{ "uniprot_canonical_ac": "O75762-1", "uniprot_ac": "O75762", "uniprot_id": "TRPA1_HUMAN", "mass": { "chemical_mass": 127501.0, "monoisotopic_mass": 127501.0 }, "refseq": { "ac": "NP_015628", "name": "transient receptor potential cation channel subfamily A member 1", "summary": "The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, "gene_names": [ { "name": "TRPA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75762", "id": "O75762" }, { "name": "ANKTM1; FEPS; FEPS1; p120", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "id": "NP_015628" }, { "name": "ANKTM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75762", "id": "O75762" }, { "name": "TRPA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "id": "NP_015628" } ], "protein_names": [ { "name": "Transient receptor potential cation channel subfamily A member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75762" }, { "name": "Ankyrin-like with transmembrane domains protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75762" }, { "name": "Transformation-sensitive protein p120", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75762" }, { "name": "Wasabi receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75762" }, { "name": "ankyrin-like with transmembrane domains 1; transformation-sensitive protein p120; wasabi receptor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "id": "NP_015628" }, { "name": "p120", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75762" }, { "name": "transient receptor potential cation channel subfamily A member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "id": "NP_015628" } ], "function": [ { "annotation": "Canine, mouse, and human transient receptor potential ankyrin 1 (TRPA1) channels show different sensitivity to menthol or cold stimulation.", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "37821377", "url": "https://glygen.org/publication/PubMed/37821377" } ] }, { "annotation": "Cellular and molecular target for the pungent action of mustard oils; support an emerging role for TRP channel ANKTM1 as an ionotropic cannabinoid receptor", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "14712238", "url": "https://glygen.org/publication/PubMed/14712238" } ] }, { "annotation": "Functional TRPA1 Channels Regulate CD56[dim]CD16[+] NK Cell Cytotoxicity against Tumor Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "37834182", "url": "https://glygen.org/publication/PubMed/37834182" } ] }, { "annotation": "Functional expression of the thermally activated transient receptor potential channels TRPA1 and TRPM8 in human myotubes.", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "37542841", "url": "https://glygen.org/publication/PubMed/37542841" } ] }, { "annotation": "Receptor-activated non-selective cation channel involved in pain detection and possibly also in cold perception, oxygen concentration perception, cough, itch, and inner ear function (PubMed:21873995, PubMed:23199233, PubMed:25389312, PubMed:25855297). Shows 8-fold preference for divalent over monovalent cations (PubMed:31447178). Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of irritants, such as allylthiocyanate (AITC) from mustard oil or wasabi, cinnamaldehyde, diallyl disulfide (DADS) from garlic, and acrolein, an irritant from tears gas and vehicle exhaust fumes (PubMed:25389312, PubMed:27241698, PubMed:30878828, PubMed:20547126). Acts also as an ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed:25389312). Is activated by a large variety of structurally unrelated electrophilic and non-electrophilic chemical compounds. Electrophilic ligands activate TRPA1 by interacting with critical N-terminal Cys residues in a covalent manner, whereas mechanisms of non-electrophilic ligands are not well determined. May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds. Probably operated by a phosphatidylinositol second messenger system (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762#function" }, { "database": "UniProtKB", "id": "Q8BLA8", "url": "https://www.uniprot.org/uniprot/Q8BLA8#function" }, { "database": "PubMed", "id": "20547126", "url": "https://glygen.org/publication/PubMed/20547126" }, { "database": "PubMed", "id": "25389312", "url": "https://glygen.org/publication/PubMed/25389312" }, { "database": "PubMed", "id": "21873995", "url": "https://glygen.org/publication/PubMed/21873995" }, { "database": "PubMed", "id": "31447178", "url": "https://glygen.org/publication/PubMed/31447178" }, { "database": "PubMed", "id": "27241698", "url": "https://glygen.org/publication/PubMed/27241698" }, { "database": "PubMed", "id": "23199233", "url": "https://glygen.org/publication/PubMed/23199233" }, { "database": "PubMed", "id": "30878828", "url": "https://glygen.org/publication/PubMed/30878828" }, { "database": "PubMed", "id": "25855297", "url": "https://glygen.org/publication/PubMed/25855297" } ] }, { "annotation": "TRPA1 is a novel substrate for the de-ubiquitinating activity of CYLD, and this de-ubiquitination has the net effect of increasing the cellular pool of TRPA1 proteins.", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "16500080", "url": "https://glygen.org/publication/PubMed/16500080" } ] }, { "annotation": "TRPA1: A promising target for pulmonary fibrosis? Review article", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "37777106", "url": "https://glygen.org/publication/PubMed/37777106" } ] }, { "annotation": "The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" } ] }, { "annotation": "[TRPA1 channel mediates oxidative stress defense in cancer].", "evidence": [ { "database": "RefSeq", "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628" }, { "database": "PubMed", "id": "37914327", "url": "https://glygen.org/publication/PubMed/37914327" } ] } ], "disease": [ { "disease_id": "DOID:0111728", "recommended_name": { "id": "DOID:0111728", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111728", "name": "familial episodic pain syndrome", "description": "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion." }, "synonyms": [ { "id": "DOID:0111728", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111728", "name": "FEPS", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "familial episodic pain syndrome with predominantly upper body involvement", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "episodic pain syndrome, familial, type 1", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "FEPS1", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "episodic pain syndrome, familial, 1", "description": "" }, { "id": "MIM:615040", "resource": "MIM", "url": "https://www.omim.org/entry/615040", "name": "Episodic pain syndrome, familial, 1", "description": "Episodic pain syndrome, familial, 1" } ], "evidence": [ { "id": "615040", "database": "MIM", "url": "https://www.omim.org/entry/615040" } ] }, { "disease_id": "DOID:0111729", "recommended_name": { "id": "DOID:0111729", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111729", "name": "familial episodic pain syndrome 1", "description": "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13." }, "synonyms": [ { "id": "DOID:0111729", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111729", "name": "FEPS1", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "familial episodic pain syndrome with predominantly upper body involvement", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "episodic pain syndrome, familial, type 1", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "FEPS1", "description": "" }, { "id": "MONDO:0014021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014021", "name": "episodic pain syndrome, familial, 1", "description": "" }, { "id": "MIM:615040", "resource": "MIM", "url": "https://www.omim.org/entry/615040", "name": "Episodic pain syndrome, familial, 1", "description": "Episodic pain syndrome, familial, 1" } ], "evidence": [ { "id": "615040", "database": "MIM", "url": "https://www.omim.org/entry/615040" } ] } ], "snv": [ { "evidence": [ { "id": "rs1300765767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300765767" }, { "id": "rs1300765767", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300765767" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 101, "end_pos": 101, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTP->NTT).", "chr_id": "8", "chr_pos": "72069166", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75762", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75762" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1084, "end_pos": 1084, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HCS->NCS).", "chr_id": "8", "chr_pos": "72023016", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1084", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1463396370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463396370" }, { "id": "rs1463396370", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463396370#frequency_tab" }, { "id": "rs1463396370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463396370" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1102, "end_pos": 1102, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSR->NST).", "chr_id": "8", "chr_pos": "72022961", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371619206", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371619206" }, { "id": "rs371619206", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371619206#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 111, "end_pos": 111, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "8", "chr_pos": "72069135", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75762", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75762" } ], "glycoeffect": [], "start_pos": 180, "end_pos": 180, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). 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"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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75762" } ], "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", 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"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": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75762" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "common_name": "Human" } ], "gene": [ { "name": "TRPA1", "url": "https://www.uniprot.org/uniprot/O75762", "locus": { "chromosome": "8", "start_pos": 72019917, "end_pos": 72075584, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000104321", "url": "https://www.ensembl.org/id/ENSG00000104321" } ] } } ], "crossref": [ { "id": "ENSG00000104321", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104321", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75762", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75762", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL6007", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL6007", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TRPA1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPA1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8989", "url": "https://www.ncbi.nlm.nih.gov/gene/8989", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "497", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=497", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "H0YAW0", "url": "https://www.ebi.ac.uk/intact/interactors/id:H0YAW0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O75762", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75762*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005821", "database": "InterPro", "categories": [ "Protein 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"PTHR47143", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47143", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47143:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47143:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3J9P", "url": "https://www.rcsb.org/structure/3J9P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6HC8", "url": "https://www.rcsb.org/structure/6HC8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PQO", "url": "https://www.rcsb.org/structure/6PQO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PQP", "url": "https://www.rcsb.org/structure/6PQP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PQQ", "url": "https://www.rcsb.org/structure/6PQQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V9V", "url": "https://www.rcsb.org/structure/6V9V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V9W", "url": "https://www.rcsb.org/structure/6V9W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V9X", "url": "https://www.rcsb.org/structure/6V9X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6V9Y", "url": "https://www.rcsb.org/structure/6V9Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WJ5", "url": "https://www.rcsb.org/structure/6WJ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6X2J", "url": "https://www.rcsb.org/structure/6X2J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7JUP", "url": "https://www.rcsb.org/structure/7JUP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OR0", "url": "https://www.rcsb.org/structure/7OR0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OR1", "url": "https://www.rcsb.org/structure/7OR1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00023", "url": "http://pfam.xfam.org/family/PF00023", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00520", "url": "http://pfam.xfam.org/family/PF00520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12796", "url": "http://pfam.xfam.org/family/PF12796", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75762", "url": "https://pharos.nih.gov/targets/O75762", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75762", "url": "http://purl.obolibrary.org/obo/PR_O75762", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3295583", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3295583", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H0YAW0", "url": "https://www.uniprot.org/uniprot/H0YAW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YAW0-1", "url": "https://www.uniprot.org/uniprot/H0YAW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75762-1", "url": "https://www.uniprot.org/uniprot/O75762-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKRSLRKMWRPGEKKEPQGVVYEDVPDDTEDFKESLKVVFEGSAYGLQNFNKQKKLKRCDDMDTFFLHYAAAEGQIELMEKITRDSSLEVLHEMDDYGNTPLHCAVEKNQIESVKFLLSRGANPNLRNFNMMAPLHIAVQGMNNEVMKVLLEHRTIDVNLEGENGNTAVIIACTTNNSEALQILLKKGAKPCKSNKWGCFPIHQAAFSGSKECMEIILRFGEEHGYSRQLHINFMNNGKATPLHLAVQNGDLEMIKMCLDNGAQIDPVEKGRCTAIHFAATQGATEIVKLMISSYSGSVDIVNTTDGCHETMLHRASLFDHHELADYLISVGADINKIDSEGRSPLILATASASWNIVNLLLSKGAQVDIKDNFGRNFLHLTVQQPYGLKNLRPEFMQMQQIKELVMDEDNDGCTPLHYACRQGGPGSVNNLLGFNVSIHSKSKDKKSPLHFAASYGRINTCQRLLQDISDTRLLNEGDLHGMTPLHLAAKNGHDKVVQLLLKKGALFLSDHNGWTALHHASMGGYTQTMKVILDTNLKCTDRLDEDGNTALHFAAREGHAKAVALLLSHNADIVLNKQQASFLHLALHNKRKEVVLTIIRSKRWDECLKIFSHNSPGNKCPITEMIEYLPECMKVLLDFCMLHSTEDKSCRDYYIEYNFKYLQCPLEFTKKTPTQDVIYEPLTALNAMVQNNRIELLNHPVCKEYLLMKWLAYGFRAHMMNLGSYCLGLIPMTILVVNIKPGMAFNSTGIINETSDHSEILDTTNSYLIKTCMILVFLSSIFGYCKEAGQIFQQKRNYFMDISNVLEWIIYTTGIIFVLPLFVEIPAHLQWQCGAIAVYFYWMNFLLYLQRFENCGIFIVMLEVILKTLLRSTVVFIFLLLAFGLSFYILLNLQDPFSSPLLSIIQTFSMMLGDINYRESFLEPYLRNELAHPVLSFAQLVSFTIFVPIVLMNLLIGLAVGDIAEVQKHASLKRIAMQVELHTSLEKKLPLWFLRKVDQKSTIVYPNKPRSGGMLFHIFCFLFCTGEIRQEIPNADKSLEMEILKQKYRLKDLTFLLEKQHELIKLIIQKMEIISETEDDDSHCSFQDRFKKEQMEQRNSRWNTVLRAVKAKTHHLEP", "length": 1119, "header": "sp|O75762-1|TRPA1_HUMAN Isoform 1 of Transient receptor potential cation channel subfamily A member 1 OS=Homo sapiens OX=9606 GN=TRPA1 PE=1 SV=3 CANONICAL=O75762-1" }, "isoforms": [ { "isoform_ac": "H0YAW0-1", "url": "", "sequence": { "sequence": "VLLEHRTIDVNLEGENGNTAVIIACTTNNSEALQILLKKGAKPCKSNKWGCFPIHQAAFSGSKECMEIILRFGEEHGYSRQLHINFMNNGKATPLHLAVQNGDLEMIKMCLDNGAQIDPVEKGRCTAIHFAATQGATEIVKLMISSYSGSVDIVNTTDGCHETMLHRASLFDHHELADYLISVGADINKIDSEGRSPLILATASASWNIVNLLLSKGAQVDIKDNFGRNFLHLTVQQPYGLKNLRPEFMQMQQIKELVMDEDNDGCTPLHYACRQGGPGSVNNLLGFNVSIHSKSKDKKSPLHFAASYGRINTCQRLLQDISDTRLLNEGDLHGMTPLHLAAKNGHDKVVQLLLKKGALFLSDHNGWTALHHASMGGYTQTMKVILDTNLKCTDRLDEDGNTALHFAAREGHAKAVALLLSHNADIVLNKQQASFLHLALHNKRKEVVLTIIRSKRWDECLKIFSHNSPGNKCPITEMIEYLPECMKVLLDFCMLHSTEDKSCRDYYIEYNFKYLQCPLEFTKKTPTQDVIYEPLTALNAMVQNNRIELLNHPVCKEYLLMKWLAYGFRAHMMNLGSYCLGLIPMTILVVNIKPGMAFNSTGIINETSDHSEILDTTNSYLIKTCMILVFLSSIFGYCKEAGQIFQQKRNYFMDISNVLEWIIYTTGIIFVLPLFVEIPAHLQWQCGAIAVYFYWMNFLLYLQRFENCGIFIVMLEVILKTLLRSTVVFIFLLLAFGLSFYILLNLQDPFSSPLLSIIQTFSMMLGDINYRESFLEPYLRNELAHPVLSFAQLVSFTIFVPIVLMNLLIGLAVGDIAEVQKHASLKRIAMQVELHTSLEKKLPLWFLRKVDQKSTIVYPNKPRSGGMLFHIFCFLFCTGEIRQEIPNADKSLEMEILKQKYRKTTCAFVLTLIPVG", "length": 916, "header": "tr|H0YAW0-1|TRPA1_HUMAN Computationally mapped isoform of Transient receptor potential cation channel subfamily A member 1 OS=Homo sapiens OX=9606 GN=TRPA1 PE=1 SV=1 CANONICAL=O75762-1" }, "locus": { "chromosome": "8", "start_pos": 72065558, "end_pos": 72019981, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523582.5", "url": "https://www.ensembl.org/id/ENST00000523582.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428151.1", "url": "https://www.ensembl.org/id/ENSP00000428151.1" } ] } }, { "isoform_ac": "O75762-1", "url": "", "sequence": { "sequence": "MKRSLRKMWRPGEKKEPQGVVYEDVPDDTEDFKESLKVVFEGSAYGLQNFNKQKKLKRCDDMDTFFLHYAAAEGQIELMEKITRDSSLEVLHEMDDYGNTPLHCAVEKNQIESVKFLLSRGANPNLRNFNMMAPLHIAVQGMNNEVMKVLLEHRTIDVNLEGENGNTAVIIACTTNNSEALQILLKKGAKPCKSNKWGCFPIHQAAFSGSKECMEIILRFGEEHGYSRQLHINFMNNGKATPLHLAVQNGDLEMIKMCLDNGAQIDPVEKGRCTAIHFAATQGATEIVKLMISSYSGSVDIVNTTDGCHETMLHRASLFDHHELADYLISVGADINKIDSEGRSPLILATASASWNIVNLLLSKGAQVDIKDNFGRNFLHLTVQQPYGLKNLRPEFMQMQQIKELVMDEDNDGCTPLHYACRQGGPGSVNNLLGFNVSIHSKSKDKKSPLHFAASYGRINTCQRLLQDISDTRLLNEGDLHGMTPLHLAAKNGHDKVVQLLLKKGALFLSDHNGWTALHHASMGGYTQTMKVILDTNLKCTDRLDEDGNTALHFAAREGHAKAVALLLSHNADIVLNKQQASFLHLALHNKRKEVVLTIIRSKRWDECLKIFSHNSPGNKCPITEMIEYLPECMKVLLDFCMLHSTEDKSCRDYYIEYNFKYLQCPLEFTKKTPTQDVIYEPLTALNAMVQNNRIELLNHPVCKEYLLMKWLAYGFRAHMMNLGSYCLGLIPMTILVVNIKPGMAFNSTGIINETSDHSEILDTTNSYLIKTCMILVFLSSIFGYCKEAGQIFQQKRNYFMDISNVLEWIIYTTGIIFVLPLFVEIPAHLQWQCGAIAVYFYWMNFLLYLQRFENCGIFIVMLEVILKTLLRSTVVFIFLLLAFGLSFYILLNLQDPFSSPLLSIIQTFSMMLGDINYRESFLEPYLRNELAHPVLSFAQLVSFTIFVPIVLMNLLIGLAVGDIAEVQKHASLKRIAMQVELHTSLEKKLPLWFLRKVDQKSTIVYPNKPRSGGMLFHIFCFLFCTGEIRQEIPNADKSLEMEILKQKYRLKDLTFLLEKQHELIKLIIQKMEIISETEDDDSHCSFQDRFKKEQMEQRNSRWNTVLRAVKAKTHHLEP", "length": 1119, "header": "sp|O75762-1|TRPA1_HUMAN Isoform 1 of Transient receptor potential cation channel subfamily A member 1 OS=Homo sapiens OX=9606 GN=TRPA1 PE=1 SV=3 CANONICAL=O75762-1" }, "locus": { "chromosome": "8", "start_pos": 72075409, "end_pos": 72022909, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262209.5", "url": "https://www.ensembl.org/id/ENST00000262209.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000262209.4", "url": "https://www.ensembl.org/id/ENSP00000262209.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 747, "start_aa": "Asn", "end_pos": 747, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn747", "evidence": [ { "id": "O75762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75762#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 753, "start_aa": "Asn", "end_pos": 753, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn753", "evidence": [ { "id": "O75762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75762#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75762" }, { "database": "PubMed", "id": "28500286", "url": "https://glygen.org/publication/PubMed/28500286" } ], "site_lbl": "Ser119" }, { "start_pos": 281, "end_pos": 281, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75762", "url": 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LXXVI. Current progress in the mammalian TRP ion channel family.", "journal": "Pharmacological reviews", "date": "2010", "authors": "Wu LJ, Sweet TB, Clapham DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-3295583", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3295583" } ], "reference": [ { "type": "PubMed", "id": "20716668", "url": "https://glygen.org/publication/PubMed/20716668" } ] }, { "title": "Selective blockade of TRPA1 channel attenuates pathological pain without altering noxious cold sensation or body temperature regulation.", "journal": "Pain", "date": "2011", "authors": "Chen Jun, Joshi Shailen K, DiDomenico Stanley, Perner Richard J, Mikusa Joe P, Gauvin Donna M, Segreti Jason A, Han Ping, Zhang Xu-Feng, Niforatos Wende, Bianchi Bruce R, Baker Scott J, Zhong Chengmin, Simler Gricelda H, McDonald Heath A, Schmidt Robert G, McGaraughty Steve P, Chu Katharine L, Faltynek Connie R, Kort Michael E, Reilly Regina M, Kym Philip R", "evidence": [ { "database": 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mediates the analgesic action of dipyrone and pyrazolone derivatives.", "journal": "British journal of pharmacology", "date": "2015", "authors": "Nassini R, Fusi C, Materazzi S, Coppi E, Tuccinardi T, Marone IM, De Logu F, Preti D, Tonello R, Chiarugi A, Patacchini R, Geppetti P, Benemei S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3295583", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3295583" } ], "reference": [ { "type": "PubMed", "id": "25765567", "url": "https://glygen.org/publication/PubMed/25765567" } ] }, { "title": "Structure of the TRPA1 ion channel suggests regulatory mechanisms.", "journal": "Nature", "date": "2015", "authors": "Paulsen CE, Armache JP, Gao Y, Cheng Y, Julius D", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" }, { "database": "Reactome", "id": "R-HSA-3295583", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3295583" } ], "reference": [ { "type": "PubMed", "id": "25855297", 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"UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 16, "go_terms": [ { "name": "monoatomic ion transport", "id": "GO:0006811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "response to organic substance", "id": "GO:0010033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010033", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "cellular response to organic substance", "id": "GO:0071310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071310", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O75762", "url": "https://www.uniprot.org/uniprot/O75762" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of pain", "id": "GO:0050968", "url": 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