{ "uniprot_canonical_ac": "P10636-1", "uniprot_ac": "P10636", "uniprot_id": "TAU_HUMAN", "mass": { "chemical_mass": 78928.0, "monoisotopic_mass": 78928.0 }, "refseq": { "ac": "NP_001116538", "name": "microtubule-associated protein tau isoform 6", "summary": "This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, "gene_names": [ { "name": "MAPT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P10636", "id": "P10636" }, { "name": "DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2; PPND; PPP1R103; TAU; tau-40; Tau-PHF6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538", "id": "NP_001116538" }, { "name": "MAPTL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10636", "id": "P10636" }, { "name": "MAPT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538", "id": "NP_001116538" }, { "name": "MTBT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10636", "id": "P10636" }, { "name": "TAU", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P10636", "id": "P10636" } ], "protein_names": [ { "name": "Microtubule-associated protein tau", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P10636" }, { "name": "G protein beta1/gamma2 subunit-interacting factor 1; PHF-tau; paired helical filament-tau; neurofibrillary tangle protein; protein phosphatase 1, regulatory subunit 103; Tau-derived paired helical filament hexapeptide", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538", "id": "NP_001116538" }, { "name": "Neurofibrillary tangle protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10636" }, { "name": "PHF-tau", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10636" }, { "name": "Paired helical filament-tau", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P10636" }, { "name": "microtubule-associated protein tau isoform 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538", "id": "NP_001116538" } ], "function": [ { "annotation": "Amyloid and Tau PET Positivity in Progressive Agrammatic Aphasia and Apraxia of Speech.", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, { "database": "PubMed", "id": "38007664", "url": "https://glygen.org/publication/PubMed/38007664" } ] }, { "annotation": "Association of Tooth Loss with Alzheimer's Disease Tau Pathologies Assessed by Positron Emission Tomography.", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, { "database": "PubMed", "id": "37980663", "url": "https://glygen.org/publication/PubMed/37980663" } ] }, { "annotation": "Clinical Evaluation of Cerebrospinal Fluid p217tau and Neurofilament Light Chain Levels in Patients with Alzheimer's Disease or Other Neurological Diseases.", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, { "database": "PubMed", "id": "38007650", "url": "https://glygen.org/publication/PubMed/38007650" } ] }, { "annotation": "Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, { "database": "PubMed", "id": "38002967", "url": "https://glygen.org/publication/PubMed/38002967" } ] }, { "annotation": "Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization.", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636#function" }, { "database": "PubMed", "id": "21985311", "url": "https://glygen.org/publication/PubMed/21985311" }, { "database": "PubMed", "id": "32961270", "url": "https://glygen.org/publication/PubMed/32961270" } ] }, { "annotation": "Tau filaments from amyotrophic lateral sclerosis/parkinsonism-dementia complex adopt the CTE fold.", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" }, { "database": "PubMed", "id": "38100415", "url": "https://glygen.org/publication/PubMed/38100415" } ] }, { "annotation": "This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" } ] } ], "disease": [ { "disease_id": "DOID:11870", "recommended_name": { "id": "DOID:11870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11870", "name": "Pick's disease", "description": "" }, "synonyms": [ { "id": "DOID:11870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11870", "name": "Dementia in Pick's disease", "description": "" }, { "id": "DOID:11870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11870", "name": "LOBAR ATROPHY OF BRAIN", "description": "" }, { "id": "DOID:11870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11870", "name": "PICK DISEASE OF BRAIN", "description": "" }, { "id": "DOID:11870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11870", "name": "Pick disease", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "Pick disease", "description": "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies." }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "PICK disease of brain", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "Pick disease", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "dementia in Pick's disease", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "lobar atrophy of brain", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "Pick disease of the brain", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "Pick's disease", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "dementia with lobar atrophy and neuronal cytoplasmic inclusions", "description": "" }, { "id": "MONDO:0008243", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008243", "name": "lobar atrophy of the brain", "description": "" }, { "id": "MIM:172700", "resource": "MIM", "url": "https://www.omim.org/entry/172700", "name": "Pick disease of the brain", "description": "Pick disease of the brain" } ], "evidence": [ { "id": "172700", "database": "MIM", "url": "https://www.omim.org/entry/172700" } ] }, { "disease_id": "DOID:678", "recommended_name": { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain." }, "synonyms": [ { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "Steele-Richardson-Olszewski syndrome", "description": "" }, { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "progressive supranuclear ophthalmoplegia", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, 1", "description": "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "PSP", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Richardson syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Steele-Richardson-Olszewski disease", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Steele-Richardson-Olszewski syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "classic PSP syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "classic progressive supranuclear palsy syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, 1", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, type 1", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "PSNP1", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "supranuclear palsy, progressive, 3", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "PSNP3", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "supranuclear palsy, progressive, 3", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "supranuclear palsy, progressive, 2", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "PSNP2", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "supranuclear palsy, progressive, 2", "description": "" }, { "id": "MIM:601104", "resource": "MIM", "url": "https://www.omim.org/entry/601104", "name": "Progressive supranuclear palsy 1", "description": "Progressive supranuclear palsy 1" } ], "evidence": [ { "id": "601104", "database": "MIM", "url": "https://www.omim.org/entry/601104" } ] }, { "disease_id": "DOID:9255", "recommended_name": { "id": "DOID:9255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language." }, "synonyms": [ { "id": "DOID:9255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9255", "name": "Wilhemsen-Lynch disease", "description": "" }, { "id": "DOID:9255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9255", "name": "frontotemporal lobar degeneration", "description": "" }, { "id": "DOID:9255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9255", "name": "multiple system tauopathy with presenile dementia", "description": "" }, { "id": "DOID:9255", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9255", "name": "pallidopontonigral degeneration", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "semantic dementia", "description": "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "dementia, frontotemporal", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "dementia, frontotemporal, with or without parkinsonism", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "semantic primary progressive aphasia", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "semantic variant PPA", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "FTD", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "Ftdp17", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "Ftld with Tau inclusions", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "Pallidopontonigral Degeneration", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "Pick Complex", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "Wilhelmsen-Lynch disease", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "dementia, frontotemporal, with Parkinsonism", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "disinhibition-dementia-Parkinsonism-amyotrophy Complex", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "frontotemporal dementia", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "frontotemporal dementia with Parkinsonism", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "frontotemporal lobar Degeneration with Tau inclusions", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "frontotemporal lobe dementia", "description": "" }, { "id": "MONDO:0010857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010857", "name": "multiple system tauopathy with presenile dementia", "description": "" }, { "id": "MIM:600274", "resource": "MIM", "url": "https://www.omim.org/entry/600274", "name": "Frontotemporal dementia", "description": "Frontotemporal dementia" } ], "evidence": [ { "id": "600274", "database": "MIM", "url": "https://www.omim.org/entry/600274" } ] }, { "disease_id": "MONDO:0009839", "recommended_name": { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "progressive supranuclear palsy-parkinsonism syndrome", "description": "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease." }, "synonyms": [ { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "PSP-p", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "PSP-parkinsonism", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "supranuclear palsy, progressive atypical", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "Parkinson-dementia syndrome", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "Steele-Richardson-Olszewski syndrome, atypical", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "atypical PSP", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "progressive supranuclear palsy atypical", "description": "" }, { "id": "MONDO:0009839", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009839", "name": "supranuclear palsy, progressive, 1, atypical", "description": "" }, { "id": "MIM:260540", "resource": "MIM", "url": "https://www.omim.org/entry/260540", "name": "Parkinson-dementia syndrome", "description": "Parkinson-dementia syndrome" } ], "evidence": [ { "id": "260540", "database": "MIM", "url": "https://www.omim.org/entry/260540" } ] } ], "snv": [ { "evidence": [ { "id": "rs1284201310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284201310" }, { "id": "rs1284201310", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284201310" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 225, "end_pos": 225, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "17", "chr_pos": "46010334", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201458656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201458656" }, { "id": "rs201458656", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201458656" }, { "id": "rs201458656", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201458656#frequency_tab" }, { "id": "rs201458656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201458656" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 380, "end_pos": 380, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "17", "chr_pos": "45987052", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S380", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1483785186", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483785186" }, { "id": "rs1483785186", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483785186#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 525, "end_pos": 525, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "17", "chr_pos": "45996464", "ref_nt": "T", "alt_nt": "null", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "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": "" }, { 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"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", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P10636", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P10636" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"categories": [ "3D Structure" ] }, { "id": "8Q92", "url": "https://www.rcsb.org/structure/8Q92", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q97", "url": "https://www.rcsb.org/structure/8Q97", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q98", "url": "https://www.rcsb.org/structure/8Q98", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q99", "url": "https://www.rcsb.org/structure/8Q99", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9A", "url": "https://www.rcsb.org/structure/8Q9A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9B", "url": "https://www.rcsb.org/structure/8Q9B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9C", "url": "https://www.rcsb.org/structure/8Q9C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9D", "url": "https://www.rcsb.org/structure/8Q9D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9E", "url": "https://www.rcsb.org/structure/8Q9E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9F", "url": "https://www.rcsb.org/structure/8Q9F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9G", "url": "https://www.rcsb.org/structure/8Q9G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9H", "url": "https://www.rcsb.org/structure/8Q9H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9I", "url": "https://www.rcsb.org/structure/8Q9I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9J", "url": "https://www.rcsb.org/structure/8Q9J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9K", "url": "https://www.rcsb.org/structure/8Q9K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9L", "url": "https://www.rcsb.org/structure/8Q9L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9M", "url": "https://www.rcsb.org/structure/8Q9M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8Q9O", "url": "https://www.rcsb.org/structure/8Q9O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8QCP", "url": "https://www.rcsb.org/structure/8QCP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8QCR", "url": "https://www.rcsb.org/structure/8QCR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00418", "url": "http://pfam.xfam.org/family/PF00418", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P10636", "url": "https://pharos.nih.gov/targets/P10636", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P10636", "url": "http://purl.obolibrary.org/obo/PR_P10636", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0G2JMX7", "url": "https://www.uniprot.org/uniprot/A0A0G2JMX7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JMX7-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JMX7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JPD5", "url": "https://www.uniprot.org/uniprot/A0A0G2JPD5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JPD5-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JPD5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JQJ7", "url": "https://www.uniprot.org/uniprot/A0A0G2JQJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JQJ7-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JQJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JS76", "url": "https://www.uniprot.org/uniprot/A0A0G2JS76", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JS76-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JS76-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PJZ2", "url": "https://www.uniprot.org/uniprot/A0A7I2PJZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PJZ2-1", "url": "https://www.uniprot.org/uniprot/A0A7I2PJZ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PLE3", "url": "https://www.uniprot.org/uniprot/A0A7I2PLE3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2PLE3-1", "url": "https://www.uniprot.org/uniprot/A0A7I2PLE3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T936", "url": "https://www.uniprot.org/uniprot/A0A7P0T936", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T936-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T936-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L170", "url": "https://www.uniprot.org/uniprot/I3L170", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L170-1", "url": "https://www.uniprot.org/uniprot/I3L170-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2Z2", "url": "https://www.uniprot.org/uniprot/I3L2Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L2Z2-1", "url": "https://www.uniprot.org/uniprot/I3L2Z2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-1", "url": "https://www.uniprot.org/uniprot/P10636-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-2", "url": "https://www.uniprot.org/uniprot/P10636-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-3", "url": "https://www.uniprot.org/uniprot/P10636-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-4", "url": "https://www.uniprot.org/uniprot/P10636-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-5", "url": "https://www.uniprot.org/uniprot/P10636-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-6", "url": "https://www.uniprot.org/uniprot/P10636-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-7", "url": "https://www.uniprot.org/uniprot/P10636-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-8", "url": "https://www.uniprot.org/uniprot/P10636-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P10636-9", "url": "https://www.uniprot.org/uniprot/P10636-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 758, "header": "sp|P10636-1|TAU_HUMAN Isoform 1 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JMX7-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKHVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSATKQVQRRPPPAGPRSERGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 776, "header": "tr|A0A0G2JMX7-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_2_CTG5", "start_pos": 726280, "end_pos": 664466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618029.3", "url": "https://www.ensembl.org/id/ENST00000618029.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000480217.1", "url": "https://www.ensembl.org/id/ENSP00000480217.1" } ] } }, { "isoform_ac": "A0A0G2JPD5-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKHVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 758, "header": "tr|A0A0G2JPD5-1|A0A0G2JPD5_HUMAN Computationally mapped isoform of Microtubule-associated protein OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_2_CTG5", "start_pos": 726280, "end_pos": 664466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633054.1", "url": "https://www.ensembl.org/id/ENST00000633054.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488081.1", "url": "https://www.ensembl.org/id/ENSP00000488081.1" } ] } }, { "isoform_ac": "A0A0G2JQJ7-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPLLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPNGPSAGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSWVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTPRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 758, "header": "tr|A0A0G2JQJ7-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_1_CTG5", "start_pos": 826002, "end_pos": 764451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627711.2", "url": "https://www.ensembl.org/id/ENST00000627711.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000485913.1", "url": "https://www.ensembl.org/id/ENSP00000485913.1" } ] } }, { "isoform_ac": "A0A0G2JS76-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPLLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPNGPSAGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSWVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTPRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSATKQVQRRPPPAGPRSERGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 776, "header": "tr|A0A0G2JS76-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_1_CTG5", "start_pos": 826002, "end_pos": 764451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629368.2", "url": "https://www.ensembl.org/id/ENST00000629368.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000487403.1", "url": "https://www.ensembl.org/id/ENSP00000487403.1" } ] } }, { "isoform_ac": "A0A7I2PJZ2-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEAEEAGIGDTPSLEDEAAGHVTQEELRVPGRQRKAPERPLANEISAHVQPGPCGEASGVSGPCLGEKEPEAPVPLTASLPQHRPVCPAPPPTGGPQEPSLEWGQKGGDWAEKGPAFPKPATTAYLHTEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 833, "header": "tr|A0A7I2PJZ2-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262410.10", "url": "https://www.ensembl.org/id/ENST00000262410.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000262410.6", "url": "https://www.ensembl.org/id/ENSP00000262410.6" } ] } }, { "isoform_ac": "A0A7I2PLE3-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEAEEAGIGDTPSLEDEAAGHVTQEELRVPGRQRKAPERPLANEISAHVQPGPCGEASGVSGPCLGEKEPEAPVPLTASLPQHRPVCPAPPPTGGPQEPSLEWGQKGGDWAEKGPAFPKPATTAYLHTEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 736, "header": "tr|A0A7I2PLE3-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344290.10", "url": "https://www.ensembl.org/id/ENST00000344290.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000340820.6", "url": "https://www.ensembl.org/id/ENSP00000340820.6" } ] } }, { "isoform_ac": "A0A7P0T936-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPDGVVLSLPRLECNGTISAHCNLHLLDSSNSPVSASQVAGITGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 424, "header": "tr|A0A7P0T936-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680674.1", "url": "https://www.ensembl.org/id/ENST00000680674.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505478.1", "url": "https://www.ensembl.org/id/ENSP00000505478.1" } ] } }, { "isoform_ac": "I3L170-1", "url": "", "sequence": { "sequence": "MFKGKCPKVQRAWFLVNNNCLAFTPLHLLTHTPAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 341, "header": "tr|I3L170-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_2_CTG5", "start_pos": 726280, "end_pos": 680393, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000632122.1", "url": "https://www.ensembl.org/id/ENST00000632122.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488101.1", "url": "https://www.ensembl.org/id/ENSP00000488101.1" } ] } }, { "isoform_ac": "I3L2Z2-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKEGSEFTELRAEEPLI", "length": 59, "header": "tr|I3L2Z2-1|TAU_HUMAN Computationally mapped isoform of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=1 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 45969208, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000571311.5", "url": "https://www.ensembl.org/id/ENST00000571311.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460048.1", "url": "https://www.ensembl.org/id/ENSP00000460048.1" } ] } }, { "isoform_ac": "P10636-1", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 758, "header": "sp|P10636-1|TAU_HUMAN Isoform 1 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000571987.5", "url": "https://www.ensembl.org/id/ENST00000571987.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458742.1", "url": "https://www.ensembl.org/id/ENSP00000458742.1" } ] } }, { "isoform_ac": "P10636-2", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 352, "header": "sp|P10636-2|TAU_HUMAN Isoform 2 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_2_CTG5", "start_pos": 726280, "end_pos": 664466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000633047.1", "url": "https://www.ensembl.org/id/ENST00000633047.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000488245.1", "url": "https://www.ensembl.org/id/ENSP00000488245.1" } ] } }, { "isoform_ac": "P10636-3", "url": "", "sequence": { "sequence": "MLRALQQRKREAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 316, "header": "sp|P10636-3|TAU_HUMAN Isoform 3 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": {} }, { "isoform_ac": "P10636-4", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 381, "header": "sp|P10636-4|TAU_HUMAN Isoform 4 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535772.6", "url": "https://www.ensembl.org/id/ENST00000535772.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000443028.2", "url": "https://www.ensembl.org/id/ENSP00000443028.2" } ] } }, { "isoform_ac": "P10636-5", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 410, "header": "sp|P10636-5|TAU_HUMAN Isoform 5 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_2_CTG5", "start_pos": 726280, "end_pos": 664466, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000620818.4", "url": "https://www.ensembl.org/id/ENST00000620818.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484321.1", "url": "https://www.ensembl.org/id/ENSP00000484321.1" } ] } }, { "isoform_ac": "P10636-6", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 383, "header": "sp|P10636-6|TAU_HUMAN Isoform 6 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_1_CTG5", "start_pos": 826002, "end_pos": 764451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622728.1", "url": "https://www.ensembl.org/id/ENST00000622728.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000479142.1", "url": "https://www.ensembl.org/id/ENSP00000479142.1" } ] } }, { "isoform_ac": "P10636-7", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 412, "header": "sp|P10636-7|TAU_HUMAN Isoform 7 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000420682.7", "url": "https://www.ensembl.org/id/ENST00000420682.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000413056.2", "url": "https://www.ensembl.org/id/ENSP00000413056.2" } ] } }, { "isoform_ac": "P10636-8", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQARMVSKSKDGTGSDDKKAKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 441, "header": "sp|P10636-8|TAU_HUMAN Isoform 8 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "HSCHR17_1_CTG5", "start_pos": 826002, "end_pos": 764451, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621329.4", "url": "https://www.ensembl.org/id/ENST00000621329.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477703.1", "url": "https://www.ensembl.org/id/ENSP00000477703.1" } ] } }, { "isoform_ac": "P10636-9", "url": "", "sequence": { "sequence": "MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPGSETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAGHVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEGGRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPAQDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLEFTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPAAAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSSDPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQKGQANATRIPAKTPPAPKTPPSSATKQVQRRPPPAGPRSERGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREPKKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLDLSNVQSKCGSKDNIKHVPGGGSVQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEKLDFKDRVQSKIGSLDNITHVPGGGNKKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDTSPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL", "length": 776, "header": "sp|P10636-9|TAU_HUMAN Isoform 9 of Microtubule-associated protein tau OS=Homo sapiens OX=9606 GN=MAPT PE=1 SV=5 CANONICAL=P10636-1" }, "locus": { "chromosome": "17", "start_pos": 46024168, "end_pos": 45962338, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415613.6", "url": "https://www.ensembl.org/id/ENST00000415613.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410838.2", "url": "https://www.ensembl.org/id/ENSP00000410838.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 123, "start_aa": "Thr", "end_pos": 123, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr123", "evidence": [ { "id": "P10636", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P10636" }, { "id": "20706749", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20706749" }, { "id": "2885", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2885" } ] }, { "glytoucan_ac": "G49108TO", 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mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.", "journal": "Acta neuropathologica", "date": "1999", "authors": "Delisle MB, Murrell JR, Richardson R, Trofatter JA, Rascol O, Soulages X, Mohr M, Calvas P, Ghetti B", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "10412802", "url": "https://glygen.org/publication/PubMed/10412802" } ] }, { "title": "Changes in nuclear morphology during apoptosis correlate with vimentin cleavage by different caspases located either upstream or downstream of Bcl-2 action.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "1999", "authors": "Morishima N", "evidence": [ { "database": "Reactome", "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870" } ], "reference": [ { "type": "PubMed", "id": "10469173", "url": 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Chem.", "date": "2000", "authors": "Maas T, Eidenm\u00fcller J, Brandt R", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "10747907", "url": "https://glygen.org/publication/PubMed/10747907" } ] }, { "title": "Formation of diffuse and fibrillar tangles in aging and early Alzheimer's disease.", "journal": "Neurobiology of aging", "date": "2000", "authors": "Uboga N V, Price J L", "evidence": [ { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "10794842", "url": "https://glygen.org/publication/PubMed/10794842" } ] }, { "title": "Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.", "journal": "Neurology", "date": "2000", "authors": "Arima K, Kowalska A, Hasegawa M, Mukoyama M, Watanabe R, Kawai M, Takahashi K, Iwatsubo T, Tabira T, Sunohara N", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "10802785", "url": "https://glygen.org/publication/PubMed/10802785" } ] }, { "title": "Cleavage of the actin-capping protein alpha -adducin at Asp-Asp-Ser-Asp633-Ala by caspase-3 is preceded by its phosphorylation on serine 726 in cisplatin-induced apoptosis of renal epithelial cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "van de Water B, Tijdens IB, Verbrugge A, Huigsloot M, Dihal AA, Stevens JL, Jaken S, Mulder GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870" } ], "reference": [ { "type": "PubMed", "id": "10823823", "url": "https://glygen.org/publication/PubMed/10823823" } ] }, { "title": "Identification of the cytolinker plectin as a major early in vivo substrate for caspase 8 during CD95- and tumor necrosis factor receptor-mediated apoptosis.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Stegh AH, Herrmann H, Lampel S, Weisenberger D, Andra K, Seper M, Wiche G, Krammer PH, Peter ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870" } ], "reference": [ { "type": "PubMed", "id": "10891503", "url": "https://glygen.org/publication/PubMed/10891503" } ] }, { "title": "Binding specificity of monoclonal antibody AD2: influence of the phosphorylation state of tau.", "journal": "Brain research. 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Acta", "date": "2000", "authors": "Goedert M, Spillantini M G", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "10899436", "url": "https://glygen.org/publication/PubMed/10899436" } ] }, { "title": "The neuronal microtubule-associated protein tau is a substrate for caspase-3 and an effector of apoptosis.", "journal": "Journal of neurochemistry", "date": "2000", "authors": "Fasulo L, Ugolini G, Visintin M, Bradbury A, Brancolini C, Verzillo V, Novak M, Cattaneo A", "evidence": [ { "database": "Reactome", "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870" } ], "reference": [ { "type": "PubMed", "id": "10899937", "url": "https://glygen.org/publication/PubMed/10899937" } ] }, { "title": "A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.", "journal": "Neurology", "date": "2000", "authors": "Yasuda M, Yokoyama K, Nakayasu T, Nishimura Y, Matsui M, Yokoyama T, Miyoshi K, Tanaka C", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "11071507", "url": "https://glygen.org/publication/PubMed/11071507" } ] }, { "title": "Tau gene mutation K257T causes a tauopathy similar to Pick's disease.", "journal": "Journal of neuropathology and experimental neurology", "date": "2000", "authors": "Rizzini C, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "11089577", "url": "https://glygen.org/publication/PubMed/11089577" } ] }, { "title": "Phosphorylation of tau is regulated by PKN.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Taniguchi T, Kawamata T, Mukai H, Hasegawa H, Isagawa T, 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Biol. 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"date": "2021-03-26", "authors": "Vasconcelos Israel C, Campos Raquel M, Schwaemmle Hanna K, Masson Ana P, Ferrari Gustavo D, Alberici Luciane C, Fa\u00e7a Vitor M, Garcia-Cairasco Norberto, Sebollela Adriano", "evidence": [ { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "33629708", "url": "https://glygen.org/publication/PubMed/33629708" } ] }, { "title": "Phosphorylation and O-GlcNAcylation of the PHF-1 Epitope of Tau Protein Induce Local Conformational Changes of the C-Terminus and Modulate Tau Self-Assembly Into Fibrillar Aggregates.", "journal": "Frontiers in molecular neuroscience", "date": "2021", "authors": "Cantrelle FX, Loyens A, Trivelli X, Reimann O, Despres C, Gandhi NS, Hackenberger CPR, Landrieu I, Smet-Nocca C", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P10636", "url": "https://oglcnac.org/atlas/detail/P10636" }, { "database": "iPTMnet", "id": 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Pathologies Assessed by Positron Emission Tomography.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2023", "authors": "Matsumoto Hideki, Tagai Kenji, Endo Hironobu, Matsuoka Kiwamu, Takado Yuhei, Kokubo Naomi, Shimada Hitoshi, Goto Tetsuya, Goto Tazuko K, Higuchi Makoto", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" } ], "reference": [ { "type": "PubMed", "id": "37980663", "url": "https://glygen.org/publication/PubMed/37980663" } ] }, { "title": "Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.", "journal": "Genes", "date": "2023-10-30", "authors": "Tourtourikov Ivan, Dabchev Kristiyan, Todorov Tihomir, Angelov Teodor, Chamova Teodora, Tournev Ivailo, Kadiyska Tanya, Mitev Vanyo, Todorova Albena", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" } ], "reference": [ { "type": "PubMed", "id": "38002967", "url": 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Clark Heather M, Pham Nha Trang Thu, Machulda Mary M, Botha Hugo, Jack Clifford R, Dickson Dennis W, Lowe Val J, Josephs Keith A, Whitwell Jennifer L, Utianski Rene L", "evidence": [ { "database": "RefSeq", "id": "NP_001116538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116538" } ], "reference": [ { "type": "PubMed", "id": "38007664", "url": "https://glygen.org/publication/PubMed/38007664" } ] }, { "title": "Tau filaments from amyotrophic lateral sclerosis/parkinsonism-dementia complex adopt the CTE fold.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-12-19", "authors": "Qi Chao, Verheijen Bert M, Kokubo Yasumasa, Shi Yang, Tetter Stephan, Murzin Alexey G, Nakahara Asa, Morimoto Satoru, Vermulst Marc, Sasaki Ryogen, Aronica Eleonora, Hirokawa Yoshifumi, Oyanagi Kiyomitsu, Kakita Akiyoshi, Ryskeldi-Falcon Benjamin, Yoshida Mari, Hasegawa Masato, Scheres Sjors H W, Goedert Michel", "evidence": [ { "database": 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A novel protein kinase that regulates tau-microtubule interactions and dynamic instability by phosphorylation at the Alzheimer-specific site serine 262.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Drewes G, Trinczek B, Illenberger S, Biernat J, Schmitt-Ulms G, Meyer HE, Mandelkow EM, Mandelkow E", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "7706316", "url": "https://glygen.org/publication/PubMed/7706316" } ] }, { "title": "AD2, a phosphorylation-dependent monoclonal antibody directed against tau proteins found in Alzheimer's disease.", "journal": "Brain research. Molecular brain research", "date": "1996-07", "authors": "Bu\u00e9e-Scherrer V, Condamines O, Mourton-Gilles C, Jakes R, Goedert M, Pau B, Delacourte A", "evidence": [ { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "8804716", "url": "https://glygen.org/publication/PubMed/8804716" } ] }, { "title": "Sequential changes of tau-site-specific phosphorylation during development of paired helical filaments.", "journal": "Dementia (Basel, Switzerland)", "date": "1996", "authors": "Kimura T, Ono T, Takamatsu J, Yamamoto H, Ikegami K, Kondo A, Hasegawa M, Ihara Y, Miyamoto E, Miyakawa T", "evidence": [ { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "8835879", "url": "https://glygen.org/publication/PubMed/8835879" } ] }, { "title": "Monoclonal antibody PHF-9 recognizes phosphorylated serine 404 of tau protein and labels paired helical filaments.", "journal": "Journal of neuroscience research", "date": "1996-10-01", "authors": "Zemlan F P, Dean G E", "evidence": [ { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "8892109", "url": "https://glygen.org/publication/PubMed/8892109" } ] }, { "title": "The regulatory Ser262 of microtubule-associated protein tau is phosphorylated by phosphorylase kinase.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Paudel HK", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "8999860", "url": "https://glygen.org/publication/PubMed/8999860" } ] }, { "title": 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Biochem. Biophys.", "date": "1998", "authors": "Sengupta A, Kabat J, Novak M, Wu Q, Grundke-Iqbal I, Iqbal K", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "iPTMnet", "id": "P10636", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10636" } ], "reference": [ { "type": "PubMed", "id": "9735171", "url": "https://glygen.org/publication/PubMed/9735171" } ] }, { "title": "Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.", "journal": "Human molecular genetics", "date": "1998", "authors": "Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": "PubMed", "id": "9736786", "url": 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of vascular smooth muscle cells exposed to proinflammatory cytokines.", "journal": "European journal of cell biology", "date": "1998", "authors": "Geng YJ, Azuma T, Tang JX, Hartwig JH, Muszynski M, Wu Q, Libby P, Kwiatkowski DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-264870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-264870" } ], "reference": [ { "type": "PubMed", "id": "9930654", "url": "https://glygen.org/publication/PubMed/9930654" } ] }, { "title": "High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.", "journal": "American journal of human genetics", "date": "1999", "authors": "Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A, Niermeijer MF, Hillebrand M, Ravid R, Oostra BA, Goedert M, van Duijn CM, Heutink P", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "reference": [ { "type": 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"evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "main axon", "id": "GO:0044304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044304", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "neurofibrillary tangle", "id": "GO:0097418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097418", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "glial cell projection", "id": "GO:0097386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097386", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "tubulin complex", "id": "GO:0045298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045298", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 23, "go_terms": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "phosphatidylinositol bisphosphate binding", "id": "GO:1902936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902936", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "minor groove of adenine-thymine-rich DNA binding", "id": "GO:0003680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003680", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "histone-dependent DNA binding", "id": "GO:0099077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099077", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "single-stranded DNA binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "microtubule lateral binding", "id": "GO:0099609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099609", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "dynactin binding", "id": "GO:0034452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034452", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 55, "go_terms": [ { "name": "regulation of microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ 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{ "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of mitochondrial fission", "id": "GO:0090140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090140", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of establishment of protein localization to mitochondrion", "id": "GO:1903748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903748", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "activation of cysteine-type endopeptidase activity involved in apoptotic process", "id": "GO:0006919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006919", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of microtubule polymerization", "id": "GO:0031113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031113", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of kinase activity", "id": "GO:0033673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033673", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "rRNA metabolic process", "id": "GO:0016072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016072", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of protein localization to synapse", "id": "GO:1902474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902474", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "plus-end-directed organelle transport along microtubule", "id": "GO:0072386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072386", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "axonal transport", "id": "GO:0098930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098930", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "neurofibrillary tangle assembly", "id": "GO:1902988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902988", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" }, { "name": "positive regulation of diacylglycerol kinase activity", "id": "GO:1905689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905689", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 484, "end_pos": 486, "annotation": "n_glycosylation_sequon" }, { "start_pos": 676, "end_pos": 678, "annotation": "n_glycosylation_sequon" }, { "start_pos": 727, "end_pos": 729, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-glycosylated. O-GlcNAcylation content is around 8.2%. There is reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces O-GlcNAcylation by a factor of 2 and 4 respectively. O-GlcNAcylation on Ser-717 decreases the phosphorylation on Ser-721 by about 41.5%.", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "PubMed", "id": "19451179", "url": "https://glygen.org/publication/PubMed/19451179" }, { "database": "PubMed", "id": "9614189", "url": "https://glygen.org/publication/PubMed/9614189" }, { "database": "PubMed", "id": "21327254", "url": "https://glygen.org/publication/PubMed/21327254" }, { "database": "PubMed", "id": "16443603", "url": "https://glygen.org/publication/PubMed/16443603" }, { "database": "PubMed", "id": "15546861", "url": "https://glygen.org/publication/PubMed/15546861" }, { "database": "PubMed", "id": "14761950", "url": "https://glygen.org/publication/PubMed/14761950" } ] }, { "annotation": "Phosphorylation at serine and threonine residues in S-P or T-P motifs by proline-directed protein kinases (PDPK1, CDK1, CDK5, GSK3, MAPK) (only 2-3 sites per protein in interphase, seven-fold increase in mitosis, and in the form associated with paired helical filaments (PHF-tau)), and at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1, MARK2, MARK3 or MARK4), causing detachment from microtubules, and their disassembly (PubMed:7706316, PubMed:23666762). Phosphorylation decreases with age. Phosphorylation within tau/MAP's repeat domain or in flanking regions seems to reduce tau/MAP's interaction with, respectively, microtubules or plasma membrane components (PubMed:7706316). Phosphorylation on Ser-610, Ser-622, Ser-641 and Ser-673 in several isoforms during mitosis. Phosphorylation at Ser-548 by GSK3B reduces ability to bind and stabilize microtubules. Phosphorylation at Ser-579 by BRSK1 and BRSK2 in neurons affects ability to bind microtubules and plays a role in neuron polarization. Phosphorylated at Ser-554, Ser-579, Ser-602, Ser-606 and Ser-669 by PHK. Phosphorylation at Ser-214 by SGK1 mediates microtubule depolymerization and neurite formation in hippocampal neurons. There is a reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces glycosylation by a factor of 2 and 4 respectively. Phosphorylation on Ser-721 is reduced by about 41.5% by GlcNAcylation on Ser-717. Dephosphorylated at several serine and threonine residues by the serine/threonine phosphatase PPP5C.", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "PubMed", "id": "21985311", "url": "https://glygen.org/publication/PubMed/21985311" }, { "database": "PubMed", "id": "7706316", "url": "https://glygen.org/publication/PubMed/7706316" }, { "database": "PubMed", "id": "19451179", "url": "https://glygen.org/publication/PubMed/19451179" }, { "database": "PubMed", "id": "9614189", "url": "https://glygen.org/publication/PubMed/9614189" }, { "database": "PubMed", "id": "23666762", "url": "https://glygen.org/publication/PubMed/23666762" }, { "database": "PubMed", "id": "21327254", "url": "https://glygen.org/publication/PubMed/21327254" }, { "database": "PubMed", "id": "16443603", "url": "https://glygen.org/publication/PubMed/16443603" }, { "database": "PubMed", "id": "14690523", "url": "https://glygen.org/publication/PubMed/14690523" }, { "database": "PubMed", "id": "16982696", "url": "https://glygen.org/publication/PubMed/16982696" }, { "database": "PubMed", "id": "15546861", "url": "https://glygen.org/publication/PubMed/15546861" }, { "database": "PubMed", "id": "8999860", "url": "https://glygen.org/publication/PubMed/8999860" }, { "database": "PubMed", "id": "14761950", "url": "https://glygen.org/publication/PubMed/14761950" } ] }, { "annotation": "Polyubiquitinated. Requires functional TRAF6 and may provoke SQSTM1-dependent degradation by the proteasome (By similarity). PHF-tau can be modified by three different forms of polyubiquitination. 'Lys-48'-linked polyubiquitination is the major form, 'Lys-6'-linked and 'Lys-11'-linked polyubiquitination also occur.", "evidence": [ { "database": "UniProtKB", "id": "P10636", "url": "https://www.uniprot.org/uniprot/P10636" }, { "database": "PubMed", "id": "15953362", "url": "https://glygen.org/publication/PubMed/15953362" }, { "database": "PubMed", "id": "16443603", "url": "https://glygen.org/publication/PubMed/16443603" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 123, 238, 400, 525, 555, 717 ], "snv_sites": [ 225, 380, 525, 574, 598, 600, 735 ], "glycation_sites": [ 87, 383, 467, 480, 491, 542, 551, 576, 597, 598, 664, 670, 686 ], "phosphorylation_sites": [ 18, 29, 46, 61, 69, 71, 111, 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"count": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "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": 6 } ], "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": [ { 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"total_sites", "count": 7 } ], "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": 3 }, { "field": "total_sites", "count": 3 } ], "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": 4 }, { "field": "total_sites", "count": 4 } ], "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": 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