{ "uniprot_canonical_ac": "O15265-1", "uniprot_ac": "O15265", "uniprot_id": "ATX7_HUMAN", "mass": { "chemical_mass": 95451.0, "monoisotopic_mass": 95451.0 }, "refseq": { "ac": "NP_000324", "name": "ataxin-7 isoform a", "summary": "The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, "gene_names": [ { "name": "ATXN7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15265", "id": "O15265" }, { "name": "ADCAII; OPCA3; SCA7; SGF73", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324", "id": "NP_000324" }, { "name": "ATXN7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324", "id": "NP_000324" }, { "name": "SCA7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15265", "id": "O15265" }, { "name": "hCG_22237", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15265", "id": "O15265" } ], "protein_names": [ { "name": "Ataxin-7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15265" }, { "name": "Spinocerebellar ataxia type 7 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15265" }, { "name": "ataxin-7 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324", "id": "NP_000324" }, { "name": "spinocerebellar ataxia type 7 protein; Autosomal dominant cerebellar ataxia with retinal degeneration; SAGA associated factor 73 kDa homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324", "id": "NP_000324" } ], "function": [ { "annotation": "Acts as a component of the STAGA transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762).", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265#function" }, { "database": "PubMed", "id": "22100762", "url": "https://glygen.org/publication/PubMed/22100762" }, { "database": "PubMed", "id": "18206972", "url": "https://glygen.org/publication/PubMed/18206972" }, { "database": "PubMed", "id": "15932940", "url": "https://glygen.org/publication/PubMed/15932940" } ] }, { "annotation": "Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, { "database": "PubMed", "id": "34012225", "url": "https://glygen.org/publication/PubMed/34012225" } ] }, { "annotation": "Deciphering the natural history of SCA7 in children.", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, { "database": "PubMed", "id": "32558018", "url": "https://glygen.org/publication/PubMed/32558018" } ] }, { "annotation": "Identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in the neurodegeneration patterns characteristic of SCA7", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, { "database": "PubMed", "id": "12533095", "url": "https://glygen.org/publication/PubMed/12533095" } ] }, { "annotation": "Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, { "database": "PubMed", "id": "33338633", "url": "https://glygen.org/publication/PubMed/33338633" } ] }, { "annotation": "Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates alpha-helix formation of the polyQ tract but suppresses its aggregation. Erratum:[Sci Rep. 2020 Jun 9;10(1):9519. PMID: 32518289] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" }, { "database": "PubMed", "id": "31097749", "url": "https://glygen.org/publication/PubMed/31097749" } ] }, { "annotation": "The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" } ] } ], "disease": [ { "disease_id": "DOID:0050958", "recommended_name": { "id": "DOID:0050958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050958", "name": "spinocerebellar ataxia type 7", "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene." }, "synonyms": [ { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "autosomal dominant cerebellar ataxia type II", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "ADCA2", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "ADCAII", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "ATXN7 autosomal dominant cerebellar ataxia type II", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "SCA7", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "ataxia with pigmentary retinopathy", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "autosomal dominant cerebellar ataxia type 2", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "autosomal dominant cerebellar ataxia type II", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "cerebellar syndrome-pigmentary maculopathy syndrome", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "spinocerebellar ataxia type 7", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "ADCA, type II", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "Adca, type 2", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "OPCA 3", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "OPCA III", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "OPCA with macular Degeneration and external ophthalmoplegia", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "OPCA with retinal Degeneration", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "OPCA3", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "autosomal dominant cerebellar ataxia, type 2", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "olivopontocerebellar atrophy 3", "description": "" }, { "id": "MONDO:0016163", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016163", "name": "spinocerebellar ataxia 7", "description": "" }, { "id": "MIM:164500", "resource": "MIM", "url": "https://www.omim.org/entry/164500", "name": "Spinocerebellar ataxia 7", "description": "Spinocerebellar ataxia 7" } ], "evidence": [ { "id": "164500", "database": "MIM", "url": "https://www.omim.org/entry/164500" } ] } ], "snv": [ { "evidence": [ { "id": "rs564106533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564106533" }, { "id": "rs564106533", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs564106533" }, { "id": "rs564106533", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs564106533" }, { "id": "rs564106533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs564106533#frequency_tab" }, { "id": "rs564106533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs564106533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 108, "end_pos": 108, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "3", "chr_pos": "63912920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "D108", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1390860312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390860312" }, { "id": "rs1390860312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390860312" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 266, "end_pos": 266, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "3", "chr_pos": "63982229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D266", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778724737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778724737" }, { "id": "rs778724737", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778724737" }, { "id": "rs778724737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778724737#frequency_tab" }, { "id": "rs778724737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778724737" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 