{ "uniprot_canonical_ac": "O00168-1", "uniprot_ac": "O00168", "uniprot_id": "PLM_HUMAN", "mass": { "chemical_mass": 10441.0, "monoisotopic_mass": 10441.0 }, "refseq": { "ac": "NP_001265646", "name": "phospholemman precursor", "summary": "This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, "gene_names": [ { "name": "FXYD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00168", "id": "O00168" }, { "name": "FXYD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646", "id": "NP_001265646" }, { "name": "PLM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646", "id": "NP_001265646" }, { "name": "PLM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00168", "id": "O00168" } ], "protein_names": [ { "name": "Phospholemman", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00168" }, { "name": "FXYD domain-containing ion transport regulator 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00168" }, { "name": "Sodium/potassium-transporting ATPase subunit FXYD1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00168" }, { "name": "phospholemman precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646", "id": "NP_001265646" }, { "name": "phospholemman; sodium/potassium-transporting ATPase subunit FXYD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646", "id": "NP_001265646" } ], "function": [ { "annotation": "A period of high-intensity training with reduced training volume increases expression and phosphorylation levels of FXYD1, which may affect Na(+)/K(+) pump activity and muscle K(+) homeostasis during intense exercise.", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, { "database": "PubMed", "id": "26791827", "url": "https://glygen.org/publication/PubMed/26791827" } ] }, { "annotation": "Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone.", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168#function" }, { "database": "UniProtKB", "id": "P56513", "url": "https://www.uniprot.org/uniprot/P56513#function" }, { "database": "UniProtKB", "id": "Q9Z239", "url": "https://www.uniprot.org/uniprot/Q9Z239#function" }, { "database": "UniProtKB", "id": "O08589", "url": "https://www.uniprot.org/uniprot/O08589#function" } ] }, { "annotation": "Blood flow restriction augmented exercise-induced increases in muscle FXYD1 and PGC-1alpha mRNA in men", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, { "database": "PubMed", "id": "29383885", "url": "https://glygen.org/publication/PubMed/29383885" } ] }, { "annotation": "Expression mode and prognostic value of FXYD family members in colon cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, { "database": "PubMed", "id": "34270462", "url": "https://glygen.org/publication/PubMed/34270462" } ] }, { "annotation": "FXYD protein isoforms differentially modulate human Na/K pump function.", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, { "database": "PubMed", "id": "33231612", "url": "https://glygen.org/publication/PubMed/33231612" } ] }, { "annotation": "Stopped-flow experiments using the dye RH421 show that FXYD1 slows the conformational transition E2(2K)ATP --> E1(3Na)ATP but does not affect 3NaE1P --> E2P3Na.", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" }, { "database": "PubMed", "id": "26429909", "url": "https://glygen.org/publication/PubMed/26429909" } ] }, { "annotation": "This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 60, "end_pos": 60, "sequence_org": "C", "sequence_mut": "S", "comment": "Significantly reduced half-life; when associated with S-62.", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "PubMed", "id": "21868384", "url": "https://glygen.org/publication/PubMed/21868384" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "C", "sequence_mut": "S", "comment": "Significantly reduced half-life; when associated with S-60.", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "PubMed", "id": "21868384", "url": "https://glygen.org/publication/PubMed/21868384" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "O00168", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00168" } ], "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": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "common_name": "Human" } ], "gene": [ { "name": "FXYD1", "url": "https://www.uniprot.org/uniprot/O00168", "locus": { "chromosome": "19", "start_pos": 35143109, "end_pos": 35138824, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000266964", "url": "https://www.ensembl.org/id/ENSG00000266964" } ] } } ], "crossref": [ { "id": "ENSG00000266964", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000266964", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20317", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20317", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FXYD1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FXYD1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5348", "url": "https://www.ncbi.nlm.nih.gov/gene/5348", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4025", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4025", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00168", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00168*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000272", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000272", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047281", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047281", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047297", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047297", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5348", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5348", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602359", "url": "http://www.omim.org/entry/602359", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00168", "url": "https://www.nextprot.org/entry/NX_O00168", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FTMANAE", "url": "https://omabrowser.org/oma/group/FTMANAE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4642382at2759", "url": "http://www.orthodb.org/?query=4642382at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14132", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14132", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14132:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14132:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2JO1", "url": "https://www.rcsb.org/structure/2JO1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02038", "url": "http://pfam.xfam.org/family/PF02038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00168", "url": "https://pharos.nih.gov/targets/O00168", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00168", "url": "http://purl.obolibrary.org/obo/PR_O00168", "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_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "K7EQG4", "url": "https://www.uniprot.org/uniprot/K7EQG4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EQG4-1", "url": "https://www.uniprot.org/uniprot/K7EQG4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00168-1", "url": "https://www.uniprot.org/uniprot/O00168-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR", "length": 92, "header": "sp|O00168-1|PLM_HUMAN Isoform 1 of Phospholemman OS=Homo sapiens OX=9606 GN=FXYD1 PE=1 SV=2 CANONICAL=O00168-1" }, "isoforms": [ { "isoform_ac": "K7EQG4-1", "url": "", "sequence": { "sequence": "XFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLTPPLARASWSYSAAWRPPGGSLSFSYLSTPTGRRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR", "length": 115, "header": "tr|K7EQG4-1|PLM_HUMAN Computationally mapped isoform of Phospholemman OS=Homo sapiens OX=9606 GN=FXYD1 PE=1 SV=2 CANONICAL=O00168-1" }, "locus": { "chromosome": "19", "start_pos": 35142740, "end_pos": 35140105, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589121.1", "url": "https://www.ensembl.org/id/ENST00000589121.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000467818.2", "url": "https://www.ensembl.org/id/ENSP00000467818.2" } ] } }, { "isoform_ac": "O00168-1", "url": "", "sequence": { "sequence": "MASLGHILVFCVGLLTMAKAESPKEHDPFTYDYQSLQIGGLVIAGILFILGILIVLSRRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR", "length": 92, "header": "sp|O00168-1|PLM_HUMAN Isoform 1 of Phospholemman OS=Homo sapiens OX=9606 GN=FXYD1 PE=1 SV=2 CANONICAL=O00168-1" }, "locus": { "chromosome": "19", "start_pos": 35142739, "end_pos": 35140080, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588607.5", "url": "https://www.ensembl.org/id/ENST00000588607.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468535.1", "url": "https://www.ensembl.org/id/ENSP00000468535.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 79, "end_pos": 79, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Thr79" }, { "start_pos": 82, "end_pos": 82, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "32063830", "url": "https://glygen.org/publication/PubMed/32063830" } ], "site_lbl": "Ser82" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "21220422", "url": "https://glygen.org/publication/PubMed/21220422" } ], "site_lbl": "Ser83" }, { "start_pos": 83, "end_pos": 83, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA and PKC", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "7999001", "url": "https://glygen.org/publication/PubMed/7999001" }, { "database": "phospho.ELM", "id": "O00168", "url": "http://phospho.elm.eu.org/byAccession/O00168.html" }, { "database": "PubMed", "id": "16155364", "url": "https://glygen.org/publication/PubMed/16155364" }, { "database": "PubMed", "id": "10556585", "url": "https://glygen.org/publication/PubMed/10556585" } ], "site_lbl": "Ser83" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "21220422", "url": "https://glygen.org/publication/PubMed/21220422" } ], "site_lbl": "Ser88" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKA", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" }, { "database": "PubMed", "id": "7999001", "url": "https://glygen.org/publication/PubMed/7999001" }, { "database": "phospho.ELM", "id": "O00168", "url": "http://phospho.elm.eu.org/byAccession/O00168.html" }, { "database": "PubMed", "id": "15621037", "url": "https://glygen.org/publication/PubMed/15621037" }, { "database": "PubMed", "id": "21868384", "url": "https://glygen.org/publication/PubMed/21868384" } ], "site_lbl": "Ser88" }, { "start_pos": 89, "end_pos": 89, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PKC", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "site_lbl": "Thr89" } ], "glycation": [], "keywords": [], "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": "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": "Modulation of Xenopus oocyte-expressed phospholemman-induced ion currents by co-expression of protein kinases.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Mounsey JP, Lu KP, Patel MK, Chen ZH, Horne LT, John JE 3rd, Means AR, Jones LR, Moorman JR", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "10556585", "url": "https://glygen.org/publication/PubMed/10556585" } ] }, { "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": "Phospholemman is a substrate for myotonic dystrophy protein kinase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Mounsey JP, John JE 3rd, Helmke SM, Bush EW, Gilbert J, Roses AD, Perryman MB, Jones LR, Moorman JR", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "reference": [ { "type": "PubMed", "id": "10811636", "url": "https://glygen.org/publication/PubMed/10811636" } ] }, { "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": "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression.", "journal": "Genomics", "date": "2000", "authors": "Sweadner KJ, Rael E", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "reference": [ { "type": "PubMed", "id": "10950925", "url": "https://glygen.org/publication/PubMed/10950925" } ] }, { "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": "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": "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": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "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": "Serine 68 phospholemman phosphorylation during forskolin-induced swine carotid artery relaxation.", "journal": "Journal of vascular research", "date": "2005", "authors": "Rembold CM, Ripley ML, Meeks MK, Geddis LM, Kutchai HC, Marassi FM, Cheung JY, Moorman JR", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "16155364", "url": "https://glygen.org/publication/PubMed/16155364" } ] }, { "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": "Secondary structure, orientation, and oligomerization of phospholemman, a cardiac transmembrane protein.", "journal": "Protein Sci.", "date": "2006", "authors": "Beevers Andrew J, Kukol Andreas", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "reference": [ { "type": "PubMed", "id": "16597826", "url": "https://glygen.org/publication/PubMed/16597826" } ] }, { "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": "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": "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": "Structure of the Na,K-ATPase regulatory protein FXYD1 in micelles.", "journal": "Biochemistry", "date": "2007", "authors": "Teriete Peter, Franzin Carla M, Choi Jungyuen, Marassi Francesca M", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "reference": [ { "type": "PubMed", "id": "17511473", "url": "https://glygen.org/publication/PubMed/17511473" } ] }, { "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": "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": "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": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "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": "Phosphomimetic mutations enhance oligomerization of phospholemman and modulate its interaction with the Na/K-ATPase.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Song Q, Pallikkuth S, Bossuyt J, Bers DM, Robia SL", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "21220422", "url": "https://glygen.org/publication/PubMed/21220422" } ] }, { "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": "The inhibitory effect of phospholemman on the sodium pump requires its palmitoylation.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Tulloch LB, Howie J, Wypijewski KJ, Wilson CR, Bernard WG, Shattock MJ, Fuller W", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "21868384", "url": "https://glygen.org/publication/PubMed/21868384" } ] }, { "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": "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": "Journal of biochemistry", "date": "1986", "authors": "Kawakami K, Ohta T, Nojima H, Nagano K", "evidence": [ { "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": "Molecular Mechanisms and Kinetic Effects of FXYD1 and Phosphomimetic Mutants on Purified Human Na,K-ATPase.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Mishra NK, Habeck M, Kirchner C, Haviv H, Peleg Y, Eisenstein M, Apell HJ, Karlish SJ", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ], "reference": [ { "type": "PubMed", "id": "26429909", "url": "https://glygen.org/publication/PubMed/26429909" } ] }, { "title": "Intensive training and reduced volume increases muscle FXYD1 expression and phosphorylation at rest and during exercise in athletes.", "journal": "American journal of physiology. Regulatory, integrative and comparative physiology", "date": "2016", "authors": "Thomassen M, Gunnarsson TP, Christensen PM, Pavlovic D, Shattock MJ, Bangsbo J", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ], "reference": [ { "type": "PubMed", "id": "26791827", "url": "https://glygen.org/publication/PubMed/26791827" } ] }, { "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": "Increased FXYD1 and PGC-1alpha mRNA after blood flow-restricted running is related to fibre type-specific AMPK signalling and oxidative stress in human muscle.", "journal": "Acta physiologica (Oxford, England)", "date": "2018", "authors": "Christiansen D, Murphy RM, Bangsbo J, Stathis CG, Bishop DJ", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ], "reference": [ { "type": "PubMed", "id": "29383885", "url": "https://glygen.org/publication/PubMed/29383885" } ] }, { "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": "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": "Insulin-Like Growth Factor-1 Down-Regulates the Phosphorylation of FXYD1 and Rescues Behavioral Deficits in a Mouse Model of Rett Syndrome.", "journal": "Frontiers in neuroscience", "date": "2020", "authors": "Yuan Zhe-Feng, Mao Shan-Shan, Shen Jue, Jiang Li-Hua, Xu Lu, Xu Jia-Lu, Gao Feng", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "32063830", "url": "https://glygen.org/publication/PubMed/32063830" } ] }, { "title": "FXYD protein isoforms differentially modulate human Na/K pump function.", "journal": "The Journal of general physiology", "date": "2020", "authors": "Meyer DJ, Bijlani S, de Sautu M, Spontarelli K, Young VC, Gatto C, Artigas P", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ], "reference": [ { "type": "PubMed", "id": "33231612", "url": "https://glygen.org/publication/PubMed/33231612" } ] }, { "title": "Expression mode and prognostic value of FXYD family members in colon cancer.", "journal": "Aging", "date": "2021", "authors": "Jin M, Zhang H, Yang J, Zheng Z, Liu K", "evidence": [ { "database": "RefSeq", "id": "NP_001265646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265646" } ], "reference": [ { "type": "PubMed", "id": "34270462", "url": "https://glygen.org/publication/PubMed/34270462" } ] }, { "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": "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": "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": "Protein kinase C and cyclic AMP-dependent protein kinase phosphorylate phospholemman, an insulin and adrenaline-regulated membrane phosphoprotein, at specific sites in the carboxy terminal domain.", "journal": "The Biochemical journal", "date": "1994", "authors": "Walaas SI, Czernik AJ, Olstad OK, Sletten K, Walaas O", "evidence": [ { "database": "iPTMnet", "id": "O00168", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00168" } ], "reference": [ { "type": "PubMed", "id": "7999001", "url": "https://glygen.org/publication/PubMed/7999001" } ] }, { "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": "Characterization of the human and rat phospholemman (PLM) cDNAs and localization of the human PLM gene to chromosome 19q13.1.", "journal": "Genomics", "date": "1997", "authors": "Chen LS, Lo CF, Numann R, Cuddy M", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "reference": [ { "type": "PubMed", "id": "9169143", "url": "https://glygen.org/publication/PubMed/9169143" } ] }, { "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:5348", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5348", "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": "O08589-1", "protein_name": "Phospholemman", "gene_name": "Fxyd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASPGHILIVCVCLLSMASAEAPQEPDPFTYDYHTLRIGGLTIAGILFILGILIILSKRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSTRRR", "length": 92 }, "evidence": [ { "id": "45933852", "url": "http://www.informatics.jax.org/homology/45933852", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z239-1", "protein_name": "Phospholemman", "gene_name": "Fxyd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASPGHILALCVCLLSMASAEAPQEPDPFTYDYHTLRIGGLTIAGILFILGILIILSKRCRCKFNQQQRTGEPDEEEGTFRSSIRRLSSRRR", "length": 92 }, "evidence": [ { "id": "45933852", "url": "http://www.informatics.jax.org/homology/45933852", "database": "MGI" }, { "id": "O00168", "url": "https://omabrowser.org/oma/group/O00168/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "sodium:potassium-exchanging ATPase complex", "id": "GO:0005890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005890", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "regulation of monoatomic ion transport", "id": "GO:0043269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043269", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "regulation of sodium ion transmembrane transporter activity", "id": "GO:2000649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000649", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "positive regulation of sodium ion export across plasma membrane", "id": "GO:1903278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903278", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "negative regulation of protein glutathionylation", "id": "GO:0010734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010734", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell membrane potential", "id": "GO:0086036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086036", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "ion channel regulator activity", "id": "GO:0099106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099106", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Major plasma membrane substrate for cAMP-dependent protein kinase (PKA) and protein kinase C (PKC) in several different tissues (By similarity). Phosphorylated in response to insulin and adrenergic stimulation (By similarity). Phosphorylation at Ser-88 stimulates sodium/potassium-transporting ATPase activity while the unphosphorylated form inhibits sodium/potassium-transporting ATPase activity (By similarity). Phosphorylation increases tetramerization, decreases binding to ATP1A1 and reduces inhibition of ATP1A1 activity (By similarity). Phosphorylation at Ser-83 leads to greatly reduced interaction with ATP1A1, ATP1A2 and ATP1A3 (By similarity). May be phosphorylated by DMPK (PubMed:10811636).", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "PubMed", "id": "10811636", "url": "https://glygen.org/publication/PubMed/10811636" } ] }, { "annotation": "Palmitoylation increases half-life and stability and is enhanced upon phosphorylation at Ser-88 by PKA.", "evidence": [ { "database": "UniProtKB", "id": "O00168", "url": "https://www.uniprot.org/uniprot/O00168" }, { "database": "PubMed", "id": "21868384", "url": "https://glygen.org/publication/PubMed/21868384" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "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": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 79, 82, 83, 88, 89 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "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", "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": 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_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": 7 }, { "field": "total_sites", "count": 5 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 103 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }