{ "uniprot_canonical_ac": "P51114-1", "uniprot_ac": "P51114", "uniprot_id": "FXR1_HUMAN", "mass": { "chemical_mass": 69721.0, "monoisotopic_mass": 69721.0 }, "refseq": { "ac": "NP_001013456", "name": "RNA-binding protein FXR1 isoform b", "summary": "The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" }, "gene_names": [ { "name": "FXR1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P51114", "id": "P51114" }, { "name": "CMYP9A; CMYP9B; FXR1P; MYOPMIL; MYORIBF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456", "id": "NP_001013456" }, { "name": "FXR1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456", "id": "NP_001013456" }, { "name": "hCG_2021334", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P51114", "id": "P51114" } ], "protein_names": [ { "name": "RNA-binding protein FXR1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P51114" }, { "name": "FMR1 autosomal homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P51114" }, { "name": "RNA-binding protein FXR1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456", "id": "NP_001013456" }, { "name": "RNA-binding protein FXR1; FMR1 autosomal protein-like protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456", "id": "NP_001013456" }, { "name": "hFXR1p", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P51114" } ], "function": [ { "annotation": "FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" }, { "database": "PubMed", "id": "36732356", "url": "https://glygen.org/publication/PubMed/36732356" } ] }, { "annotation": "FXR1 facilitates axitinib resistance in clear cell renal cell carcinoma via regulating KEAP1/Nrf2 signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" }, { "database": "PubMed", "id": "36730618", "url": "https://glygen.org/publication/PubMed/36730618" } ] }, { "annotation": "FXR1 regulates vascular smooth muscle cell cytoskeleton, VSMC contractility, and blood pressure by multiple mechanisms.", "evidence": [ { "database": "RefSeq", "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" }, { "database": "PubMed", "id": "37043351", "url": "https://glygen.org/publication/PubMed/37043351" } ] }, { "annotation": "Fragile X-Related Protein FXR1 Controls Human Adenovirus Capsid mRNA Metabolism.", "evidence": [ { "database": "RefSeq", "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" }, { "database": "PubMed", "id": "36749074", "url": "https://glygen.org/publication/PubMed/36749074" } ] }, { "annotation": "The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456" } ] }, { "annotation": "mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis (PubMed:17382880, PubMed:20417602, PubMed:30067974, PubMed:34731628, PubMed:35989368, PubMed:36306353). Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:17382880, PubMed:34731628). Promotes formation of some phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to AREs-containing mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors (By similarity). Required to activate translation of stored mRNAs during late spermatogenesis: acts by undergoing liquid-liquid phase separation to assemble target mRNAs into cytoplasmic ribonucleoprotein granules that recruit translation initiation factor EIF4G3 to activate translation of stored mRNAs in late spermatids (By similarity). Promotes translation of MYC transcripts by recruiting the eIF4F complex to the translation start site (PubMed:34731628). Acts as a negative regulator of inflammation in response to IL19 by promoting destabilization of pro-inflammatory transcripts (PubMed:30067974). Also acts as an inhibitor of inflammation by binding to TNF mRNA, decreasing TNF protein production (By similarity). Acts as a negative regulator of AMPA receptor GRIA2/GluA2 synthesis during long-lasting synaptic potentiation of hippocampal neurons by binding to GRIA2/GluA2 mRNA, thereby inhibiting its translation (By similarity). Regulates proliferation of adult neural stem cells by binding to CDKN1A mRNA and promoting its expression (By similarity). Acts as a regulator of sleep and synaptic homeostasis by regulating translation of transcripts in neurons (By similarity). Required for embryonic and postnatal development of muscle tissue by undergoing liquid-liquid phase separation to assemble target mRNAs into cytoplasmic ribonucleoprotein granules (PubMed:30770808). Involved in the nuclear pore complex localization to the nuclear envelope by preventing cytoplasmic aggregation of nucleoporins: acts by preventing ectopic phase separation of nucleoporins in the cytoplasm via a microtubule-dependent mechanism (PubMed:32706158).", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114#function" }, { "database": "UniProtKB", "id": "Q61584", "url": "https://www.uniprot.org/uniprot/Q61584#function" }, { "database": "PubMed", "id": "32706158", "url": "https://glygen.org/publication/PubMed/32706158" }, { "database": "PubMed", "id": "36306353", "url": "https://glygen.org/publication/PubMed/36306353" }, { "database": "PubMed", "id": "34731628", "url": "https://glygen.org/publication/PubMed/34731628" }, { "database": "PubMed", "id": "17382880", "url": "https://glygen.org/publication/PubMed/17382880" }, { "database": "PubMed", "id": "20417602", "url": "https://glygen.org/publication/PubMed/20417602" }, { "database": "PubMed", "id": "30067974", "url": "https://glygen.org/publication/PubMed/30067974" }, { "database": "PubMed", "id": "35989368", "url": "https://glygen.org/publication/PubMed/35989368" }, { "database": "PubMed", "id": "30770808", "url": "https://glygen.org/publication/PubMed/30770808" } ] } ], "disease": [ { "disease_id": "DOID:0081343", "recommended_name": { "id": "DOID:0081343", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081343", "name": "congenital myopathy 9A", "description": "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28." }, "synonyms": [ { "id": "MONDO:0032936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032936", "name": "myopathy, congenital, with respiratory insufficiency and bone fractures", "description": "" }, { "id": "MONDO:0032936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032936", "name": "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES", "description": "" }, { "id": "MONDO:0032936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032936", "name": "MYORIBF", "description": "" }, { "id": "MIM:618822", "resource": "MIM", "url": "https://www.omim.org/entry/618822", "name": "Congenital