{ "uniprot_canonical_ac": "O00180-1", "uniprot_ac": "O00180", "uniprot_id": "KCNK1_HUMAN", "mass": { "chemical_mass": 38143.0, "monoisotopic_mass": 38143.0 }, "refseq": { "ac": "NP_002236", "name": "potassium channel subfamily K member 1", "summary": "This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" }, "gene_names": [ { "name": "KCNK1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00180", "id": "O00180" }, { "name": "DPK; HOHO; K2P1; K2p1.1; KCNO1; TWIK-1; TWIK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236", "id": "NP_002236" }, { "name": "HOHO1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00180", "id": "O00180" }, { "name": "KCNK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236", "id": "NP_002236" }, { "name": "KCNO1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00180", "id": "O00180" }, { "name": "TWIK1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00180", "id": "O00180" } ], "protein_names": [ { "name": "Potassium channel subfamily K member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00180" }, { "name": "Inward rectifying potassium channel protein TWIK-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00180" }, { "name": "Potassium channel K2P1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00180" }, { "name": "Potassium channel KCNO1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00180" }, { "name": "potassium channel subfamily K member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236", "id": "NP_002236" }, { "name": "potassium inwardly-rectifying channel, subfamily K, member 1; potassium channel, two pore domain subfamily K, member 1; potassium channel KCNO1; inward rectifying potassium channel protein TWIK-1; tandem of P domains in a weak inward rectifying K+ channel 1; potassium channel K2P1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236", "id": "NP_002236" } ], "function": [ { "annotation": "Dynamics of the TWIK-1 Channel", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" }, { "database": "PubMed", "id": "27558721", "url": "https://glygen.org/publication/PubMed/27558721" } ] }, { "annotation": "Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" }, { "database": "PubMed", "id": "36566598", "url": "https://glygen.org/publication/PubMed/36566598" } ] }, { "annotation": "Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed:21653227, PubMed:22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed:8605869, PubMed:8978667, PubMed:15820677, PubMed:21653227, PubMed:22431633, PubMed:23169818, PubMed:25001086). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed:23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed:15820677, PubMed:20498050, PubMed:23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed:19959478).", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180#function" }, { "database": "PubMed", "id": "25001086", "url": "https://glygen.org/publication/PubMed/25001086" }, { "database": "PubMed", "id": "20498050", "url": "https://glygen.org/publication/PubMed/20498050" }, { "database": "UniProtKB", "id": "O08581", "url": "https://www.uniprot.org/uniprot/O08581#function" }, { "database": "PubMed", "id": "22282804", "url": "https://glygen.org/publication/PubMed/22282804" }, { "database": "PubMed", "id": "23169818", "url": "https://glygen.org/publication/PubMed/23169818" }, { "database": "PubMed", "id": "17693262", "url": "https://glygen.org/publication/PubMed/17693262" }, { "database": "PubMed", "id": "15820677", "url": "https://glygen.org/publication/PubMed/15820677" }, { "database": "UniProtKB", "id": "Q9Z2T2", "url": "https://www.uniprot.org/uniprot/Q9Z2T2#function" }, { "database": "PubMed", "id": "22431633", "url": "https://glygen.org/publication/PubMed/22431633" }, { "database": "PubMed", "id": "21653227", "url": "https://glygen.org/publication/PubMed/21653227" }, { "database": "PubMed", "id": "8978667", "url": "https://glygen.org/publication/PubMed/8978667" }, { "database": "PubMed", "id": "8605869", "url": "https://glygen.org/publication/PubMed/8605869" }, { "database": "PubMed", "id": "19959478", "url": "https://glygen.org/publication/PubMed/19959478" } ] }, { "annotation": "Our data indicate that TWIK-1 has a highly conserved role in cardiac function and is required for normal heart rate and atrial morphology. Despite the functional importance of TWIK-1 in the atrium, genetic variation in KCNK1 is not a common primary cause of human AF.", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" }, { "database": "PubMed", "id": "27103460", "url": "https://glygen.org/publication/PubMed/27103460" } ] }, { "annotation": "Selectivity filter instability dominates the low intrinsic activity of the TWIK-1 K2P K(+) channel.", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" }, { "database": "PubMed", "id": "31806709", "url": "https://glygen.org/publication/PubMed/31806709" } ] }, { "annotation": "This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00180", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00180" }, { "id": "rs752158962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752158962" }, { "id": "rs752158962", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752158962" }, { "id": "rs752158962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752158962" }, { "id": "24121792", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24121792" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 17, "end_pos": 17, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HRS->NRS).", "chr_id": "1", "chr_pos": "233614220", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H17", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "O00180", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00180" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 97, "end_pos": 97, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->NAP).", "chr_id": "1", "chr_pos": "233614460", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S97", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 108, "end_pos": 109, "sequence_org": "LF", "sequence_mut": "FY", "comment": "Impairs selectivity for K(+) ions and increases permeability to Na(+) ions, both at pH 7.4 and at pH 6.", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" }, { "database": "PubMed", "id": "22431633", "url": "https://glygen.org/publication/PubMed/22431633" } ] }, { "start_pos": 118, "end_pos": 118, "sequence_org": "T", "sequence_mut": "I", "comment": "Abolishes change in ion selectivity in the presence of subphysiological K(+) levels.", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" }, { "database": "PubMed", "id": "21653227", "url": "https://glygen.org/publication/PubMed/21653227" } ] }, { "start_pos": 122, "end_pos": 122, 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"description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00180", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00180" } ], "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": "O00180", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00180" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"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 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00180", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00180" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00180", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00180" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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channel subfamily K member 1 OS=Homo sapiens OX=9606 GN=KCNK1 PE=1 SV=1 CANONICAL=O00180-1" }, "locus": { "chromosome": "1", "start_pos": 233671527, "end_pos": 233614172, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366621.8", "url": "https://www.ensembl.org/id/ENST00000366621.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000355580.3", "url": "https://www.ensembl.org/id/ENSP00000355580.3" } ] } }, { "isoform_ac": "Q5T5E6-1", "url": "", "sequence": { "sequence": "VLRVLSPDLVRRLLNLAVRAFQVPKGESLNFPESTPGYGHTVPLSDGGKAFCIIYSVIGIPFTLLFLTAVVQRITVHVTRRPVLYFHIRWGFSKQVVAIVHAVLLGFVTVSCFFFIPAAVFSVLEDDWNFLESFYFCFISLSTIGLGDYVPGEGYNQKFRELYKIGITCYLLLGLIAMLVVLETFCELHELKKFRKMFYVKKDKDEDQVHIIEHDQLSFSSITDQAAGMKEDQKQNEPFVAT", "length": 242, "header": "tr|Q5T5E6-1|KCNK1_HUMAN Computationally mapped isoform of Potassium channel subfamily K member 1 OS=Homo sapiens OX=9606 GN=KCNK1 PE=1 SV=1 CANONICAL=O00180-1" }, "locus": { "chromosome": "1", "start_pos": 233671491, "end_pos": 233649941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446915.1", "url": "https://www.ensembl.org/id/ENST00000446915.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000409626.1", "url": "https://www.ensembl.org/id/ENSP00000409626.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 95, "start_aa": "Asn", "end_pos": 95, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn95", "evidence": [ { "id": "O00180", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00180#ptm_processing" }, { "id": "8978667", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/8978667" } ] } ], "phosphorylation": [ { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "site_lbl": "Ser326" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Distribution analysis of human two pore domain potassium channels in tissues of the central nervous system and periphery.", "journal": "Brain Res. Mol. Brain Res.", "date": "2001", "authors": "Medhurst AD, Rennie G, Chapman CG, Meadows H, Duckworth MD, Kelsell RE, Gloger II, Pangalos MN", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "11165377", "url": "https://glygen.org/publication/PubMed/11165377" } ] }, { "title": "Mechanism of the voltage sensitivity of IRK1 inward-rectifier K+ channel block by the polyamine spermine.", "journal": "The Journal of general physiology", "date": "2005", "authors": "Shin HG, Lu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "15795311", "url": "https://glygen.org/publication/PubMed/15795311" } ] }, { "title": "Sumoylation silences the plasma membrane leak K+ channel K2P1.", "journal": "Cell", "date": "2005", "authors": "Rajan S, Plant LD, Rabin ML, Butler MH, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "15820677", "url": "https://glygen.org/publication/PubMed/15820677" } ] }, { "title": "International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels.", "journal": "Pharmacological reviews", "date": "2005", "authors": "Goldstein SA, Bayliss DA, Kim D, Lesage F, Plant LD, Rajan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "16382106", "url": "https://glygen.org/publication/PubMed/16382106" } ] }, { "title": "Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart.", "journal": "J. Physiol. (Lond.)", "date": "2007", "authors": "Gaborit Nathalie, Le Bouter Sabrina, Szuts Viktoria, Varro Andras, Escande Denis, Nattel Stanley, Demolombe Sophie", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "17478540", "url": "https://glygen.org/publication/PubMed/17478540" } ] }, { "title": "Biophysical, pharmacological, and functional characteristics of cloned and native mammalian two-pore domain K+ channels.", "journal": "Cell biochemistry and biophysics", "date": "2007", "authors": "Lotshaw DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "17652773", "url": "https://glygen.org/publication/PubMed/17652773" } ] }, { "title": "Does sumoylation control K2P1/TWIK1 background K+ channels?", "journal": "Cell", "date": "2007", "authors": "Feliciangeli S, Bendahhou S, Sandoz G, Gounon P, Reichold M, Warth R, Lazdunski M, Barhanin J, Lesage F", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "17693262", "url": "https://glygen.org/publication/PubMed/17693262" } ] }, { "title": "Potassium channel silencing by constitutive endocytosis and intracellular sequestration.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Feliciangeli S, Tardy MP, Sandoz G, Chatelain FC, Warth R, Barhanin J, Bendahhou S, Lesage F", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" }, { "database": "Reactome", "id": "R-HSA-1299308", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299308" } ], "reference": [ { "type": "PubMed", "id": "19959478", "url": "https://glygen.org/publication/PubMed/19959478" } ] }, { "title": "Molecular background of leak K+ currents: two-pore domain potassium channels.", "journal": "Physiological reviews", "date": "2010", "authors": "Enyedi P, Czirjak G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "20393194", "url": "https://glygen.org/publication/PubMed/20393194" } ] }, { "title": "One SUMO is sufficient to silence the dimeric potassium channel K2P1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Plant LD, Dementieva IS, Kollewe A, Olikara S, Marks JD, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "20498050", "url": "https://glygen.org/publication/PubMed/20498050" } ] }, { "title": "TWIK-1 two-pore domain potassium channels change ion selectivity and conduct inward leak sodium currents in hypokalemia.", "journal": "Science signaling", "date": "2011", "authors": "Ma L, Zhang X, Chen H", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "21653227", "url": "https://glygen.org/publication/PubMed/21653227" } ] }, { "title": "A role for two-pore K? channels in modulating Na? absorption and Cl? secretion in normal human bronchial epithelial cells.", "journal": "Am. J. Physiol.", "date": "2012", "authors": "Zhao KQ, Xiong G, Wilber M, Cohen NA, Kreindler JL", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "21964404", "url": "https://glygen.org/publication/PubMed/21964404" } ] }, { "title": "Crystal structure of the human two-pore domain potassium channel K2P1.", "journal": "Science (New York, N.Y.)", "date": "2012", "authors": "Miller AN, Long SB", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "22282804", "url": "https://glygen.org/publication/PubMed/22282804" } ] }, { "title": "TWIK1, a unique background channel with variable ion selectivity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Chatelain FC, Bichet D, Douguet D, Feliciangeli S, Bendahhou S, Reichold M, Warth R, Barhanin J, Lesage F", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "22431633", "url": "https://glygen.org/publication/PubMed/22431633" } ] }, { "title": "SUMOylation silences heterodimeric TASK potassium channels containing K2P1 subunits in cerebellar granule neurons.", "journal": "Science signaling", "date": "2012", "authors": "Plant LD, Zuniga L, Araki D, Marks JD, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "23169818", "url": "https://glygen.org/publication/PubMed/23169818" } ] }, { "title": "Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation.", "journal": "Nature genetics", "date": "2013", "authors": "Guo G, Sun X, Chen C, Wu S, Huang P, Li Z, Dean M, Huang Y, Jia W, Zhou Q, Tang A, Yang Z, Li X, Song P, Zhao X, Ye R, Zhang S, Lin Z, Qi M, Wan S, Xie L, Fan F, Nickerson ML, Zou X, Hu X, Xing L, Lv Z, Mei H, Gao S, Liang C, Gao Z, Lu J, Yu Y, Liu C, Li L, Fang X, Jiang Z, Yang J, Li C, Zhao X, Chen J, Zhang F, Lai Y, Lin Z, Zhou F, Chen H, Chan HC, Tsang S, Theodorescu D, Li Y, Zhang X, Wang J, Yang H, Gui Y, Wang J, Cai Z", "evidence": [ { "database": "dbSNP", "id": "rs752158962", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752158962" } ], "reference": [ { "type": "PubMed", "id": "24121792", "url": "https://glygen.org/publication/PubMed/24121792" } ] }, { "title": "A hydrophobic barrier deep within the inner pore of the TWIK-1 K2P potassium channel.", "journal": "Nature communications", "date": "2014", "authors": "Aryal P, Abd-Wahab F, Bucci G, Sansom MS, Tucker SJ", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "25001086", "url": "https://glygen.org/publication/PubMed/25001086" } ] }, { "title": "Silent but not dumb: how cellular trafficking and pore gating modulate expression of TWIK1 and THIK2.", "journal": "Pflugers Arch.", "date": "2015", "authors": "Bichet Delphine, Blin Sandy, Feliciangeli Sylvain, Chatelain Franck C, Bobak Nicole, Lesage Florian", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "25339226", "url": "https://glygen.org/publication/PubMed/25339226" } ] }, { "title": "The family of K2P channels: salient structural and functional properties.", "journal": "J. Physiol. (Lond.)", "date": "2015", "authors": "Feliciangeli Sylvain, Chatelain Frank C, Bichet Delphine, Lesage Florian", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "25530075", "url": "https://glygen.org/publication/PubMed/25530075" } ] }, { "title": "The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size.", "journal": "Journal of molecular and cellular cardiology", "date": "2016", "authors": "Christensen AH, Chatelain FC, Huttner IG, Olesen MS, Soka M, Feliciangeli S, Horvat C, Santiago CF, Vandenberg JI, Schmitt N, Olesen SP, Lesage F, Fatkin D", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" } ], "reference": [ { "type": "PubMed", "id": "27103460", "url": "https://glygen.org/publication/PubMed/27103460" } ] }, { "title": "Exploring the Dynamics of the TWIK-1 Channel.", "journal": "Biophysical journal", "date": "2016", "authors": "Oakes V, Furini S, Pryde D, Domene C", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" } ], "reference": [ { "type": "PubMed", "id": "27558721", "url": "https://glygen.org/publication/PubMed/27558721" } ] }, { "title": "Selectivity filter instability dominates the low intrinsic activity of the TWIK-1 K2P K(+) channel.", "journal": "The Journal of biological chemistry", "date": "2020", "authors": "Nematian-Ardestani E, Abd-Wahab F, Chatelain FC, Sun H, Schewe M, Baukrowitz T, Tucker SJ", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" } ], "reference": [ { "type": "PubMed", "id": "31806709", "url": "https://glygen.org/publication/PubMed/31806709" } ] }, { "title": "Identification of KCNK1 as a potential prognostic biomarker and therapeutic target of breast cancer.", "journal": "Pathology, research and practice", "date": "2022-12-20", "authors": "Sun Xinyuan, Li Yizhi, Lan Hua, Jiang Ting, Wan Xiaoya, Cheng Yan", "evidence": [ { "database": "RefSeq", "id": "NP_002236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002236" } ], "reference": [ { "type": "PubMed", "id": "36566598", "url": "https://glygen.org/publication/PubMed/36566598" } ] }, { "title": "TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure.", "journal": "The EMBO journal", "date": "1996", "authors": "Lesage F, Guillemare E, Fink M, Duprat F, Lazdunski M, Romey G, Barhanin J", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "8605869", "url": "https://glygen.org/publication/PubMed/8605869" } ] }, { "title": "Dimerization of TWIK-1 K+ channel subunits via a disulfide bridge.", "journal": "The EMBO journal", "date": "1996", "authors": "Lesage F, Reyes R, Fink M, Duprat F, Guillemare E, Lazdunski M", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180#ptm_processing" }, { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "8978667", "url": "https://glygen.org/publication/PubMed/8978667" } ] }, { "title": "Cloning and localization of a double-pore K channel, KCNK1: exclusive expression in distal nephron segments.", "journal": "Am. J. Physiol.", "date": "1997", "authors": "Orias M, Vel\u00e1zquez H, Tung F, Lee G, Desir G V", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "9362344", "url": "https://glygen.org/publication/PubMed/9362344" } ] }, { "title": "Sequence and function of the two P domain potassium channels: implications of an emerging superfamily.", "journal": "J. Mol. Med.", "date": "1998", "authors": "Goldstein S A, Wang K W, Ilan N, Pausch M H", "evidence": [ { "database": "UniProtKB", "id": "O00180", "url": "https://www.uniprot.org/uniprot/O00180" } ], "reference": [ { "type": "PubMed", "id": "9462864", "url": "https://glygen.org/publication/PubMed/9462864" } ] } ], "pathway": [ { "id": "hsa:3775", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3775", "resource": "KEGG Pathway" }, { "id": "R-HSA-1299308", "name": "Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299308", "resource": "Reactome", "description": "Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)" }, { "id": "R-HSA-5576886", "name": "Phase 4 - resting membrane potential", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "resource": "Reactome", "description": "Phase 4 - resting membrane potential" } ], "orthologs": [ { 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