{ "uniprot_canonical_ac": "P05023-1", "uniprot_ac": "P05023", "uniprot_id": "AT1A1_HUMAN", "mass": { "chemical_mass": 112896.0, "monoisotopic_mass": 112896.0 }, "refseq": { "ac": "NP_000692", "name": "sodium/potassium-transporting ATPase subunit alpha-1 isoform a", "summary": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, "gene_names": [ { "name": "ATP1A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05023", "id": "P05023" }, { "name": "ATP1A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692", "id": "NP_000692" }, { "name": "CMT2DD; HOMGSMR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692", "id": "NP_000692" } ], "protein_names": [ { "name": "Sodium/potassium-transporting ATPase subunit alpha-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05023" }, { "name": "7.2.2.13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05023" }, { "name": "Na(+)/K(+) ATPase alpha-1 subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05023" }, { "name": "Na, K-ATPase, alpha-A catalytic polypeptide; Na+/K+ ATPase 1; sodium-potassium-ATPase, alpha 1 polypeptide; sodium/potassium-transporting ATPase subunit alpha-1; Na,K-ATPase alpha-1 subunit; Na,K-ATPase catalytic subunit alpha-A protein; sodium pump subunit alpha-1; Na(+)/K(+) ATPase alpha-1 subunit; sodium-potassium ATPase catalytic subunit alpha-1; ATPase, Na+/K+ transporting, alpha 1 polypeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692", "id": "NP_000692" }, { "name": "Sodium pump subunit alpha-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05023" }, { "name": "sodium/potassium-transporting ATPase subunit alpha-1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692", "id": "NP_000692" } ], "function": [ { "annotation": "ATP1A1-linked diseases require a malfunctioning protein product from one allele.", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, { "database": "PubMed", "id": "37659504", "url": "https://glygen.org/publication/PubMed/37659504" } ] }, { "annotation": "ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, { "database": "PubMed", "id": "37904054", "url": "https://glygen.org/publication/PubMed/37904054" } ] }, { "annotation": "Functional Analysis and Clinical Importance of ATP1A1 in Colon Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, { "database": "PubMed", "id": "37407874", "url": "https://glygen.org/publication/PubMed/37407874" } ] }, { "annotation": "Normalization of the ATP1A1 Signalosome Rescinds Epigenetic Modifications and Induces Cell Autophagy in Hepatocellular Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, { "database": "PubMed", "id": "37830582", "url": "https://glygen.org/publication/PubMed/37830582" } ] }, { "annotation": "Silencing of ATP1A1 attenuates cell membrane disruption by nanosecond electric pulses.", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" }, { "database": "PubMed", "id": "37566922", "url": "https://glygen.org/publication/PubMed/37566922" } ] }, { "annotation": "The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ] }, { "annotation": "This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023#function" }, { "database": "PubMed", "id": "29499166", "url": "https://glygen.org/publication/PubMed/29499166" }, { "database": "PubMed", "id": "30388404", "url": "https://glygen.org/publication/PubMed/30388404" } ] } ], "disease": [ { "disease_id": "DOID:0111558", "recommended_name": { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "Charcot-Marie-Tooth disease type 2DD", "description": "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1." }, "synonyms": [ { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "ATP1A1-related CMT2", "description": "" }, { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "CMT2DD", "description": "" }, { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "Charcot-Marie-Tooth disease, axonal, type 2DD", "description": "" }, { "id": "DOID:0111558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111558", "name": "Charcot-Marie-Tooth neuropathy, type 2DD", "description": "" }, { "id": "MONDO:0054833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054833", "name": "charcot-marie-tooth disease, axonal, type 2DD", "description": "" }, { "id": "MONDO:0054833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054833", "name": "CMT2DD", "description": "" }, { "id": "MONDO:0054833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054833", "name": "Charcot-Marie-Tooth neuropathy, type 2Dd", "description": "" }, { "id": "MONDO:0054833", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054833", "name": "Charcot-Marie-tooth disease, axonal, type 2DD", "description": "" }, { "id": "MIM:618036", "resource": "MIM", "url": "https://www.omim.org/entry/618036", "name": "Charcot-Marie-Tooth disease, axonal, 2DD", "description": "Charcot-Marie-Tooth disease, axonal, 2DD" } ], "evidence": [ { "id": "618036", "database": "MIM", "url": "https://www.omim.org/entry/618036" } ] }, { "disease_id": "MONDO:0020788", "recommended_name": { "id": "MONDO:0020788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020788", "name": "hypomagnesemia, seizures, and intellectual disability 2", "description": "" }, "synonyms": [ { "id": "MONDO:0020788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020788", "name": "HOMGSMR2", "description": "" }, { "id": "MONDO:0020788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020788", "name": "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2", "description": "" }, { "id": "MIM:618314", "resource": "MIM", "url": "https://www.omim.org/entry/618314", "name": "Hypomagnesemia, seizures, and impaired intellectual development 2", "description": "Hypomagnesemia, seizures, and impaired intellectual development 2" } ], "evidence": [ { "id": "618314", "database": "MIM", "url": "https://www.omim.org/entry/618314" } ] } ], "snv": [ { "evidence": [ { "id": "P05023", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05023" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 230, "end_pos": 230, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "1", "chr_pos": "116388953", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D230", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P05023", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05023" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 235, "end_pos": 235, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NEN->NET).", "chr_id": "1", "chr_pos": "116388969", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N235", "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" ] }, { "evidence": [ { "id": "P05023", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05023" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 431, "end_pos": 431, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "1", "chr_pos": "116390850", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A431", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P05023", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05023" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 65, "end_pos": 65, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "1", "chr_pos": "116387298", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S65", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "95.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "disease": [ { "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": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05023" } ], "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "common_name": "Human" } ], "gene": [ { "name": "ATP1A1", "url": "https://www.uniprot.org/uniprot/P05023", "locus": { "chromosome": "1", "start_pos": 116410261, "end_pos": 116372668, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000163399", "url": "https://www.ensembl.org/id/ENSG00000163399" } ] } } ], "crossref": [ { "id": "ENSG00000163399", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163399", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P05023", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05023", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "7.2.2.3", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=7.2.2.3&UniProtAcc=P05023", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd02608", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02608", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1807", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1807", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ATP1A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "476", "url": "https://www.ncbi.nlm.nih.gov/gene/476", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "799", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=799", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P05023", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05023*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001757", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001757", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004014", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004014", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006068", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006068", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008250", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008250", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018303", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018303", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023214", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023214", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023298", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023298", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023299", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023299", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036412", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036412", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044492", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044492", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:476", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:476", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "182310", "url": "http://www.omim.org/entry/182310", "database": "MIM", "categories": [ "Other" ] }, { "id": "618036", "url": "http://www.omim.org/entry/618036", "database": "MIM", "categories": [ "Other" ] }, { "id": "618314", "url": "http://www.omim.org/entry/618314", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P05023", "url": "https://www.nextprot.org/entry/NX_P05023", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P05023", "url": "https://oglcnac.org/atlas/detail/P05023", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CYIAYSV", "url": "https://omabrowser.org/oma/group/CYIAYSV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "203629at2759", "url": "http://www.orthodb.org/?query=203629at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43294", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43294", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43294:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43294:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "7E1Z", "url": "https://www.rcsb.org/structure/7E1Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E20", "url": "https://www.rcsb.org/structure/7E20", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7E21", "url": "https://www.rcsb.org/structure/7E21", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00122", "url": "http://pfam.xfam.org/family/PF00122", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00689", "url": "http://pfam.xfam.org/family/PF00689", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00690", "url": "http://pfam.xfam.org/family/PF00690", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13246", "url": "http://pfam.xfam.org/family/PF13246", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05023", "url": "https://pharos.nih.gov/targets/P05023", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05023", "url": "http://purl.obolibrary.org/obo/PR_P05023", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "18353", "url": "https://www.rhea-db.org/rhea/18353", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05023-1", "url": "https://www.uniprot.org/uniprot/P05023-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05023-2", "url": "https://www.uniprot.org/uniprot/P05023-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05023-3", "url": "https://www.uniprot.org/uniprot/P05023-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05023-4", "url": "https://www.uniprot.org/uniprot/P05023-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC01", "url": "https://www.uniprot.org/uniprot/Q5TC01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC01-1", "url": "https://www.uniprot.org/uniprot/Q5TC01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC02", "url": "https://www.uniprot.org/uniprot/Q5TC02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC02-1", "url": "https://www.uniprot.org/uniprot/Q5TC02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC05", "url": "https://www.uniprot.org/uniprot/Q5TC05", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC05-1", "url": "https://www.uniprot.org/uniprot/Q5TC05-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 1023, "header": "sp|P05023-1|AT1A1_HUMAN Isoform 1 of Sodium/potassium-transporting ATPase subunit alpha-1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "isoforms": [ { "isoform_ac": "P05023-1", "url": "", "sequence": { "sequence": "MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 1023, "header": "sp|P05023-1|AT1A1_HUMAN Isoform 1 of Sodium/potassium-transporting ATPase subunit alpha-1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116404441, "end_pos": 116373512, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000295598.10", "url": "https://www.ensembl.org/id/ENST00000295598.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000295598.5", "url": "https://www.ensembl.org/id/ENSP00000295598.5" } ] } }, { "isoform_ac": "P05023-2", "url": "", "sequence": { "sequence": "MGKGVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGSGPMSRGKSWSSPATQPSSSVSWWCSGPTWSSVRPGGIRSSSRG", "length": 681, "header": "sp|P05023-2|AT1A1_HUMAN Isoform 2 of Sodium/potassium-transporting ATPase subunit alpha-1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": {} }, { "isoform_ac": "P05023-3", "url": "", "sequence": { "sequence": "MDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 992, "header": "sp|P05023-3|AT1A1_HUMAN Isoform 3 of Sodium/potassium-transporting ATPase subunit alpha-1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116404441, "end_pos": 116384095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369496.8", "url": "https://www.ensembl.org/id/ENST00000369496.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000358508.4", "url": "https://www.ensembl.org/id/ENSP00000358508.4" } ] } }, { "isoform_ac": "P05023-4", "url": "", "sequence": { "sequence": "MAFKVGRDKYEPAAVSEQGDKKGKKGKKDRDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEEVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAAEIEHFIHIITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWLALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIELCCGSVKEMRERYAKIVEIPFNSTNKYQLSIHKNPNTSEPQHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLFLPDEQFPEGFQFDTDDVNFPIDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVVHGSDLKDMTSEQLDDILKYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 1023, "header": "sp|P05023-4|AT1A1_HUMAN Isoform 4 of Sodium/potassium-transporting ATPase subunit alpha-1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116404441, "end_pos": 116374230, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537345.5", "url": "https://www.ensembl.org/id/ENST00000537345.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445306.1", "url": "https://www.ensembl.org/id/ENSP00000445306.1" } ] } }, { "isoform_ac": "Q5TC01-1", "url": "", "sequence": { "sequence": "MDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNG", "length": 144, "header": "tr|Q5TC01-1|Q5TC01_HUMAN Computationally mapped isoform of ATPase Na+/K+ transporting subunit alpha 1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116388661, "end_pos": 116384095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369494.5", "url": "https://www.ensembl.org/id/ENST00000369494.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000358506.1", "url": "https://www.ensembl.org/id/ENSP00000358506.1" } ] } }, { "isoform_ac": "Q5TC02-1", "url": "", "sequence": { "sequence": "MDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTSARAAEILARDGPNALTPPPTTPEWIKFCRQLFGGFSMLLWIGAILCFLAYSIQAATEEEPQNDNLYLGVVLS", "length": 106, "header": "tr|Q5TC02-1|Q5TC02_HUMAN Computationally mapped isoform of ATPase Na+/K+ transporting subunit alpha 1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116388154, "end_pos": 116384095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418797.5", "url": "https://www.ensembl.org/id/ENST00000418797.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400124.1", "url": "https://www.ensembl.org/id/ENSP00000400124.1" } ] } }, { "isoform_ac": "Q5TC05-1", "url": "", "sequence": { "sequence": "RQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPIHLLGLRVDWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGVALRMYPLKTLTQYS", "length": 157, "header": "tr|Q5TC05-1|Q5TC05_HUMAN Computationally mapped isoform of ATPase Na+/K+ transporting subunit alpha 1 OS=Homo sapiens OX=9606 GN=ATP1A1 PE=1 SV=1 CANONICAL=P05023-1" }, "locus": { "chromosome": "1", "start_pos": 116410153, "end_pos": 116399471, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440951.1", "url": "https://www.ensembl.org/id/ENST00000440951.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396236.1", "url": "https://www.ensembl.org/id/ENSP00000396236.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 65, "start_aa": "Ser", "end_pos": 65, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser65", "evidence": [ { "id": "P05023", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "P05023", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05023" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "10473631", "url": "https://glygen.org/publication/PubMed/10473631" }, { "database": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ], "site_lbl": "Tyr10" }, { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "14976217", "url": "https://glygen.org/publication/PubMed/14976217" } ], "site_lbl": "Ser16" }, { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "Q05513-1", "kinase_gene_name": "PRKCZ", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "12671055", "url": "https://glygen.org/publication/PubMed/12671055" } ], "site_lbl": "Ser16" }, { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "7775468", "url": "https://glygen.org/publication/PubMed/7775468" } ], "site_lbl": "Ser16" }, { "start_pos": 222, "end_pos": 222, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser222" }, { "start_pos": 226, "end_pos": 226, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ], "site_lbl": "Thr226" }, { "start_pos": 228, "end_pos": 228, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser228" }, { "start_pos": 260, "end_pos": 260, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" }, { "database": "PubMed", "id": "17389395", "url": "https://glygen.org/publication/PubMed/17389395" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "phospho.ELM", "id": "P05023", "url": "http://phospho.elm.eu.org/byAccession/P05023.html" } ], "site_lbl": "Tyr260" }, { "start_pos": 310, "end_pos": 310, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Ser310" }, { "start_pos": 40, "end_pos": 40, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser40" }, { "start_pos": 452, "end_pos": 452, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser452" }, { "start_pos": 47, "end_pos": 47, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ], "site_lbl": "Ser47" }, { "start_pos": 484, "end_pos": 484, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser484" }, { "start_pos": 542, "end_pos": 542, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "site_lbl": "Tyr542" }, { "start_pos": 617, "end_pos": 617, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr617" }, { "start_pos": 668, "end_pos": 668, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser668" }, { "start_pos": 675, "end_pos": 675, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser675" }, { "start_pos": 722, "end_pos": 722, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser722" }, { "start_pos": 742, "end_pos": 742, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser742" }, { "start_pos": 943, "end_pos": 943, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" }, { "database": "PubMed", "id": "15621037", "url": "https://glygen.org/publication/PubMed/15621037" } ], "site_lbl": "Ser943" }, { "start_pos": 943, "end_pos": 943, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "site_lbl": "Ser943" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1999", "authors": "Ganapathy ME, Prasad PD, Huang W, Seth P, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "10087012", "url": "https://glygen.org/publication/PubMed/10087012" } ] }, { "title": "ATP-Sensitive K+ channel modulator binding to sulfonylurea receptors SUR2A and SUR2B: opposite effects of MgADP.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Hambrock A, Loffler-Walz C, Kloor D, Delabar U, Horio Y, Kurachi Y, Quast U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "10220561", "url": "https://glygen.org/publication/PubMed/10220561" } ] }, { "title": "Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.", "journal": "Human molecular genetics", "date": "1999", "authors": "Ambrosini L, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10401004", "url": "https://glygen.org/publication/PubMed/10401004" } ] }, { "title": "Insulin-induced stimulation of Na+,K(+)-ATPase activity in kidney proximal tubule cells depends on phosphorylation of the alpha-subunit at Tyr-10.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Feraille E, Carranza ML, Gonin S, Beguin P, Pedemonte C, Rousselot M, Caverzasio J, Geering K, Martin PY, Favre H", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "10473631", "url": "https://glygen.org/publication/PubMed/10473631" } ] }, { "title": "The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.", "journal": "Human molecular genetics", "date": "1999", "authors": "Petris MJ, Mercer JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10484781", "url": "https://glygen.org/publication/PubMed/10484781" } ] }, { "title": "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.", "journal": "Nature genetics", "date": "2000", "authors": "Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10615129", "url": "https://glygen.org/publication/PubMed/10615129" } ] }, { "title": "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.", "journal": "Human molecular genetics", "date": "2000", "authors": "Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "10767338", "url": "https://glygen.org/publication/PubMed/10767338" } ] }, { "title": "Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition.", "journal": "Biochemistry", "date": "2000", "authors": "Bush EW, Helmke SM, Birnbaum RA, Perryman MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "10913253", "url": "https://glygen.org/publication/PubMed/10913253" } ] }, { "title": "Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.", "journal": "Nature genetics", "date": "2000", "authors": "Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "11062458", "url": "https://glygen.org/publication/PubMed/11062458" } ] }, { "title": "Identification of an S-adenosylhomocysteine hydrolase-like transcript induced during dendritic cell differentiation.", "journal": "Immunogenetics", "date": "2002", "authors": "Dekker JW, Budhia S, Angel NZ, Cooper BJ, Clark GJ, Hart DN, Kato M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "11904675", "url": "https://glygen.org/publication/PubMed/11904675" } ] }, { "title": "Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4.", "journal": "Gene", "date": "2002", "authors": "Keryanov S, Gardner KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "12119109", "url": "https://glygen.org/publication/PubMed/12119109" } ] }, { "title": "Hypoxia-induced endocytosis of Na,K-ATPase in alveolar epithelial cells is mediated by mitochondrial reactive oxygen species and PKC-zeta.", "journal": "The Journal of clinical investigation", "date": "2003", "authors": "Dada LA, Chandel NS, Ridge KM, Pedemonte C, Bertorello AM, Sznajder JI", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "reference": [ { "type": "PubMed", "id": "12671055", "url": "https://glygen.org/publication/PubMed/12671055" } ] }, { "title": "Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase.", "journal": "FEBS letters", "date": "2003", "authors": "Zhang R, Epstein HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "12832055", "url": "https://glygen.org/publication/PubMed/12832055" } ] }, { "title": "Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.", "journal": "Annals of neurology", "date": "2003", "authors": "Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "12953268", "url": "https://glygen.org/publication/PubMed/12953268" } ] }, { "title": "Predominant naturally processed peptides bound to HLA-DR1 are derived from MHC-related molecules and are heterogeneous in size.", "journal": "Nature", "date": "1992", "authors": "Chicz RM, Urban RG, Lane WS, Gorga JC, Stern LJ, Vignali DA, Strominger JL", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "1380674", "url": "https://glygen.org/publication/PubMed/1380674" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Clathrin-mediated endocytosis of Na+,K+-ATPase in response to parathyroid hormone requires ERK-dependent phosphorylation of Ser-11 within the alpha1-subunit.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Khundmiri SJ, Bertorello AM, Delamere NA, Lederer ED", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "reference": [ { "type": "PubMed", "id": "14976217", "url": "https://glygen.org/publication/PubMed/14976217" } ] }, { "title": "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.", "journal": "Annals of neurology", "date": "2004", "authors": "Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "15174025", "url": "https://glygen.org/publication/PubMed/15174025" } ] }, { "title": "Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.", "journal": "Neuron", "date": "2004", "authors": "de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "15260953", "url": "https://glygen.org/publication/PubMed/15260953" } ] }, { "title": "Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kaliman P, Catalucci D, Lam JT, Kondo R, Gutierrez JC, Reddy S, Palacin M, Zorzano A, Chien KR, Ruiz-Lozano P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "15598648", "url": "https://glygen.org/publication/PubMed/15598648" } ] }, { "title": "Serine 68 phosphorylation of phospholemman: acute isoform-specific activation of cardiac Na/K ATPase.", "journal": "Cardiovascular research", "date": "2005", "authors": "Silverman Bd, Fuller W, Eaton P, Deng J, Moorman JR, Cheung JY, James AF, Shattock MJ", "evidence": [ { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "reference": [ { "type": "PubMed", "id": "15621037", "url": "https://glygen.org/publication/PubMed/15621037" } ] }, { "title": "Sorcin interacts with sarcoplasmic reticulum Ca(2+)-ATPase and modulates excitation-contraction coupling in the heart.", "journal": "Basic research in cardiology", "date": "2005", "authors": "Matsumoto T, Hisamatsu Y, Ohkusa T, Inoue N, Sato T, Suzuki S, Ikeda Y, Matsuzaki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "15754088", "url": "https://glygen.org/publication/PubMed/15754088" } ] }, { "title": "The secretory pathway Ca2+/Mn2+-ATPase 2 is a Golgi-localized pump with high affinity for Ca2+ ions.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Vanoevelen J, Dode L, Van Baelen K, Fairclough RJ, Missiaen L, Raeymaekers L, Wuytack F", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15831496", "url": "https://glygen.org/publication/PubMed/15831496" } ] }, { "title": "The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Paulusma CC, Oude Elferink RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15919184", "url": "https://glygen.org/publication/PubMed/15919184" } ] }, { "title": "Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.", "journal": "Genomics", "date": "2005", "authors": "Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnstrom K, Jarvela I, Scherer SW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "15925480", "url": "https://glygen.org/publication/PubMed/15925480" } ] }, { "title": "Chloroquine is a potent inhibitor of SARS coronavirus infection and spread.", "journal": "Virology journal", "date": "2005", "authors": "Vincent MJ, Bergeron E, Benjannet S, Erickson BR, Rollin PE, Ksiazek TG, Seidah NG, Nichol ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "16115318", "url": "https://glygen.org/publication/PubMed/16115318" } ] }, { "title": "Identification and characterization of a novel Cut family cDNA that encodes human copper transporter protein CutC.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Li J, Ji C, Chen J, Yang Z, Wang Y, Fei X, Zheng M, Gu X, Wen G, Xie Y, Mao Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16182249", "url": "https://glygen.org/publication/PubMed/16182249" } ] }, { "title": "Chronic antidepressants potentiate via sigma-1 receptors the brain-derived neurotrophic factor-induced signaling for glutamate release.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Yagasaki Y, Numakawa T, Kumamaru E, Hayashi T, Su TP, Kunugi H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "16522641", "url": "https://glygen.org/publication/PubMed/16522641" } ] }, { "title": "cDNA cloning of the beta-subunit of the human gastric H,K-ATPase.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Ma JY, Song YH, Sjostrand SE, Rask L, Mardh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "1656976", "url": "https://glygen.org/publication/PubMed/1656976" } ] }, { "title": "Review article: the clinical pharmacology of proton pump inhibitors.", "journal": "Alimentary pharmacology & therapeutics", "date": "2006", "authors": "Sachs G, Shin JM, Howden CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "16700898", "url": "https://glygen.org/publication/PubMed/16700898" } ] }, { "title": "Suppression and overexpression of adenosylhomocysteine hydrolase-like protein 1 (AHCYL1) influences zebrafish embryo development: a possible role for AHCYL1 in inositol phospholipid signaling.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Cooper BJ, Key B, Carter A, Angel NZ, Hart DN, Kato M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "16754674", "url": "https://glygen.org/publication/PubMed/16754674" } ] }, { "title": "Receptor-activated single channels in intact human platelets.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Mahaut-Smith MP, Sage SO, Rink TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "1693919", "url": "https://glygen.org/publication/PubMed/1693919" } ] }, { "title": "Effects of HER2 overexpression on cell signaling networks governing proliferation and migration.", "journal": "Molecular systems biology", "date": "2006", "authors": "Wolf-Yadlin A, Kumar N, Zhang Y, Hautaniemi S, Zaman M, Kim HD, Grantcharova V, Lauffenburger DA, White FM", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "17016520", "url": "https://glygen.org/publication/PubMed/17016520" } ] }, { "title": "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.", "journal": "J. Proteome Res.", "date": "2006", "authors": "Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "17081065", "url": "https://glygen.org/publication/PubMed/17081065" } ] }, { "title": "Dynamic assembly of TRPC1-STIM1-Orai1 ternary complex is involved in store-operated calcium influx. Evidence for similarities in store-operated and calcium release-activated calcium channel components.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ong HL, Cheng KT, Liu X, Bandyopadhyay BC, Paria BC, Soboloff J, Pani B, Gwack Y, Srikanth S, Singh BB, Gill DL, Ambudkar IS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "17224452", "url": "https://glygen.org/publication/PubMed/17224452" } ] }, { "title": "A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia.", "journal": "American journal of human genetics", "date": "2007", "authors": "Choudhury K, McQuillin A, Puri V, Pimm J, Datta S, Thirumalai S, Krasucki R, Lawrence J, Bass NJ, Quested D, Crombie C, Fraser G, Walker N, Nadeem H, Johnson S, Curtis D, St Clair D, Gurling HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "17357072", "url": "https://glygen.org/publication/PubMed/17357072" } ] }, { "title": "Multiple reaction monitoring for robust quantitative proteomic analysis of cellular signaling networks.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Wolf-Yadlin A, Hautaniemi S, Lauffenburger DA, White FM", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "17389395", "url": "https://glygen.org/publication/PubMed/17389395" } ] }, { "title": "STIM1 heteromultimerizes TRPC channels to determine their function as store-operated channels.", "journal": "Nature cell biology", "date": "2007", "authors": "Yuan JP, Zeng W, Huang GN, Worley PF, Muallem S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "17486119", "url": "https://glygen.org/publication/PubMed/17486119" } ] }, { "title": "High occupancy of sigma-1 receptors in the human brain after single oral administration of fluvoxamine: a positron emission tomography study using [11C]SA4503.", "journal": "Biological psychiatry", "date": "2007", "authors": "Ishikawa M, Ishiwata K, Ishii K, Kimura Y, Sakata M, Naganawa M, Oda K, Miyatake R, Fujisaki M, Shimizu E, Shirayama Y, Iyo M, Hashimoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "17662961", "url": "https://glygen.org/publication/PubMed/17662961" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Phosphoproteomic analysis of human brain by calcium phosphate precipitation and mass spectrometry.", "journal": "Journal of proteome research", "date": "2008", "authors": "Xia Q, Cheng D, Duong DM, Gearing M, Lah JJ, Levey AI, Peng J", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ] }, { "title": "Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.", "journal": "Exp. Cell Res.", "date": "2008", "authors": "Uusi-Rauva Kristiina, Luiro Kaisu, Tanhuanp\u00e4\u00e4 Kimmo, Kopra Outi, Mart\u00edn-Vasallo Pablo, Kytt\u00e4l\u00e4 Aija, Jalanko Anu", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "18621045", "url": "https://glygen.org/publication/PubMed/18621045" } ] }, { "title": "Immobilized metal affinity chromatography revisited: pH/acid control toward high selectivity in phosphoproteomics.", "journal": "Journal of proteome research", "date": "2008", "authors": "Tsai CF, Wang YT, Chen YR, Lai CY, Lin PY, Pan KT, Chen JY, Khoo KH, Chen YJ", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "18707149", "url": "https://glygen.org/publication/PubMed/18707149" } ] }, { "title": "Knock down of Caenorhabditis elegans cutc-1 exacerbates the sensitivity toward high levels of copper.", "journal": "Toxicological sciences : an official journal of the Society of Toxicology", "date": "2008", "authors": "Calafato S, Swain S, Hughes S, Kille P, Sturzenbaum SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "18723824", "url": "https://glygen.org/publication/PubMed/18723824" } ] }, { "title": "STIM1 gates TRPC channels, but not Orai1, by electrostatic interaction.", "journal": "Molecular cell", "date": "2008", "authors": "Zeng W, Yuan JP, Kim MS, Choi YJ, Huang GN, Worley PF, Muallem S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "18995841", "url": "https://glygen.org/publication/PubMed/18995841" } ] }, { "title": "Specific role of neuronal nitric-oxide synthase when tethered to the plasma membrane calcium pump in regulating the beta-adrenergic signal in the myocardium.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Mohamed TM, Oceandy D, Prehar S, Alatwi N, Hegab Z, Baudoin FM, Pickard A, Zaki AO, Nadif R, Cartwright EJ, Neyses L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "19278978", "url": "https://glygen.org/publication/PubMed/19278978" } ] }, { "title": "Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Schmidt K, Wolfe DM, Stiller B, Pearce DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19345671", "url": "https://glygen.org/publication/PubMed/19345671" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism.", "journal": "Genomics", "date": "1990", "authors": "Shull M M, Pugh D G, Lingrel J B", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "1970326", "url": "https://glygen.org/publication/PubMed/1970326" } ] }, { "title": "Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1.", "journal": "European journal of pharmacology", "date": "2009", "authors": "Hauck C, Potter T, Bartz M, Wittwer T, Wahlers T, Mehlhorn U, Scheiner-Bobis G, McDonough AA, Bloch W, Schwinger RH, Muller-Ehmsen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "19751721", "url": "https://glygen.org/publication/PubMed/19751721" } ] }, { "title": "Crystal structure of human copper homeostasis protein CutC reveals a potential copper-binding site.", "journal": "Journal of structural biology", "date": "2010", "authors": "Li Y, Du J, Zhang P, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "19878721", "url": "https://glygen.org/publication/PubMed/19878721" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Identification of a primary target of thalidomide teratogenicity.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Ito T, Ando H, Suzuki T, Ogura T, Hotta K, Imamura Y, Yamaguchi Y, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "20223979", "url": "https://glygen.org/publication/PubMed/20223979" } ] }, { "title": "Selectivity of digitalis glycosides for isoforms of human Na,K-ATPase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Katz A, Lifshitz Y, Bab-Dinitz E, Kapri-Pardes E, Goldshleger R, Tal DM, Karlish SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "20388710", "url": "https://glygen.org/publication/PubMed/20388710" } ] }, { "title": "Phosphorylation and mutation of phospholamban alter physical interactions with the sarcoplasmic reticulum calcium pump.", "journal": "Journal of molecular biology", "date": "2011", "authors": "Glaves JP, Trieber CA, Ceholski DK, Stokes DL, Young HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "21108950", "url": "https://glygen.org/publication/PubMed/21108950" } ] }, { "title": "FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit.", "journal": "J. Biol. Chem.", "date": "2011", "authors": "Bibert S, Liu CC, Figtree GA, Garcia A, Hamilton EJ, Marassi FM, Sweadner KJ, Cornelius F, Geering K, Rasmussen HH", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "21454534", "url": "https://glygen.org/publication/PubMed/21454534" } ] }, { "title": "Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Maeda M, Oshiman K, Tamura S, Futai M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "2160952", "url": "https://glygen.org/publication/PubMed/2160952" } ] }, { "title": "POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2011", "authors": "Krapivinsky G, Krapivinsky L, Stotz SC, Manasian Y, Clapham DE", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "22084111", "url": "https://glygen.org/publication/PubMed/22084111" } ] }, { "title": "PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.", "journal": "Human molecular genetics", "date": "2012", "authors": "Ramonet D, Podhajska A, Stafa K, Sonnay S, Trancikova A, Tsika E, Pletnikova O, Troncoso JC, Glauser L, Moore DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "22186024", "url": "https://glygen.org/publication/PubMed/22186024" } ] }, { "title": "The Ca(2+) sensor stromal interaction molecule 1 (STIM1) is necessary and sufficient for the store-operated Ca(2+) entry function of transient receptor potential canonical (TRPC) 1 and 4 channels in endothelial cells.", "journal": "Molecular pharmacology", "date": "2012", "authors": "Sundivakkam PC, Freichel M, Singh V, Yuan JP, Vogel SM, Flockerzi V, Malik AB, Tiruppathi C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "22210847", "url": "https://glygen.org/publication/PubMed/22210847" } ] }, { "title": "A common motif of two adjacent phosphoserines in bovine, rabbit and human cardiac troponin I.", "journal": "FEBS letters", "date": "1990", "authors": "Mittmann K, Jaquet K, Heilmeyer LM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2226863", "url": "https://glygen.org/publication/PubMed/2226863" } ] }, { "title": "An extension of hypotheses regarding rapid-acting, treatment-refractory, and conventional antidepressant activity of dextromethorphan and dextrorphan.", "journal": "Medical hypotheses", "date": "2012", "authors": "Lauterbach EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22401777", "url": "https://glygen.org/publication/PubMed/22401777" } ] }, { "title": "Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Ceholski DK, Trieber CA, Young HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "22427649", "url": "https://glygen.org/publication/PubMed/22427649" } ] }, { "title": "Cereblon is a direct protein target for immunomodulatory and antiproliferative activities of lenalidomide and pomalidomide.", "journal": "Leukemia", "date": "2012", "authors": "Lopez-Girona A, Mendy D, Ito T, Miller K, Gandhi AK, Kang J, Karasawa S, Carmel G, Jackson P, Abbasian M, Mahmoudi A, Cathers B, Rychak E, Gaidarova S, Chen R, Schafer PH, Handa H, Daniel TO, Evans JF, Chopra R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22552008", "url": "https://glygen.org/publication/PubMed/22552008" } ] }, { "title": "Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Ceholski DK, Trieber CA, Holmes CF, Young HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "22707725", "url": "https://glygen.org/publication/PubMed/22707725" } ] }, { "title": "An overview of tubulin inhibitors that interact with the colchicine binding site.", "journal": "Pharmaceutical research", "date": "2012", "authors": "Lu Y, Chen J, Xiao M, Li W, Miller DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "22814904", "url": "https://glygen.org/publication/PubMed/22814904" } ] }, { "title": "Multiple reaction monitoring to identify site-specific troponin I phosphorylated residues in the failing human heart.", "journal": "Circulation", "date": "2012", "authors": "Zhang P, Kirk JA, Ji W, dos Remedios CG, Kass DA, Van Eyk JE, Murphy AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "22972900", "url": "https://glygen.org/publication/PubMed/22972900" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "iPTMnet", "id": "P05023", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.", "journal": "Acta neurologica Taiwanica", "date": "2012", "authors": "Lai HJ, Lin CH, Wu RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "23196729", "url": "https://glygen.org/publication/PubMed/23196729" } ] }, { "title": "Sarco(endo)plasmic reticulum calcium ATPase (SERCA) inhibition by sarcolipin is encoded in its luminal tail.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Gorski PA, Glaves JP, Vangheluwe P, Young HS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "23362265", "url": "https://glygen.org/publication/PubMed/23362265" } ] }, { "title": "Plasma membrane calcium ATPase 4b inhibits nitric oxide generation through calcium-induced dynamic interaction with neuronal nitric oxide synthase.", "journal": "Protein & cell", "date": "2013", "authors": "Duan W, Zhou J, Li W, Zhou T, Chen Q, Yang F, Wei T", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "23549614", "url": "https://glygen.org/publication/PubMed/23549614" } ] }, { "title": "Inherited cardiomyopathies caused by troponin mutations.", "journal": "Journal of geriatric cardiology : JGC", "date": "2013", "authors": "Lu QW, Wu XY, Morimoto S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "23610579", "url": "https://glygen.org/publication/PubMed/23610579" } ] }, { "title": "From alpha4beta2 Nicotinic Ligands to the Discovery of sigma1 Receptor Ligands: Pharmacophore Analysis and Rational Design.", "journal": "ACS medicinal chemistry letters", "date": "2012", "authors": "Yu LF, Zhang HK, Gunosewoyo H, Kozikowski AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "23641311", "url": "https://glygen.org/publication/PubMed/23641311" } ] }, { "title": "4-Acyl pyrroles: mimicking acetylated lysines in histone code reading.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2013", "authors": "Lucas X, Wohlwend D, Hugle M, Schmidtkunz K, Gerhardt S, Schule R, Jung M, Einsle O, Gunther S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "24272870", "url": "https://glygen.org/publication/PubMed/24272870" } ] }, { "title": "Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence.", "journal": "J. Biochem.", "date": "1986", "authors": "Kawakami K, Ohta T, Nojima H, Nagano K", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" }, { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2430951", "url": "https://glygen.org/publication/PubMed/2430951" } ] }, { "title": "The yeast p5 type ATPase, spf1, regulates manganese transport into the endoplasmic reticulum.", "journal": "PloS one", "date": "2013", "authors": "Cohen Y, Megyeri M, Chen OC, Condomitti G, Riezman I, Loizides-Mangold U, Abdul-Sada A, Rimon N, Riezman H, Platt FM, Futerman AH, Schuldiner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "24392018", "url": "https://glygen.org/publication/PubMed/24392018" } ] }, { "title": "Dual kinase-bromodomain inhibitors for rationally designed polypharmacology.", "journal": "Nature chemical biology", "date": "2014", "authors": "Ciceri P, Muller S, O'Mahony A, Fedorov O, Filippakopoulos P, Hunt JP, Lasater EA, Pallares G, Picaud S, Wells C, Martin S, Wodicka LM, Shah NP, Treiber DK, Knapp S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "24584101", "url": "https://glygen.org/publication/PubMed/24584101" } ] }, { "title": "Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Shull MM, Pugh DG, Lingrel JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2477373", "url": "https://glygen.org/publication/PubMed/2477373" } ] }, { "title": "Characterization of two genes for the human Na,K-ATPase beta subunit.", "journal": "Genomics", "date": "1989", "authors": "Lane LK, Shull MM, Whitmer KR, Lingrel JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2559024", "url": "https://glygen.org/publication/PubMed/2559024" } ] }, { "title": "Structure guided design of potent and selective ponatinib-based hybrid inhibitors for RIPK1.", "journal": "Cell reports", "date": "2015", "authors": "Najjar M, Suebsuwong C, Ray SS, Thapa RJ, Maki JL, Nogusa S, Shah S, Saleh D, Gough PJ, Bertin J, Yuan J, Balachandran S, Cuny GD, Degterev A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "25801024", "url": "https://glygen.org/publication/PubMed/25801024" } ] }, { "title": "Cardiac glycosides induced toxicity in human cells expressing alpha1-, alpha2-, or alpha3-isoforms of Na-K-ATPase.", "journal": "American journal of physiology. Cell physiology", "date": "2015", "authors": "Cherniavsky Lev M, Karlish SJ, Garty H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "25994790", "url": "https://glygen.org/publication/PubMed/25994790" } ] }, { "title": "CC-122, a pleiotropic pathway modifier, mimics an interferon response and has antitumor activity in DLBCL.", "journal": "Blood", "date": "2015", "authors": "Hagner PR, Man HW, Fontanillo C, Wang M, Couto S, Breider M, Bjorklund C, Havens CG, Lu G, Rychak E, Raymon H, Narla RK, Barnes L, Khambatta G, Chiu H, Kosek J, Kang J, Amantangelo MD, Waldman M, Lopez-Girona A, Cai T, Pourdehnad M, Trotter M, Daniel TO, Schafer PH, Klippel A, Thakurta A, Chopra R, Gandhi AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "26002965", "url": "https://glygen.org/publication/PubMed/26002965" } ] }, { "title": "Comparative analysis of Cu (I)-catalyzed alkyne-azide cycloaddition (CuAAC) and strain-promoted alkyne-azide cycloaddition (SPAAC) in O-GlcNAc proteomics.", "journal": "Electrophoresis", "date": "2016", "authors": "Li S, Zhu H, Wang J, Wang X, Li X, Ma C, Wen L, Yu B, Wang Y, Li J, Wang PG", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "26853435", "url": "https://glygen.org/publication/PubMed/26853435" } ] }, { "title": "Pharmacokinetics, Pharmacodynamics and Safety of Multiple-Infusion Ilaprazole in Healthy Chinese Subjects.", "journal": "Clinical drug investigation", "date": "2016", "authors": "Wang H, Lang L, Ou N, Shi R, Hu H, Hu P, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "27067231", "url": "https://glygen.org/publication/PubMed/27067231" } ] }, { "title": "Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein.", "journal": "FEBS letters", "date": "1988", "authors": "Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Allikmets RL, Kostina MB, Dulubova IE, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2838329", "url": "https://glygen.org/publication/PubMed/2838329" } ] }, { "title": "A Cereblon Modulator (CC-220) with Improved Degradation of Ikaros and Aiolos.", "journal": "Journal of medicinal chemistry", "date": "2018", "authors": "Matyskiela ME, Zhang W, Man HW, Muller G, Khambatta G, Baculi F, Hickman M, LeBrun L, Pagarigan B, Carmel G, Lu CC, Lu G, Riley M, Satoh Y, Schafer P, Daniel TO, Carmichael J, Cathers BE, Chamberlain PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "28425720", "url": "https://glygen.org/publication/PubMed/28425720" } ] }, { "title": "Inhibition of Non Canonical HIV-1 Tat Secretion Through the Cellular Na(+),K(+)-ATPase Blocks HIV-1 Infection.", "journal": "EBioMedicine", "date": "2017", "authors": "Agostini S, Ali H, Vardabasso C, Fittipaldi A, Tasciotti E, Cereseto A, Bugatti A, Rusnati M, Lusic M, Giacca M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "28645727", "url": "https://glygen.org/publication/PubMed/28645727" } ] }, { "title": "Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Chehab F F, Kan Y W, Law M L, Hartz J, Kao F T, Blostein R", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "2891135", "url": "https://glygen.org/publication/PubMed/2891135" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" }, { "database": "O-GlcNAc Atlas", "id": "P05023", "url": "https://oglcnac.org/atlas/detail/P05023" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.", "journal": "American journal of human genetics", "date": "2018", "authors": "Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brozkova DS, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "29499166", "url": "https://glygen.org/publication/PubMed/29499166" } ] }, { "title": "Ca2+-activated ATPase in microsomes from human liver.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Spamer C, Heilmann C, Gerok W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "2953725", "url": "https://glygen.org/publication/PubMed/2953725" } ] }, { "title": "Cereblon modulator iberdomide induces degradation of the transcription factors Ikaros and Aiolos: immunomodulation in healthy volunteers and relevance to systemic lupus erythematosus.", "journal": "Annals of the rheumatic diseases", "date": "2018", "authors": "Schafer PH, Ye Y, Wu L, Kosek J, Ringheim G, Yang Z, Liu L, Thomas M, Palmisano M, Chopra R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "29945920", "url": "https://glygen.org/publication/PubMed/29945920" } ] }, { "title": "A First-in-Human Study of Novel Cereblon Modulator Avadomide (CC-122) in Advanced Malignancies.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2019", "authors": "Rasco DW, Papadopoulos KP, Pourdehnad M, Gandhi AK, Hagner PR, Li Y, Wei X, Chopra R, Hege K, DiMartino J, Shih K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "30201761", "url": "https://glygen.org/publication/PubMed/30201761" } ] }, { "title": "Multiple genes encode the human Na+,K+-ATPase catalytic subunit.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1987", "authors": "Shull MM, Lingrel JB", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "3035563", "url": "https://glygen.org/publication/PubMed/3035563" } ] }, { "title": "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.", "journal": "FEBS Lett.", "date": "1987", "authors": "Sverdlov E D, Monastyrskaya G S, Broude N E, Ushkaryov YuA , Allikmets R L, Melkov A M, Smirnov YuV , Malyshev I V, Dulobova I E, Petrukhin K E", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "3036582", "url": "https://glygen.org/publication/PubMed/3036582" } ] }, { "title": "Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.", "journal": "American journal of human genetics", "date": "2018", "authors": "Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, Konig J, Lee JJY, Drogemoller B, Imminger K, Beck BB, Altmuller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "30388404", "url": "https://glygen.org/publication/PubMed/30388404" } ] }, { "title": "Combinatorial regulation of hepatic cytoplasmic signaling and nuclear transcriptional events by the OGT/REV-ERBalpha complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Berthier A, Vinod M, Porez G, Steenackers A, Alexandre J, Yamakawa N, Gheeraert C, Ploton M, Marechal X, Dubois-Chevalier J, Hovasse A, Schaeffer-Reiss C, Cianferani S, Rolando C, Bray F, Duez H, Eeckhoute J, Lefebvre T, Staels B, Lefebvre P", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "30397120", "url": "https://glygen.org/publication/PubMed/30397120" } ] }, { "title": "Targeting RIPK1 for the treatment of human diseases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2019", "authors": "Degterev A, Ofengeim D, Yuan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "31048504", "url": "https://glygen.org/publication/PubMed/31048504" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05023", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05023" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Functional Analysis and Clinical Importance of ATP1A1 in Colon Cancer.", "journal": "Annals of surgical oncology", "date": "2023-10", "authors": "Sumiyoshi Shutaro, Shiozaki Atsushi, Kosuga Toshiyuki, Simizu Hiroki, Kudo Michihiro, Kiuchi Jun, Arita Tomohiro, Konishi Hirotaka, Komatsu Shuhei, Kuriu Yoshiaki, Kubota Takeshi, Fujiwara Hitoshi, Morinaga Yukiko, Konishi Eiichi, Otsuji Eigo", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ], "reference": [ { "type": "PubMed", "id": "37407874", "url": "https://glygen.org/publication/PubMed/37407874" } ] }, { "title": "Silencing of ATP1A1 attenuates cell membrane disruption by nanosecond electric pulses.", "journal": "Biochemical and biophysical research communications", "date": "2023-10-15", "authors": "Silkuniene Giedre, Mangalanathan Uma M, Pakhomov Andrei G, Pakhomova Olga N", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ], "reference": [ { "type": "PubMed", "id": "37566922", "url": "https://glygen.org/publication/PubMed/37566922" } ] }, { "title": "ATP1A1-linked diseases require a malfunctioning protein product from one allele.", "journal": "Biochimica et biophysica acta. Molecular cell research", "date": "2024-01", "authors": "Spontarelli Kerri, Young Victoria C, Sweazey Ryan, Padro Alexandria, Lee Jeannie, Bueso Tulio, Hernandez Roberto M, Kim Jongyeol, Katz Alexander, Rossignol Francis, Turner Clesson, Wilczewski Caralynn M, Maxwell George L, Holmgren Miguel, Bailoo Jeremy D, Yano Sho T, Artigas Pablo", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ], "reference": [ { "type": "PubMed", "id": "37659504", "url": "https://glygen.org/publication/PubMed/37659504" } ] }, { "title": "Normalization of the ATP1A1 Signalosome Rescinds Epigenetic Modifications and Induces Cell Autophagy in Hepatocellular Carcinoma.", "journal": "Cells", "date": "2023-09-27", "authors": "Rajan Pradeep Kumar, Udoh Utibe-Abasi S, Nakafuku Yuto, Pierre Sandrine V, Sanabria Juan", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ], "reference": [ { "type": "PubMed", "id": "37830582", "url": "https://glygen.org/publication/PubMed/37830582" } ] }, { "title": "ATP1A1/BCL2L1 predicts the response of myelomonocytic and monocytic acute myeloid leukemia to cardiac glycosides.", "journal": "Leukemia", "date": "2024-01", "authors": "Cerella Claudia, Gajulapalli Sruthi Reddy, Lorant Anne, Gerard Deborah, Muller Florian, Lee Yejin, Kim Kyung Rok, Han Byung Woo, Christov Christo, R\u00e9cher Christian, Sarry Jean-Emmanuel, Dicato Mario, Diederich Marc", "evidence": [ { "database": "RefSeq", "id": "NP_000692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000692" } ], "reference": [ { "type": "PubMed", "id": "37904054", "url": "https://glygen.org/publication/PubMed/37904054" } ] }, { "title": "The basic mechanism of inotropic action of digitalis glycosides.", "journal": "Journal de pharmacologie", "date": "1984", "authors": "Smith TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "6328127", "url": "https://glygen.org/publication/PubMed/6328127" } ] }, { "title": "Effect of omeprazole--a gastric proton pump inhibitor--on pentagastrin stimulated acid secretion in man.", "journal": "Gut", "date": "1983", "authors": "Lind T, Cederberg C, Ekenved G, Haglund U, Olbe L", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "6832622", "url": "https://glygen.org/publication/PubMed/6832622" } ] }, { "title": "Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium.", "journal": "Gene", "date": "1995", "authors": "Ruiz A, Bhat S P, Bok D", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "7536695", "url": "https://glygen.org/publication/PubMed/7536695" } ] }, { "title": "The Wilson disease gene: spectrum of mutations and their consequences.", "journal": "Nature genetics", "date": "1995", "authors": "Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "7626145", "url": "https://glygen.org/publication/PubMed/7626145" } ] }, { "title": "Localization and identification of Ca2+ATPases in highly purified human platelet plasma and intracellular membranes. Evidence that the monoclonal antibody PL/IM 430 recognizes the SERCA 3 Ca2+ATPase in human platelets.", "journal": "The Biochemical journal", "date": "1995", "authors": "Bokkala S, el-Daher SS, Kakkar VV, Wuytack F, Authi KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "7702581", "url": "https://glygen.org/publication/PubMed/7702581" } ] }, { "title": "Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle.", "journal": "Mol. Membr. Biol.", "date": "1994", "authors": "Hundal H S, Maxwell D L, Ahmed A, Darakhshan F, Mitsumoto Y, Klip A", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "reference": [ { "type": "PubMed", "id": "7711835", "url": "https://glygen.org/publication/PubMed/7711835" } ] }, { "title": "Structural basis for species-specific differences in the phosphorylation of Na,K-ATPase by protein kinase C.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Feschenko MS, Sweadner KJ", "evidence": [ { "database": "iPTMnet", "id": "P05023-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05023-1" } ], "reference": [ { "type": "PubMed", "id": "7775468", "url": "https://glygen.org/publication/PubMed/7775468" } ] }, { "title": "Identification of Ser38 as the site in cardiac sarcoplasmic reticulum Ca(2+)-ATPase that is phosphorylated by Ca2+/calmodulin-dependent protein kinase.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Toyofuku T, Curotto Kurzydlowski K, Narayanan N, MacLennan DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "7929371", "url": "https://glygen.org/publication/PubMed/7929371" } ] }, { "title": "Cloning and characterization of the entire cDNA encoded by ATP1AL1--a member of the human Na,K/H,K-ATPase gene family.", "journal": "FEBS letters", "date": "1994", "authors": "Grishin AV, Sverdlov VE, Kostina MB, Modyanov NN", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8045293", "url": "https://glygen.org/publication/PubMed/8045293" } ] }, { "title": "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.", "journal": "Nature genetics", "date": "1993", "authors": "Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8298639", "url": "https://glygen.org/publication/PubMed/8298639" } ] }, { "title": "Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.", "journal": "Nature genetics", "date": "1993", "authors": "Chelly J, Tumer Z, Tonnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8490646", "url": "https://glygen.org/publication/PubMed/8490646" } ] }, { "title": "Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.", "journal": "Nature genetics", "date": "1993", "authors": "Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "8490659", "url": "https://glygen.org/publication/PubMed/8490659" } ] }, { "title": "Identification of the mammalian Na,K-ATPase 3 subunit.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Malik N, Canfield VA, Beckers MC, Gros P, Levenson R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "8798450", "url": "https://glygen.org/publication/PubMed/8798450" } ] }, { "title": "Expression and synthesis of the Na,K-ATPase beta 2 subunit in human retinal pigment epithelium.", "journal": "Gene", "date": "1996", "authors": "Ruiz A, Bhat SP, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "8918259", "url": "https://glygen.org/publication/PubMed/8918259" } ] }, { "title": "Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.", "journal": "Human molecular genetics", "date": "1997", "authors": "Dierick HA, Adam AN, Escara-Wilke JF, Glover TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "9147644", "url": "https://glygen.org/publication/PubMed/9147644" } ] }, { "title": "Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.", "journal": "The Biochemical journal", "date": "1997", "authors": "Yang XL, Miura N, Kawarada Y, Terada K, Petrukhin K, Gilliam T, Sugiyama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-936837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837" } ], "reference": [ { "type": "PubMed", "id": "9307043", "url": "https://glygen.org/publication/PubMed/9307043" } ] }, { "title": "The ordered phosphorylation of cardiac troponin I by the cAMP-dependent protein kinase--structural consequences and functional implications.", "journal": "European journal of biochemistry", "date": "1997", "authors": "Keane NE, Quirk PG, Gao Y, Patchell VB, Perry SV, Levine BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "9346285", "url": "https://glygen.org/publication/PubMed/9346285" } ] } ], "pathway": [ { "id": "hsa:476", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:476", "resource": "KEGG Pathway" }, { "id": "R-HSA-5578775", "name": "Ion homeostasis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775", "resource": "Reactome", "description": "Ion homeostasis" }, { "id": "R-HSA-936837", "name": "Ion transport by P-type ATPases", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936837", "resource": "Reactome", "description": "Ion transport by P-type ATPases" }, { "id": "R-HSA-9679191", "name": "Potential therapeutics for SARS", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191", "resource": "Reactome", "description": "Potential therapeutics for SARS" } ], "orthologs": [ { "uniprot_canonical_ac": "P06685-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "Atp1a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGKGVGRDKYEPAAVSEHGDKKSKKAKKERDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTPARAAEILARDGPNALTPPPTTPEWVKFCRQLFGGFSMLLWIGAILCFLAYGIRSATEEEPPNDDLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEDVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAEEIEHFIHLITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWFALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIEVCCGSVMEMREKYTKIVEIPFNSTNKYQLSIHKNPNASEPKHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLLLPDEQFPEGFQFDTDEVNFPVDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVNQVNPRDAKACVVHGSDLKDMTSEELDDILRYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIVGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPFHLLGIRETWDDRWINDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGAALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 1023 }, "evidence": [ { "id": "45916514", "url": "http://www.informatics.jax.org/homology/45916514", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P13607-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha", "gene_name": "Atpalpha", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MALRSDYEHGRADSYRVATVIATDDDNRTADGQYKSRRKMPAKVNKKENLDDLKQELDIDFHKISPEELYQRFQTHPENGLSHAKAKENLERDGPNALTPPKQTPEWVKFCKNLFGGFAMLLWIGAILCFVAYSIQASTSEEPADDNLYLGIVLSAVVIVTGIFSYYQESKSSKIMESFKNMVPQFATVIREGEKLTLRAEDLVLGDVVEVKFGDRIPADIRIIEARNFKVDNSSLTGESEPQSRGAEFTHENPLETKNLAFFSTNAVEGTAKGVVISCGDHTVMGRIAGLASGLDTGETPIAKEIHHFIHLITGVAVFLGVTFFVIAFILGYHWLDAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMASKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIIEADTTEDQSGVQYDRTSPGFKALSRIATLCNRAEFKGGQDGVPILKKEVSGDASEAALLKCMELALGDVMNIRKRNKKIAEVPFNSTNKYQVSIHETEDTNDPRYLLVMKGAPERILERCSTIFINGKEKVLDEEMKEAFNNAYMELGGLGERVLGFCDFMLPSDKYPNGFKFNTDDINFPIDNLRFVGLMSMIDPPRAAVPDAVAKCRSAGIKVIMVTGDHPITAKAIAKSVGIISEGNETVEDIAQRLNIPVSEVNPREAKAAVVHGAELRDVSSDQLDEILRYHTEIVFARTSPQQKLIIVEGCQRMGAIVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEISPFLAFILCDIPLPLGTVTILCIDLGTDMVPAISLAYEHAEADIMKRPPRDPFNDKLVNSRLISMAYGQIGMIQAAAGFFVYFVIMAENGFLPKKLFGIRKMWDSKAVNDLTDSYGQEWTYRDRKTLEYTCHTAFFISIVVVQWADLIICKTRRNSIFQQGMRNWALNFGLVFETVLAAFLSYCPGMEKGLRMYPLKLVWWFPAIPFALAIFIYDETRRFYLRRNPGGWLEQETYY", "length": 1041 }, "evidence": [ { "id": "P05023", "url": "https://omabrowser.org/oma/group/P05023/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8VDN2-1", "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-1", "gene_name": "Atp1a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGKGVGRDKYEPAAVSEHGDKKGKKAKKERDMDELKKEVSMDDHKLSLDELHRKYGTDLSRGLTPARAAEILARDGPNALTPPPTTPEWVKFCRQLFGGFSMLLWIGAILCFLAYGIRSATEEEPPNDDLYLGVVLSAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIRNGEKMSINAEDVVVGDLVEVKGGDRIPADLRIISANGCKVDNSSLTGESEPQTRSPDFTNENPLETRNIAFFSTNCVEGTARGIVVYTGDRTVMGRIATLASGLEGGQTPIAEEIEHFIHLITGVAVFLGVSFFILSLILEYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTENQSGVSFDKTSATWFALSRIAGLCNRAVFQANQENLPILKRAVAGDASESALLKCIEVCCGSVMEMREKYSKIVEIPFNSTNKYQLSIHKNPNASEPKHLLVMKGAPERILDRCSSILLHGKEQPLDEELKDAFQNAYLELGGLGERVLGFCHLLLPDEQFPEGFQFDTDDVNFPVDNLCFVGLISMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVNQVNPRDAKACVVHGSDLKDMTSEELDDILRYHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGVAMGIVGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLIFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEQAESDIMKRQPRNPKTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPFHLLGIRETWDDRWVNDVEDSYGQQWTYEQRKIVEFTCHTAFFVSIVVVQWADLVICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMGAALRMYPLKPTWWFCAFPYSLLIFVYDEVRKLIIRRRPGGWVEKETYY", "length": 1023 }, "evidence": [ { "id": "45916514", "url": "http://www.informatics.jax.org/homology/45916514", "database": "MGI" }, { "id": "P05023", "url": "https://omabrowser.org/oma/group/P05023/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 20, "go_terms": [ { "name": "photoreceptor inner segment membrane", "id": "GO:0060342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060342", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "sodium:potassium-exchanging ATPase complex", "id": "GO:0005890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "potassium ion binding", "id": "GO:0030955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030955", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "P-type sodium:potassium-exchanging transporter activity", "id": "GO:0005391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005391", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "steroid hormone binding", "id": "GO:1990239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990239", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "sodium ion binding", "id": "GO:0031402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 21, "go_terms": [ { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "membrane repolarization during cardiac muscle cell action potential", "id": "GO:0086013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086013", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "cellular response to steroid hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "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": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "intracellular potassium ion homeostasis", "id": "GO:0030007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030007", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "negative regulation of heart contraction", "id": "GO:0045822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045822", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "relaxation of cardiac muscle", "id": "GO:0055119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055119", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "membrane repolarization", "id": "GO:0086009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086009", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "cell communication by electrical coupling involved in cardiac conduction", "id": "GO:0086064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086064", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "response to glycoside", "id": "GO:1903416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903416", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "negative regulation of glucocorticoid biosynthetic process", "id": "GO:0031947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031947", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "positive regulation of heart contraction", "id": "GO:0045823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045823", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "positive regulation of striated muscle contraction", "id": "GO:0045989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045989", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "cardiac muscle cell action potential involved in contraction", "id": "GO:0086002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086002", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "P05023", "url": "https://www.uniprot.org/uniprot/P05023" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 215, "end_pos": 217, "annotation": "n_glycosylation_sequon" }, { "start_pos": 405, "end_pos": 407, "annotation": "n_glycosylation_sequon" }, { "start_pos": 483, "end_pos": 485, "annotation": "n_glycosylation_sequon" }, { "start_pos": 497, "end_pos": 499, "annotation": "n_glycosylation_sequon" }, { "start_pos": 638, "end_pos": 640, "annotation": "n_glycosylation_sequon" }, { "start_pos": 720, "end_pos": 722, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "18353", "name": "", "equation": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P06686-1", "P06687-1", "P06685-1", "Q64541-1", "P54708-1", "P50993-1", "P05023-1", "P13637-1", "Q13733-1", "P54707-1", "Q6PIE5-1", "Q8VDN2-1", "Q6PIC6-1", "Q9WV27-1", "Q9Z1W8-1", "P13607-1" ], "evidence": [ { "id": "18353", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/18353" } ] }, { "id": "R-HSA-936897", "name": "ATP1A:ATP1B:FXYD exchanges 3Na+ for 2K+", "equation": "", "summary": "The sodium/potassium-transporting ATPase (ATP1A:ATP1B:FXYD) is composed of three subunits - alpha (catalytic part), beta and gamma. The trimer catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane, creating the electrochemical gradient which provides energy for the active transport of various nutrients.
Four human genes encode the catalytic alpha subunits, ATP1A1-4 (Kawakami et al, 1986; Shull et al, 1989; Ovchinnikov et al, 1988; Keryanov and Gardner, 2002). Defects in ATP1A2 cause alternating hemiplegia of childhood (AHC) (Swoboda et al, 2004). Another defect in ATP1A2 causes familial hemiplegic migraine type 2 (FHM2) (Vanmolkot et al, 2003). Defects in ATP1A3 are the cause of dystonia type 12 (DYT12) (de Carvalho Aguiar et al, 2004).

Three human genes encode the non-catalytic beta subunits, ATP1B1-3. The beta subunits are thought to mediate the number of sodium pumps transported to the plasma membrane (Lane et al, 1989; Ruiz et al, 1996; Malik et al, 1996). FXYD proteins belong to a family of small membrane proteins that are auxiliary gamma subunits of Na-K-ATPase. At least six members of this family, FYD1-4, 6 and 7, have been shown to regulate Na-K-ATPase activity (Geering 2006, Choudhury et al. 2007). Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2) (Meij et al, 2000). ATP1A1-4 and ATP1B1-4 play a minor role during phase 2, since they begin to restore ion concentrations. The high concentration of intracellular calcium starts contraction of those cells, which is sustained in the plateau phase.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13637-1", "P50993-1", "Q13733-1", "P05023-1" ], "evidence": [ { "id": "R-HSA-936897", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-936897" } ] }, { "id": "R-HSA-9684068", "name": "ATP1A:ATP1B:FXYD binds cardiac glycosides", "equation": "", "summary": "Cardiac glycosides are a class of organic compounds that increase the output force of the heart and increase its rate of contractions by inhibition of the cellular sodium-potassium ATPase pump (ATP1A1). Their beneficial medical uses are as treatments for congestive heart failure and cardiac arrhythmias. Cardiac glycosides are primarily derived from foxglove plants or from the venom of the cane toad Bufo marinus. Their toxicity prevents them from being widely used. Changes to heart inotropic and chronotropic activity results in multiple kinds of dysrhythmia and potentially fatal ventricular tachycardia. Different cardiac glycosides show different specificities towards sodium-potassium ATPase pump alpha isoforms (Hauck et al. 2009, Katz et al. 2010, Cherniavsky et al. 2015).

HIV-1 Tat is essential for HIV-1 replication. Tat must escape from the cell in order for it to activate the HIV-1 LTR promoter and facilitate HIV-1 viral replication. Tat utilises the cellular ATP1A1 pump for secretion out of cells. The cardiac glycosides ouabain, digoxin, digitoxin, acetyldigitoxin and deslanoside can all inhibit ATP1A1 (Smith 1984), impairing extracellular Tat release and blocking HIV-1 replication (Agostini et al. 2017).", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P13637-1", "P50993-1", "Q13733-1", "P05023-1" ], "evidence": [ { "id": "R-HSA-9684068", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9684068" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P05023", "gene_name": "ATP1A1", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P05023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05023" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P05023", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05023" } ] } ] }, { "uniprot_ac": "P06685", "gene_name": "Atp1a1", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P06685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06685" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P06685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06685" } ] } ] }, { "uniprot_ac": "P06686", "gene_name": "Atp1a2", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P06686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06686" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P06686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06686" } ] } ] }, { "uniprot_ac": "P06687", "gene_name": "Atp1a3", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P06687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06687" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P06687", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06687" } ] } ] }, { "uniprot_ac": "P13607", "gene_name": "Atpalpha", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P13607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13607" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P13607", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13607" } ] } ] }, { "uniprot_ac": "P13637", "gene_name": "ATP1A3", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P13637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13637" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P13637", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13637" } ] } ] }, { "uniprot_ac": "P50993", "gene_name": "ATP1A2", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P50993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50993" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "P50993", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50993" } ] } ] }, { "uniprot_ac": "P54707", "gene_name": "ATP12A", "activity": [ { "ec_number": "7.2.2.19", "activity": "ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate.", "evidence": [ { "id": "P54707", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54707" } ] }, { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P54707", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54707" } ] } ] }, { "uniprot_ac": "P54708", "gene_name": "Atp12a", "activity": [ { "ec_number": "7.2.2.19", "activity": "ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate.", "evidence": [ { "id": "P54708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54708" } ] }, { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "P54708", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54708" } ] } ] }, { "uniprot_ac": "Q13733", "gene_name": "ATP1A4", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q13733", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13733" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q13733", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13733" } ] } ] }, { "uniprot_ac": "Q64541", "gene_name": "Atp1a4", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q64541", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64541" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q64541", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q64541" } ] } ] }, { "uniprot_ac": "Q6PIC6", "gene_name": "Atp1a3", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q6PIC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PIC6" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q6PIC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PIC6" } ] } ] }, { "uniprot_ac": "Q6PIE5", "gene_name": "Atp1a2", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q6PIE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PIE5" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q6PIE5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PIE5" } ] } ] }, { "uniprot_ac": "Q8VDN2", "gene_name": "Atp1a1", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q8VDN2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDN2" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q8VDN2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VDN2" } ] } ] }, { "uniprot_ac": "Q9WV27", "gene_name": "Atp1a4", "activity": [ { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q9WV27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WV27" } ] }, { "ec_number": "7.2.2.13", "activity": "", "evidence": [ { "id": "Q9WV27", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9WV27" } ] } ] }, { "uniprot_ac": "Q9Z1W8", "gene_name": "Atp12a", "activity": [ { "ec_number": "7.2.2.19", "activity": "ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate.", "evidence": [ { "id": "Q9Z1W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1W8" } ] }, { "ec_number": "7.2.2.13", "activity": "ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate.", "evidence": [ { "id": "Q9Z1W8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z1W8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 65 ], "snv_sites": [ 65, 230, 235, 431 ], "glycation_sites": [], "phosphorylation_sites": [ 10, 16, 40, 47, 222, 226, 228, 260, 310, 452, 484, 542, 617, 668, 675, 722, 742, 943 ], "sequon_annotation_sites": [ { "start_pos": 215, "end_pos": 217 }, { "start_pos": 405, "end_pos": 407 }, { "start_pos": 483, "end_pos": 485 }, { "start_pos": 497, "end_pos": 499 }, { "start_pos": 638, "end_pos": 640 }, { "start_pos": 720, "end_pos": 722 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 126 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }