{ "uniprot_canonical_ac": "O60721-1", "uniprot_ac": "O60721", "uniprot_id": "NCKX1_HUMAN", "mass": { "chemical_mass": 121374.0, "monoisotopic_mass": 121374.0 }, "refseq": { "ac": "NP_001287962", "name": "sodium/potassium/calcium exchanger 1 isoform 5", "summary": "This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" }, "gene_names": [ { "name": "SLC24A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60721", "id": "O60721" }, { "name": "CSNB1D; HsT17412; NCKX; NCKX1; RODX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962", "id": "NP_001287962" }, { "name": "KIAA0702", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60721", "id": "O60721" }, { "name": "NCKX1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60721", "id": "O60721" }, { "name": "SLC24A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962", "id": "NP_001287962" } ], "protein_names": [ { "name": "Sodium/potassium/calcium exchanger 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60721" }, { "name": "Na(+)/K(+)/Ca(2+)-exchange protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60721" }, { "name": "Retinal rod Na-Ca+K exchanger", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60721" }, { "name": "Solute carrier family 24 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60721" }, { "name": "retinal rod Na+/Ca+/K+ exchanger; Na(+)/K(+)/Ca(2+)-exchange protein 1; Na/Ca-K exchanger 1; solute carrier family 24 (sodium/potassium/calcium exchanger), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962", "id": "NP_001287962" }, { "name": "sodium/potassium/calcium exchanger 1 isoform 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962", "id": "NP_001287962" } ], "function": [ { "annotation": "A mutation in SLC24A1 is implicated in autosomal-recessive congenital stationary night blindness.", "evidence": [ { "database": "RefSeq", "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" }, { "database": "PubMed", "id": "20850105", "url": "https://glygen.org/publication/PubMed/20850105" } ] }, { "annotation": "Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:26631410). Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105). Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation (PubMed:20850105).", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721#function" }, { "database": "PubMed", "id": "20850105", "url": "https://glygen.org/publication/PubMed/20850105" }, { "database": "PubMed", "id": "26631410", "url": "https://glygen.org/publication/PubMed/26631410" } ] }, { "annotation": "The index patient and his affected brother carry a homozygous single-nucleotide variants (SNVs) in sodium-calcium, potassium exchanger (SLC24A1) (c.2401G > T).", "evidence": [ { "database": "RefSeq", "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" }, { "database": "PubMed", "id": "26822852", "url": "https://glygen.org/publication/PubMed/26822852" } ] }, { "annotation": "This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" } ] }, { "annotation": "We report the association of many previously unreported variants with retinal disease, as well as new disease phenotypes associated with known genes, including the first association of the SLC24A1 gene with retinitis pigmentosa Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" }, { "database": "PubMed", "id": "27624628", "url": "https://glygen.org/publication/PubMed/27624628" } ] } ], "disease": [ { "disease_id": "DOID:0110868", "recommended_name": { "id": "DOID:0110868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110868", "name": "congenital stationary night blindness 1D", "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22." }, "synonyms": [ { "id": "DOID:0110868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110868", "name": "CSNB1D", "description": "" }, { "id": "DOID:0110868", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110868", "name": "congenital stationary night blindness 1D autosomal recessive", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "congenital stationary night blindness 1D", "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "CSNB1D", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "SLC24A1 congenital stationary night blindness", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "congenital stationary night blindness 1D", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "congenital stationary night blindness 1D autosomal recessive", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "congenital stationary night blindness caused by mutation in SLC24A1", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "congenital stationary night blindness type 1D", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "night blindness, congenital stationary (complete), 1D, autosomal recessive", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "Csnb, complete, autosomal recessive", "description": "" }, { "id": "MONDO:0013450", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013450", "name": "night blindness, congenital stationary, type 1D", "description": "" }, { "id": "MIM:613830", "resource": "MIM", "url": "https://www.omim.org/entry/613830", "name": "Night blindness, congenital stationary, 1D", "description": "Night blindness, congenital stationary, 1D" } ], "evidence": [ { "id": "613830", "database": "MIM", "url": "https://www.omim.org/entry/613830" } ] } ], "snv": [ { "evidence": [ { "id": "O60721", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60721" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1013, "end_pos": 1013, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "15", "chr_pos": "65652795", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1013", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O60721", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60721" } ], "glycoeffect": [], "start_pos": 1060, "end_pos": 1060, "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": "15", "chr_pos": "65653958", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1060", "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. 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": "" 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"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 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"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, 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC24A1", "url": "https://www.uniprot.org/uniprot/O60721", "locus": { "chromosome": "15", "start_pos": 65660995, "end_pos": 65611366, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000074621", "url": "https://www.ensembl.org/id/ENSG00000074621" } ] } } ], "crossref": [ { "id": "ENSG00000074621", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000074621", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60721", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60721", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "SLC24A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC24A1", "database": "GeneCards", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9187", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9187", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603617", "url": "http://www.omim.org/entry/603617", "database": "MIM", "categories": [ "Other" ] }, { "id": "613830", "url": "http://www.omim.org/entry/613830", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60721", "url": "https://www.nextprot.org/entry/NX_O60721", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "RTTIYQL", "url": "https://omabrowser.org/oma/group/RTTIYQL/", "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:SF36", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10846:SF36", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01699", "url": "http://pfam.xfam.org/family/PF01699", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60721", "url": "https://pharos.nih.gov/targets/O60721", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60721", "url": "http://purl.obolibrary.org/obo/PR_O60721", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619077", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619077", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "69967", "url": "https://www.rhea-db.org/rhea/69967", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F5H127", "url": "https://www.uniprot.org/uniprot/F5H127", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H127-1", "url": "https://www.uniprot.org/uniprot/F5H127-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H483", "url": "https://www.uniprot.org/uniprot/F5H483", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H483-1", "url": "https://www.uniprot.org/uniprot/F5H483-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH06", "url": "https://www.uniprot.org/uniprot/H0YH06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH06-1", "url": "https://www.uniprot.org/uniprot/H0YH06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60721-1", "url": "https://www.uniprot.org/uniprot/O60721-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60721-2", "url": "https://www.uniprot.org/uniprot/O60721-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60721-3", "url": "https://www.uniprot.org/uniprot/O60721-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV", "length": 1099, "header": "sp|O60721-1|NCKX1_HUMAN Isoform 1 of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "isoforms": [ { "isoform_ac": "F5H127-1", "url": "", "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGVGSCEMFQHGAIH", "length": 1012, "header": "tr|F5H127-1|F5H127_HUMAN Computationally mapped isoform of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65660318, "end_pos": 65624081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000537259.5", "url": "https://www.ensembl.org/id/ENST00000537259.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439693.1", "url": "https://www.ensembl.org/id/ENSP00000439693.1" } ] } }, { "isoform_ac": "F5H483-1", "url": "", "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV", "length": 985, "header": "tr|F5H483-1|F5H483_HUMAN Computationally mapped isoform of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65654076, "end_pos": 65624081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544319.6", "url": "https://www.ensembl.org/id/ENST00000544319.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000445163.1", "url": "https://www.ensembl.org/id/ENSP00000445163.1" } ] } }, { "isoform_ac": "H0YH06-1", "url": "", "sequence": { "sequence": "XRKGLGDMAVSSSVGSNIFDITVGVWLLLPRLVCNGVISAHHNLHLPGSSNSPASA", "length": 56, "header": "tr|H0YH06-1|H0YH06_HUMAN Computationally mapped isoform of Solute carrier family 24 member 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=4 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65654827, "end_pos": 65652739, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505666.2", "url": "https://www.ensembl.org/id/ENST00000505666.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000445577.1", "url": "https://www.ensembl.org/id/ENSP00000445577.1" } ] } }, { "isoform_ac": "O60721-1", "url": "", "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV", "length": 1099, "header": "sp|O60721-1|NCKX1_HUMAN Isoform 1 of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65654076, "end_pos": 65624081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261892.11", "url": "https://www.ensembl.org/id/ENST00000261892.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000261892.6", "url": "https://www.ensembl.org/id/ENSP00000261892.6" } ] } }, { "isoform_ac": "O60721-2", "url": "", "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV", "length": 1081, "header": "sp|O60721-2|NCKX1_HUMAN Isoform 2 of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65654076, "end_pos": 65624081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546330.1", "url": "https://www.ensembl.org/id/ENST00000546330.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439190.1", "url": "https://www.ensembl.org/id/ENSP00000439190.1" } ] } }, { "isoform_ac": "O60721-3", "url": "", "sequence": { "sequence": "MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV", "length": 1069, "header": "sp|O60721-3|NCKX1_HUMAN Isoform 3 of Sodium/potassium/calcium exchanger 1 OS=Homo sapiens OX=9606 GN=SLC24A1 PE=1 SV=1 CANONICAL=O60721-1" }, "locus": { "chromosome": "15", "start_pos": 65654076, "end_pos": 65624081, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000339868.10", "url": "https://www.ensembl.org/id/ENST00000339868.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000341837.7", "url": "https://www.ensembl.org/id/ENSP00000341837.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 290, "start_aa": "Asn", "end_pos": 290, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn290", "evidence": [ { "id": "O60721", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60721#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1015, "end_pos": 1015, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60721" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr1015" }, { "start_pos": 658, "end_pos": 658, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" } ], "site_lbl": "Ser658" }, { "start_pos": 724, "end_pos": 724, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60721" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr724" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved signal sequence required for translocation of the N terminus.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "McKiernan CJ, Friedlander M", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" } ], "reference": [ { "type": "PubMed", "id": "10608890", "url": "https://glygen.org/publication/PubMed/10608890" } ] }, { "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": "The Journal of biological chemistry", "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": "Reactome", "id": "R-HSA-425561", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425561" } ], "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": "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.", "journal": "Nature", "date": "2002", "authors": "Zhong H, Molday LL, Molday RS, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12432397", "url": "https://glygen.org/publication/PubMed/12432397" } ] }, { "title": "Subunit stoichiometry of the CNG channel of rod photoreceptors.", "journal": "Neuron", "date": "2002", "authors": "Weitz D, Ficek N, Kremmer E, Bauer PJ, Kaupp UB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12467591", "url": "https://glygen.org/publication/PubMed/12467591" } ] }, { "title": "Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit.", "journal": "Neuron", "date": "2002", "authors": "Zheng J, Trudeau MC, Zagotta WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "12467592", "url": "https://glygen.org/publication/PubMed/12467592" } ] }, { "title": "Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "1992", "authors": "Dhallan RS, Macke JP, Eddy RL, Shows TB, Reed RR, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1379636", "url": "https://glygen.org/publication/PubMed/1379636" } ] }, { "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": "Characterization of the human rod transducin alpha-subunit gene.", "journal": "Nucleic acids research", "date": "1992", "authors": "Fong SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1614872", "url": "https://glygen.org/publication/PubMed/1614872" } ] }, { "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": "CNG and HCN channels: two peas, one pod.", "journal": "Annual review of physiology", "date": "2006", "authors": "Craven KB, Zagotta WN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "16460277", "url": "https://glygen.org/publication/PubMed/16460277" } ] }, { "title": "Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3.", "journal": "Nucleic acids research", "date": "1991", "authors": "Weber B, Riess O, Hutchinson G, Collins C, Lin BY, Kowbel D, Andrew S, Schappert K, Hayden MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1720239", "url": "https://glygen.org/publication/PubMed/1720239" } ] }, { "title": "Light and dark active phosphodiesterase regulation in salamander rods.", "journal": "The Journal of general physiology", "date": "1991", "authors": "Cobbs WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "1722240", "url": "https://glygen.org/publication/PubMed/1722240" } ] }, { "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": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" }, { "database": "iPTMnet", "id": "O60721", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60721" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.", "journal": "American journal of human genetics", "date": "2010", "authors": "Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" }, { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" }, { "database": "RefSeq", "id": "NP_001287962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287962" } ], "reference": [ { "type": "PubMed", "id": "20850105", "url": "https://glygen.org/publication/PubMed/20850105" } ] }, { "title": "Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.", "journal": "Genomics", "date": "1990", "authors": "Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2155175", "url": "https://glygen.org/publication/PubMed/2155175" } ] }, { "title": "Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina.", "journal": "Gene", "date": "1990", "authors": "Tuteja N, Danciger M, Klisak I, Tuteja R, Inana G, Mohandas T, Sparkes RS, Farber DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2161380", "url": "https://glygen.org/publication/PubMed/2161380" } ] }, { "title": "Electrical properties of the light-sensitive conductance of rods of the salamander Ambystoma tigrinum.", "journal": "The Journal of physiology", "date": "1986", "authors": "Baylor DA, Nunn BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2422346", "url": "https://glygen.org/publication/PubMed/2422346" } ] }, { "title": "Calcium and magnesium fluxes across the plasma membrane of the toad rod outer segment.", "journal": "The Journal of physiology", "date": "1988", "authors": "Nakatani K, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2457685", "url": "https://glygen.org/publication/PubMed/2457685" } ] }, { "title": "Cyclic GMP-activated conductance of retinal photoreceptor cells.", "journal": "Annual review of neuroscience", "date": "1989", "authors": "Yau KW, Baylor DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2467600", "url": "https://glygen.org/publication/PubMed/2467600" } ] }, { "title": "Control of light-sensitive current in salamander rods.", "journal": "The Journal of physiology", "date": "1988", "authors": "Hodgkin AL, Nunn BJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2473195", "url": "https://glygen.org/publication/PubMed/2473195" } ] }, { "title": "Induction by cyclic GMP of cationic conductance in plasma membrane of retinal rod outer segment.", "journal": "Nature", "date": "1985", "authors": "Fesenko EE, Kolesnikov SS, Lyubarsky AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2578616", "url": 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"https://www.ncbi.nlm.nih.gov/protein/NP_001287962" } ], "reference": [ { "type": "PubMed", "id": "26822852", "url": "https://glygen.org/publication/PubMed/26822852" } ] }, { "title": "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "journal": "Nucleic acids research", "date": "1989", "authors": "Van Dop C, Medynski DC, Apone LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2748346", "url": "https://glygen.org/publication/PubMed/2748346" } ] }, { "title": "Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.", "journal": "Scientific reports", "date": "2016", "authors": "Carrigan M, Duignan E, Malone CP, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna PF, Farrar GJ", "evidence": [ { "database": "RefSeq", "id": "NP_001287962", 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Definition of the metabolic events subserving photoexcited and attenuated states.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Dawis SM, Graeff RM, Heyman RA, Walseth TF, Goldberg ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2837463", "url": "https://glygen.org/publication/PubMed/2837463" } ] }, { "title": "Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical.", "journal": "FEBS letters", "date": "1986", "authors": "Codina J, Stengel D, Woo SL, Birnbaumer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3095147", "url": "https://glygen.org/publication/PubMed/3095147" } ] }, { "title": "The sequence of human retinal S-antigen reveals similarities with alpha-transducin.", "journal": "FEBS letters", "date": "1988", "authors": "Yamaki K, Tsuda M, Shinohara T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3164688", "url": "https://glygen.org/publication/PubMed/3164688" } ] }, { "title": "Effect of GTP on the rhodopsin-G-protein complex by transient formation of extra metarhodopsin II.", "journal": "Biochimica et biophysica acta", "date": "1985", "authors": "Hofmann KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "3933561", "url": "https://glygen.org/publication/PubMed/3933561" } ] }, { "title": "Regulation of cyclic nucleotide concentrations in photoreceptors: an ATP-dependent stimulation of cyclic nucleotide phosphodiesterase by light.", 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Ophthalmol. Vis. Sci.", "date": "1998", "authors": "Tucker JE, Winkfein RJ, Cooper CB, Schnetkamp PP", "evidence": [ { "database": "UniProtKB", "id": "O60721", "url": "https://www.uniprot.org/uniprot/O60721" }, { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "9478004", "url": "https://glygen.org/publication/PubMed/9478004" } ] }, { "title": "Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger.", "journal": "Hum. 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