myopathy 9A", "description": "Congenital myopathy 9A" } ], "evidence": [ { "id": "618822", "database": "MIM", "url": "https://www.omim.org/entry/618822" } ] }, { "disease_id": "DOID:0081344", "recommended_name": { "id": "DOID:0081344", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081344", "name": "congenital myopathy 9B", "description": "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A." }, "synonyms": [ { "id": "MONDO:0032937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032937", "name": "myopathy, congenital proximal, with minicore lesions", "description": "" }, { "id": "MONDO:0032937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032937", "name": "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS", "description": "" }, { "id": "MONDO:0032937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032937", "name": "MYOPMIL", "description": "" }, { "id": "MIM:618823", "resource": "MIM", "url": "https://www.omim.org/entry/618823", "name": "Congenital myopathy 9B, proximal, with minicore lesions", "description": "Congenital myopathy 9B, proximal, with minicore lesions" } ], "evidence": [ { "id": "618823", "database": "MIM", "url": "https://www.omim.org/entry/618823" } ] } ], "snv": [ { "evidence": [ { "id": "rs749079733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749079733" }, { "id": "rs749079733", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749079733" }, { "id": "rs749079733", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749079733" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "3", "chr_pos": "180948429", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745531617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745531617" }, { "id": "rs745531617", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745531617" }, { "id": "rs745531617", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745531617#frequency_tab" }, { "id": "rs745531617", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745531617" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 145, "end_pos": 145, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEN->NES).", "chr_id": "3", "chr_pos": "180948735", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1313213333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1313213333" }, { "id": "rs1313213333", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1313213333" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 184, "end_pos": 184, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIL->NIS).", "chr_id": "3", "chr_pos": "180949264", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774418287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774418287" }, { "id": "rs774418287", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774418287" }, { "id": "rs774418287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774418287#frequency_tab" }, { "id": "rs774418287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774418287" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 408, "end_pos": 408, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NHS).", "chr_id": "3", "chr_pos": "180968075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P51114", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P51114" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 421, "end_pos": 421, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "3", "chr_pos": "180968113", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D421", "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", 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"id": "P51114", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P51114" } ], "glycoeffect": [], "start_pos": 433, "end_pos": 433, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P51114", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51114" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P51114", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51114" } ], "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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P51114", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51114" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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}, { "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": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "common_name": "Human" } ], "gene": [ { "name": "FXR1", "url": "https://www.uniprot.org/uniprot/P51114", "locus": { "chromosome": "3", "start_pos": 180982753, "end_pos": 180868141, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000114416", "url": "https://www.ensembl.org/id/ENSG00000114416" } ] } } ], "crossref": [ { "id": "ENSG00000114416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114416", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P51114", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P51114", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd20472", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20472", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20475", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20475", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22504", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22504", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22507", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22507", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22510", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22510", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3879858", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3879858", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "FXR1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=FXR1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "8087", "url": "https://www.ncbi.nlm.nih.gov/gene/8087", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4023", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4023", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "H7C4S4", "url": "https://www.ebi.ac.uk/intact/interactors/id:H7C4S4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P51114", "url": "https://www.ebi.ac.uk/intact/interactors/id:P51114*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008395", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008395", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022034", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022034", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032172", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032172", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032177", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032177", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036612", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036612", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040148", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040148", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040472", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040472", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041560", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041560", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047425", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047425", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047427", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047427", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047494", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047494", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047495", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047495", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047496", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047496", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8087", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8087", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "600819", "url": "http://www.omim.org/entry/600819", "database": "MIM", "categories": [ "Other" ] }, { "id": "618822", "url": "http://www.omim.org/entry/618822", "database": "MIM", "categories": [ "Other" ] }, { "id": "618823", "url": "http://www.omim.org/entry/618823", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P51114", "url": "https://www.nextprot.org/entry/NX_P51114", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "P51114", "url": "https://oglcnac.org/atlas/detail/P51114", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P51114", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51114", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CAHENAH", "url": "https://omabrowser.org/oma/group/CAHENAH/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2995592at2759", "url": "http://www.orthodb.org/?query=2995592at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10603", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10603", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10603:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10603:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2CPQ", "url": "https://www.rcsb.org/structure/2CPQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KUF", "url": "https://www.rcsb.org/structure/3KUF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3O8V", "url": "https://www.rcsb.org/structure/3O8V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00013", "url": "http://pfam.xfam.org/family/PF00013", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05641", "url": "http://pfam.xfam.org/family/PF05641", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12235", "url": "http://pfam.xfam.org/family/PF12235", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16096", "url": "http://pfam.xfam.org/family/PF16096", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16097", "url": "http://pfam.xfam.org/family/PF16097", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17904", "url": "http://pfam.xfam.org/family/PF17904", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18336", "url": "http://pfam.xfam.org/family/PF18336", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P51114", "url": "https://pharos.nih.gov/targets/P51114", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P51114", "url": "http://purl.obolibrary.org/obo/PR_P51114", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001013456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013456", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8TM97", "url": "https://www.uniprot.org/uniprot/A0A8V8TM97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TM97-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TM97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMQ1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMQ1-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNP6", "url": "https://www.uniprot.org/uniprot/A0A8V8TNP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNP6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DXZ6", "url": "https://www.uniprot.org/uniprot/B4DXZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DXZ6-1", "url": "https://www.uniprot.org/uniprot/B4DXZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ22", "url": "https://www.uniprot.org/uniprot/C9IZ22", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZ22-1", "url": "https://www.uniprot.org/uniprot/C9IZ22-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J5B4", "url": "https://www.uniprot.org/uniprot/C9J5B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J5B4-1", "url": "https://www.uniprot.org/uniprot/C9J5B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JAJ4", "url": "https://www.uniprot.org/uniprot/C9JAJ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JAJ4-1", "url": "https://www.uniprot.org/uniprot/C9JAJ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JY20", "url": "https://www.uniprot.org/uniprot/C9JY20", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JY20-1", "url": "https://www.uniprot.org/uniprot/C9JY20-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JYQ6", "url": "https://www.uniprot.org/uniprot/C9JYQ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JYQ6-1", "url": "https://www.uniprot.org/uniprot/C9JYQ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZE0", "url": "https://www.uniprot.org/uniprot/C9JZE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JZE0-1", "url": "https://www.uniprot.org/uniprot/C9JZE0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EU85", "url": "https://www.uniprot.org/uniprot/E7EU85", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EU85-1", "url": "https://www.uniprot.org/uniprot/E7EU85-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFF5", "url": "https://www.uniprot.org/uniprot/E9PFF5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFF5-1", "url": "https://www.uniprot.org/uniprot/E9PFF5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4S4", "url": "https://www.uniprot.org/uniprot/H7C4S4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4S4-1", "url": "https://www.uniprot.org/uniprot/H7C4S4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51114-1", "url": "https://www.uniprot.org/uniprot/P51114-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51114-2", "url": "https://www.uniprot.org/uniprot/P51114-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51114-3", "url": "https://www.uniprot.org/uniprot/P51114-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLNGVS", "length": 621, "header": "sp|P51114-1|FXR1_HUMAN Isoform 1 of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=3 CANONICAL=P51114-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TM97-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENKYIQEQMTKSHVGGGWLKFG", "length": 54, "header": "tr|A0A8V8TM97-1|FXR1_HUMAN Computationally mapped isoform of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180947922, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475315.5", "url": "https://www.ensembl.org/id/ENST00000475315.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000513935.1", "url": "https://www.ensembl.org/id/ENSP00000513935.1" } ] } }, { "isoform_ac": "A0A8V8TMQ1-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGMGFRPSSTRGPEKEKGYATDESTVSSVQGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLNGVS", "length": 650, "header": "tr|A0A8V8TMQ1-1|A0A8V8TMQ1_HUMAN Computationally mapped isoform of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976289, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698794.1", "url": "https://www.ensembl.org/id/ENST00000698794.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513937.1", "url": "https://www.ensembl.org/id/ENSP00000513937.1" } ] } }, { "isoform_ac": "A0A8V8TNP6-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGMGFRPSSTRGPEKEKGYATDESTVSSVQGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLGKRCD", "length": 568, "header": "tr|A0A8V8TNP6-1|A0A8V8TNP6_HUMAN Computationally mapped isoform of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976135, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698793.1", "url": "https://www.ensembl.org/id/ENST00000698793.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513936.1", "url": "https://www.ensembl.org/id/ENSP00000513936.1" } ] } }, { "isoform_ac": "B4DXZ6-1", "url": "", "sequence": { "sequence": "MVTEGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLNGVS", "length": 608, "header": "tr|B4DXZ6-1|FXR1_HUMAN Computationally mapped isoform of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976289, "end_pos": 180915517, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480918.5", "url": "https://www.ensembl.org/id/ENST00000480918.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418097.1", "url": "https://www.ensembl.org/id/ENSP00000418097.1" } ] } }, { "isoform_ac": "C9IZ22-1", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVK", "length": 94, "header": "tr|C9IZ22-1|C9IZ22_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180949250, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000465551.5", "url": "https://www.ensembl.org/id/ENST00000465551.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418724.1", "url": "https://www.ensembl.org/id/ENSP00000418724.1" } ] } }, { "isoform_ac": "C9J5B4-1", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIF", "length": 75, "header": "tr|C9J5B4-1|C9J5B4_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180948781, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484790.5", "url": "https://www.ensembl.org/id/ENST00000484790.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417125.1", "url": "https://www.ensembl.org/id/ENSP00000417125.1" } ] } }, { "isoform_ac": "C9JAJ4-1", "url": "", "sequence": { "sequence": "MRAVNILVYFFGFFWWFFNVQGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAH", "length": 151, "header": "tr|C9JAJ4-1|C9JAJ4_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180948742, "end_pos": 180915569, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484042.1", "url": "https://www.ensembl.org/id/ENST00000484042.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417513.1", "url": "https://www.ensembl.org/id/ENSP00000417513.1" } ] } }, { "isoform_ac": "C9JY20-1", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKH", "length": 123, "header": "tr|C9JY20-1|C9JY20_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180949337, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484958.5", "url": "https://www.ensembl.org/id/ENST00000484958.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419933.1", "url": "https://www.ensembl.org/id/ENSP00000419933.1" } ] } }, { "isoform_ac": "C9JYQ6-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKAI", "length": 19, "header": "tr|C9JYQ6-1|C9JYQ6_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180927653, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491674.1", "url": "https://www.ensembl.org/id/ENST00000491674.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419047.1", "url": "https://www.ensembl.org/id/ENSP00000419047.1" } ] } }, { "isoform_ac": "C9JZE0-1", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEE", "length": 119, "header": "tr|C9JZE0-1|C9JZE0_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180949325, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000469882.5", "url": "https://www.ensembl.org/id/ENST00000469882.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419793.1", "url": "https://www.ensembl.org/id/ENSP00000419793.1" } ] } }, { "isoform_ac": "E7EU85-1", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLGKRCD", "length": 454, "header": "tr|E7EU85-1|FXR1_HUMAN Computationally mapped isoform of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976135, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000468861.5", "url": "https://www.ensembl.org/id/ENST00000468861.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420515.1", "url": "https://www.ensembl.org/id/ENSP00000420515.1" } ] } }, { "isoform_ac": "E9PFF5-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLGKRCD", "length": 490, "header": "tr|E9PFF5-1|E9PFF5_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=1 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976135, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491062.5", "url": "https://www.ensembl.org/id/ENST00000491062.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420643.1", "url": "https://www.ensembl.org/id/ENSP00000420643.1" } ] } }, { "isoform_ac": "H7C4S4-1", "url": "", "sequence": { "sequence": "XTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLDDSEKKPQRRNRSRRRRFRGQAEDRQPVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLN", "length": 246, "header": "tr|H7C4S4-1|H7C4S4_HUMAN Computationally mapped isoform of FMR1 autosomal homolog 1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=8 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976281, "end_pos": 180968051, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482125.1", "url": "https://www.ensembl.org/id/ENST00000482125.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000418027.1", "url": "https://www.ensembl.org/id/ENSP00000418027.1" } ] } }, { "isoform_ac": "P51114-1", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLNGVS", "length": 621, "header": "sp|P51114-1|FXR1_HUMAN Isoform 1 of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=3 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976289, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357559.9", "url": "https://www.ensembl.org/id/ENST00000357559.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000350170.3", "url": "https://www.ensembl.org/id/ENSP00000350170.3" } ] } }, { "isoform_ac": "P51114-2", "url": "", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLGKRCD", "length": 539, "header": "sp|P51114-2|FXR1_HUMAN Isoform 2 of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=3 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976135, "end_pos": 180912686, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445140.6", "url": "https://www.ensembl.org/id/ENST00000445140.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000388828.2", "url": "https://www.ensembl.org/id/ENSP00000388828.2" } ] } }, { "isoform_ac": "P51114-3", "url": "", "sequence": { "sequence": "MMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGEEKINTLKEENTQEAAVLNGVS", "length": 536, "header": "sp|P51114-3|FXR1_HUMAN Isoform 3 of RNA-binding protein FXR1 OS=Homo sapiens OX=9606 GN=FXR1 PE=1 SV=3 CANONICAL=P51114-1" }, "locus": { "chromosome": "3", "start_pos": 180976289, "end_pos": 180947922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000305586.11", "url": "https://www.ensembl.org/id/ENST00000305586.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000307633.7", "url": "https://www.ensembl.org/id/ENSP00000307633.7" } ] } } ], "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": 463, "start_aa": "Ser", "end_pos": 463, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser463", "evidence": [ { "id": "P51114", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51114" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "P51114", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P51114" } ] } ], "phosphorylation": [ { "start_pos": 401, "end_pos": 401, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P51114", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr401" }, { "start_pos": 403, "end_pos": 403, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "iPTMnet", "id": "P51114", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser403" }, { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P51114", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "P51114", "url": "http://phospho.elm.eu.org/byAccession/P51114.html" } ], "site_lbl": "Ser406" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P51114", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114" }, { "database": "PubMed", "id": "17081983", 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Genet.", "date": "2003", "authors": "Mazroui R, Huot ME, Tremblay S, Boilard N, Labelle Y, Khandjian EW", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "14532325", "url": "https://glygen.org/publication/PubMed/14532325" } ] }, { "title": "Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "15630448", "url": "https://glygen.org/publication/PubMed/15630448" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "UniProtKB", "id": "E9PFF5", "url": "https://www.uniprot.org/uniprot/E9PFF5" }, { "database": "UniProtKB", "id": "E7EU85", "url": "https://www.uniprot.org/uniprot/E7EU85" }, { "database": "UniProtKB", "id": "B4DXZ6", "url": "https://www.uniprot.org/uniprot/B4DXZ6" }, { "database": "UniProtKB", "id": "H7C4S4", "url": "https://www.uniprot.org/uniprot/H7C4S4" }, { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "AU-rich-element-mediated upregulation of translation by FXR1 and Argonaute 2.", "journal": "Cell", "date": "2007", "authors": "Steitz J.A., Vasudevan S.", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "17382880", "url": "https://glygen.org/publication/PubMed/17382880" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP.", "journal": "Hum. 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Genet.", "date": "2008", "authors": "Linder B, Plottner O, Kroiss M, Hartmann E, Laggerbauer B, Meister G, Keidel E, Fischer U", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "18664458", "url": "https://glygen.org/publication/PubMed/18664458" } ] }, { "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": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.", "journal": "Cancer research", "date": "2008", "authors": "Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "18974108", "url": "https://glygen.org/publication/PubMed/18974108" } ] }, { "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": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "iPTMnet", "id": "P51114", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "iPTMnet", "id": "P51114-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51114-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A functional requirement for PAK1 binding to the KH(2) domain of the fragile X protein-related FXR1.", "journal": "Mol. 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Cell. Biol.", "date": "1996", "authors": "Siomi MC, Zhang Y, Siomi H, Dreyfuss G", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "8668200", "url": "https://glygen.org/publication/PubMed/8668200" } ] }, { "title": "Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Oostra B.A., Willemsen R., Tamanini F., Bontekoe C., Galjaard H., Hoogeveen A.T., van Unen L.", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "reference": [ { "type": "PubMed", "id": "9259278", "url": "https://glygen.org/publication/PubMed/9259278" } ] } ], "pathway": [ { "id": "hsa:8087", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8087", "resource": "KEGG Pathway" }, { "id": "R-HSA-6802952", "name": "Signaling by BRAF and RAF1 fusions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "resource": "Reactome", "description": "Signaling by BRAF and RAF1 fusions" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5XI81-1", "protein_name": "RNA-binding protein FXR1", "gene_name": "Fxr1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAELTVEVRGSNGAFYKVFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESAEAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGMGFRPSSTRGPEKEKGYATDESTVSSVQGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRETRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLGKRCD", "length": 568 }, "evidence": [ { "id": "45225703", "url": "http://www.informatics.jax.org/homology/45225703", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61584-1", "protein_name": "RNA-binding protein FXR1", "gene_name": "Fxr1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESAEAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGMGFRPSSTRGPEREKGYATDESTVSSVQGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELSDWSLAGEDDRETRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGLTESDTASVNENGLDDSEKKPQRRNRSRRRRFRGQAEDRQPVTVADYISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDEIPKLPRTLGEEKTKTLKEDSTQEAAVLNGVS", "length": 677 }, "evidence": [ { "id": "45225703", "url": "http://www.informatics.jax.org/homology/45225703", "database": "MGI" }, { "id": "P51114", "url": "https://omabrowser.org/oma/group/P51114/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", 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"url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "positive regulation of miRNA-mediated gene silencing", "id": "GO:2000637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000637", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "nuclear pore complex assembly", "id": "GO:0051292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051292", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "non-membrane-bounded organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 22, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "polysome", "id": "GO:0005844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005844", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "dendritic spine neck", "id": "GO:0044326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044326", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "dendritic filopodium", "id": "GO:1902737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902737", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "intracellular non-membrane-bounded organelle", "id": "GO:0043232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043232", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "mRNA 3'-UTR binding", "id": "GO:0003730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003730", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "translation regulator activity", "id": "GO:0045182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045182", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "RNA strand annealing activity", "id": "GO:0033592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033592", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "mRNA 3'-UTR AU-rich region binding", "id": "GO:0035925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035925", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 118, "end_pos": 120, "annotation": "n_glycosylation_sequon" }, { "start_pos": 394, "end_pos": 396, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation at Ser-420 by PAK1 promotes its relocalization to stress granules and activity (PubMed:20417602). Phosphorylated by MAPK1/ERK2, promoting subsequent phosphorylation by GSK3B (By similarity). Phosphorylated by GSK3B, promoting ubiquitination and degradation by the proteasome (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "PubMed", "id": "Q61584", "url": "https://glygen.org/publication/PubMed/Q61584" }, { "database": "PubMed", "id": "20417602", "url": "https://glygen.org/publication/PubMed/20417602" } ] }, { "annotation": "Ubiquitinated by the SCF(FBXO4) complex, leading to its degradation by the proteasome: ubiquitination by the SCF(FBXO4) complex takes place following phosphorylation by GSK3B (PubMed:29142209). Ubiquitinated and degraded in a GSK3B-dependent manner in during both scaling and sleep deprivation (By similarity). Ubiquitinated via 'Lys-63'-linked ubiquitin, leading to its degradation: interaction with CEP63 inhibits 'Lys-63'-linked ubiquitination (PubMed:35989368).", "evidence": [ { "database": "UniProtKB", "id": "P51114", "url": "https://www.uniprot.org/uniprot/P51114" }, { "database": "PubMed", "id": "Q61584", "url": "https://glygen.org/publication/PubMed/Q61584" }, { "database": "PubMed", "id": "29142209", "url": "https://glygen.org/publication/PubMed/29142209" }, { "database": "PubMed", "id": "35989368", "url": "https://glygen.org/publication/PubMed/35989368" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 21 }, { "field": "total_sites", "count": 21 } ], "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": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 55 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }