{ "uniprot_canonical_ac": "P09493-1", "uniprot_ac": "P09493", "uniprot_id": "TPM1_HUMAN", "mass": { "chemical_mass": 32709.0, "monoisotopic_mass": 32709.0 }, "refseq": { "ac": "NP_000357", "name": "tropomyosin alpha-1 chain isoform Tpm1.5cy", "summary": "This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, "gene_names": [ { "name": "TPM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09493", "id": "P09493" }, { "name": "C15orf13", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09493", "id": "P09493" }, { "name": "TMSA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09493", "id": "P09493" }, { "name": "hCG_33495", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09493", "id": "P09493" } ], "protein_names": [ { "name": "Tropomyosin alpha-1 chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09493" }, { "name": "Alpha-tropomyosin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09493" }, { "name": "Tropomyosin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09493" }, { "name": "cardiomyopathy, hypertrophic 3; tropomyosin alpha-1 chain; sarcomeric tropomyosin kappa; epididymis secretory protein Li 265", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275", "id": "NP_001317275" }, { "name": "tropomyosin alpha-1 chain isoform 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280", "id": "NP_001317280" }, { "name": "tropomyosin alpha-1 chain isoform Tpm1.13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275", "id": "NP_001317275" }, { "name": "tropomyosin alpha-1 chain isoform Tpm1.5cy", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357", "id": "NP_000357" }, { "name": "tropomyosin alpha-1 chain isoform Tpm1.9cy", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273", "id": "NP_001317273" } ], "function": [ { "annotation": "Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493#function" } ] }, { "annotation": "Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "PubMed", "id": "35243414", "url": "https://glygen.org/publication/PubMed/35243414" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" } ] }, { "annotation": "Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "PubMed", "id": "35029218", "url": "https://glygen.org/publication/PubMed/35029218" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" } ] }, { "annotation": "Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "PubMed", "id": "36555368", "url": "https://glygen.org/publication/PubMed/36555368" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" } ] }, { "annotation": "MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1.", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "PubMed", "id": "35857351", "url": "https://glygen.org/publication/PubMed/35857351" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" } ] }, { "annotation": "This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" } ] } ], "disease": [ { "disease_id": "DOID:0110309", "recommended_name": { "id": "DOID:0110309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110309", "name": "hypertrophic cardiomyopathy 3", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22." }, "synonyms": [ { "id": "DOID:0110309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110309", "name": "CMH3", "description": "" }, { "id": "DOID:0110309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110309", "name": "cardiomyopathy familial hypertrophic 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "hypertrophic cardiomyopathy 3", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "CMH3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "TPM1 hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "cardiomyopathy familial hypertrophic 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "cardiomyopathy, familial hypertrophic, type 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "cardiomyopathy, hypertrophic, 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "hypertrophic cardiomyopathy 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "hypertrophic cardiomyopathy caused by mutation in TPM1", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "hypertrophic cardiomyopathy type 3", "description": "" }, { "id": "MONDO:0007267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007267", "name": "cardiomyopathy, familial hypertrophic, 3", "description": "" }, { "id": "MIM:115196", "resource": "MIM", "url": "https://www.omim.org/entry/115196", "name": "Cardiomyopathy, familial hypertrophic, 3", "description": "Cardiomyopathy, familial hypertrophic, 3" } ], "evidence": [ { "id": "115196", "database": "MIM", "url": "https://www.omim.org/entry/115196" } ] }, { "disease_id": "DOID:0110457", "recommended_name": { "id": "DOID:0110457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110457", "name": "dilated cardiomyopathy 1Y", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1." }, "synonyms": [ { "id": "DOID:0110457", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110457", "name": "CMD1Y", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "dilated cardiomyopathy 1Y", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene." }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "CMD1Y", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "TPM1 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "cardiomyopathy, dilated, type 1Y", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "dilated cardiomyopathy type 1Y", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "familial isolated dilated cardiomyopathy caused by mutation in TPM1", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "cardiomyopathy, dilated, 1Y", "description": "" }, { "id": "MONDO:0012744", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012744", "name": "left ventricular noncompaction 9", "description": "" }, { "id": "MIM:611878", "resource": "MIM", "url": "https://www.omim.org/entry/611878", "name": "Cardiomyopathy, dilated, 1Y", "description": "Cardiomyopathy, dilated, 1Y" } ], "evidence": [ { "id": "611878", "database": "MIM", "url": "https://www.omim.org/entry/611878" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 15, "end_pos": 15, "sequence_org": "K", "sequence_mut": "N", "comment": "Impairs interaction with LMOD2 and TMOD1.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "PubMed", "id": "26873245", "url": "https://glygen.org/publication/PubMed/26873245" } ] }, { "start_pos": 283, "end_pos": 283, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation and decreased formation of actin stress fibers.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ] }, { "start_pos": 283, "end_pos": 283, "sequence_org": "S", "sequence_mut": "E", "comment": "Increased formation of actin stress fibers.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "96.