{ "uniprot_canonical_ac": "Q9HC58-1", "uniprot_ac": "Q9HC58", "uniprot_id": "NCKX3_HUMAN", "mass": { "chemical_mass": 71992.0, "monoisotopic_mass": 71992.0 }, "refseq": { "ac": "NP_065740", "name": "sodium/potassium/calcium exchanger 3 precursor", "summary": "Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" }, "gene_names": [ { "name": "SLC24A3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9HC58", "id": "Q9HC58" }, { "name": "NCKX3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740", "id": "NP_065740" }, { "name": "NCKX3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9HC58", "id": "Q9HC58" }, { "name": "SLC24A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740", "id": "NP_065740" } ], "protein_names": [ { "name": "Sodium/potassium/calcium exchanger 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9HC58" }, { "name": "Na(+)/K(+)/Ca(2+)-exchange protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9HC58" }, { "name": "Solute carrier family 24 member 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9HC58" }, { "name": "sodium/potassium/calcium exchanger 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740", "id": "NP_065740" }, { "name": "sodium/potassium/calcium exchanger 3; sodium calcium exchanger; Na(+)/K(+)/Ca(2+)-exchange protein 3; solute carrier family 24 (sodium/potassium/calcium exchanger), member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740", "id": "NP_065740" } ], "function": [ { "annotation": "Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58#function" }, { "database": "PubMed", "id": "26631410", "url": "https://glygen.org/publication/PubMed/26631410" }, { "database": "PubMed", "id": "11294880", "url": "https://glygen.org/publication/PubMed/11294880" } ] }, { "annotation": "NCKX3 is abundantly expressed within the human endometrium at the transcriptional and translational levels, and its level is regulated by steroid hormones (particularly estradiol) during the human menstrual cycle.", "evidence": [ { "database": "RefSeq", "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" }, { "database": "PubMed", "id": "21321244", "url": "https://glygen.org/publication/PubMed/21321244" } ] }, { "annotation": "Plasma membrane ion transporter.Displayed K(+)-dependent Na(+)/Ca(2+) exchanger activity when assayed in heterologous expression systems, using digital imaging of fura-2 fluorescence, electrophysiology, or radioactive (45)Ca(2+) uptake. Erratum:[J Biol Chem. 2006 Mar 31;281(13):8996]", "evidence": [ { "database": "RefSeq", "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" }, { "database": "PubMed", "id": "11294880", "url": "https://glygen.org/publication/PubMed/11294880" } ] }, { "annotation": "Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9HC58", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9HC58" } ], "glycoeffect": [], "start_pos": 109, "end_pos": 109, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "19515542", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A109", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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. 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs751918306", "database": "dbSNP", "url": 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"D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DDS->NDS).", "chr_id": "20", "chr_pos": "19681946", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D286", "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": "" }, 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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"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": 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"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", 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"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", 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"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": 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{ "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 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"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": "Q9HC58", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9HC58" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"http://www.omim.org/entry/609839", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9HC58", "url": "https://www.nextprot.org/entry/NX_Q9HC58", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "DSVIMVC", "url": "https://omabrowser.org/oma/group/DSVIMVC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "22570at2759", "url": "http://www.orthodb.org/?query=22570at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10846", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10846:SF42", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846:SF42", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01699", "url": "http://pfam.xfam.org/family/PF01699", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9HC58", "url": "https://pharos.nih.gov/targets/Q9HC58", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9HC58", "url": "http://purl.obolibrary.org/obo/PR_Q9HC58", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "69967", "url": "https://www.rhea-db.org/rhea/69967", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9HC58-1", "url": "https://www.uniprot.org/uniprot/Q9HC58-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGEDRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPALHEFPNDIFTNEDRRQGAVVLHVLCAIYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWESLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKKANFHRKASVIMVDELLSAYPHQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLINSRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRRDDVVAEAGNETENENEDNENDEEEEEDEDDDEGPYTPFDTPSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPMCGDH", "length": 644, "header": "sp|Q9HC58-1|NCKX3_HUMAN Isoform 1 of Sodium/potassium/calcium exchanger 3 OS=Homo sapiens OX=9606 GN=SLC24A3 PE=2 SV=4 CANONICAL=Q9HC58-1" }, "isoforms": [ { "isoform_ac": "Q9HC58-1", "url": "", "sequence": { "sequence": "MRPSGDEDRARRRRRRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLVGEDRKWMMARKLMQVNDTLTSEDAGLRNSKNCTEPALHEFPNDIFTNEDRRQGAVVLHVLCAIYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVIALIVFIYDEKVSWWESLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKKANFHRKASVIMVDELLSAYPHQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLINSRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRRDDVVAEAGNETENENEDNENDEEEEEDEDDDEGPYTPFDTPSGKLETVKWAFTWPLSFVLYFTVPNCNKPRWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLLLYGVFLCFSIMTEFNVFTFVNLPMCGDH", "length": 644, "header": "sp|Q9HC58-1|NCKX3_HUMAN Isoform 1 of Sodium/potassium/calcium exchanger 3 OS=Homo sapiens OX=9606 GN=SLC24A3 PE=2 SV=4 CANONICAL=Q9HC58-1" }, "locus": { "chromosome": "20", "start_pos": 19721137, "end_pos": 19212843, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000328041.11", "url": "https://www.ensembl.org/id/ENST00000328041.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000333519.5", "url": "https://www.ensembl.org/id/ENSP00000333519.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "Q9HC58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HC58#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 86, "start_aa": "Asn", "end_pos": 86, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn86", "evidence": [ { "id": "Q9HC58", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HC58#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 308, "end_pos": 308, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "site_lbl": "Ser308" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Molecular cloning and functional expression of the potassium-dependent sodium-calcium exchanger from human and chicken retinal cone photoreceptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2000", "authors": "Prinsen CF, Szerencsei RT, Schnetkamp PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "10662833", "url": "https://glygen.org/publication/PubMed/10662833" } ] }, { "title": "Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Kraev A, Quednau BD, Leach S, Li XF, Dong H, Winkfein R, Perizzolo M, Cai X, Yang R, Philipson KD, Lytton J", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" }, { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" }, { "database": "RefSeq", "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" } ], "reference": [ { "type": "PubMed", "id": "11294880", "url": "https://glygen.org/publication/PubMed/11294880" } ] }, { "title": "Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Li XF, Kraev AS, Lytton J", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "12379639", "url": "https://glygen.org/publication/PubMed/12379639" } ] }, { "title": "Molecular cloning of a sixth member of the K+-dependent Na+/Ca2+ exchanger gene family, NCKX6.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Cai X, Lytton J", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "14625281", "url": "https://glygen.org/publication/PubMed/14625281" } ] }, { "title": "Lithium-calcium exchange is mediated by a distinct potassium-independent sodium-calcium exchanger.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Palty R, Ohana E, Hershfinkel M, Volokita M, Elgazar V, Beharier O, Silverman WF, Argaman M, Sekler I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "15060069", "url": "https://glygen.org/publication/PubMed/15060069" } ] }, { "title": "SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Lamason RL, Mohideen MA, Mest JR, Wong AC, Norton HL, Aros MC, Jurynec MJ, Mao X, Humphreville VR, Humbert JE, Sinha S, Moore JL, Jagadeeswaran P, Zhao W, Ning G, Makalowska I, McKeigue PM, O'donnell D, Kittles R, Parra EJ, Mangini NJ, Grunwald DJ, Shriver MD, Canfield VA, Cheng KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "16357253", "url": "https://glygen.org/publication/PubMed/16357253" } ] }, { "title": "SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Ginger RS, Askew SE, Ogborne RM, Wilson S, Ferdinando D, Dadd T, Smith AM, Kazi S, Szerencsei RT, Winkfein RJ, Schnetkamp PP, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "18166528", "url": "https://glygen.org/publication/PubMed/18166528" } ] }, { "title": "Distinct expression of the calcium exchangers, NCKX3 and NCX1, and their regulation by steroid in the human endometrium during the menstrual cycle.", "journal": "Reproductive sciences (Thousand Oaks, Calif.)", "date": "2011", "authors": "Yang H, Kim TH, Lee HH, Choi KC, Jeung EB", "evidence": [ { "database": "RefSeq", "id": "NP_065740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065740" } ], "reference": [ { "type": "PubMed", "id": "21321244", "url": "https://glygen.org/publication/PubMed/21321244" } ] }, { "title": "Cation dependencies and turnover rates of the human K(+)-dependent Na(+)-Ca(2+) exchangers NCKX1, NCKX2, NCKX3 and NCKX4.", "journal": "Cell Calcium", "date": "2016", "authors": "Schnetkamp P.P., Szerencsei R.T., Jalloul A.H.", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "reference": [ { "type": "PubMed", "id": "26631410", "url": "https://glygen.org/publication/PubMed/26631410" } ] }, { "title": "Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger.", "journal": "Human genetics", "date": "1998", "authors": "Tucker JE, Winkfein RJ, Murthy SK, Friedman JS, Walter MA, Demetrick DJ, Schnetkamp PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "reference": [ { "type": "PubMed", "id": "9856482", "url": "https://glygen.org/publication/PubMed/9856482" } ] } ], "pathway": [ { "id": "hsa:57419", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57419", "resource": "KEGG Pathway" }, { "id": "R-HSA-425561", "name": "Sodium/Calcium exchangers", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561", "resource": "Reactome", "description": "Sodium/Calcium exchangers" } ], "orthologs": [ { "uniprot_canonical_ac": "Q99PD7-1", "protein_name": "Sodium/potassium/calcium exchanger 3", "gene_name": "Slc24a3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPPPGDQDCARRRSRRRRRDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLIGEDRKWMVGRKLMQVNDTLTSEDAGLQSSKNCTEPALHEFPRDIFSNEDRRQGAVVLHVLCAMYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVVALIVFIYDEKVSWWESLVLVLMYLIYIVIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKKANFHRKASVIMVDELLSAYPHQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLINSRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRRDDIVAETDNETENENEDNENNENDEEEEEDEDDDEGPYTPFDPPSGKLETVKWAFTWPLSFVLYFTVPNCNKPHWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLFLYGVFLCFSIMTEFNVFTFVNLPMCGD", "length": 645 }, "evidence": [ { "id": "45234817", "url": "http://www.informatics.jax.org/homology/45234817", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9EPQ0-1", "protein_name": "Sodium/potassium/calcium exchanger 3", "gene_name": "Slc24a3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "RDLLLSQLCFLASVALLLWSLSSLREQKELDLMDLIGEDRKWMVGRKLMQVNDTLTSEDAGLRSSKNCTEPALHEFPRDIFSNEDRRQGAVVLHVLCAMYMFYALAIVCDDFFVPSLEKICERLHLSEDVAGATFMAAGSSAPELFTSVIGVFITKGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVALSSWCLLRDSIYYTLSVVALIVFIYDEKVSWWESLVLVLMYLIYIIIMKYNACIHQCFERRTKGAGNMVNGLANNAEIDDSSNCDATVVLLKKANFHRKASVIMVDELLSAYPHQLSFSEAGLRIMITSHFPPKTRLSMASRMLINERQRLINSRAYTNGESEVAIKIPIKHTVENGTGPSSAPDRGVNGTRRDDIVAEADNETENENEDENNENDEEEDEDDDEGPYTPFDPPSGKLETVKWAFTWPLSFVLYFTVPNCNKPHWEKWFMVTFASSTLWIAAFSYMMVWMVTIIGYTLGIPDVIMGITFLAAGTSVPDCMASLIVARQGMGDMAVSNSIGSNVFDILIGLGLPWALQTLAVDYGSYIRLNSRGLIYSVGLLLASVFVTVFGVHLNKWQLDKKLGCGCLFLYGVFLCFSIMTEFNVFTFVNLPMCGD", "length": 624 }, "evidence": [ { "id": "45234817", "url": "http://www.informatics.jax.org/homology/45234817", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "symporter activity", "id": "GO:0015293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "calcium, potassium:sodium antiporter activity", "id": "GO:0008273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008273", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "sodium ion transmembrane transport", "id": "GO:0035725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035725", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q9HC58", "url": "https://www.uniprot.org/uniprot/Q9HC58" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 383, "end_pos": 385, "annotation": "n_glycosylation_sequon" }, { "start_pos": 396, "end_pos": 398, "annotation": "n_glycosylation_sequon" }, { "start_pos": 409, "end_pos": 411, "annotation": "n_glycosylation_sequon" }, { "start_pos": 71, "end_pos": 73, "annotation": "n_glycosylation_sequon" }, { "start_pos": 86, "end_pos": 88, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "69967", "name": "", "equation": "Ca(2+)(out) + K(+)(out) + 4 Na(+)(in) = Ca(2+)(in) + K(+)(in) + 4 Na(+)(out)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "69967", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69967" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": 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"authors" ] } ] }