" }, { "start_pos": 122, "end_pos": 124, "annotation": "n_glycosylation_sequon" }, { "start_pos": 125, "end_pos": 127, "annotation": "n_glycosylation_sequon" }, { "start_pos": 375, "end_pos": 377, "annotation": "n_glycosylation_sequon" }, { "start_pos": 424, "end_pos": 426, "annotation": "n_glycosylation_sequon" }, { "start_pos": 591, "end_pos": 593, "annotation": "n_glycosylation_sequon" }, { "start_pos": 765, "end_pos": 767, "annotation": "n_glycosylation_sequon" }, { "start_pos": 885, "end_pos": 887, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "15791618", "url": "https://glygen.org/publication/PubMed/15791618" }, { "database": "PubMed", "id": "18829893", "url": "https://glygen.org/publication/PubMed/18829893" } ] }, { "annotation": "Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.", "evidence": [ { "database": "UniProtKB", "id": "O95342", "url": "https://www.uniprot.org/uniprot/O95342" }, { "database": "PubMed", "id": "18829893", "url": "https://glygen.org/publication/PubMed/18829893" } ] } ], "interactions": [], "reactions": [ { "id": "50048", "name": "", "equation": "ATP + cholate(in) + H2O = ADP + cholate(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50048", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50048" } ] }, { "id": "50052", "name": "", "equation": "ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O88563-1", "O95342-1", "O15438-1", "O94911-3", "Q96J66-1", "Q9QY30-1", "Q8K440-1", "Q8K442-1", "B2RX12-1" ], "evidence": [ { "id": "50052", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50052" } ] }, { "id": "50056", "name": "", "equation": "ATP + glycocholate(in) + H2O = ADP + glycocholate(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O88563-1", "O95342-1", "O15438-1", "Q96J66-1", "Q9QY30-1", "B2RX12-1" ], "evidence": [ { "id": "50056", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50056" } ] }, { "id": "50060", "name": "", "equation": "ATP + glycochenodeoxycholate(in) + H2O = ADP + glycochenodeoxycholate(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50060", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50060" } ] }, { "id": "50064", "name": "", "equation": "ATP + H2O + taurochenodeoxycholate(in) = ADP + H(+) + phosphate + taurochenodeoxycholate(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50064", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50064" } ] }, { "id": "50068", "name": "", "equation": "ATP + glycoursodeoxycholate(in) + H2O = ADP + glycoursodeoxycholate(out) + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50068", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50068" } ] }, { "id": "50072", "name": "", "equation": "ATP + H2O + tauroursodeoxycholate(in) = ADP + H(+) + phosphate + tauroursodeoxycholate(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50072", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50072" } ] }, { "id": "50080", "name": "", "equation": "ATP + H2O + taurodeoxycholate(in) = ADP + H(+) + phosphate + taurodeoxycholate(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "50080", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50080" } ] }, { "id": "50084", "name": "", "equation": "ATP + H2O + taurolithocholate 3-sulfate(in) = ADP + H(+) + phosphate + taurolithocholate 3-sulfate(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q63120-1", "O88563-1", "O95342-1", "Q92887-1", "O15438-1", "Q9QY30-1", "Q8VI47-1", "B2RX12-1" ], "evidence": [ { "id": "50084", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50084" } ] }, { "id": "63908", "name": "", "equation": "ATP + H2O + pravastatin(in) = ADP + H(+) + phosphate + pravastatin(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O70127-1", "O95342-1", "Q9QY30-1" ], "evidence": [ { "id": "63908", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/63908" } ] }, { "id": "R-HSA-193362", "name": "ABCB11 transports bile salts from cytosol to extracellular region", "equation": "", "summary": "A molecule of glycocholate, glycochenodeoxycholate, taurocholate, or taurochenodeoxycholate is transported from the cytosol to the extracellular space, coupled to the hydrolysis of a molecule of cytosolic ATP to ADP and orthophosphate. This reaction is mediated by ABCB11 (bile salt export pump). In the body, this reaction mediates the release of bile salts from the liver cells into the bile (Kullak-Ublick et al. 2004); the role of ABCB11 in the reaction is confirmed by the observed failure of bile salt export in patients in whom the transporter is defective (Noe et al. 2005).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95342-1" ], "evidence": [ { "id": "R-HSA-193362", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193362" } ] }, { "id": "R-HSA-5678517", "name": "Defective ABCB11 does not transport bile salts from cytosol to extracellular region", "equation": "", "summary": "The bile salt export pump ABCB11 mediates the release of bile salts from liver cells into bile. Defects in ABCB11 can cause two clinically distinct forms of cholestasis; progressive familial intrahepatic cholestasis 2 (PFIC2; MIM:601847) and benign recurrent intrahepatic cholestasis 2 (BRIC2; MIM:605479). Cholestasis is characterized by the retention of bile acids or salts. Bile acids can damage hepatocytes and bile duct cells leading to inflammation, fibrosis, cirrhosis and eventually carcinogenesis. Mutations causing PFIC2 include R575* and R1057* (Noe et al. 2005). Mutations causing BRIC2 include E297G and R432T (Strautnieks et al. 1998).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95342-1" ], "evidence": [ { "id": "R-HSA-5678517", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678517" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "B2RX12", "gene_name": "Abcc3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "B2RX12", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RX12" } ] } ] }, { "uniprot_ac": "O15438", "gene_name": "ABCC3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O15438", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15438" } ] } ] }, { "uniprot_ac": "O70127", "gene_name": "Abcb11", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O70127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70127" } ] } ] }, { "uniprot_ac": "O88563", "gene_name": "Abcc3", "activity": [ { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] }, { "ec_number": "7.6.2.2", "activity": "", "evidence": [ { "id": "O88563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88563" } ] } ] }, { "uniprot_ac": "O94911", "gene_name": "ABCA8", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O94911", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94911" } ] } ] }, { "uniprot_ac": "O95342", "gene_name": "ABCB11", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "O95342", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95342" } ] } ] }, { "uniprot_ac": "Q63120", "gene_name": "Abcc2", "activity": [ { "ec_number": "7.6.2.3", "activity": "an S-substituted glutathione(in) + ATP + H2O = ADP + an S-substituted glutathione(out) + H(+) + phosphate.", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.3", "activity": "", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.2", "activity": "ATP + daunorubicin(in) + H2O = ADP + daunorubicin(out) + H(+) + phosphate.", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q63120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63120" } ] }, { 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}