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "P09493", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09493" } ], "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": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "common_name": "Human" } ], "gene": [ { "name": "TPM1", "url": "https://www.uniprot.org/uniprot/P09493", "locus": { "chromosome": "15", "start_pos": 63071915, "end_pos": 63042632, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000140416", "url": "https://www.ensembl.org/id/ENSG00000140416" } ] } } ], "crossref": [ { "id": "ENSG00000140416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140416", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL4295705", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295705", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TPM1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPM1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "7168", "url": "https://www.ncbi.nlm.nih.gov/gene/7168", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12010", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12010", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "F5H7S3", "url": "https://www.ebi.ac.uk/intact/interactors/id:F5H7S3*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "H0YK48", "url": "https://www.ebi.ac.uk/intact/interactors/id:H0YK48*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P09493", "url": "https://www.ebi.ac.uk/intact/interactors/id:P09493*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000533", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000533", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014751", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014751", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7168", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7168", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "115196", "url": "http://www.omim.org/entry/115196", "database": "MIM", "categories": [ "Other" ] }, { "id": "191010", "url": "http://www.omim.org/entry/191010", "database": "MIM", "categories": [ "Other" ] }, { "id": "611878", "url": "http://www.omim.org/entry/611878", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P09493", "url": "https://www.nextprot.org/entry/NX_P09493", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "P09493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "DESFRMC", "url": "https://omabrowser.org/oma/group/DESFRMC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398117at2759", "url": "http://www.orthodb.org/?query=5398117at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269:SF41", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269:SF41", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269:SF45", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269:SF45", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR19269:SF74", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR19269:SF74", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3MUD", "url": "https://www.rcsb.org/structure/3MUD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5KHT", "url": "https://www.rcsb.org/structure/5KHT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6UT2", "url": "https://www.rcsb.org/structure/6UT2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6X5Z", "url": "https://www.rcsb.org/structure/6X5Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UTI", "url": "https://www.rcsb.org/structure/7UTI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UTL", "url": "https://www.rcsb.org/structure/7UTL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EFH", "url": "https://www.rcsb.org/structure/8EFH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8EFI", "url": "https://www.rcsb.org/structure/8EFI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ENC", "url": "https://www.rcsb.org/structure/8ENC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00261", "url": "http://pfam.xfam.org/family/PF00261", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12718", "url": "http://pfam.xfam.org/family/PF12718", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P09493", "url": "https://pharos.nih.gov/targets/P09493", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P09493", "url": "http://purl.obolibrary.org/obo/PR_P09493", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WTJ7", "url": "https://www.uniprot.org/uniprot/A0A087WTJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WTJ7-1", "url": "https://www.uniprot.org/uniprot/A0A087WTJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0S2Z4G6", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4G6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0S2Z4G6-1", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4G6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494BZZ2", "url": "https://www.uniprot.org/uniprot/A0A494BZZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494BZZ2-1", "url": "https://www.uniprot.org/uniprot/A0A494BZZ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0I0", "url": "https://www.uniprot.org/uniprot/A0A494C0I0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0I0-1", "url": "https://www.uniprot.org/uniprot/A0A494C0I0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0V8", "url": "https://www.uniprot.org/uniprot/A0A494C0V8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0V8-1", "url": "https://www.uniprot.org/uniprot/A0A494C0V8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J554", "url": "https://www.uniprot.org/uniprot/A0A994J554", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J554-1", "url": "https://www.uniprot.org/uniprot/A0A994J554-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z596", "url": "https://www.uniprot.org/uniprot/B7Z596", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z596-1", "url": "https://www.uniprot.org/uniprot/B7Z596-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7S3", "url": "https://www.uniprot.org/uniprot/F5H7S3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H7S3-1", "url": "https://www.uniprot.org/uniprot/F5H7S3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK48", "url": "https://www.uniprot.org/uniprot/H0YK48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YK48-1", "url": "https://www.uniprot.org/uniprot/H0YK48-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKJ4", "url": "https://www.uniprot.org/uniprot/H0YKJ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKJ4-1", "url": "https://www.uniprot.org/uniprot/H0YKJ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKP3", "url": "https://www.uniprot.org/uniprot/H0YKP3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKP3-1", "url": "https://www.uniprot.org/uniprot/H0YKP3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKX5", "url": "https://www.uniprot.org/uniprot/H0YKX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YKX5-1", "url": "https://www.uniprot.org/uniprot/H0YKX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL42", "url": "https://www.uniprot.org/uniprot/H0YL42", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL42-1", "url": "https://www.uniprot.org/uniprot/H0YL42-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL80", "url": "https://www.uniprot.org/uniprot/H0YL80", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YL80-1", "url": "https://www.uniprot.org/uniprot/H0YL80-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLS7", "url": "https://www.uniprot.org/uniprot/H0YLS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YLS7-1", "url": "https://www.uniprot.org/uniprot/H0YLS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YN06", "url": "https://www.uniprot.org/uniprot/H0YN06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YN06-1", "url": "https://www.uniprot.org/uniprot/H0YN06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYY1", "url": "https://www.uniprot.org/uniprot/H7BYY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BYY1-1", "url": "https://www.uniprot.org/uniprot/H7BYY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-1", "url": "https://www.uniprot.org/uniprot/P09493-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-10", "url": "https://www.uniprot.org/uniprot/P09493-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-2", "url": "https://www.uniprot.org/uniprot/P09493-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-3", "url": "https://www.uniprot.org/uniprot/P09493-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-4", "url": "https://www.uniprot.org/uniprot/P09493-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-5", "url": "https://www.uniprot.org/uniprot/P09493-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-6", "url": "https://www.uniprot.org/uniprot/P09493-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-7", "url": "https://www.uniprot.org/uniprot/P09493-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-8", "url": "https://www.uniprot.org/uniprot/P09493-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09493-9", "url": "https://www.uniprot.org/uniprot/P09493-9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZN40", "url": "https://www.uniprot.org/uniprot/Q6ZN40", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZN40-1", "url": "https://www.uniprot.org/uniprot/Q6ZN40-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284, "header": "sp|P09493-1|TPM1_HUMAN Isoform 1 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "isoforms": [ { "isoform_ac": "A0A087WTJ7-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDVSARSHCFPHLLPAWPLRGHHRAGEQ", "length": 106, "header": "tr|A0A087WTJ7-1|A0A087WTJ7_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63044230, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610733.1", "url": "https://www.ensembl.org/id/ENST00000610733.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000477929.1", "url": "https://www.ensembl.org/id/ENSP00000477929.1" } ] } }, { "isoform_ac": "A0A0S2Z4G6-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM", "length": 284, "header": "tr|A0A0S2Z4G6-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63064143, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560970.6", "url": "https://www.ensembl.org/id/ENST00000560970.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000453062.2", "url": "https://www.ensembl.org/id/ENSP00000453062.2" } ] } }, { "isoform_ac": "A0A494BZZ2-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS", "length": 251, "header": "tr|A0A494BZZ2-1|A0A494BZZ2_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63065984, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651590.1", "url": "https://www.ensembl.org/id/ENST00000651590.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498284.1", "url": "https://www.ensembl.org/id/ENSP00000498284.1" } ] } }, { "isoform_ac": "A0A494C0I0-1", "url": "", "sequence": { "sequence": "XEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM", "length": 62, "header": "tr|A0A494C0I0-1|A0A494C0I0_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63064145, "end_pos": 63062244, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651622.1", "url": "https://www.ensembl.org/id/ENST00000651622.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498540.1", "url": "https://www.ensembl.org/id/ENSP00000498540.1" } ] } }, { "isoform_ac": "A0A494C0V8-1", "url": "", "sequence": { "sequence": "MKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED", "length": 155, "header": "tr|A0A494C0V8-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63069940, "end_pos": 63059567, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651704.1", "url": "https://www.ensembl.org/id/ENST00000651704.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498562.1", "url": "https://www.ensembl.org/id/ENSP00000498562.1" } ] } }, { "isoform_ac": "A0A994J554-1", "url": "", "sequence": { "sequence": "XLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 180, "header": "tr|A0A994J554-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63065897, "end_pos": 63057058, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000705544.1", "url": "https://www.ensembl.org/id/ENST00000705544.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516139.1", "url": "https://www.ensembl.org/id/ENSP00000516139.1" } ] } }, { "isoform_ac": "B7Z596-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPGKTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS", "length": 275, "header": "tr|B7Z596-1|B7Z596_HUMAN Computationally mapped isoform of cDNA FLJ55130, highly similar to Rattus norvegicus tropomyosin 1, alpha (Tpm1), transcript variant 8, mRNA OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63062806, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560959.5", "url": "https://www.ensembl.org/id/ENST00000560959.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453724.1", "url": "https://www.ensembl.org/id/ENSP00000453724.1" } ] } }, { "isoform_ac": "F5H7S3-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED", "length": 245, "header": "tr|F5H7S3-1|F5H7S3_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63069940, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317516.12", "url": "https://www.ensembl.org/id/ENST00000317516.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000322577.7", "url": "https://www.ensembl.org/id/ENSP00000322577.7" } ] } }, { "isoform_ac": "H0YK48-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 248, "header": "tr|H0YK48-1|H0YK48_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63065896, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559281.6", "url": "https://www.ensembl.org/id/ENST00000559281.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000452658.1", "url": "https://www.ensembl.org/id/ENSP00000452658.1" } ] } }, { "isoform_ac": "H0YKJ4-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM", "length": 248, "header": "tr|H0YKJ4-1|H0YKJ4_HUMAN Computationally mapped isoform of Tropomyosin 1 (Alpha), isoform CRA_b OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63064143, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558910.3", "url": "https://www.ensembl.org/id/ENST00000558910.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000452830.2", "url": "https://www.ensembl.org/id/ENSP00000452830.2" } ] } }, { "isoform_ac": "H0YKP3-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERWPVSWSSLRATWNVQRSGLSSQKAKSDSWKNN", "length": 157, "header": "tr|H0YKP3-1|H0YKP3_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63061223, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558347.5", "url": "https://www.ensembl.org/id/ENST00000558347.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452887.1", "url": "https://www.ensembl.org/id/ENSP00000452887.1" } ] } }, { "isoform_ac": "H0YKX5-1", "url": "", "sequence": { "sequence": "KATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKQMCRA", "length": 142, "header": "tr|H0YKX5-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63061727, "end_pos": 63044141, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559831.5", "url": "https://www.ensembl.org/id/ENST00000559831.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452977.1", "url": "https://www.ensembl.org/id/ENSP00000452977.1" } ] } }, { "isoform_ac": "H0YL42-1", "url": "", "sequence": { "sequence": "MKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKE", "length": 108, "header": "tr|H0YL42-1|H0YL42_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63062277, "end_pos": 63059567, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000560615.5", "url": "https://www.ensembl.org/id/ENST00000560615.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453050.1", "url": "https://www.ensembl.org/id/ENSP00000453050.1" } ] } }, { "isoform_ac": "H0YL80-1", "url": "", "sequence": { "sequence": "LNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEQMCRA", "length": 68, "header": "tr|H0YL80-1|H0YL80_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63061727, "end_pos": 63057006, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561395.5", "url": "https://www.ensembl.org/id/ENST00000561395.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453092.1", "url": "https://www.ensembl.org/id/ENSP00000453092.1" } ] } }, { "isoform_ac": "H0YLS7-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQWT", "length": 40, "header": "tr|H0YLS7-1|H0YLS7_HUMAN Computationally mapped isoform of Tropomyosin 1 OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63043474, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561425.5", "url": "https://www.ensembl.org/id/ENST00000561425.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453324.1", "url": "https://www.ensembl.org/id/ENSP00000453324.1" } ] } }, { "isoform_ac": "H0YN06-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETRHESH", "length": 49, "header": "tr|H0YN06-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63059577, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558544.5", "url": "https://www.ensembl.org/id/ENST00000558544.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453817.1", "url": "https://www.ensembl.org/id/ENSP00000453817.1" } ] } }, { "isoform_ac": "H7BYY1-1", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 248, "header": "tr|H7BYY1-1|TPM1_HUMAN Computationally mapped isoform of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404484.9", "url": "https://www.ensembl.org/id/ENST00000404484.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000384315.4", "url": "https://www.ensembl.org/id/ENSP00000384315.4" } ] } }, { "isoform_ac": "P09493-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284, "header": "sp|P09493-1|TPM1_HUMAN Isoform 1 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63065896, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403994.9", "url": "https://www.ensembl.org/id/ENST00000403994.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000385107.4", "url": "https://www.ensembl.org/id/ENSP00000385107.4" } ] } }, { "isoform_ac": "P09493-10", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM", "length": 284, "header": "sp|P09493-10|TPM1_HUMAN Isoform 10 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63064143, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000288398.10", "url": "https://www.ensembl.org/id/ENST00000288398.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000288398.6", "url": "https://www.ensembl.org/id/ENSP00000288398.6" } ] } }, { "isoform_ac": "P09493-2", "url": "", "sequence": { "sequence": "MCRLRIFLRTASSEHLHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDSDLESINAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 228, "header": "sp|P09493-2|TPM1_HUMAN Isoform 2 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": {} }, { "isoform_ac": "P09493-3", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 284, "header": "sp|P09493-3|TPM1_HUMAN Isoform 3 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358278.7", "url": "https://www.ensembl.org/id/ENST00000358278.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000351022.3", "url": "https://www.ensembl.org/id/ENSP00000351022.3" } ] } }, { "isoform_ac": "P09493-4", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284, "header": "sp|P09493-4|TPM1_HUMAN Isoform 4 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": {} }, { "isoform_ac": "P09493-5", "url": "", "sequence": { "sequence": "MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED", "length": 245, "header": "sp|P09493-5|TPM1_HUMAN Isoform 5 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63069940, "end_pos": 63048576, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334895.10", "url": "https://www.ensembl.org/id/ENST00000334895.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000334624.4", "url": "https://www.ensembl.org/id/ENSP00000334624.4" } ] } }, { "isoform_ac": "P09493-6", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAKAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284, "header": "sp|P09493-6|TPM1_HUMAN Isoform 6 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63065896, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561266.6", "url": "https://www.ensembl.org/id/ENST00000561266.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000453955.2", "url": "https://www.ensembl.org/id/ENSP00000453955.2" } ] } }, { "isoform_ac": "P09493-7", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAKAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 284, "header": "sp|P09493-7|TPM1_HUMAN Isoform 7 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000267996.11", "url": "https://www.ensembl.org/id/ENST00000267996.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000267996.7", "url": "https://www.ensembl.org/id/ENSP00000267996.7" } ] } }, { "isoform_ac": "P09493-8", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAKAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 284, "header": "sp|P09493-8|TPM1_HUMAN Isoform 8 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559397.6", "url": "https://www.ensembl.org/id/ENST00000559397.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000452879.1", "url": "https://www.ensembl.org/id/ENSP00000452879.1" } ] } }, { "isoform_ac": "P09493-9", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 284, "header": "sp|P09493-9|TPM1_HUMAN Isoform 9 of Tropomyosin alpha-1 chain OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=2 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000559556.5", "url": "https://www.ensembl.org/id/ENST00000559556.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000453941.1", "url": "https://www.ensembl.org/id/ENSP00000453941.1" } ] } }, { "isoform_ac": "Q6ZN40-1", "url": "", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAKLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM", "length": 326, "header": "tr|Q6ZN40-1|Q6ZN40_HUMAN Computationally mapped isoform of Tropomyosin 1 (Alpha), isoform CRA_f OS=Homo sapiens OX=9606 GN=TPM1 PE=1 SV=1 CANONICAL=P09493-1" }, "locus": { "chromosome": "15", "start_pos": 63071169, "end_pos": 63042830, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357980.9", "url": "https://www.ensembl.org/id/ENST00000357980.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000350667.4", "url": "https://www.ensembl.org/id/ENSP00000350667.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P09493", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "23271734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23271734" } ] } ], "phosphorylation": [ { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" } ], "site_lbl": "Ser174" }, { "start_pos": 186, "end_pos": 186, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Ser186" }, { "start_pos": 206, "end_pos": 206, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Ser206" }, { "start_pos": 252, "end_pos": 252, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Ser252" }, { "start_pos": 261, "end_pos": 261, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Tyr261" }, { "start_pos": 271, "end_pos": 271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Ser271" }, { "start_pos": 283, "end_pos": 283, "kinase_uniprot_canonical_ac": "P53355-1", "kinase_gene_name": "DAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" }, { "database": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ], "site_lbl": "Ser283" }, { "start_pos": 283, "end_pos": 283, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by DAPK1", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" }, { "database": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ], "site_lbl": "Ser283" }, { "start_pos": 45, "end_pos": 45, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "site_lbl": "Ser45" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "P42336-1", "kinase_gene_name": "PIK3CA", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P09493", "url": "http://phospho.elm.eu.org/byAccession/P09493.html" }, { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" }, { "database": "PubMed", "id": "16094730", "url": "https://glygen.org/publication/PubMed/16094730" } ], "site_lbl": "Ser61" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Regulation of contraction in striated muscle.", "journal": "Physiological reviews", "date": "2000", "authors": "Gordon AM, Homsher E, Regnier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-390522", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522" } ], "reference": [ { "type": "PubMed", "id": "10747208", "url": "https://glygen.org/publication/PubMed/10747208" } ] }, { "title": "Mibefradil block of cloned T-type calcium channels.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2000", "authors": "Martin RL, Lee JH, Cribbs LL, Perez-Reyes E, Hanck DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "10991994", "url": "https://glygen.org/publication/PubMed/10991994" } ] }, { "title": "NO-independent regulatory site on soluble guanylate cyclase.", "journal": "Nature", "date": "2001", "authors": "Stasch JP, Becker EM, Alonso-Alija C, Apeler H, Dembowsky K, Feurer A, Gerzer R, Minuth T, Perzborn E, Pleiss U, Schroder H, Schroeder W, Stahl E, Steinke W, Straub A, Schramm M", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11242081", "url": "https://glygen.org/publication/PubMed/11242081" } ] }, { "title": "Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.", "journal": "J. Mol. Cell. Cardiol.", "date": "2001", "authors": "Olson TM, Kishimoto NY, Whitby FG, Michels VV", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "11273725", "url": "https://glygen.org/publication/PubMed/11273725" } ] }, { "title": "Invited review: cross-bridge regulation by thin filament-associated proteins.", "journal": "Journal of applied physiology (Bethesda, Md. : 1985)", "date": "2001", "authors": "Morgan KG, Gangopadhyay SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11457814", "url": "https://glygen.org/publication/PubMed/11457814" } ] }, { "title": "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.", "journal": "Human molecular genetics", "date": "2001", "authors": "Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11532985", "url": "https://glygen.org/publication/PubMed/11532985" } ] }, { "title": "Cluster analysis of an extensive human breast cancer cell line protein expression map database.", "journal": "Proteomics", "date": "2002", "authors": "Harris RA, Yang A, Stein RC, Lucy K, Brusten L, Herath A, Parekh R, Waterfield MD, O'Hare MJ, Neville MA, Page MJ, Zvelebil MJ", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "11840567", "url": "https://glygen.org/publication/PubMed/11840567" } ] }, { "title": "Functional and biochemical analysis of endothelial (dys)function and NO/cGMP signaling in human blood vessels with and without nitroglycerin pretreatment.", "journal": "Circulation", "date": "2002", "authors": "Schulz E, Tsilimingas N, Rinze R, Reiter B, Wendt M, Oelze M, Woelken-Weckmuller S, Walter U, Reichenspurner H, Meinertz T, Munzel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "11889009", "url": "https://glygen.org/publication/PubMed/11889009" } ] }, { "title": "Identification of the enzymatic mechanism of nitroglycerin bioactivation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Chen Z, Zhang J, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "12048254", "url": "https://glygen.org/publication/PubMed/12048254" } ] }, { "title": "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.", "journal": "Clin. Genet.", "date": "2003", "authors": "Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "12974739", "url": "https://glygen.org/publication/PubMed/12974739" } ] }, { "title": "Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14506282", "url": "https://glygen.org/publication/PubMed/14506282" } ] }, { "title": "Smooth muscle contraction and relaxation.", "journal": "Advances in physiology education", "date": "2003", "authors": "Webb RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "14627618", "url": "https://glygen.org/publication/PubMed/14627618" } ] }, { "title": "Expression of a novel cardiac-specific tropomyosin isoform in humans.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2004", "authors": "Denz C.R., Dube D.K., Narshi A., Zajdel R.W.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "15249230", "url": "https://glygen.org/publication/PubMed/15249230" } ] }, { "title": "Contribution of aldehyde dehydrogenase to mitochondrial bioactivation of nitroglycerin: evidence for the activation of purified soluble guanylate cyclase through direct formation of nitric oxide.", "journal": "The Biochemical journal", "date": "2005", "authors": "Kollau A, Hofer A, Russwurm M, Koesling D, Keung WM, Schmidt K, Brunner F, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "15377279", "url": "https://glygen.org/publication/PubMed/15377279" } ] }, { "title": "Human platelet myosin light chain kinase requires the calcium-binding protein calmodulin for activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Hathaway DR, Adelstein RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "156362", "url": "https://glygen.org/publication/PubMed/156362" } ] }, { "title": "Protein kinase activity of phosphoinositide 3-kinase regulates beta-adrenergic receptor endocytosis.", "journal": "Nature cell biology", "date": "2005", "authors": "Naga Prasad SV, Jayatilleke A, Madamanchi A, Rockman HA", "evidence": [ { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" } ], "reference": [ { "type": "PubMed", "id": "16094730", "url": "https://glygen.org/publication/PubMed/16094730" } ] }, { "title": "Bioactivation of nitroglycerin by the mitochondrial aldehyde dehydrogenase.", "journal": "Trends in cardiovascular medicine", "date": "2006", "authors": "Chen Z, Stamler JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "17055381", "url": "https://glygen.org/publication/PubMed/17055381" } ] }, { "title": "DAP kinase mediates the phosphorylation of tropomyosin-1 downstream of the ERK pathway, which regulates the formation of stress fibers in response to oxidative stress.", "journal": "J. Cell Sci.", "date": "2007", "authors": "Houle F, Poirier A, Dumaresq J, Huot J", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" } ], "reference": [ { "type": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ] }, { "title": "Molecular pharmacology of human Cav3.2 T-type Ca2+ channels: block by antihypertensives, antiarrhythmics, and their analogs.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2009", "authors": "Perez-Reyes E, Van Deusen AL, Vitko I", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "18974361", "url": "https://glygen.org/publication/PubMed/18974361" } ] }, { "title": "The molecular anatomy of caldesmon.", "journal": "The Biochemical journal", "date": "1991", "authors": "Marston SB, Redwood CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "1930128", "url": "https://glygen.org/publication/PubMed/1930128" } ] }, { "title": "Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M, Takeshima H, Ma J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "19380584", "url": "https://glygen.org/publication/PubMed/19380584" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "UniProtKB", "id": "H0YL42", "url": "https://www.uniprot.org/uniprot/H0YL42" }, { "database": "UniProtKB", "id": "F5H7S3", "url": "https://www.uniprot.org/uniprot/F5H7S3" }, { "database": "UniProtKB", "id": "B7Z596", "url": "https://www.uniprot.org/uniprot/B7Z596" }, { "database": "UniProtKB", "id": "H7BYY1", "url": "https://www.uniprot.org/uniprot/H7BYY1" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.", "journal": "Circ. Cardiovasc. Genet.", "date": "2011", "authors": "Probst S, Oechslin E, Schuler P, Greutmann M, Boye P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "21551322", "url": "https://glygen.org/publication/PubMed/21551322" } ] }, { "title": "In vivo imaging of molecular interactions at damaged sarcolemma.", "journal": "Developmental cell", "date": "2012", "authors": "Roostalu U, Strahle U", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22421042", "url": "https://glygen.org/publication/PubMed/22421042" } ] }, { "title": "Cinaciguat, a soluble guanylate cyclase activator, unloads the heart but also causes hypotension in acute decompensated heart failure.", "journal": "European heart journal", "date": "2013", "authors": "Erdmann E, Semigran MJ, Nieminen MS, Gheorghiade M, Agrawal R, Mitrovic V, Mebazaa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "22778174", "url": "https://glygen.org/publication/PubMed/22778174" } ] }, { "title": "alpha-Tropomyosin with a D175N or E180G mutation in only one chain differs from tropomyosin with mutations in both chains.", "journal": "Biochemistry", "date": "2012", "authors": "Janco M, Kalyva A, Scellini B, Piroddi N, Tesi C, Poggesi C, Geeves MA", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "23170982", "url": "https://glygen.org/publication/PubMed/23170982" } ] }, { "title": "Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493" } ], "reference": [ { "type": "PubMed", "id": "23271734", "url": "https://glygen.org/publication/PubMed/23271734" } ] }, { "title": "Low threshold T-type calcium channels as targets for novel epilepsy treatments.", "journal": "British journal of clinical pharmacology", "date": "2014", "authors": "Powell KL, Cain SM, Snutch TP, O'Brien TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "23834404", "url": "https://glygen.org/publication/PubMed/23834404" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "iPTMnet", "id": "P09493", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09493" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Calcium channel blockers in cardiovascular pharmacotherapy.", "journal": "Journal of cardiovascular pharmacology and therapeutics", "date": "2014", "authors": "Godfraind T", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "24872348", "url": "https://glygen.org/publication/PubMed/24872348" } ] }, { "title": "Characterization and differential expression of human vascular smooth muscle myosin light chain 2 isoform in nonmuscle cells.", "journal": "Biochemistry", "date": "1989", "authors": "Kumar CC, Mohan SR, Zavodny PJ, Narula SK, Leibowitz PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2526655", "url": "https://glygen.org/publication/PubMed/2526655" } ] }, { "title": "The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential.", "journal": "Pharmacological reviews", "date": "2015", "authors": "Zamponi GW, Striessnig J, Koschak A, Dolphin AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "26362469", "url": "https://glygen.org/publication/PubMed/26362469" } ] }, { "title": "Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.", "journal": "Cell", "date": "2016", "authors": "Yang X., Yi S., Tam S., Yang F., Vidal M., Richardson A., Xia Y., Zhong Q., Hill D.E., Sun S., Calderwood M.A., Ghamsari L., Hao T., Iakoucheva L.M., Kang S., Roth F.P., Salehi-Ashtiani K., Chen A., Aloy P., Tan G., Andrews B., Murray R., Boone C., Costanzo M., Zhou X.J., Balcha D., Begg B.E., Charloteaux B., Coulombe-Huntington J., Duran-Frigola M., MacWilliams A., Pevzner S.J., Rodriguez M.D., Sahni N., Shen Y.A., Sheynkman G.M., Spirohn K., Trigg S.A.", "evidence": [ { "database": "UniProtKB", "id": "A0A0S2Z4G6", "url": "https://www.uniprot.org/uniprot/A0A0S2Z4G6" } ], "reference": [ { "type": "PubMed", "id": "26871637", "url": "https://glygen.org/publication/PubMed/26871637" } ] }, { "title": "Localization of the binding interface between leiomodin-2 and alpha-tropomyosin.", "journal": "Biochim. Biophys. Acta", "date": "2016", "authors": "Colpan M, Tolkatchev D, Grover S, Helms GL, Cort JR, Moroz N, Kostyukova AS", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "26873245", "url": "https://glygen.org/publication/PubMed/26873245" } ] }, { "title": "The distribution of heavy-chain isoforms of myosin in airways smooth muscle from adult and neonate humans.", "journal": "The Biochemical journal", "date": "1989", "authors": "Mohammad MA, Sparrow MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "2764880", "url": "https://glygen.org/publication/PubMed/2764880" } ] }, { "title": "Formation of Nitric Oxide by Aldehyde Dehydrogenase-2 Is Necessary and Sufficient for Vascular Bioactivation of Nitroglycerin.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Opelt M, Eroglu E, Waldeck-Weiermair M, Russwurm M, Koesling D, Malli R, Graier WF, Fassett JT, Schrammel A, Mayer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "27679490", "url": "https://glygen.org/publication/PubMed/27679490" } ] }, { "title": "Direct comparison of tadalafil with sildenafil for the treatment of erectile dysfunction: a systematic review and meta-analysis.", "journal": "International urology and nephrology", "date": "2017", "authors": "Gong B, Ma M, Xie W, Yang X, Huang Y, Sun T, Luo Y, Huang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "28741090", "url": "https://glygen.org/publication/PubMed/28741090" } ] }, { "title": "Evolution of tropomyosin functional domains: differential splicing and genomic constraints.", "journal": "J. Mol. Evol.", "date": "1988", "authors": "Marti J., Ferraz C., Bonhomme F., Colote S., Liautard J.-P., Widada J.S.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "3138425", "url": "https://glygen.org/publication/PubMed/3138425" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Cloning and characterization of a cDNA encoding transformation-sensitive tropomyosin isoform 3 from tumorigenic human fibroblasts.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "Leavitt J., Lin C.-S.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "3336357", "url": "https://glygen.org/publication/PubMed/3336357" } ] }, { "title": "Human hTM alpha gene: expression in muscle and nonmuscle tissue.", "journal": "Mol. Cell. Biol.", "date": "1988", "authors": "McLeod A.R., Gooding C.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "3336363", "url": "https://glygen.org/publication/PubMed/3336363" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.", "journal": "Medicine", "date": "2022", "authors": "Man Y, Yi C, Fan M, Yang T, Liu P, Liu S, Wang G", "evidence": [ { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" } ], "reference": [ { "type": "PubMed", "id": "35029218", "url": "https://glygen.org/publication/PubMed/35029218" } ] }, { "title": "Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.", "journal": "Cell reports. Medicine", "date": "2022", "authors": "Teekakirikul P, Zhu W, Xu X, Young CB, Tan T, Smith AM, Wang C, Peterson KA, Gabriel GC, Ho S, Sheng Y, Moreau de Bellaing A, Sonnenberg DA, Lin JH, Fotiou E, Tenin G, Wang MX, Wu YL, Feinstein T, Devine W, Gou H, Bais AS, Glennon BJ, Zahid M, Wong TC, Ahmad F, Rynkiewicz MJ, Lehman WJ, Keavney B, Alastalo TP, Freckmann ML, Orwig K, Murray S, Ware SM, Zhao H, Feingold B, Lo CW", "evidence": [ { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" }, { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" } ], "reference": [ { "type": "PubMed", "id": "35243414", "url": "https://glygen.org/publication/PubMed/35243414" } ] }, { "title": "Relation of streptococcal M protein with human and rabbit tropomyosin: the complete amino acid sequence of human cardiac alpha tropomyosin, a highly conserved contractile protein.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1987", "authors": "Mische SM, Manjula BN, Fischetti VA", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "3548719", "url": "https://glygen.org/publication/PubMed/3548719" } ] }, { "title": "MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1.", "journal": "Molecular cancer research : MCR", "date": "2022-11-03", "authors": "Li Chenyao, Hong Sen, Hu Han, Liu Tao, Yan Guoqiang, Sun Di", "evidence": [ { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" }, { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" } ], "reference": [ { "type": "PubMed", "id": "35857351", "url": "https://glygen.org/publication/PubMed/35857351" } ] }, { "title": "Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin.", "journal": "International journal of molecular sciences", "date": "2022-12-11", "authors": "Nefedova Victoria V, Kopylova Galina V, Shchepkin Daniil V, Kochurova Anastasia M, Kechko Olga I, Borzova Vera A, Ryabkova Natalia S, Katrukha Ivan A, Mitkevich Vladimir A, Bershitsky Sergey Y, Levitsky Dmitrii I, Matyushenko Alexander M", "evidence": [ { "database": "RefSeq", "id": "NP_001317275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317275" }, { "database": "RefSeq", "id": "NP_001317273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317273" }, { "database": "RefSeq", "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357" }, { "database": "RefSeq", "id": "NP_001317280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317280" } ], "reference": [ { "type": "PubMed", "id": "36555368", "url": "https://glygen.org/publication/PubMed/36555368" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P09493", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P09493" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Isoforms of myosin and actin in human, monkey and rat myometrium. Comparison of pregnant and non-pregnant uterus proteins.", "journal": "European journal of biochemistry", "date": "1986", "authors": "Cavaille F, Janmot C, Ropert S, d'Albis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "3780718", "url": "https://glygen.org/publication/PubMed/3780718" } ] }, { "title": "Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.", "journal": "N. Engl. J. Med.", "date": "1995", "authors": "Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, et al.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "7898523", "url": "https://glygen.org/publication/PubMed/7898523" } ] }, { "title": "Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.", "journal": "Cell", "date": "1994", "authors": "Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "8205619", "url": "https://glygen.org/publication/PubMed/8205619" } ] }, { "title": "Autoimmunity to cytoskeletal protein tropomyosin. A clue to the pathogenetic mechanism for ulcerative colitis.", "journal": "J. Immunol.", "date": "1993", "authors": "Mandal A., Dasgupta A., Geng X., Das K.M.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "8450225", "url": "https://glygen.org/publication/PubMed/8450225" } ] }, { "title": "Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.", "journal": "J. Mol. Cell. Cardiol.", "date": "1995", "authors": "Nakajima-Taniguchi C, Matsui H, Nagata S, Kishimoto T, Yamauchi-Takihara K", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "8523464", "url": "https://glygen.org/publication/PubMed/8523464" } ] }, { "title": "Sildenafil: an orally active type 5 cyclic GMP-specific phosphodiesterase inhibitor for the treatment of penile erectile dysfunction.", "journal": "International journal of impotence research", "date": "1996", "authors": "Boolell M, Allen MJ, Ballard SA, Gepi-Attee S, Muirhead GJ, Naylor AM, Osterloh IH, Gingell C", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "8858389", "url": "https://glygen.org/publication/PubMed/8858389" } ] }, { "title": "Cardiovascular T-type calcium channels: physiological and pharmacological significance.", "journal": "Journal of hypertension. Supplement : official journal of the International Society of Hypertension", "date": "1997", "authors": "Triggle DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9481611", "url": "https://glygen.org/publication/PubMed/9481611" } ] }, { "title": "Effects of sildenafil on the relaxation of human corpus cavernosum tissue in vitro and on the activities of cyclic nucleotide phosphodiesterase isozymes.", "journal": "The Journal of urology", "date": "1998", "authors": "Ballard SA, Gingell CJ, Tang K, Turner LA, Price ME, Naylor AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9598563", "url": "https://glygen.org/publication/PubMed/9598563" } ] }, { "title": "Sildenafil, a novel inhibitor of phosphodiesterase type 5 in human corpus cavernosum smooth muscle cells.", "journal": "Life sciences", "date": "1998", "authors": "Moreland RB, Goldstein I, Traish A", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9600334", "url": "https://glygen.org/publication/PubMed/9600334" } ] }, { "title": "The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.", "journal": "J. Am. Coll. Cardiol.", "date": "1998", "authors": "Jaaskelainen P, Soranta M, Miettinen R, Saarinen L, Pihlajamaki J, Silvennoinen K, Tikanoja T, Laakso M, Kuusisto J", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "reference": [ { "type": "PubMed", "id": "9822100", "url": "https://glygen.org/publication/PubMed/9822100" } ] }, { "title": "YC-1 potentiates nitric oxide- and carbon monoxide-induced cyclic GMP effects in human platelets.", "journal": "Molecular pharmacology", "date": "1998", "authors": "Friebe A, Mullershausen F, Smolenski A, Walter U, Schultz G, Koesling D", "evidence": [ { "database": "Reactome", "id": "R-HSA-445355", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355" } ], "reference": [ { "type": "PubMed", "id": "9855623", "url": "https://glygen.org/publication/PubMed/9855623" } ] } ], "pathway": [ { "id": "hsa:7168", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7168", "resource": "KEGG Pathway" }, { "id": "R-HSA-390522", "name": "Striated Muscle Contraction", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390522", "resource": "Reactome", "description": "Striated Muscle Contraction" }, { "id": "R-HSA-445355", "name": "Smooth Muscle Contraction", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-445355", "resource": "Reactome", "description": "Smooth Muscle Contraction" } ], "orthologs": [ { "uniprot_canonical_ac": "P04692-1", "protein_name": "Tropomyosin alpha-1 chain", "gene_name": "Tpm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDKYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284 }, "evidence": [ { "id": "45224563", "url": "http://www.informatics.jax.org/homology/45224563", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P58771-1", "protein_name": "Tropomyosin alpha-1 chain", "gene_name": "Tpm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDKYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI", "length": 284 }, "evidence": [ { "id": "45224563", "url": "http://www.informatics.jax.org/homology/45224563", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "structural constituent of muscle", "id": "GO:0008307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008307", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "bleb", "id": "GO:0032059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032059", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "muscle thin filament tropomyosin", "id": "GO:0005862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005862", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "positive regulation of heart rate by epinephrine", "id": "GO:0003065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003065", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "ruffle organization", "id": "GO:0031529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031529", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "positive regulation of ATP-dependent activity", "id": "GO:0032781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032781", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Phosphorylated at Ser-283 by DAPK1 in response to oxidative stress and this phosphorylation enhances stress fiber formation in endothelial cells.", "evidence": [ { "database": "UniProtKB", "id": "P09493", "url": "https://www.uniprot.org/uniprot/P09493" }, { "database": "PubMed", "id": "17895359", "url": "https://glygen.org/publication/PubMed/17895359" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 10 }, { "field": "total_sites", "count": 9 } ], "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": 59 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }