{ "uniprot_canonical_ac": "Q921F2-1", "uniprot_ac": "Q921F2", "uniprot_id": "TADBP_MOUSE", "mass": { "chemical_mass": 44548.0, "monoisotopic_mass": 44548.0 }, "refseq": { "ac": "NP_001003898", "name": "TAR DNA-binding protein 43 isoform 5", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, "gene_names": [ { "name": "Tardbp", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q921F2", "id": "Q921F2" }, { "name": "1190002A23Rik; TDP-43; Tdp43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546", "id": "NP_001008546" }, { "name": "TARDBP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q921F2", "id": "Q921F2" }, { "name": "Tardbp", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546", "id": "NP_001008546" }, { "name": "Tdp43", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q921F2", "id": "Q921F2" } ], "protein_names": [ { "name": "TAR DNA-binding protein 43", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q921F2" }, { "name": "TAR DNA-binding protein 43 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545", "id": "NP_001008545" }, { "name": "TAR DNA-binding protein 43 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899", "id": "NP_001003899" }, { "name": "TAR DNA-binding protein 43 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546", "id": "NP_001008546" }, { "name": "TAR DNA-binding protein 43 isoform 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898", "id": "NP_001003898" }, { "name": "TAR DNA-binding protein 43", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898", "id": "NP_001003898" }, { "name": "TDP-43", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q921F2" } ], "function": [ { "annotation": "Loss of TDP-43 promotes somatic CAG repeat expansion in Huntington's disease knock-in mice.", "evidence": [ { "database": "RefSeq", "id": "NP_001008546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546" }, { "database": "PubMed", "id": "37315918", "url": "https://glygen.org/publication/PubMed/37315918" }, { "database": "RefSeq", "id": "NP_001008545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545" }, { "database": "RefSeq", "id": "NP_001003898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, { "database": "RefSeq", "id": "NP_001003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899" } ] }, { "annotation": "Polycomb Group Protein CBX7 Represses Cardiomyocyte Proliferation Through Modulation of the TARDBP/RBM38 Axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001008546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546" }, { "database": "PubMed", "id": "37158107", "url": "https://glygen.org/publication/PubMed/37158107" }, { "database": "RefSeq", "id": "NP_001008545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545" }, { "database": "RefSeq", "id": "NP_001003898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, { "database": "RefSeq", "id": "NP_001003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899" } ] }, { "annotation": "RNA-binding protein that is involved in various steps of RNA biogenesis and processing. Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs. In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases. Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts. Regulates also mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening. In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (By similarity). Participates also in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980). Negatively regulates the expression of CDK6 (By similarity). Regulates the expression of HDAC6, ATG7 and VCP in a PPIA/CYPA-dependent manner (PubMed:25678563).", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2#function" }, { "database": "UniProtKB", "id": "Q13148", "url": "https://www.uniprot.org/uniprot/Q13148#function" }, { "database": "PubMed", "id": "25678563", "url": "https://glygen.org/publication/PubMed/25678563" }, { "database": "PubMed", "id": "27123980", "url": "https://glygen.org/publication/PubMed/27123980" }, { "database": "PubMed", "id": "30464263", "url": "https://glygen.org/publication/PubMed/30464263" } ] }, { "annotation": "TDP-43 differentially propagates to induce antero- and retrograde degeneration in the corticospinal circuits in mouse focal ALS models.", "evidence": [ { "database": "RefSeq", "id": "NP_001008546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546" }, { "database": "PubMed", "id": "37555859", "url": "https://glygen.org/publication/PubMed/37555859" }, { "database": "RefSeq", "id": "NP_001008545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545" }, { "database": "RefSeq", "id": "NP_001003898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, { "database": "RefSeq", "id": "NP_001003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899" } ] }, { "annotation": "Traumatic brain injury induces TDP-43 mislocalization and neurodegenerative effects in tissue distal to the primary injury site in a non-transgenic mouse. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001008546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546" }, { "database": "PubMed", "id": "37608352", "url": "https://glygen.org/publication/PubMed/37608352" }, { "database": "RefSeq", "id": "NP_001008545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545" }, { "database": "RefSeq", "id": "NP_001003898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, { "database": "RefSeq", "id": "NP_001003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899" } ] } ], "disease": [ { "disease_id": "DOID:0060201", "recommended_name": { "id": "DOID:0060201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060201", "name": "amyotrophic lateral sclerosis type 10", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1." }, "synonyms": [ { "id": "DOID:0060201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060201", "name": "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions", "description": "" }, { "id": "DOID:0060201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060201", "name": "ALS10", "description": "" }, { "id": "DOID:0060201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060201", "name": "amyotrophic lateral sclerosis 10", "description": "" }, { "id": "DOID:0060201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060201", "name": "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis type 10", "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene." }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "ALS10", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "TARDBP amyotrophic lateral sclerosis", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis 10", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis 10, with or without FTD", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis caused by mutation in TARDBP", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis type 10", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "frontotemporal lobar degeneration, TARDBP-related", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "Ftld-TDP, Tardbp-related", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "frontotemporal dementia with Tdp43 inclusions, Tardbp-related", "description": "" }, { "id": "MONDO:0012790", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012790", "name": "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related", "description": "" }, { "id": "MIM:612069", "resource": "MIM", "url": "https://www.omim.org/entry/612069", "name": "Amyotrophic lateral sclerosis 10", "description": "Amyotrophic lateral sclerosis 10" } ], "evidence": [ { "id": "0060201", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060201" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "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": "11870", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "evidence": [ { "id": "12217", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:1289", "recommended_name": { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." }, "synonyms": [ { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "degenerative disease", "description": "" } ], "evidence": [ { "id": "1289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:231", "recommended_name": { "id": "DOID:231", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons." }, "synonyms": [], "evidence": [ { "id": "231", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:231" } ] }, { "disease_id": "DOID:332", "recommended_name": { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." }, "synonyms": [ { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "ALS", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "Lou Gehrig's disease", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "motor neuron disease, bulbar", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WRZ5-1", "url": "https://www.uniprot.org/uniprot/A0A087WRZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS17", "url": "https://www.uniprot.org/uniprot/A0A087WS17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS17-1", "url": "https://www.uniprot.org/uniprot/A0A087WS17-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS74", "url": "https://www.uniprot.org/uniprot/A0A087WS74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WS74-1", "url": "https://www.uniprot.org/uniprot/A0A087WS74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSC6", "url": "https://www.uniprot.org/uniprot/A0A087WSC6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSC6-1", "url": "https://www.uniprot.org/uniprot/A0A087WSC6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSE4", "url": "https://www.uniprot.org/uniprot/A0A087WSE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSE4-1", "url": "https://www.uniprot.org/uniprot/A0A087WSE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSH7", "url": "https://www.uniprot.org/uniprot/A0A087WSH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WSH7-1", "url": "https://www.uniprot.org/uniprot/A0A087WSH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJV1", "url": "https://www.uniprot.org/uniprot/H3BJV1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BJV1-1", "url": "https://www.uniprot.org/uniprot/H3BJV1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6VYI4", "url": "https://www.uniprot.org/uniprot/Q6VYI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6VYI4-1", "url": "https://www.uniprot.org/uniprot/Q6VYI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6VYI5", "url": "https://www.uniprot.org/uniprot/Q6VYI5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6VYI5-1", "url": "https://www.uniprot.org/uniprot/Q6VYI5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BLD4", "url": "https://www.uniprot.org/uniprot/Q8BLD4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BLD4-1", "url": "https://www.uniprot.org/uniprot/Q8BLD4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8R0B4", "url": "https://www.uniprot.org/uniprot/Q8R0B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8R0B4-1", "url": "https://www.uniprot.org/uniprot/Q8R0B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q921F2-1", "url": "https://www.uniprot.org/uniprot/Q921F2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLGNNQGGNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQSQGSMQREPNQAFGSGNNSYSGSNSGAPLGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM", "length": 414, "header": "sp|Q921F2-1|TADBP_MOUSE Isoform 1 of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "isoforms": [ { "isoform_ac": "A0A087WNY6-1", "url": "", "sequence": { "sequence": "QQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGVHLISNVYGRSTSLKVVL", "length": 88, "header": "tr|A0A087WNY6-1|TADBP_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148703733, "end_pos": 148702110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000186729.7", "url": "https://www.ensembl.org/id/ENSMUST00000186729.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139547.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139547.2" } ] } }, { "isoform_ac": "A0A087WP57-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKGQERS", "length": 84, "header": "tr|A0A087WP57-1|A0A087WP57_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148705176, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000190696.7", "url": "https://www.ensembl.org/id/ENSMUST00000190696.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139637.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139637.2" } ] } }, { "isoform_ac": "A0A087WQ63-1", "url": "", "sequence": { "sequence": "FGGNPGGFGNQGKSPFGRS", "length": 19, "header": "tr|A0A087WQ63-1|TADBP_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148703137, "end_pos": 148702260, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000186711.2", "url": "https://www.ensembl.org/id/ENSMUST00000186711.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140057.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140057.2" } ] } }, { "isoform_ac": "A0A087WQA5-1", "url": "", "sequence": { "sequence": "XDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGVQYEAFI", "length": 200, "header": "tr|A0A087WQA5-1|A0A087WQA5_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148706554, "end_pos": 148702174, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000185824.7", "url": "https://www.ensembl.org/id/ENSMUST00000185824.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140110.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140110.2" } ] } }, { "isoform_ac": "A0A087WQT4-1", "url": "", "sequence": { "sequence": "XAPLGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM", "length": 35, "header": "tr|A0A087WQT4-1|A0A087WQT4_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=4 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148702824, "end_pos": 148702720, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000147391.3", "url": "https://www.ensembl.org/id/ENSMUST00000147391.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140333.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140333.2" } ] } }, { "isoform_ac": "A0A087WQX8-1", "url": "", "sequence": { "sequence": "XEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGKSPFGRS", "length": 85, "header": "tr|A0A087WQX8-1|A0A087WQX8_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148703743, "end_pos": 148702258, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000190630.7", "url": "https://www.ensembl.org/id/ENSMUST00000190630.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140385.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140385.2" } ] } }, { "isoform_ac": "A0A087WR97-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLG", "length": 243, "header": "tr|A0A087WR97-1|A0A087WR97_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148703063, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000186947.7", "url": "https://www.ensembl.org/id/ENSMUST00000186947.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140529.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140529.2" } ] } }, { "isoform_ac": "A0A087WRP4-1", "url": "", "sequence": { "sequence": "XRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPVQYEAFI", "length": 138, "header": "tr|A0A087WRP4-1|A0A087WRP4_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148705142, "end_pos": 148702173, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000191378.7", "url": "https://www.ensembl.org/id/ENSMUST00000191378.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140718.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140718.2" } ] } }, { "isoform_ac": "A0A087WRZ5-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGKSPFGRS", "length": 285, "header": "tr|A0A087WRZ5-1|A0A087WRZ5_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702260, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000191450.7", "url": "https://www.ensembl.org/id/ENSMUST00000191450.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140832.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140832.2" } ] } }, { "isoform_ac": "A0A087WS17-1", "url": "", "sequence": { "sequence": "XPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHESTI", "length": 78, "header": "tr|A0A087WS17-1|A0A087WS17_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148703807, "end_pos": 148702187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000190287.2", "url": "https://www.ensembl.org/id/ENSMUST00000190287.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140859.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140859.2" } ] } }, { "isoform_ac": "A0A087WS74-1", "url": "", "sequence": { "sequence": "CKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGILLSTCFLIQEFVITLHRLRL", "length": 128, "header": "tr|A0A087WS74-1|A0A087WS74_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148705069, "end_pos": 148702028, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000187939.7", "url": "https://www.ensembl.org/id/ENSMUST00000187939.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140928.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140928.2" } ] } }, { "isoform_ac": "A0A087WSC6-1", "url": "", "sequence": { "sequence": "XEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPALFALLLSSSNMVTLKWFSGTSKDGQESWGSQTGGSFSPLELVQNPSASHTYLPASHWKSKNV", "length": 99, "header": "tr|A0A087WSC6-1|A0A087WSC6_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148703228, "end_pos": 148697077, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000188488.2", "url": "https://www.ensembl.org/id/ENSMUST00000188488.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140989.2", "url": "https://www.ensembl.org/id/ENSMUSP00000140989.2" } ] } }, { "isoform_ac": "A0A087WSE4-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGF", "length": 149, "header": "tr|A0A087WSE4-1|TADBP_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148705145, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000185673.2", "url": "https://www.ensembl.org/id/ENSMUST00000185673.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000141010.2", "url": "https://www.ensembl.org/id/ENSMUSP00000141010.2" } ] } }, { "isoform_ac": "A0A087WSH7-1", "url": "", "sequence": { "sequence": "KDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGVHLISNVYGRSTSLKVVL", "length": 175, "header": "tr|A0A087WSH7-1|TADBP_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148706447, "end_pos": 148702110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000190552.7", "url": "https://www.ensembl.org/id/ENSMUST00000190552.7" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000141052.2", "url": "https://www.ensembl.org/id/ENSMUSP00000141052.2" } ] } }, { "isoform_ac": "H3BJV1-1", "url": "", "sequence": { "sequence": "FVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGKSPFGRS", "length": 140, "header": "tr|H3BJV1-1|H3BJV1_MOUSE Computationally mapped isoform of TAR DNA binding protein OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=2 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148705147, "end_pos": 148702260, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000140897.8", "url": "https://www.ensembl.org/id/ENSMUST00000140897.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000135135.3", "url": "https://www.ensembl.org/id/ENSMUSP00000135135.3" } ] } }, { "isoform_ac": "Q6VYI4-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQVHLISNVYGRSTSLKVVL", "length": 304, "header": "tr|Q6VYI4-1|Q6VYI4_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000172073.8", "url": "https://www.ensembl.org/id/ENSMUST00000172073.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000130963.2", "url": "https://www.ensembl.org/id/ENSMUSP00000130963.2" } ] } }, { "isoform_ac": "Q6VYI5-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGILLSTCFLIQEFVITLHRLRL", "length": 302, "header": "tr|Q6VYI5-1|Q6VYI5_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702028, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000105700.8", "url": "https://www.ensembl.org/id/ENSMUST00000105700.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000101325.2", "url": "https://www.ensembl.org/id/ENSMUSP00000101325.2" } ] } }, { "isoform_ac": "Q8BLD4-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPVHLISNVYGRSTSLKVVL", "length": 298, "header": "tr|Q8BLD4-1|Q8BLD4_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000165113.8", "url": "https://www.ensembl.org/id/ENSMUST00000165113.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000129342.2", "url": "https://www.ensembl.org/id/ENSMUSP00000129342.2" } ] } }, { "isoform_ac": "Q8R0B4-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGVHLISNVYGRSTSLKVVL", "length": 295, "header": "tr|Q8R0B4-1|Q8R0B4_MOUSE Computationally mapped isoform of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702110, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000105699.8", "url": "https://www.ensembl.org/id/ENSMUST00000105699.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000101324.2", "url": "https://www.ensembl.org/id/ENSMUSP00000101324.2" } ] } }, { "isoform_ac": "Q921F2-1", "url": "", "sequence": { "sequence": "MSEYIRVTEDENDEPIEIPSEDDGTVLLSTVTAQFPGACGLRYRNPVSQCMRGVRLVEGILHAPDAGWGNLVYVVNYPKDNKRKMDETDASSAVKVKRAVQKTSDLIVLGLPWKTTEQDLKDYFSTFGEVLMVQVKKDLKTGHSKGFGFVRFTEYETQVKVMSQRHMIDGRWCDCKLPNSKQSPDEPLRSRKVFVGRCTEDMTAEELQQFFCQYGEVVDVFIPKPFRAFAFVTFADDKVAQSLCGEDLIIKGISVHISNAEPKHNSNRQLERSGRFGGNPGGFGNQGGFGNSRGGGAGLGNNQGGNMGGGMNFGAFSINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQSQGSMQREPNQAFGSGNNSYSGSNSGAPLGWGSASNAGSGSGFNGGFGSSMDSKSSGWGM", "length": 414, "header": "sp|Q921F2-1|TADBP_MOUSE Isoform 1 of TAR DNA-binding protein 43 OS=Mus musculus OX=10090 GN=Tardbp PE=1 SV=1 CANONICAL=Q921F2-1" }, "locus": { "chromosome": "4", "start_pos": 148709819, "end_pos": 148702721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000084125", "url": "https://www.ensembl.org/id/ENSMUST00000084125" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000081142", "url": "https://www.ensembl.org/id/ENSMUSP00000081142" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q921F2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921F2" }, { "id": "24788674", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24788674" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "25153642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25153642" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" } ] } ], "phosphorylation": [ { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "site_lbl": "Ser183" }, { "start_pos": 292, "end_pos": 292, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "site_lbl": "Ser292" }, { "start_pos": 403, "end_pos": 403, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" }, { "database": "PubMed", "id": "22198567", "url": "https://glygen.org/publication/PubMed/22198567" }, { "database": "PubMed", "id": "26102026", "url": "https://glygen.org/publication/PubMed/26102026" }, { "database": "PubMed", "id": "32562018", "url": "https://glygen.org/publication/PubMed/32562018" } ], "site_lbl": "Ser403" }, { "start_pos": 404, "end_pos": 404, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" }, { "database": "PubMed", "id": "22198567", "url": "https://glygen.org/publication/PubMed/22198567" }, { "database": "PubMed", "id": "32562018", "url": "https://glygen.org/publication/PubMed/32562018" } ], "site_lbl": "Ser404" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" }, { "database": "PubMed", "id": "26102026", "url": "https://glygen.org/publication/PubMed/26102026" }, { "database": "PubMed", "id": "28409281", "url": "https://glygen.org/publication/PubMed/28409281" }, { "database": "PubMed", "id": "32081878", "url": "https://glygen.org/publication/PubMed/32081878" }, { "database": "PubMed", "id": "32562018", "url": "https://glygen.org/publication/PubMed/32562018" }, { "database": "PubMed", "id": "33228809", "url": "https://glygen.org/publication/PubMed/33228809" } ], "site_lbl": "Ser409" }, { "start_pos": 410, "end_pos": 410, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" }, { "database": "PubMed", "id": "23666556", "url": "https://glygen.org/publication/PubMed/23666556" }, { "database": "PubMed", "id": "28409281", "url": "https://glygen.org/publication/PubMed/28409281" }, { "database": "PubMed", "id": "32081878", "url": "https://glygen.org/publication/PubMed/32081878" }, { "database": "PubMed", "id": "32562018", "url": "https://glygen.org/publication/PubMed/32562018" } ], "site_lbl": "Ser410" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Structural insights into TDP-43 in nucleic-acid binding and domain interactions.", "journal": "Nucleic Acids Res.", "date": "2009", "authors": "Wang Y.T., Shen C.K., Doudeva L.G., Kuo P.H., Yuan H.S.", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "19174564", "url": "https://glygen.org/publication/PubMed/19174564" } ] }, { "title": "A tissue-specific atlas of mouse protein phosphorylation and expression.", "journal": "Cell", "date": "2010", "authors": "Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" }, { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] }, { "title": "Oxidative stress induced by glutathione depletion reproduces pathological modifications of TDP-43 linked to TDP-43 proteinopathies.", "journal": "Neurobiology of disease", "date": "2012-03", "authors": "Iguchi Yohei, Katsuno Masahisa, Takagi Shinnosuke, Ishigaki Shinsuke, Niwa Jun-ichi, Hasegawa Masato, Tanaka Fumiaki, Sobue Gen", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "22198567", "url": "https://glygen.org/publication/PubMed/22198567" } ] }, { "title": "The testis-specific double bromodomain-containing protein BRDT forms a complex with multiple spliceosome components and is required for mRNA splicing and 3'-UTR truncation in round spermatids.", "journal": "Nucleic Acids Res.", "date": "2012", "authors": "Wang L., Wolgemuth D.J., Berkovits B.D., Guarnieri P.", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "22570411", "url": "https://glygen.org/publication/PubMed/22570411" } ] }, { "title": "Global identification and characterization of both O-GlcNAcylation and phosphorylation at the murine synapse.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Trinidad JC, Barkan DT, Gulledge BF, Thalhammer A, Sali A, Schoepfer R, Burlingame AL", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q921F2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921F2" } ], "reference": [ { "type": "PubMed", "id": "22645316", "url": "https://glygen.org/publication/PubMed/22645316" } ] }, { "title": "Loss of TDP-43 causes age-dependent progressive motor neuron degeneration.", "journal": "Brain", "date": "2013", "authors": "Watanabe H., Takagi S., Kawai K., Sasaki S., Tanaka F., Niwa J., Sobue G., Takahashi R., Misawa H., Yamanaka K., Ikenaka K., Ishigaki S., Katsuno M., Iguchi Y.", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "23449777", "url": "https://glygen.org/publication/PubMed/23449777" } ] }, { "title": "Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy.", "journal": "Acta neuropathologica", "date": "2013", "authors": "Clippinger AK, D'Alton S, Lin WL, Gendron TF, Howard J, Borchelt DR, Cannon A, Carlomagno Y, Chakrabarty P, Cook C, Golde TE, Levites Y, Ranum L, Schultheis PJ, Xu G, Petrucelli L, Sahara N, Dickson DW, Giasson B, Lewis J", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "23666556", "url": "https://glygen.org/publication/PubMed/23666556" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Mol. Cell. Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" }, { "database": "UniProtKB", "id": "A0A087WR97", "url": "https://www.uniprot.org/uniprot/A0A087WR97" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Identification of O-GlcNAc modification targets in mouse retinal pericytes: implication of p53 in pathogenesis of diabetic retinopathy.", "journal": "PloS one", "date": "2014", "authors": "Gurel Z, Zaro BW, Pratt MR, Sheibani N", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q921F2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921F2" } ], "reference": [ { "type": "PubMed", "id": "24788674", "url": "https://glygen.org/publication/PubMed/24788674" } ] }, { "title": "Changes in metabolic chemical reporter structure yield a selective probe of O-GlcNAc modification.", "journal": "Journal of the American Chemical Society", "date": "2014", "authors": "Chuh KN, Zaro BW, Piller F, Piller V, Pratt MR", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q921F2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921F2" } ], "reference": [ { "type": "PubMed", "id": "25153642", "url": "https://glygen.org/publication/PubMed/25153642" } ] }, { "title": "Peptidylprolyl isomerase A governs TARDBP function and assembly in heterogeneous nuclear ribonucleoprotein complexes.", "journal": "Brain", "date": "2015", "authors": "Lauranzano E, Pozzi S, Pasetto L, Stucchi R, Massignan T, Paolella K, Mombrini M, Nardo G, Lunetta C, Corbo M, Mora G, Bendotti C, Bonetto V", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "25678563", "url": "https://glygen.org/publication/PubMed/25678563" } ] }, { "title": "A phosphomimetic mutant TDP-43 (S409/410E) induces Drosha instability and cytotoxicity in Neuro 2A cells.", "journal": "Biochemical and biophysical research communications", "date": "2015", "authors": "Kim KY, Lee HW, Shim YM, Mook-Jung I, Jeon GS, Sung JJ", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "26102026", "url": "https://glygen.org/publication/PubMed/26102026" } ] }, { "title": "USP7 and TDP-43: pleiotropic regulation of cryptochrome protein stability paces the oscillation of the mammalian circadian clock.", "journal": "PLoS ONE", "date": "2016", "authors": "Hirano A, Nakagawa T, Yoshitane H, Oyama M, Kozuka-Hata H, Lanjakornsiripan D, Fukada Y", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "27123980", "url": "https://glygen.org/publication/PubMed/27123980" } ] }, { "title": "Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.", "journal": "Acta neuropathologica", "date": "2017", "authors": "Schludi MH, Becker L, Garrett L, Gendron TF, Zhou Q, Schreiber F, Popper B, Dimou L, Strom TM, Winkelmann J, von Thaden A, Rentzsch K, May S, Michaelsen M, Schwenk BM, Tan J, Schoser B, Dieterich M, Petrucelli L, Holter SM, Wurst W, Fuchs H, Gailus-Durner V, de Angelis MH, Klopstock T, Arzberger T, Edbauer D", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "28409281", "url": "https://glygen.org/publication/PubMed/28409281" } ] }, { "title": "Profiling of Protein O-GlcNAcylation in Murine CD8(+) Effector- and Memory-like T Cells.", "journal": "ACS chemical biology", "date": "2017", "authors": "Lopez Aguilar A, Gao Y, Hou X, Lauvau G, Yates JR, Wu P", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q921F2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q921F2" } ], "reference": [ { "type": "PubMed", "id": "29125738", "url": "https://glygen.org/publication/PubMed/29125738" } ] }, { "title": "TDP-43 and RNA form amyloid-like myo-granules in regenerating muscle.", "journal": "Nature", "date": "2018", "authors": "Vogler TO, Wheeler JR, Nguyen ED, Hughes MP, Britson KA, Lester E, Rao B, Betta ND, Whitney ON, Ewachiw TE, Gomes E, Shorter J, Lloyd TE, Eisenberg DS, Taylor JP, Johnson AM, Olwin BB, Parker R", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "30464263", "url": "https://glygen.org/publication/PubMed/30464263" } ] }, { "title": "Optogenetic modulation of TDP-43 oligomerization accelerates ALS-related pathologies in the spinal motor neurons.", "journal": "Nature communications", "date": "2020-02-21", "authors": "Asakawa Kazuhide, Handa Hiroshi, Kawakami Koichi", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "32081878", "url": "https://glygen.org/publication/PubMed/32081878" } ] }, { "title": "Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.", "journal": "Acta neuropathologica", "date": "2020-08", "authors": "LaClair Katherine D, Zhou Qihui, Michaelsen Meike, Wefers Benedikt, Brill Monika S, Janjic Aleksandar, Rathkolb Birgit, Farny Daniel, Cygan Mikolaj, de Angelis Martin Hrabe, Wurst Wolfgang, Neumann Manuela, Enard Wolfgang, Misgeld Thomas, Arzberger Thomas, Edbauer Dieter", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "32562018", "url": "https://glygen.org/publication/PubMed/32562018" } ] }, { "title": "Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.", "journal": "Acta neuropathologica communications", "date": "2020", "authors": "McMillan P, Wheeler J, Gatlin RE, Taylor L, Strovas T, Baum M, Bird TD, Latimer C, Keene CD, Kraemer BC, Liachko NF", "evidence": [ { "database": "iPTMnet", "id": "Q921F2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q921F2" } ], "reference": [ { "type": "PubMed", "id": "33228809", "url": "https://glygen.org/publication/PubMed/33228809" } ] }, { "title": "Polycomb Group Protein CBX7 Represses Cardiomyocyte Proliferation Through Modulation of the TARDBP/RBM38 Axis.", "journal": "Circulation", "date": "2023-05-09", "authors": "Cho Kyu-Won, Andrade Mark, Bae Seongho, Kim Sangsung, Eyun Kim Jin, Jang Er Yearn, Lee Sangho, Husain Ahsan, Sutliff Roy L, Calvert John W, Park Changwon, Yoon Young-Sup", "evidence": [ { "database": "RefSeq", "id": "NP_001003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003899" }, { "database": "RefSeq", "id": "NP_001003898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003898" }, { "database": "RefSeq", "id": "NP_001008546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008546" }, { "database": "RefSeq", "id": "NP_001008545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008545" } ], "reference": [ { "type": "PubMed", "id": "37158107", "url": "https://glygen.org/publication/PubMed/37158107" } ] }, { "title": "Loss of TDP-43 promotes somatic CAG repeat expansion in Huntington's disease knock-in mice.", "journal": "Progress in neurobiology", "date": "2023-08", "authors": "Bai Dazhang, Zhu Longhong, Jia Qingqing, Duan Xuezhi, Chen Laiqiang, Wang Xiang, Hou Junqi, Jiang Guohui, Yang Su, Li Shihua, Li Xiao-Jiang, Yin 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[ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "perichromatin fibrils", "id": "GO:0005726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005726", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "interchromatin granule", "id": "GO:0035061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035061", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "intracellular non-membrane-bounded organelle", "id": "GO:0043232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043232", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 19, "go_terms": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprot/Q921F2" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": 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