{ "uniprot_canonical_ac": "Q5TC82-1", "uniprot_ac": "Q5TC82", "uniprot_id": "RC3H1_HUMAN", "mass": { "chemical_mass": 125736.0, "monoisotopic_mass": 125736.0 }, "refseq": { "ac": "NP_001287779", "name": "roquin-1 isoform a", "summary": "This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, "gene_names": [ { "name": "RC3H1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q5TC82", "id": "Q5TC82" }, { "name": "FHL6; IMDSHY; RNF198; ROQUIN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "id": "NP_001287779" }, { "name": "KIAA2025", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q5TC82", "id": "Q5TC82" }, { "name": "RC3H1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "id": "NP_001287779" }, { "name": "RNF198", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q5TC82", "id": "Q5TC82" } ], "protein_names": [ { "name": "Roquin-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q5TC82" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5TC82" }, { "name": "RING finger and C3H zinc finger protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5TC82" }, { "name": "RING finger and CCCH-type zinc finger domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5TC82" }, { "name": "RING finger protein 198; RING finger and C3H zinc finger protein 1; probable E3 ubiquitin-protein ligase Roquin; RING finger and CCCH-type zinc finger domain-containing protein 1; roquin-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "id": "NP_001287779" }, { "name": "RING finger protein 198", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5TC82" }, { "name": "Roquin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5TC82" }, { "name": "roquin-1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "id": "NP_001287779" } ], "function": [ { "annotation": "Combined disruption of T cell inflammatory regulators Regnase-1 and Roquin-1 enhances antitumor activity of engineered human T cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, { "database": "PubMed", "id": "36920923", "url": "https://glygen.org/publication/PubMed/36920923" } ] }, { "annotation": "Dynamic Regulation of the Nexus Between Stress Granules, Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of Warfare Vesicants. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, { "database": "PubMed", "id": "35082795", "url": "https://glygen.org/publication/PubMed/35082795" } ] }, { "annotation": "MiR-150 promotes progressive T cell differentiation via inhibiting FOXP1 and RC3H1.", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, { "database": "PubMed", "id": "35999072", "url": "https://glygen.org/publication/PubMed/35999072" } ] }, { "annotation": "Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078, PubMed:31636267). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing a hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Together with ZC3H12A, destabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25504471, PubMed:25026078). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406, PubMed:31636267). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670).", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82#function" }, { "database": "UniProtKB", "id": "Q4VGL6", "url": "https://www.uniprot.org/uniprot/Q4VGL6#function" }, { "database": "PubMed", "id": "31636267", "url": "https://glygen.org/publication/PubMed/31636267" }, { "database": "PubMed", "id": "25697406", "url": "https://glygen.org/publication/PubMed/25697406" }, { "database": "PubMed", "id": "25504471", "url": "https://glygen.org/publication/PubMed/25504471" }, { "database": "PubMed", "id": "25026078", "url": "https://glygen.org/publication/PubMed/25026078" }, { "database": "PubMed", "id": "26489670", "url": "https://glygen.org/publication/PubMed/26489670" } ] }, { "annotation": "Roquin1 inhibits the proliferation of breast cancer cells by inducing G1/S cell cycle arrest via selectively destabilizing the mRNAs of cell cycle-promoting genes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, { "database": "PubMed", "id": "33228782", "url": "https://glygen.org/publication/PubMed/33228782" } ] }, { "annotation": "Structural basis for the recognition of transiently structured AU-rich elements by Roquin.", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" }, { "database": "PubMed", "id": "32491174", "url": "https://glygen.org/publication/PubMed/32491174" } ] }, { "annotation": "This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ] } ], "disease": [ { "disease_id": "MONDO:0033557", "recommended_name": { "id": "MONDO:0033557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033557", "name": "hemophagocytic lymphohistiocytosis, familial, 6", "description": "" }, "synonyms": [ { "id": "MONDO:0033557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033557", "name": "immune dysregulation and systemic hyperinflammation syndrome", "description": "" }, { "id": "MONDO:0033557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033557", "name": "FHL6", "description": "" }, { "id": "MONDO:0033557", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033557", "name": "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6", "description": "" }, { "id": "MIM:618998", "resource": "MIM", "url": "https://www.omim.org/entry/618998", "name": "Immune dysregulation and systemic hyperinflammation syndrome", "description": "Immune dysregulation and systemic hyperinflammation syndrome" } ], "evidence": [ { "id": "618998", "database": "MIM", "url": "https://www.omim.org/entry/618998" } ] } ], "snv": [ { "evidence": [ { "id": "rs1373632804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1373632804" }, { "id": "rs1373632804", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1373632804#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1104, "end_pos": 1104, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TSS->NSS).", "chr_id": "1", "chr_pos": "173938812", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1104", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754337615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754337615" }, { "id": "rs754337615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754337615" }, { "id": "rs754337615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754337615" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 213, "end_pos": 213, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "1", "chr_pos": "173982858", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D213", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759295069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759295069" }, { "id": "rs759295069", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759295069" }, { "id": "rs759295069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759295069#frequency_tab" }, { "id": "rs759295069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759295069" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 22, "end_pos": 22, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "1", "chr_pos": "173992922", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q5TC82", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q5TC82" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 283, "end_pos": 283, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HDS->NDS).", "chr_id": "1", "chr_pos": "173980931", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H283", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q5TC82", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q5TC82" } ], "glycoeffect": [], "start_pos": 447, "end_pos": 447, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "173965116", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R447", "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" } ] }, { "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": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"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 - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"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", 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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 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"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 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"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": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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": "Q5TC82", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5TC82" } ], "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": 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"categories": [ "Protein Classification" ] }, { "id": "RC3H1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RC3H1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "149041", "url": "https://www.ncbi.nlm.nih.gov/gene/149041", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29434", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29434", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q5TC82", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q5TC82*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000571", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000571", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001841", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017907", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017907", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027370", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027370", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036855", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036855", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:149041", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:149041", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "609424", "url": "http://www.omim.org/entry/609424", "database": "MIM", "categories": [ "Other" ] }, { "id": "618998", "url": "http://www.omim.org/entry/618998", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q5TC82", "url": "https://www.nextprot.org/entry/NX_Q5TC82", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q5TC82", "url": "https://oglcnac.org/atlas/detail/Q5TC82", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q5TC82", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TC82", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WGSSPYS", "url": "https://omabrowser.org/oma/group/WGSSPYS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2909513at2759", "url": "http://www.orthodb.org/?query=2909513at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13139", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13139", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13139:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13139:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3X1O", "url": "https://www.rcsb.org/structure/3X1O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4QIK", "url": "https://www.rcsb.org/structure/4QIK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4QIL", "url": "https://www.rcsb.org/structure/4QIL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ULW", "url": "https://www.rcsb.org/structure/4ULW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YWQ", "url": "https://www.rcsb.org/structure/4YWQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF13445", "url": "http://pfam.xfam.org/family/PF13445", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18386", "url": "http://pfam.xfam.org/family/PF18386", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q5TC82", "url": "https://pharos.nih.gov/targets/Q5TC82", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q5TC82", "url": "http://purl.obolibrary.org/obo/PR_Q5TC82", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC82-1", "url": "https://www.uniprot.org/uniprot/Q5TC82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TC82-2", "url": "https://www.uniprot.org/uniprot/Q5TC82-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTDIELLPVNSALLQLVGAQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVGLNSTTQSVLSRPMQRKLVTLVHCQLVEEEGRIRAMRAARSLGERTVTELILQHQNPQQLSSNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAPDQWSSLLYGDQSHKSHMQSIIDKLQTPASFAQSVQELTIALQRTGDPANLNRLRPHLELLANIDPSPDAPPPTWEQLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCRDMKQRGGCPRGASCTFAHSQEELEKFRKMNKRLVPRRPLSASLGQLNEVGLPSAAILPDEGAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKIDHLSSSAPGSPPDLLESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAAPPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQQYPPIYPSHYDGRRVYPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYPVAPHPTQIRPSYLREPPYSRLPPPPQPHPSLDELHRRRKEIMAQLEERKVISPPPFAPSPTLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTKDAKPKDVVAAGSVEMMNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMAPQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPSAEREQLRLELQQLNHQISQQTQLRGLEAVSNRLVLQREANTLAGQSQPPPPPPPKWPGMISSEQLSLELHQVEREIGKRTRELSMENQCSLDMKSKLNTSKQAENGQPEPQNKVPAEDLTLTFSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRSGVTPSSAP", "length": 1133, "header": "sp|Q5TC82-1|RC3H1_HUMAN Isoform 1 of Roquin-1 OS=Homo sapiens OX=9606 GN=RC3H1 PE=1 SV=1 CANONICAL=Q5TC82-1" }, "isoforms": [ { "isoform_ac": "Q5TC82-1", "url": "", "sequence": { "sequence": "MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTDIELLPVNSALLQLVGAQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVGLNSTTQSVLSRPMQRKLVTLVHCQLVEEEGRIRAMRAARSLGERTVTELILQHQNPQQLSSNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAPDQWSSLLYGDQSHKSHMQSIIDKLQTPASFAQSVQELTIALQRTGDPANLNRLRPHLELLANIDPSPDAPPPTWEQLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCRDMKQRGGCPRGASCTFAHSQEELEKFRKMNKRLVPRRPLSASLGQLNEVGLPSAAILPDEGAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKIDHLSSSAPGSPPDLLESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAAPPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQQYPPIYPSHYDGRRVYPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYPVAPHPTQIRPSYLREPPYSRLPPPPQPHPSLDELHRRRKEIMAQLEERKVISPPPFAPSPTLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTKDAKPKDVVAAGSVEMMNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMAPQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPSAEREQLRLELQQLNHQISQQTQLRGLEAVSNRLVLQREANTLAGQSQPPPPPPPKWPGMISSEQLSLELHQVEREIGKRTRELSMENQCSLDMKSKLNTSKQAENGQPEPQNKVPAEDLTLTFSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRSGVTPSSAP", "length": 1133, "header": "sp|Q5TC82-1|RC3H1_HUMAN Isoform 1 of Roquin-1 OS=Homo sapiens OX=9606 GN=RC3H1 PE=1 SV=1 CANONICAL=Q5TC82-1" }, "locus": { "chromosome": "1", "start_pos": 173992985, "end_pos": 173938724, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258349.8", "url": "https://www.ensembl.org/id/ENST00000258349.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000258349.4", "url": "https://www.ensembl.org/id/ENSP00000258349.4" } ] } }, { "isoform_ac": "Q5TC82-2", "url": "", "sequence": { "sequence": "MPVQAPQWTDFLSCPICTQTFDETIRKPISLGCGHTVCKMCLNKLHRKACPFDQTTINTDIELLPVNSALLQLVGAQVPEQQPITLCSGVEDTKHYEEAKKCVEELALYLKPLSSARGVGLNSTTQSVLSRPMQRKLVTLVHCQLVEEEGRIRAMRAARSLGERTVTELILQHQNPQQLSSNLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQRLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRTYEALRREHDSQIVQIAMEAGLRIAPDQWSSLLYGDQSHKSHMQSIIDKLQTPASFAQSVQELTIALQRTGDPANLNRLRPHLELLANIDPSPDAPPPTWEQLENGLVAVRTVVHGLVDYIQNHSKKGADQQQPPQHSKYKTYMCRDMKQRGGCPRGASCTFAHSQEELEKFRKMNKRLVPRRPLSASLGQLNEVGLPSAAILPDEGAVDLPSRKPPALPNGIVSTGNTVTQLIPRGTDPSYDSSLKPGKIDHLSSSAPGSPPDLLESVPKSISALPVNPHSIPPRGPADLPPMPVTKPLQMVPRGSQLYPAQQTDVYYQDPRGAAPPFEPAPYQQGMYYTPPPQCVSRFVRPPPSAPEPAPPYLDHYPPYLQERVVNSQYGTQPQQYPPIYPSHYDGRRVYPAPSYTREEIFRESPIPIEIPPAAVPSYVPESRERYQQIESYYPVAPHPTQIRPSYLREPPYSRLPPPPQPHPSLDELHRRRKEIMAQLEERKVISPPPFAPSPTLPPTFHPEEFLDEDLKVAGKYKGNDYSQYSPWSCDTIGSYIGTKDAKPKDVVAAGSVEMMNVESKGMRDQRLDLQRRAAETSDDDLIPFGDRPTVSRFGAISRTSKTIYQGAGPMQAMAPQGAPTKSINISDYSPYGTHGGWGASPYSPHQNIPSQGHFSERERISMSEVASHGKPLPSAEREQLRLELQQLNHQISQQTQLRGLEREANTLAGQSQPPPPPPPKWPGMISSEQLSLELHQVEREIGKRTRELSMENQCSLDMKSKLNTSKQAENGQPEPQNKVPAEDLTLTFSSDVPNGSALTQENISLLSNKTSSLNLSEDPEGGGDNNDSQRSGVTPSSAP", "length": 1125, "header": "sp|Q5TC82-2|RC3H1_HUMAN Isoform 2 of Roquin-1 OS=Homo sapiens OX=9606 GN=RC3H1 PE=1 SV=1 CANONICAL=Q5TC82-1" }, "locus": { "chromosome": "1", "start_pos": 173992985, "end_pos": 173938724, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367694.2", "url": "https://www.ensembl.org/id/ENST00000367694.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000356667.2", "url": "https://www.ensembl.org/id/ENSP00000356667.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1131, "start_aa": "Ser", "end_pos": 1131, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1131", "evidence": [ { "id": "Q5TC82", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TC82" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q5TC82", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5TC82" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 877, "start_aa": "Ser", "end_pos": 877, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser877", "evidence": [ { "id": "Q5TC82", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TC82" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "phosphorylation": [ { "start_pos": 1110, "end_pos": 1110, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "site_lbl": "Ser1110" }, { "start_pos": 253, "end_pos": 253, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser253" }, { "start_pos": 462, "end_pos": 462, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" } ], "site_lbl": "Ser462" }, { "start_pos": 530, "end_pos": 530, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q5TC82", "url": "http://phospho.elm.eu.org/byAccession/Q5TC82.html" } ], "site_lbl": "Ser530" }, { "start_pos": 531, "end_pos": 531, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "site_lbl": "Ser531" }, { "start_pos": 535, "end_pos": 535, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" }, { "database": "phospho.ELM", "id": "Q5TC82", "url": "http://phospho.elm.eu.org/byAccession/Q5TC82.html" } ], "site_lbl": "Ser535" }, { "start_pos": 863, "end_pos": 863, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" } ], "site_lbl": "Ser863" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "iPTMnet", "id": "Q5TC82-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q5TC82-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Molecular control of Tfh-cell differentiation by Roquin family proteins.", "journal": "Immunol. Rev.", "date": "2013", "authors": "Heissmeyer V., Vogel K.U.", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "23550652", "url": "https://glygen.org/publication/PubMed/23550652" } ] }, { "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": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" }, { "database": "iPTMnet", "id": "Q5TC82", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "The ROQ domain of Roquin recognizes mRNA constitutive-decay element and double-stranded RNA.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Tan D, Zhou M, Kiledjian M, Tong L", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "25026078", "url": "https://glygen.org/publication/PubMed/25026078" } ] }, { "title": "Roquin binding to target mRNAs involves a winged helix-turn-helix motif.", "journal": "Nat. Commun.", "date": "2014", "authors": "Schuetz A, Murakawa Y, Rosenbaum E, Landthaler M, Heinemann U", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "25504471", "url": "https://glygen.org/publication/PubMed/25504471" } ] }, { "title": "Roquin binds microRNA-146a and Argonaute2 to regulate microRNA homeostasis.", "journal": "Nat. Commun.", "date": "2015", "authors": "Srivastava M, Duan G, Kershaw NJ, Athanasopoulos V, Yeo JH, Ose T, Hu D, Brown SH, Jergic S, Patel HR, Pratama A, Richards S, Verma A, Jones EY, Heissmeyer V, Preiss T, Dixon NE, Chong MM, Babon JJ, Vinuesa CG", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "25697406", "url": "https://glygen.org/publication/PubMed/25697406" } ] }, { "title": "New Insights into the RNA-Binding and E3 Ubiquitin Ligase Activities of Roquins.", "journal": "Sci. Rep.", "date": "2015", "authors": "Zhang Q, Fan L, Hou F, Dong A, Wang YX, Tong Y", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "26489670", "url": "https://glygen.org/publication/PubMed/26489670" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5TC82", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TC82" }, { "database": "O-GlcNAc Atlas", "id": "Q5TC82", "url": "https://oglcnac.org/atlas/detail/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5TC82", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.", "journal": "Nat. Commun.", "date": "2019", "authors": "Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "reference": [ { "type": "PubMed", "id": "31636267", "url": "https://glygen.org/publication/PubMed/31636267" } ] }, { "title": "Structural basis for the recognition of transiently structured AU-rich elements by Roquin.", "journal": "Nucleic acids research", "date": "2020", "authors": "Binas O, Tants JN, Peter SA, Janowski R, Davydova E, Braun J, Niessing D, Schwalbe H, Weigand JE, Schlundt A", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ], "reference": [ { "type": "PubMed", "id": "32491174", "url": "https://glygen.org/publication/PubMed/32491174" } ] }, { "title": "Roquin1 inhibits the proliferation of breast cancer cells by inducing G1/S cell cycle arrest via selectively destabilizing the mRNAs of cell cycle-promoting genes.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020", "authors": "Lu W, Zhou M, Wang B, Liu X, Li B", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ], "reference": [ { "type": "PubMed", "id": "33228782", "url": "https://glygen.org/publication/PubMed/33228782" } ] }, { "title": "Dynamic Regulation of the Nexus Between Stress Granules, Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of Warfare Vesicants.", "journal": "Frontiers in immunology", "date": "2021", "authors": "Srivastava RK, Mishra B, Muzaffar S, Gorbatyuk MS, Agarwal A, Mukhtar MS, Athar M", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ], "reference": [ { "type": "PubMed", "id": "35082795", "url": "https://glygen.org/publication/PubMed/35082795" } ] }, { "title": "miR-150 promotes progressive T cell differentiation via inhibiting FOXP1 and RC3H1.", "journal": "Human immunology", "date": "2022-11", "authors": "Xia Shengfang, Huang Jianqing, Yan Lijun, Han Jiayi, Zhang Wenfeng, Shao Hongwei, Shen Han, Wang Jinquan, Wang Jinquan, Tao Changli, Wang Dingding, Wu Fenglin", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ], "reference": [ { "type": "PubMed", "id": "35999072", "url": "https://glygen.org/publication/PubMed/35999072" } ] }, { "title": "Combined disruption of T cell inflammatory regulators Regnase-1 and Roquin-1 enhances antitumor activity of engineered human T cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-03-21", "authors": "Mai David, Johnson Omar, Reff Jordan, Fan Ting-Jia, Scholler John, Sheppard Neil C, June Carl H", "evidence": [ { "database": "RefSeq", "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779" } ], "reference": [ { "type": "PubMed", "id": "36920923", "url": "https://glygen.org/publication/PubMed/36920923" } ] } ], "pathway": [ { "id": "hsa:149041", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:149041", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q4VGL6-1", "protein_name": "Roquin-1", "gene_name": "Rc3h1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "pmid": "" }, { "name": "P-body assembly", "id": "GO:0033962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033962", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "Q5TC82", "url": "https://www.uniprot.org/uniprot/Q5TC82" } ], "pmid": "" }, { "name": "regulation of miRNA metabolic process", "id": "GO:2000628", 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