{ "uniprot_canonical_ac": "P10523-1", "uniprot_ac": "P10523", "uniprot_id": "ARRS_HUMAN", "mass": { "chemical_mass": 45120.0, "monoisotopic_mass": 45120.0 }, "refseq": { "ac": "NP_000532", "name": "S-arrestin", "summary": "Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" }, "gene_names": [ { "name": "SAG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10523", "id": "P10523" }, { "name": "RP47; RP96; S-AG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "id": "NP_000532" }, { "name": "SAG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "id": "NP_000532" } ], "protein_names": [ { "name": "S-arrestin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10523" }, { "name": "48 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10523" }, { "name": "Retinal S-antigen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10523" }, { "name": "Rod photoreceptor arrestin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10523" }, { "name": "S-AG", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10523" }, { "name": "S-arrestin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "id": "NP_000532" }, { "name": "arrestin 1; rod photoreceptor arrestin; retinal S-antigen (48 KDa protein); 48 kDa protein; S-antigen; retina and pineal gland (arrestin); rod arrestin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "id": "NP_000532" } ], "function": [ { "annotation": "Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523#function" }, { "database": "UniProtKB", "id": "P08168", "url": "https://www.uniprot.org/uniprot/P08168#function" }, { "database": "PubMed", "id": "9565049", "url": "https://glygen.org/publication/PubMed/9565049" } ] }, { "annotation": "Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" } ] }, { "annotation": "Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" }, { "database": "PubMed", "id": "35549688", "url": "https://glygen.org/publication/PubMed/35549688" } ] }, { "annotation": "Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" }, { "database": "PubMed", "id": "32333190", "url": "https://glygen.org/publication/PubMed/32333190" } ] }, { "annotation": "Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" }, { "database": "PubMed", "id": "33047631", "url": "https://glygen.org/publication/PubMed/33047631" } ] } ], "disease": [ { "disease_id": "DOID:0110369", "recommended_name": { "id": "DOID:0110369", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110369", "name": "retinitis pigmentosa 47", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37." }, "synonyms": [ { "id": "DOID:0110369", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110369", "name": "RP47", "description": "" }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "retinitis pigmentosa 47", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "RP47", "description": "" }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "SAG retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "retinitis pigmentosa 47", "description": "" }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "retinitis pigmentosa caused by mutation in SAG", "description": "" }, { "id": "MONDO:0013407", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013407", "name": "retinitis pigmentosa type 47", "description": "" }, { "id": "MIM:613758", "resource": "MIM", "url": "https://www.omim.org/entry/613758", "name": "Retinitis pigmentosa 47", "description": "Retinitis pigmentosa 47" } ], "evidence": [ { "id": "613758", "database": "MIM", "url": "https://www.omim.org/entry/613758" } ] }, { "disease_id": "DOID:0110712", "recommended_name": { "id": "DOID:0110712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110712", "name": "Oguchi disease-1", "description": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37." }, "synonyms": [ { "id": "DOID:0110712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110712", "name": "congenital stationary night blindness Oguchi type 1", "description": "" }, { "id": "DOID:0110712", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110712", "name": "CSNBO1", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "Oguchi disease-1", "description": "Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene." }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "CSNBO1", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "Oguchi disease caused by mutation in SAG", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "Oguchi disease type 1", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "SAG Oguchi disease", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "congenital stationary night blindness Oguchi type 1", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "Oguchi disease 1", "description": "" }, { "id": "MONDO:0009775", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009775", "name": "night blindness, congenital stationary, Oguchi type 1", "description": "" }, { "id": "MIM:258100", "resource": "MIM", "url": "https://www.omim.org/entry/258100", "name": "Night blindness, congenital stationary, Oguchi type 1", "description": "Night blindness, congenital stationary, Oguchi type 1" } ], "evidence": [ { "id": "258100", "database": "MIM", "url": "https://www.omim.org/entry/258100" } ] }, { "disease_id": "MONDO:0859367", "recommended_name": { "id": "MONDO:0859367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859367", "name": "retinitis pigmentosa 96", "description": "" }, "synonyms": [ { "id": "MIM:620228", "resource": "MIM", "url": "https://www.omim.org/entry/620228", "name": "Retinitis pigmentosa 96", "description": "Retinitis pigmentosa 96" } ], "evidence": [ { "id": "620228", "database": "MIM", "url": "https://www.omim.org/entry/620228" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "48.35", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "47.87", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "43.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "50.91", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "44.62", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "48.63", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "45.17", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "47.51", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "52.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P10523", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10523" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "common_name": "Human" } ], "gene": [ { "name": "SAG", "url": "https://www.uniprot.org/uniprot/P10523", "locus": { "chromosome": "2", "start_pos": 233347055, "end_pos": 233307816, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000130561", "url": "https://www.ensembl.org/id/ENSG00000130561" } ] } } ], "crossref": [ { "id": "ENSG00000130561", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130561", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "SAG", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SAG", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6295", "url": "https://www.ncbi.nlm.nih.gov/gene/6295", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10521", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10521", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P10523", "url": "https://www.ebi.ac.uk/intact/interactors/id:P10523*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000698", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000698", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011021", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011021", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011022", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011022", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014752", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014752", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014753", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014753", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017864", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017864", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6295", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6295", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "181031", "url": "http://www.omim.org/entry/181031", "database": "MIM", "categories": [ "Other" ] }, { "id": "258100", "url": "http://www.omim.org/entry/258100", "database": "MIM", "categories": [ "Other" ] }, { "id": "613758", "url": "http://www.omim.org/entry/613758", "database": "MIM", "categories": [ "Other" ] }, { "id": "620228", "url": "http://www.omim.org/entry/620228", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P10523", "url": "https://www.nextprot.org/entry/NX_P10523", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "QPAPQDM", "url": "https://omabrowser.org/oma/group/QPAPQDM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3059077at2759", "url": "http://www.orthodb.org/?query=3059077at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11792", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11792", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11792:SF15", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11792:SF15", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00339", "url": "http://pfam.xfam.org/family/PF00339", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02752", "url": "http://pfam.xfam.org/family/PF02752", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10523", "url": "https://pharos.nih.gov/targets/P10523", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10523", "url": "http://purl.obolibrary.org/obo/PR_P10523", "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-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JSX4", "url": "https://www.uniprot.org/uniprot/C9JSX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JSX4-1", "url": "https://www.uniprot.org/uniprot/C9JSX4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ESX4", "url": "https://www.uniprot.org/uniprot/E7ESX4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7ESX4-1", "url": "https://www.uniprot.org/uniprot/E7ESX4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCN5", "url": "https://www.uniprot.org/uniprot/F8WCN5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCN5-1", "url": "https://www.uniprot.org/uniprot/F8WCN5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10523-1", "url": "https://www.uniprot.org/uniprot/P10523-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDAEEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGEPIPVTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKTLTLLPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDANLVFEEFARHNLKDAGEAEEGKRDKNDVDE", "length": 405, "header": "sp|P10523-1|ARRS_HUMAN Isoform 1 of S-arrestin OS=Homo sapiens OX=9606 GN=SAG PE=1 SV=3 CANONICAL=P10523-1" }, "isoforms": [ { "isoform_ac": "C9JSX4-1", "url": "", "sequence": { "sequence": "MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKGEMKPLVSGWFLGGVDCSLGGSGKGHLHGRRDRKAEAALLHMEPVPGPLTHTPVPNSRDIGPVDTRAHSL", "length": 130, "header": "tr|C9JSX4-1|ARRS_HUMAN Computationally mapped isoform of S-arrestin OS=Homo sapiens OX=9606 GN=SAG PE=1 SV=1 CANONICAL=P10523-1" }, "locus": { "chromosome": "HG2232_PATCH", "start_pos": 264342, "end_pos": 254528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000625330", "url": "https://www.ensembl.org/id/ENST00000625330" }, { "database": "Ensembl Peptide", "id": "ENSP00000485836", "url": "https://www.ensembl.org/id/ENSP00000485836" } ] } }, { "isoform_ac": "E7ESX4-1", "url": "", "sequence": { "sequence": "MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDAEEDKIP", "length": 169, "header": "tr|E7ESX4-1|ARRS_HUMAN Computationally mapped isoform of S-arrestin OS=Homo sapiens OX=9606 GN=SAG PE=1 SV=1 CANONICAL=P10523-1" }, "locus": { "chromosome": "HG2232_PATCH", "start_pos": 272530, "end_pos": 254528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000628376", "url": "https://www.ensembl.org/id/ENST00000628376" }, { "database": "Ensembl Peptide", "id": "ENSP00000487232", "url": "https://www.ensembl.org/id/ENSP00000487232" } ] } }, { "isoform_ac": "F8WCN5-1", "url": "", "sequence": { "sequence": "MAASGKTSKSEPNHVIFKKISRDKSMVSCWLILIL", "length": 35, "header": "tr|F8WCN5-1|ARRS_HUMAN Computationally mapped isoform of S-arrestin OS=Homo sapiens OX=9606 GN=SAG PE=1 SV=1 CANONICAL=P10523-1" }, "locus": { "chromosome": "HG2232_PATCH", "start_pos": 264118, "end_pos": 254528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630167", "url": "https://www.ensembl.org/id/ENST00000630167" }, { "database": "Ensembl Peptide", "id": "ENSP00000486299", "url": "https://www.ensembl.org/id/ENSP00000486299" } ] } }, { "isoform_ac": "P10523-1", "url": "", "sequence": { "sequence": "MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTYPFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDAEEDKIPKKSSVRLLIRKVQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGEPIPVTVTVTNNTEKTVKKIKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKTLTLLPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESYQDANLVFEEFARHNLKDAGEAEEGKRDKNDVDE", "length": 405, "header": "sp|P10523-1|ARRS_HUMAN Isoform 1 of S-arrestin OS=Homo sapiens OX=9606 GN=SAG PE=1 SV=3 CANONICAL=P10523-1" }, "locus": { "chromosome": "HG2232_PATCH", "start_pos": 292247, "end_pos": 254528, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000631149.3", "url": "https://www.ensembl.org/id/ENST00000631149.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000486571.1", "url": "https://www.ensembl.org/id/ENSP00000486571.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 234, "end_pos": 234, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "site_lbl": "Thr234" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Haeseleer F, Sokal I, Li N, Pettenati M, Rao N, Bronson D, Wechter R, Baehr W, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "10037746", "url": "https://glygen.org/publication/PubMed/10037746" } ] }, { "title": "The GTPase activating factor for transducin in rod photoreceptors is the complex between RGS9 and type 5 G protein beta subunit.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Makino ER, Handy JW, Li T, Arshavsky VY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "10051575", "url": "https://glygen.org/publication/PubMed/10051575" } ] }, { "title": "Structure, alternative splicing, and expression of the human RGS9 gene.", "journal": "Gene", "date": "1999", "authors": "Zhang K, Howes KA, He W, Bronson JD, Pettenati MJ, Chen C, Palczewski K, Wensel TG, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "10564809", "url": "https://glygen.org/publication/PubMed/10564809" } ] }, { "title": "Slowed recovery of rod photoresponse in mice lacking the GTPase accelerating protein RGS9-1.", "journal": "Nature", "date": "2000", "authors": "Chen CK, Burns ME, He W, Wensel TG, Baylor DA, Simon MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "10676965", "url": "https://glygen.org/publication/PubMed/10676965" } ] }, { "title": "Phosphorylation of RGS9-1 by an endogenous protein kinase in rod outer segments.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hu G, Jang GF, Cowan CW, Wensel TG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "11292825", "url": "https://glygen.org/publication/PubMed/11292825" } ] }, { "title": "Phosphorylation of the regulator of G protein signaling RGS9-1 by protein kinase A is a potential mechanism of light- and Ca2+-mediated regulation of G protein function in photoreceptors.", "journal": "Biochemistry", "date": "2001", "authors": "Balasubramanian N, Levay K, Keren-Raifman T, Faurobert E, Slepak VZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "11601986", "url": "https://glygen.org/publication/PubMed/11601986" } ] }, { "title": "The crystal structure of human protein farnesyltransferase reveals the basis for inhibition by CaaX tetrapeptides and their mimetics.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Long SB, Hancock PJ, Kral AM, Hellinga HW, Beese LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "11687658", "url": "https://glygen.org/publication/PubMed/11687658" } ] }, { "title": "Normal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF hands (PPEF-1 and PPEF-2).", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Ramulu P, Kennedy M, Xiong WH, Williams J, Cowan M, Blesh D, Yau KW, Hurley JB, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "11713293", "url": "https://glygen.org/publication/PubMed/11713293" } ] }, { "title": "Characterization of human GRK7 as a potential cone opsin kinase.", "journal": "Molecular vision", "date": "2001", "authors": "Chen CK, Zhang K, Church-Kopish J, Huang W, Zhang H, Chen YJ, Frederick JM, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "11754336", "url": "https://glygen.org/publication/PubMed/11754336" } ] }, { "title": "3-Aminopyrrolidinone farnesyltransferase inhibitors: design of macrocyclic compounds with improved pharmacokinetics and excellent cell potency.", "journal": "Journal of medicinal chemistry", "date": "2002", "authors": "Bell IM, Gallicchio SN, Abrams M, Beese LS, Beshore DC, Bhimnathwala H, Bogusky MJ, Buser CA, Culberson JC, Davide J, Ellis-Hutchings M, Fernandes C, Gibbs JB, Graham SL, Hamilton KA, Hartman GD, Heimbrook DC, Homnick CF, Huber HE, Huff JR, Kassahun K, Koblan KS, Kohl NE, Lobell RB, Lynch JJ Jr, Robinson R, Rodrigues AD, Taylor JS, Walsh ES, Williams TM, Zartman CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12036349", "url": "https://glygen.org/publication/PubMed/12036349" } ] }, { "title": "R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hu G, Wensel TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12119397", "url": "https://glygen.org/publication/PubMed/12119397" } ] }, { "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": "Identification of protein kinase C isozymes responsible for the phosphorylation of photoreceptor-specific RGS9-1 at Ser475.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Sokal I, Hu G, Liang Y, Mao M, Wensel TG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12499365", "url": "https://glygen.org/publication/PubMed/12499365" } ] }, { "title": "Dual protein farnesyltransferase-geranylgeranyltransferase-I inhibitors as potential cancer chemotherapeutic agents.", "journal": "Journal of medicinal chemistry", "date": "2003", "authors": "deSolms SJ, Ciccarone TM, MacTough SC, Shaw AW, Buser CA, Ellis-Hutchings M, Fernandes C, Hamilton KA, Huber HE, Kohl NE, Lobell RB, Robinson RG, Tsou NN, Walsh ES, Graham SL, Beese LS, Taylor JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "12825937", "url": "https://glygen.org/publication/PubMed/12825937" } ] }, { "title": "Molecular cloning of a retina-specific membrane guanylyl cyclase.", "journal": "Neuron", "date": "1992", "authors": "Shyjan AW, de Sauvage FJ, Gillett NA, Goeddel DV, Lowe DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1356371", "url": "https://glygen.org/publication/PubMed/1356371" } ] }, { "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": "Isolation of human retinal genes: recoverin cDNA and gene.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Murakami A, Yajima T, Inana G", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1387789", "url": "https://glygen.org/publication/PubMed/1387789" } ] }, { "title": "Lipid modification at the N terminus of photoreceptor G-protein alpha-subunit.", "journal": "Nature", "date": "1992", "authors": "Kokame K, Fukada Y, Yoshizawa T, Takao T, Shimonishi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1436039", "url": "https://glygen.org/publication/PubMed/1436039" } ] }, { "title": "Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.", "journal": "Nature", "date": "2004", "authors": "Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "14702087", "url": "https://glygen.org/publication/PubMed/14702087" } ] }, { "title": "Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.", "journal": "Ophthalmology", "date": "2004-07", "authors": "Nakamura Makoto, Yamamoto Shuji, Okada Masaki, Ito Sei, Tano Yasuo, Miyake Yozo", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "15234147", "url": "https://glygen.org/publication/PubMed/15234147" } ] }, { "title": "Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Horner TJ, Osawa S, Schaller MD, Weiss ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "15946941", "url": "https://glygen.org/publication/PubMed/15946941" } ] }, { "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": "Structural basis for the functional differences between type I and type II human methionine aminopeptidases.", "journal": "Biochemistry", "date": "2005", "authors": "Addlagatta A, Hu X, Liu JO, Matthews BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16274222", "url": "https://glygen.org/publication/PubMed/16274222" } ] }, { "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": "Transducin subunit stoichiometry and cellular distribution in rod outer segments.", "journal": "Cell biology international", "date": "2006", "authors": "Clack JW, Springmeyer ML, Clark CR, Witzmann FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16895762", "url": "https://glygen.org/publication/PubMed/16895762" } ] }, { "title": "RGS expression rate-limits recovery of rod photoresponses.", "journal": "Neuron", "date": "2006", "authors": "Krispel CM, Chen D, Melling N, Chen YJ, Martemyanov KA, Quillinan N, Arshavsky VY, Wensel TG, Chen CK, Burns ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "16908407", "url": "https://glygen.org/publication/PubMed/16908407" } ] }, { "title": "Elucidation of the function of type 1 human methionine aminopeptidase during cell cycle progression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Hu X, Addlagatta A, Lu J, Matthews BW, Liu JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "17114291", "url": "https://glygen.org/publication/PubMed/17114291" } ] }, { "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": "Mapping of transcription start sites of human retina expressed genes.", "journal": "BMC Genomics", "date": "2007", "authors": "Roni Valeria, Carpio Ronald, Wissinger Bernd", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "17286855", "url": "https://glygen.org/publication/PubMed/17286855" } ] }, { "title": "Highly potent inhibitors of methionine aminopeptidase-2 based on a 1,2,4-triazole pharmacophore.", "journal": "Journal of medicinal chemistry", "date": "2007", "authors": "Marino JP Jr, Fisher PW, Hofmann GA, Kirkpatrick RB, Janson CA, Johnson RK, Ma C, Mattern M, Meek TD, Ryan MD, Schulz C, Smith WW, Tew DG, Tomazek TA Jr, Veber DF, Xiong WC, Yamamoto Y, Yamashita K, Yang G, Thompson SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "17636946", "url": "https://glygen.org/publication/PubMed/17636946" } ] }, { "title": "Phosphorylation of GRK7 by PKA in cone photoreceptor cells is regulated by light.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Osawa S, Jo R, Weiss ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "18803695", "url": "https://glygen.org/publication/PubMed/18803695" } ] }, { "title": "Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).", "journal": "Ophthalmology", "date": "2010", "authors": "Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "19818506", "url": "https://glygen.org/publication/PubMed/19818506" } ] }, { "title": "A photoreceptor calcium binding protein is recognized by autoantibodies obtained from patients with cancer-associated retinopathy.", "journal": "The Journal of cell biology", "date": "1991", "authors": "Polans AS, Buczylko J, Crabb J, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "1999465", "url": "https://glygen.org/publication/PubMed/1999465" } ] }, { "title": "Lessons from photoreceptors: turning off g-protein signaling in living cells.", "journal": "Physiology (Bethesda, Md.)", "date": "2010", "authors": "Burns ME, Pugh EN Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "20430952", "url": "https://glygen.org/publication/PubMed/20430952" } ] }, { "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": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "20850105", "url": "https://glygen.org/publication/PubMed/20850105" } ] }, { "title": "Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.", "journal": "Nature communications", "date": "2010", "authors": "Magnani R, Dirk LM, Trievel RC, Houtz RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "20975703", "url": "https://glygen.org/publication/PubMed/20975703" } ] }, { "title": "Robust self-association is a common feature of mammalian visual arrestin-1.", "journal": "Biochemistry", "date": "2011", "authors": "Kim M, Hanson SM, Vishnivetskiy SA, Song X, Cleghorn WM, Hubbell WL, Gurevich VV", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "21288033", "url": "https://glygen.org/publication/PubMed/21288033" } ] }, { "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": "Speed, sensitivity, and stability of the light response in rod and cone photoreceptors: facts and models.", "journal": "Progress in retinal and eye research", "date": "2012", "authors": "Korenbrot JI", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "22658984", "url": "https://glygen.org/publication/PubMed/22658984" } ] }, { "title": "A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.", "journal": "Molecular vision", "date": "2012", "authors": "Waheed Nadia K, Qavi Ahmed H, Malik Sarah N, Maria Maleeha, Riaz Moeen, Cremers Frans P M, Azam Maleeha, Qamar Raheel", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "22665972", "url": "https://glygen.org/publication/PubMed/22665972" } ] }, { "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": "The catalytic subunit of phosphatase 2A dephosphorylates phosphoopsin.", "journal": "Biochemistry", "date": "1989", "authors": "Palczewski K, Hargrave PA, McDowell JH, Ingebritsen TS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2540796", "url": "https://glygen.org/publication/PubMed/2540796" } ] }, { "title": "Regulation of rhodopsin dephosphorylation by arrestin.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Palczewski K, McDowell JH, Jakes S, Ingebritsen TS, Hargrave PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2550422", "url": "https://glygen.org/publication/PubMed/2550422" } ] }, { "title": "Interplay of phosphorylation and dephosphorylation in vision: protein phosphatases of bovine rod outer segments.", "journal": "Biochemistry", "date": "1989", "authors": "Fowles C, Akhtar M, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "2558719", "url": "https://glygen.org/publication/PubMed/2558719" } ] }, { "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": "https://glygen.org/publication/PubMed/2578616" } ] }, { "title": "Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.", "journal": "Nature", "date": "2015", "authors": "Kang Y, Zhou XE, Gao X, He Y, Liu W, Ishchenko A, Barty A, White TA, Yefanov O, Han GW, Xu Q, de Waal PW, Ke J, Tan MH, Zhang C, Moeller A, West GM, Pascal BD, Van Eps N, Caro LN, Vishnivetskiy SA, Lee RJ, Suino-Powell KM, Gu X, Pal K, Ma J, Zhi X, Boutet S, Williams GJ, Messerschmidt M, Gati C, Zatsepin NA, Wang D, James D, Basu S, Roy-Chowdhury S, Conrad CE, Coe J, Liu H, Lisova S, Kupitz C, Grotjohann I, Fromme R, Jiang Y, Tan M, Yang H, Li J, Wang M, Zheng Z, Li D, Howe N, Zhao Y, Standfuss J, Diederichs K, Dong Y, Potter CS, Carragher B, Caffrey M, Jiang H, Chapman HN, Spence JC, Fromme P, Weierstall U, Ernst OP, Katritch V, Gurevich VV, Griffin PR, Hubbell WL, Stevens RC, Cherezov V, Melcher K, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "26200343", "url": "https://glygen.org/publication/PubMed/26200343" } ] }, { "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": "Reciprocal control of retinal rod cyclic GMP phosphodiesterase by its gamma subunit and transducin.", "journal": "Proteins", "date": "1986", "authors": "Wensel TG, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "2835761", "url": "https://glygen.org/publication/PubMed/2835761" } ] }, { "title": "Regulation of cyclic GMP metabolism in toad photoreceptors. 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": "A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.", "journal": "Investigative ophthalmology & visual science", "date": "2017", "authors": "Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "28549094", "url": "https://glygen.org/publication/PubMed/28549094" } ] }, { "title": "Identification of Phosphorylation Codes for Arrestin Recruitment by G Protein-Coupled Receptors.", "journal": "Cell", "date": "2017", "authors": "Zhou XE, He Y, de Waal PW, Gao X, Kang Y, Van Eps N, Yin Y, Pal K, Goswami D, White TA, Barty A, Latorraca NR, Chapman HN, Hubbell WL, Dror RO, Stevens RC, Cherezov V, Gurevich VV, Griffin PR, Ernst OP, Melcher K, Xu HE", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "28753425", "url": "https://glygen.org/publication/PubMed/28753425" } ] }, { "title": "Rous sarcoma virus transforming protein lacking myristic acid phosphorylates known polypeptide substrates without inducing transformation.", "journal": "Cell", "date": "1986", "authors": "Kamps MP, Buss JE, Sefton BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "3006923", "url": "https://glygen.org/publication/PubMed/3006923" } ] }, { "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 Lett.", "date": "1988", "authors": "Yamaki K, Tsuda M, Shinohara T", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" }, { "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": "Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.", "journal": "Documenta ophthalmologica. Advances in ophthalmology", "date": "2020", "authors": "Liu X, Gao L, Wang G, Long Y, Ren J, Fujinami K, Meng X, Li S", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" } ], "reference": [ { "type": "PubMed", "id": "32333190", "url": "https://glygen.org/publication/PubMed/32333190" } ] }, { "title": "Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.", "journal": "Ophthalmic genetics", "date": "2021", "authors": "Pappalardo J, Heath Jeffery RC, Thompson JA, Charng J, Chelva ES, Constable IJ, McLaren TL, Lamey TM, De Roach JN, Chen FK", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" }, { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" } ], "reference": [ { "type": "PubMed", "id": "33047631", "url": "https://glygen.org/publication/PubMed/33047631" } ] }, { "title": "Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.", "journal": "BMC ophthalmology", "date": "2022", "authors": "Tawfik CA, Elbagoury NM, Khater NI, Essawi ML", "evidence": [ { "database": "RefSeq", "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532" } ], "reference": [ { "type": "PubMed", "id": "35549688", "url": "https://glygen.org/publication/PubMed/35549688" } ] }, { "title": "Ultrastructural localization of retinal S antigen in the human retina.", "journal": "Exp. Eye Res.", "date": "1986", "authors": "McKechnie N M, Al-Mahdawi S, Dutton G, Forrester J V", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "3720866", "url": "https://glygen.org/publication/PubMed/3720866" } ] }, { "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.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1973", "authors": "Miki N, Keirns JJ, Marcus FR, Freeman J, Bitensky MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4359491", "url": "https://glygen.org/publication/PubMed/4359491" } ] }, { "title": "Light-regulated guanosine 3',5'-monophosphate phosphodiesterase of bovine retina.", "journal": "Nature", "date": "1974", "authors": "Goridis C, Virmaux N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4361997", "url": "https://glygen.org/publication/PubMed/4361997" } ] }, { "title": "Light activation of phosphodiesterase activity in retinal rod outer segments.", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Chader GJ, Herz LR, Fletcher RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "4366891", "url": "https://glygen.org/publication/PubMed/4366891" } ] }, { "title": "Kinetics of rhodopsin bleaching in the isolated human retina.", "journal": "The Journal of physiology", "date": "1973", "authors": "Baumann C, Bender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "4772407", "url": "https://glygen.org/publication/PubMed/4772407" } ] }, { "title": "Flow of information in the light-triggered cyclic nucleotide cascade of vision.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Fung BK, Hurley JB, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "6264430", "url": "https://glygen.org/publication/PubMed/6264430" } ] }, { "title": "Photolyzed rhodopsin catalyzes the exchange of GTP for bound GDP in retinal rod outer segments.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Kwok-Keung Fung B, Stryer L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "6930647", "url": "https://glygen.org/publication/PubMed/6930647" } ] }, { "title": "Interaction of calmodulin with the cyclic GMP-gated channel of rod photoreceptor cells. Modulation of activity, affinity purification, and localization.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Hsu YT, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7525588", "url": "https://glygen.org/publication/PubMed/7525588" } ] }, { "title": "Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Chen TY, Illing M, Molday LL, Hsu YT, Yau KW, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7526403", "url": "https://glygen.org/publication/PubMed/7526403" } ] }, { "title": "Eukaryotic methionyl aminopeptidases: two classes of cobalt-dependent enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Arfin SM, Kendall RL, Hall L, Weaver LH, Stewart AE, Matthews BW, Bradshaw RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7644482", "url": "https://glygen.org/publication/PubMed/7644482" } ] }, { "title": "A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.", "journal": "Nat. Genet.", "date": "1995", "authors": "Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" }, { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7670478", "url": "https://glygen.org/publication/PubMed/7670478" } ] }, { "title": "Modulation of the cGMP-gated channel of rod photoreceptor cells by calmodulin.", "journal": "Nature", "date": "1993", "authors": "Hsu YT, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7678445", "url": "https://glygen.org/publication/PubMed/7678445" } ] }, { "title": "A new subunit of the cyclic nucleotide-gated cation channel in retinal rods.", "journal": "Nature", "date": "1993", "authors": "Chen TY, Peng YW, Dhallan RS, Ahamed B, Reed RR, Yau KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "7682292", "url": "https://glygen.org/publication/PubMed/7682292" } ] }, { "title": "Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7777544", "url": "https://glygen.org/publication/PubMed/7777544" } ] }, { "title": "Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Subbaraya I, Ruiz CC, Helekar BS, Zhao X, Gorczyca WA, Pettenati MJ, Rao PN, Palczewski K, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "7983048", "url": "https://glygen.org/publication/PubMed/7983048" } ] }, { "title": "Amplification and kinetics of the activation steps in phototransduction.", "journal": "Biochimica et biophysica acta", "date": "1993", "authors": "Pugh EN Jr, Lamb TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8382952", "url": "https://glygen.org/publication/PubMed/8382952" } ] }, { "title": "Characterization of recombinant human farnesyl-protein transferase: cloning, expression, farnesyl diphosphate binding, and functional homology with yeast prenyl-protein transferases.", "journal": "Biochemistry", "date": "1993", "authors": "Omer CA, Kral AM, Diehl RE, Prendergast GC, Powers S, Allen CM, Gibbs JB, Kohl NE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8494894", "url": "https://glygen.org/publication/PubMed/8494894" } ] }, { "title": "Structure of the bovine transducin gamma subunit gene and analysis of promoter function in transgenic mice.", "journal": "Experimental eye research", "date": "1993", "authors": "Tao L, Pandey S, Simon MI, Fong HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8500562", "url": "https://glygen.org/publication/PubMed/8500562" } ] }, { "title": "Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Premont RT, Macrae AD, Stoffel RH, Chung N, Pitcher JA, Ambrose C, Inglese J, MacDonald ME, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8626439", "url": "https://glygen.org/publication/PubMed/8626439" } ] }, { "title": "Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.", "journal": "Nature genetics", "date": "1996", "authors": "Dryja TP, Hahn LB, Reboul T, Arnaud B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8673138", "url": "https://glygen.org/publication/PubMed/8673138" } ] }, { "title": "Calcium-activated opsin phosphatase activity in retinal rod outer segments.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Kutuzov MA, Bennett N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "8706659", "url": "https://glygen.org/publication/PubMed/8706659" } ] }, { "title": "Characterization and chromosomal localization of the gene for human rhodopsin kinase.", "journal": "Genomics", "date": "1996", "authors": "Khani SC, Abitbol M, Yamamoto S, Maravic-Magovcevic I, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8812493", "url": "https://glygen.org/publication/PubMed/8812493" } ] }, { "title": "Molecular origin of continuous dark noise in rod photoreceptors.", "journal": "Biophysical journal", "date": "1996", "authors": "Rieke F, Baylor DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2485179", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179" } ], "reference": [ { "type": "PubMed", "id": "8913594", "url": "https://glygen.org/publication/PubMed/8913594" } ] }, { "title": "Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.", "journal": "Nat. Genet.", "date": "1997", "authors": "Yamamoto S, Sippel KC, Berson EL, Dryja TP", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "9020843", "url": "https://glygen.org/publication/PubMed/9020843" } ] }, { "title": "The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1).", "journal": "Genomics", "date": "1997", "authors": "Surguchov A, Bronson JD, Banerjee P, Knowles JA, Ruiz C, Subbaraya I, Palczewski K, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9119368", "url": "https://glygen.org/publication/PubMed/9119368" } ] }, { "title": "Human N-myristoyltransferase amino-terminal domain involved in targeting the enzyme to the ribosomal subcellular fraction.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Glover CJ, Hartman KD, Felsted RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9353336", "url": "https://glygen.org/publication/PubMed/9353336" } ] }, { "title": "Molecular cloning, expression, and characterization of a novel human serine/threonine protein phosphatase, PP7, that is homologous to Drosophila retinal degeneration C gene product (rdgC).", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Huang X, Honkanen RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9430683", "url": "https://glygen.org/publication/PubMed/9430683" } ] }, { "title": "Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.", "journal": "Human mutation", "date": "1998", "authors": "Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "9452120", "url": "https://glygen.org/publication/PubMed/9452120" } ] }, { "title": "RGS9, a GTPase accelerator for phototransduction.", "journal": "Neuron", "date": "1998", "authors": "He W, Cowan CW, Wensel TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9459445", "url": "https://glygen.org/publication/PubMed/9459445" } ] }, { "title": "cDNA cloning of the human retinal rod Na-Ca + K exchanger: comparison with a revised bovine sequence.", "journal": "Investigative ophthalmology & visual science", "date": "1998", "authors": "Tucker JE, Winkfein RJ, Cooper CB, Schnetkamp PP", "evidence": [ { "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": "Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "1998", "authors": "Sippel K C, DeStefano J D, Berson E L, Dryja T P", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "9501883", "url": "https://glygen.org/publication/PubMed/9501883" } ] }, { "title": "A second mammalian N-myristoyltransferase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Giang DK, Cravatt BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2514859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859" } ], "reference": [ { "type": "PubMed", "id": "9506952", "url": "https://glygen.org/publication/PubMed/9506952" } ] }, { "title": "Arrestin gene mutations in autosomal recessive retinitis pigmentosa.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "1998-04", "authors": "Nakazawa M, Wada Y, Tamai M", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "reference": [ { "type": "PubMed", "id": "9565049", "url": "https://glygen.org/publication/PubMed/9565049" } ] } ], "pathway": [ { "id": "hsa:6295", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6295", "resource": "KEGG Pathway" }, { "id": "R-HSA-2485179", "name": "Activation of the phototransduction cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2485179", "resource": "Reactome", "description": "Activation of the phototransduction cascade" }, { "id": "R-HSA-2514859", "name": "Inactivation, recovery and regulation of the phototransduction cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2514859", "resource": "Reactome", "description": "Inactivation, recovery and regulation of the phototransduction cascade" } ], "orthologs": [ { "uniprot_canonical_ac": "P15887-1", "protein_name": "S-arrestin", "gene_name": "Sag", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAACVKTNKSHVIFKKVSRDKSVTIYLGKRDYIDHVSQVEPVDGVVLVDPELVKGKKVYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAMSAPTQLQLSLLKKLGDNTYPFLLTFPDYLPCSVMLQPAPQDVGKSCGVDFEVKAFATDITDAEEDKIPKKSSVRLLIRKVQHAPPEMGPQPCAEASWQFFMSDKPLHLSVSLSKEIYFHGEPIPVTVTVTNNTEKVVKKIKVSVEQIANVVLYSSDYYVKPVASEETQEKVQPNSTLTKTLVLVPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVMGILVSYHIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESVQDENLVFEEFARQNLKDTGENTEGKKDEDAGQDE", "length": 403 }, "evidence": [ { "id": "45921157", "url": "http://www.informatics.jax.org/homology/45921157", "database": "MGI" }, { "id": "P10523", "url": "https://omabrowser.org/oma/group/P10523/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P20443-1", "protein_name": "S-arrestin", "gene_name": "Sag", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAACGKTNKSHVIFKKVSRDKSVTIYLGKRDYVDHVSQVEPVDGVVLVDPELVKGKKVYVTLTCAFRYGQEDIDVMGLTFRRDLYFSRVQVYPPVGAMSVLTQLQESLLKKLGDNTYPFLLTFPDYLPCSVMLQPAPQDVGKSCGVDFEVKAFASDITDPEEDKIPKKSSVRLLIRKVQHAPPEMGPQPSAEASWQFFMSDKPLNLSVSLSKEIYFHGEPIPVTVTVTNNTDKVVKKIKVSVEQIANVVLYSSDYYVKPVASEETQEKVQPNSTLTKTLVLVPLLANNRERRGIALDGKIKHEDTNLASSTIIKEGIDRTVMGILVSYHIKVKLTVSGFLGELTSSEVATEVPFRLMHPQPEDPAKESVQDENLVFEEFARQNLKDTGENTEGKKDEDAGQDE", "length": 403 }, "evidence": [ { "id": "45921157", "url": "http://www.informatics.jax.org/homology/45921157", "database": "MGI" }, { "id": "P10523", "url": "https://omabrowser.org/oma/group/P10523/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "rhodopsin mediated signaling pathway", "id": "GO:0016056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016056", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "opsin binding", "id": "GO:0002046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002046", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" }, { "name": "protein phosphatase inhibitor activity", "id": "GO:0004864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004864", "evidence": [ { "database": "UniProtKB", "id": "P10523", "url": "https://www.uniprot.org/uniprot/P10523" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 232, "end_pos": 234, "annotation": "n_glycosylation_sequon" }, { "start_pos": 275, "end_pos": 277, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 234 ], "sequon_annotation_sites": [ { "start_pos": 232, "end_pos": 234 }, { "start_pos": 275, "end_pos": 277 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 98 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }