{ "uniprot_canonical_ac": "O15245-1", "uniprot_ac": "O15245", "uniprot_id": "S22A1_HUMAN", "mass": { "chemical_mass": 61154.0, "monoisotopic_mass": 61154.0 }, "refseq": { "ac": "NP_003048", "name": "solute carrier family 22 member 1 isoform a", "summary": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, "gene_names": [ { "name": "SLC22A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15245", "id": "O15245" }, { "name": "HOCT1; OCT1; oct1_cds", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048", "id": "NP_003048" }, { "name": "OCT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15245", "id": "O15245" }, { "name": "SLC22A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048", "id": "NP_003048" } ], "protein_names": [ { "name": "Solute carrier family 22 member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15245" }, { "name": "Organic cation transporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15245" }, { "name": "hOCT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15245" }, { "name": "organic cation transporter 1; solute carrier family 22 (organic cation transporter), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048", "id": "NP_003048" }, { "name": "solute carrier family 22 member 1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048", "id": "NP_003048" } ], "function": [ { "annotation": "Amino acids in transmembrane helix 1 confer major functional differences between human and mouse orthologs of the polyspecific membrane transporter OCT1.", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, { "database": "PubMed", "id": "35469921", "url": "https://glygen.org/publication/PubMed/35469921" } ] }, { "annotation": "Electrogenic voltage-dependent transporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics (PubMed:9260930, PubMed:9187257, PubMed:11388889, PubMed:9655880, PubMed:11408531, PubMed:15389554, PubMed:16263091, PubMed:16272756, PubMed:16581093, PubMed:19536068, PubMed:21128598, PubMed:23680637, PubMed:24961373, PubMed:34040533, PubMed:12439218, PubMed:12719534). Functions as a pH- and Na(+)-independent, bidirectional transporter (By similarity). Cation cellular uptake or release is driven by the electrochemical potential (i.e. membrane potential and concentration gradient) and substrate selectivity (By similarity). Hydrophobicity is a major requirement for recognition in polyvalent substrates and inhibitors (By similarity). Primarily expressed at the basolateral membrane of hepatocytes and proximal tubules and involved in the uptake and disposition of cationic compounds by hepatic and renal clearance from the blood flow (By similarity). Most likely functions as an uptake carrier in enterocytes contributing to the intestinal elimination of organic cations from the systemic circulation (PubMed:16263091). Transports endogenous monoamines such as N-1-methylnicotinamide (NMN), guanidine, histamine, neurotransmitters dopamine, serotonin and adrenaline (PubMed:9260930, PubMed:24961373, PubMed:35469921, PubMed:12439218). Also transports natural polyamines such as spermidine, agmatine and putrescine at low affinity, but relatively high turnover (PubMed:21128598). Involved in the hepatic uptake of vitamin B1/thiamine, hence regulating hepatic lipid and energy metabolism (PubMed:24961373). Mediates the bidirectional transport of acetylcholine (ACh) at the apical membrane of ciliated cell in airway epithelium, thereby playing a role in luminal release of ACh from bronchial epithelium (PubMed:15817714). Transports dopaminergic neuromodulators cyclo(his-pro) and salsolinol with lower efficency (PubMed:17460754). Also capable of transporting non-amine endogenous compounds such as prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) (PubMed:11907186). May contribute to the transport of cationic compounds in testes across the blood-testis-barrier (Probable). Also involved in the uptake of xenobiotics tributylmethylammonium (TBuMA), quinidine, N-methyl-quinine (NMQ), N-methyl-quinidine (NMQD) N-(4,4-azo-n-pentyl)-quinuclidine (APQ), azidoprocainamide methoiodide (AMP), N-(4,4-azo-n-pentyl)-21-deoxyajmalinium (APDA) and 4-(4-(dimethylamino)styryl)-N-methylpyridinium (ASP) (PubMed:9260930, PubMed:11408531, PubMed:15389554, PubMed:35469921).", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245#function" }, { "database": "UniProtKB", "id": "O08966", "url": "https://www.uniprot.org/uniprot/O08966#function" }, { "database": "PubMed", "id": "16272756", "url": "https://glygen.org/publication/PubMed/16272756" }, { "database": "PubMed", "id": "11408531", "url": "https://glygen.org/publication/PubMed/11408531" }, { "database": "PubMed", "id": "15389554", "url": "https://glygen.org/publication/PubMed/15389554" }, { "database": "PubMed", "id": "12439218", "url": "https://glygen.org/publication/PubMed/12439218" }, { "database": "PubMed", "id": "9655880", "url": "https://glygen.org/publication/PubMed/9655880" }, { "database": "PubMed", "id": "9260930", "url": "https://glygen.org/publication/PubMed/9260930" }, { "database": "PubMed", "id": "12719534", "url": "https://glygen.org/publication/PubMed/12719534" }, { "database": "PubMed", "id": "16581093", "url": "https://glygen.org/publication/PubMed/16581093" }, { "database": "PubMed", "id": "16263091", "url": "https://glygen.org/publication/PubMed/16263091" }, { "database": "PubMed", "id": "35469921", "url": "https://glygen.org/publication/PubMed/35469921" }, { "database": "UniProtKB", "id": "Q63089", "url": "https://www.uniprot.org/uniprot/Q63089#function" }, { "database": "PubMed", "id": "9187257", "url": "https://glygen.org/publication/PubMed/9187257" }, { "database": "PubMed", "id": "11907186", "url": "https://glygen.org/publication/PubMed/11907186" }, { "database": "PubMed", "id": "15817714", "url": "https://glygen.org/publication/PubMed/15817714" }, { "database": "PubMed", "id": "19536068", "url": "https://glygen.org/publication/PubMed/19536068" }, { "database": "PubMed", "id": "23680637", "url": "https://glygen.org/publication/PubMed/23680637" }, { "database": "PubMed", "id": "35307651", "url": "https://glygen.org/publication/PubMed/35307651" }, { "database": "PubMed", "id": "17460754", "url": "https://glygen.org/publication/PubMed/17460754" }, { "database": "PubMed", "id": "34040533", "url": "https://glygen.org/publication/PubMed/34040533" }, { "database": "PubMed", "id": "24961373", "url": "https://glygen.org/publication/PubMed/24961373" }, { "database": "PubMed", "id": "21128598", "url": "https://glygen.org/publication/PubMed/21128598" }, { "database": "PubMed", "id": "11388889", "url": "https://glygen.org/publication/PubMed/11388889" } ] }, { "annotation": "Mediates the uptake of 1-methyl-4-phenylpyridinium (MPP(+)).", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245#function" }, { "database": "PubMed", "id": "11388889", "url": "https://glygen.org/publication/PubMed/11388889" } ] }, { "annotation": "Not able to uptake 1-methyl-4-phenylpyridinium (MPP(+)).", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245#function" }, { "database": "PubMed", "id": "11388889", "url": "https://glygen.org/publication/PubMed/11388889" } ] }, { "annotation": "OCT1-target neural gene PFN2 promotes tumor growth in androgen receptor-negative prostate cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, { "database": "PubMed", "id": "35413990", "url": "https://glygen.org/publication/PubMed/35413990" } ] }, { "annotation": "Pharmacogenetic impact of SLC22A1 gene variant rs628031 (G/A) in newly diagnosed Indian type 2 diabetes patients undergoing metformin monotherapy.", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, { "database": "PubMed", "id": "36853844", "url": "https://glygen.org/publication/PubMed/36853844" } ] }, { "annotation": "Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" } ] }, { "annotation": "Structural basis of promiscuous substrate transport by Organic Cation Transporter 1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, { "database": "PubMed", "id": "37821493", "url": "https://glygen.org/publication/PubMed/37821493" } ] }, { "annotation": "The Role of SLC22A1 and Genomic Ancestry on Toxicity during Treatment in Children with Acute Lymphoblastic Leukemia of the Amazon Region. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003048" }, { "database": "PubMed", "id": "35456416", "url": "https://glygen.org/publication/PubMed/35456416" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs374468971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374468971" }, { "id": "rs374468971", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs374468971" }, { "id": "rs374468971", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374468971" }, { "id": "rs374468971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374468971#frequency_tab" }, { "id": "rs374468971", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374468971" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 200, "end_pos": 200, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYM->NYT).", "chr_id": "6", "chr_pos": "160132315", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "M200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15245", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15245" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "160136556", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E323", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": 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"DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast 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"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" 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"" }, { "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15245", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15245" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15245" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"https://www.rhea-db.org/rhea/73863", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "73867", "url": "https://www.rhea-db.org/rhea/73867", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "73875", "url": "https://www.rhea-db.org/rhea/73875", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "73879", "url": "https://www.rhea-db.org/rhea/73879", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "73883", "url": "https://www.rhea-db.org/rhea/73883", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "74663", "url": "https://www.rhea-db.org/rhea/74663", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "74787", "url": "https://www.rhea-db.org/rhea/74787", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "74791", "url": "https://www.rhea-db.org/rhea/74791", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F5GY86", "url": "https://www.uniprot.org/uniprot/F5GY86", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GY86-1", "url": "https://www.uniprot.org/uniprot/F5GY86-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5P3", "url": "https://www.uniprot.org/uniprot/F5H5P3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5P3-1", "url": "https://www.uniprot.org/uniprot/F5H5P3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15245-1", "url": "https://www.uniprot.org/uniprot/O15245-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15245-2", "url": "https://www.uniprot.org/uniprot/O15245-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15245-3", "url": "https://www.uniprot.org/uniprot/O15245-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15245-4", "url": "https://www.uniprot.org/uniprot/O15245-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYDTPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVLMAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAYALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKMLSLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSALVEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQMICLVNAELYPTFVRNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFAVLGLLAAGVTLLLPETKGVALPETMKDAENLGRKAKPKENTIYLKVQTSEPSGT", "length": 554, "header": "sp|O15245-1|S22A1_HUMAN Isoform 1 of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=2 CANONICAL=O15245-1" }, "isoforms": [ { "isoform_ac": "F5GY86-1", "url": "", "sequence": { "sequence": "MAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMY", "length": 48, "header": "tr|F5GY86-1|S22A1_HUMAN Computationally mapped isoform of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=1 CANONICAL=O15245-1" }, "locus": { "chromosome": "6", "start_pos": 160134006, "end_pos": 160132293, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540443.1", "url": "https://www.ensembl.org/id/ENST00000540443.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440105.1", "url": "https://www.ensembl.org/id/ENSP00000440105.1" } ] } }, { "isoform_ac": "F5H5P3-1", "url": "", "sequence": { "sequence": "MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYDTPGSSIVTEVWP", "length": 140, "header": "tr|F5H5P3-1|F5H5P3_HUMAN Computationally mapped isoform of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=1 CANONICAL=O15245-1" }, "locus": { "chromosome": "6", "start_pos": 160132240, "end_pos": 160121936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539263.5", "url": "https://www.ensembl.org/id/ENST00000539263.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443245.1", "url": "https://www.ensembl.org/id/ENSP00000443245.1" } ] } }, { "isoform_ac": "O15245-1", "url": "", "sequence": { "sequence": "MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYDTPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVLMAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAYALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKMLSLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSALVEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQMICLVNAELYPTFVRNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFAVLGLLAAGVTLLLPETKGVALPETMKDAENLGRKAKPKENTIYLKVQTSEPSGT", "length": 554, "header": "sp|O15245-1|S22A1_HUMAN Isoform 1 of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=2 CANONICAL=O15245-1" }, "locus": { "chromosome": "6", "start_pos": 160158579, "end_pos": 160121936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366963.9", "url": "https://www.ensembl.org/id/ENST00000366963.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000355930.4", "url": "https://www.ensembl.org/id/ENSP00000355930.4" } ] } }, { "isoform_ac": "O15245-2", "url": "", "sequence": { "sequence": "MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYDTPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVLMAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAYALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKMLSLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSALVEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQMICLVNAELYPTFVSGVGPACRGSDATSSRDQGGRFARDHEGRREPWEKSKAQRKHDLP", "length": 506, "header": "sp|O15245-2|S22A1_HUMAN Isoform 2 of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=2 CANONICAL=O15245-1" }, "locus": { "chromosome": "6", "start_pos": 160158548, "end_pos": 160121936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000324965.8", "url": "https://www.ensembl.org/id/ENST00000324965.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000318103.4", "url": "https://www.ensembl.org/id/ENSP00000318103.4" } ] } }, { "isoform_ac": "O15245-3", "url": "", "sequence": { "sequence": "MPTVDDILEQVGESGWFQKQAFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQRCGWSPAEELNYTVPGLGPAGEAFLGQCRRYEVDWNQSALSCVDPLASLATNRSHLPLGPCQDGWVYDTPGSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSLGVGYFADRFGRKLCLLGTVLVNAVSGVLMAFSPNYMSMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIMYQMAFTVGLVALTGLAYALPHWRWLQLAVSLPTFLFLLYYWCVPESPRWLLSQKRNTEAIKIMDHIAQKNGKLPPADLKMLSLEEDVTEKLSPSFADLFRTPRLRKRTFILMYLWFTDSVLYQGLILHMGATSGNLYLDFLYSALVEIPGAFIALITIDRVGRIYPMAMSNLLAGAACLVMIFISPDLHWLNIIIMCVGRMGITIAIQMICLVNAELYPTFVRKAKPKENTIYLKVQTSEPSGT", "length": 483, "header": "sp|O15245-3|S22A1_HUMAN Isoform 3 of Solute carrier family 22 member 1 OS=Homo sapiens OX=9606 GN=SLC22A1 PE=1 SV=2 CANONICAL=O15245-1" }, "locus": { "chromosome": "6", "start_pos": 160158579, "end_pos": 160121936, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457470.6", "url": "https://www.ensembl.org/id/ENST00000457470.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000409557.2", "url": "https://www.ensembl.org/id/ENSP00000409557.2" } ] } }, 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"subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "O15245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15245#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 333, "end_pos": 333, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "site_lbl": "Ser333" }, { "start_pos": 541, "end_pos": 541, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" }, { "database": "PubMed", "id": "24275569", "url": 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"authors": "Grundemann D, Schechinger B, Rappold GA, Schomig E", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10196521", "url": "https://glygen.org/publication/PubMed/10196521" } ] }, { "title": "Functional characterization of the Betaine/gamma-aminobutyric acid transporter BGT-1 expressed in Xenopus oocytes.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Matskevitch I, Wagner CA, Stegen C, Broer S, Noll B, Risler T, Kwon HM, Handler JS, Waldegger S, Busch AE, Lang F", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10358010", "url": "https://glygen.org/publication/PubMed/10358010" } ] }, { "title": "Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sloan JL, Mager S", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10446133", "url": "https://glygen.org/publication/PubMed/10446133" } ] }, { "title": "Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.", "journal": "The New England journal of medicine", "date": "2000", "authors": "Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10684912", "url": "https://glygen.org/publication/PubMed/10684912" } ] }, { "title": "Human dopamine transporter gene: coding region conservation among normal, Tourette's disorder, alcohol dependence and attention-deficit hyperactivity disorder populations.", "journal": "Molecular psychiatry", "date": "2000", "authors": "Vandenbergh DJ, Thompson MD, Cook EH, Bendahhou E, Nguyen T, Krasowski MD, Zarrabian D, Comings D, Sellers EM, Tyndale RF, George SR, O'Dowd BF, Uhl GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10889531", "url": "https://glygen.org/publication/PubMed/10889531" } ] }, { "title": "Structure, function, and regional distribution of the organic cation transporter OCT3 in the kidney.", "journal": "American journal of physiology. Renal physiology", "date": "2000", "authors": "Wu X, Huang W, Ganapathy ME, Wang H, Kekuda R, Conway SJ, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "10966924", "url": "https://glygen.org/publication/PubMed/10966924" } ] }, { "title": "Role of Cl- in electrogenic Na+-coupled cotransporters GAT1 and SGLT1.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Loo DD, Eskandari S, Boorer KJ, Sarkar HK, Wright EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "10973981", "url": "https://glygen.org/publication/PubMed/10973981" } ] }, { "title": "Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin-II.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2000", "authors": "Kryger G, Harel M, Giles K, Toker L, Velan B, Lazar A, Kronman C, Barak D, Ariel N, Shafferman A, Silman I, Sussman JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "11053835", "url": "https://glygen.org/publication/PubMed/11053835" } ] }, { "title": "The new cholinesterase inhibitors for Alzheimer's disease, Part 2: illustrating their mechanisms of action.", "journal": "The Journal of clinical psychiatry", "date": "2000", "authors": "Stahl SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-112311", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-112311" } ], "reference": [ { "type": "PubMed", "id": "11105732", "url": "https://glygen.org/publication/PubMed/11105732" } ] }, { "title": "Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1).", "journal": "Annals of human genetics", "date": "1999-11", "authors": "Hayer M, B\u00f6nisch H, Br\u00fcss M", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "11388889", "url": "https://glygen.org/publication/PubMed/11388889" } ] }, { "title": "Comparison of `type I` and `type II` organic cation transport by organic cation transporters and organic anion-transporting polypeptides.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2001-07", "authors": "van Montfoort J E, M\u00fcller M, Groothuis G M, Meijer D K, Koepsell H, Meier P J", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "11408531", "url": "https://glygen.org/publication/PubMed/11408531" } ] }, { "title": "Multiple pathways for fluoroquinolone secretion by human intestinal epithelial (Caco-2) cells.", "journal": "British journal of pharmacology", "date": "2002", "authors": "Lowes S, Simmons NL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9793528", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9793528" } ], "reference": [ { "type": "PubMed", "id": "11877335", "url": "https://glygen.org/publication/PubMed/11877335" } ] }, { "title": "Human organic anion transporters and human organic cation transporters mediate renal transport of prostaglandins.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2002-04", "authors": "Kimura Hiroaki, Takeda Michio, Narikawa Shinichi, Enomoto Atsushi, Ichida Kimiyoshi, Endou Hitoshi", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "11907186", "url": "https://glygen.org/publication/PubMed/11907186" } ] }, { "title": "Gene expression levels and immunolocalization of organic ion transporters in the human kidney.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2002", "authors": "Motohashi H, Sakurai Y, Saito H, Masuda S, Urakami Y, Goto M, Fukatsu A, Ogawa O, Inui KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9793528", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9793528" } ], "reference": [ { "type": "PubMed", "id": "11912245", "url": "https://glygen.org/publication/PubMed/11912245" } ] }, { "title": "Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Enomoto A, Wempe MF, Tsuchida H, Shin HJ, Cha SH, Anzai N, Goto A, Sakamoto A, Niwa T, Kanai Y, Anders MW, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12089149", "url": "https://glygen.org/publication/PubMed/12089149" } ] }, { "title": "Novel human cDNAs homologous to Drosophila Orct and mammalian carnitine transporters.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Eraly SA, Nigam SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12372408", "url": "https://glygen.org/publication/PubMed/12372408" } ] }, { "title": "Identification of OCT6 as a novel organic cation transporter preferentially expressed in hematopoietic cells and leukemias.", "journal": "Experimental hematology", "date": "2002", "authors": "Gong S, Lu X, Xu Y, Swiderski CF, Jordan CT, Moscow JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "12384147", "url": "https://glygen.org/publication/PubMed/12384147" } ] }, { "title": "Identification of genetic variations of the human organic cation transporter hOCT1 and their functional consequences.", "journal": "Pharmacogenetics", "date": "2002", "authors": "Kerb R, Brinkmann U, Chatskaia N, Gorbunov D, Gorboulev V, Mornhinweg E, Keil A, Eichelbaum M, Koepsell H", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "12439218", "url": "https://glygen.org/publication/PubMed/12439218" } ] }, { "title": "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-181430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-181430" } ], "reference": [ { "type": "PubMed", "id": "12519779", "url": "https://glygen.org/publication/PubMed/12519779" } ] }, { "title": "Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Shu Y, Leabman MK, Feng B, Mangravite LM, Huang CC, Stryke D, Kawamoto M, Johns SJ, DeYoung J, Carlson E, Ferrin TE, Herskowitz I, Giacomini KM", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "12719534", "url": "https://glygen.org/publication/PubMed/12719534" } ] }, { "title": "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.", "journal": "Nature genetics", "date": "2003", "authors": "Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "14608356", "url": "https://glygen.org/publication/PubMed/14608356" } ] }, { "title": "Novel single nucleotide polymorphisms of organic cation transporter 1 (SLC22A1) affecting transport functions.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Sakata T, Anzai N, Shin HJ, Noshiro R, Hirata T, Yokoyama H, Kanai Y, Endou H", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "14697261", "url": "https://glygen.org/publication/PubMed/14697261" } ] }, { "title": "Functional variants of OCTN cation transporter genes are associated with Crohn disease.", "journal": "Nature genetics", "date": "2004", "authors": "Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15107849", "url": "https://glygen.org/publication/PubMed/15107849" } ] }, { "title": "Hypertension and impaired glycine handling in mice lacking the orphan transporter XT2.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Quan H, Athirakul K, Wetsel WC, Torres GE, Stevens R, Chen YT, Coffman TM, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15121838", "url": "https://glygen.org/publication/PubMed/15121838" } ] }, { "title": "SLC22A4 and RUNX1: identification of RA susceptible genes.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2004", "authors": "Yamada R, Tokuhiro S, Chang X, Yamamoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-549127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-549127" } ], "reference": [ { "type": "PubMed", "id": "15184985", "url": "https://glygen.org/publication/PubMed/15184985" } ] }, { "title": "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.", "journal": "Nature genetics", "date": "2004", "authors": "Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15286787", "url": "https://glygen.org/publication/PubMed/15286787" } ] }, { "title": "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.", "journal": "Nature genetics", "date": "2004", "authors": "Seow HF, Broer S, Broer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15286788", "url": "https://glygen.org/publication/PubMed/15286788" } ] }, { "title": "Regulation of the human organic cation transporter hOCT1.", "journal": "Journal of cellular physiology", "date": "2004-12", "authors": "Ciarimboli Giuliano, Struwe Katja, Arndt Petra, Gorboulev Valentin, Koepsell Hermann, Schlatter Eberhard, Hirsch Jochen R", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "15389554", "url": "https://glygen.org/publication/PubMed/15389554" } ] }, { "title": "Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1).", "journal": "Drug metabolism and pharmacokinetics", "date": "2004", "authors": "Itoda M, Saito Y, Maekawa K, Hichiya H, Komamura K, Kamakura S, Kitakaze M, Tomoike H, Ueno K, Ozawa S, Sawada J", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "reference": [ { "type": "PubMed", "id": "15499200", "url": "https://glygen.org/publication/PubMed/15499200" } ] }, { "title": "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Takanaga H, Mackenzie B, Suzuki Y, Hediger MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-442660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442660" } ], "reference": [ { "type": "PubMed", "id": "15632147", "url": "https://glygen.org/publication/PubMed/15632147" } ] }, { "title": "Expression, localization, and functional characteristics of breast cancer resistance protein in Caco-2 cells.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2005", "authors": "Xia CQ, Liu N, Yang D, Miwa G, Gan LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9793528", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9793528" } 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transporter activity", "id": "GO:0015234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015234", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "putrescine transmembrane transporter activity", "id": "GO:0015489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015489", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "organic cation transmembrane transporter activity", "id": "GO:0015101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015101", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "(R)-carnitine transmembrane transporter activity", "id": "GO:1901235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901235", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "pyrimidine nucleoside transmembrane transporter activity", "id": "GO:0015214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015214", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "spermidine transmembrane transporter activity", "id": "GO:0015606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015606", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 25, "go_terms": [ { "name": "quaternary ammonium group transport", "id": "GO:0015697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015697", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "monoamine transport", "id": "GO:0015844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015844", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "acetylcholine transport", "id": "GO:0015870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015870", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "metanephric proximal tubule development", "id": "GO:0072237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072237", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "organic cation transport", "id": "GO:0015695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015695", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "dopamine transport", "id": "GO:0015872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015872", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "toxin transport", "id": "GO:1901998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901998", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "establishment or maintenance of transmembrane electrochemical gradient", "id": "GO:0010248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010248", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "norepinephrine transport", "id": "GO:0015874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015874", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "dopamine uptake", "id": "GO:0090494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090494", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "serotonin transport", "id": "GO:0006837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006837", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "serotonin uptake", "id": "GO:0051610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051610", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "thiamine transport", "id": "GO:0015888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015888", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "epinephrine transport", "id": "GO:0048241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048241", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "putrescine transport", "id": "GO:0015847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015847", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "thiamine transmembrane transport", "id": "GO:0071934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071934", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "xenobiotic transport across blood-brain barrier", "id": "GO:1990962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990962", "evidence": [ { "database": "UniProtKB", "id": "O15245", "url": "https://www.uniprot.org/uniprot/O15245" } ], "pmid": "" }, { "name": "xenobiotic transport", 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