293, "end_pos": 293, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "3", "chr_pos": "63982310", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P293", "keywords": [ "ebi", "germline" ] }, { "evidence": 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}, { "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15265", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15265" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15265", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15265" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15265", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15265" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP", "length": 892, "header": "sp|O15265-1|ATX7_HUMAN Isoform 1 of Ataxin-7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GX67-1", "url": "", "sequence": { "sequence": "MSERAADDVRGEPRRAAAAAGGAAA", "length": 25, "header": "tr|A0A1B0GX67-1|ATX7_HUMAN Computationally mapped isoform of Ataxin-7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "locus": { "chromosome": "3", "start_pos": 63912673, "end_pos": 63912599, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474513.6", "url": "https://www.ensembl.org/id/ENST00000474513.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000418203.2", "url": "https://www.ensembl.org/id/ENSP00000418203.2" } ] } }, { "isoform_ac": "A0A2R8YDD6-1", "url": "", "sequence": { "sequence": "MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQVGNGL", "length": 892, "header": "tr|A0A2R8YDD6-1|A0A2R8YDD6_HUMAN Computationally mapped isoform of Ataxin 7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "locus": { "chromosome": "3", "start_pos": 63996498, "end_pos": 63912599, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474112.5", "url": "https://www.ensembl.org/id/ENST00000474112.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000493724.1", "url": "https://www.ensembl.org/id/ENSP00000493724.1" } ] } }, { "isoform_ac": "O15265-1", "url": "", "sequence": { "sequence": "MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP", "length": 892, "header": "sp|O15265-1|ATX7_HUMAN Isoform 1 of Ataxin-7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "locus": { "chromosome": "3", "start_pos": 63999464, "end_pos": 63912599, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000295900.10", "url": "https://www.ensembl.org/id/ENST00000295900.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000295900.6", "url": "https://www.ensembl.org/id/ENSP00000295900.6" } ] } }, { "isoform_ac": "O15265-2", "url": "", "sequence": { "sequence": "MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQDISSPCLRTGISATSPQSPDLKSKGTSLTAENSTGRNNADTFEDKLHLHSALWTPRCL", "length": 945, "header": "sp|O15265-2|ATX7_HUMAN Isoform 2 of Ataxin-7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "locus": { "chromosome": "3", "start_pos": 63999556, "end_pos": 63912599, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522345.2", "url": "https://www.ensembl.org/id/ENST00000522345.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000428067.2", "url": "https://www.ensembl.org/id/ENSP00000428067.2" } ] } }, { "isoform_ac": "O15265-3", "url": "", "sequence": { "sequence": "MEGSKTPLQSSPSAQELKAPLERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP", "length": 747, "header": "sp|O15265-3|ATX7_HUMAN Isoform 3 of Ataxin-7 OS=Homo sapiens OX=9606 GN=ATXN7 PE=1 SV=1 CANONICAL=O15265-1" }, "locus": { "chromosome": "3", "start_pos": 63999464, "end_pos": 63967912, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484332.1", "url": "https://www.ensembl.org/id/ENST00000484332.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428277.1", "url": "https://www.ensembl.org/id/ENSP00000428277.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 443, "start_aa": "Ser", "end_pos": 443, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser443", "evidence": [ { "id": "O15265", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15265" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O15265", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15265" } ] }, { "glytoucan_ac": "G70994MS", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 443, "start_aa": "Ser", "end_pos": 443, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser443", "evidence": [ { "id": "GLY_000142", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000142" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] } ], "phosphorylation": [ { "start_pos": 840, "end_pos": 840, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15265" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "O15265", "url": "http://phospho.elm.eu.org/byAccession/O15265.html" } ], "site_lbl": "Ser840" }, { "start_pos": 849, "end_pos": 849, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15265" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "O15265", "url": "http://phospho.elm.eu.org/byAccession/O15265.html" } ], "site_lbl": "Ser849" }, { "start_pos": 854, "end_pos": 854, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15265", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15265" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "phospho.ELM", "id": "O15265", "url": "http://phospho.elm.eu.org/byAccession/O15265.html" } ], "site_lbl": "Thr854" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.", "journal": "Hum. Mol. Genet.", "date": "1999", "authors": "Kaytor M D, Duvick L A, Skinner P J, Koob M D, Ranum L P, Orr H T", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "reference": [ { "type": "PubMed", "id": "10441328", "url": "https://glygen.org/publication/PubMed/10441328" } ] }, { "title": "Identification, functional characterization, and chromosomal localization of USP15, a novel human ubiquitin-specific protease related to the UNP oncoprotein, and a systematic nomenclature for human ubiquitin-specific proteases.", "journal": "Genomics", "date": "1999", "authors": "Baker RT, Wang XW, Woollatt E, White JA, Sutherland GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10444327", "url": "https://glygen.org/publication/PubMed/10444327" } ] }, { "title": "A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Neal KC, Pannuti A, Smith ER, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10786633", "url": "https://glygen.org/publication/PubMed/10786633" } ] }, { "title": "ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation.", "journal": "Nature", "date": "2000", "authors": "Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y, Yokoyama KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10821277", "url": "https://glygen.org/publication/PubMed/10821277" } ] }, { "title": "A deubiquitinating enzyme UBPY interacts with the Src homology 3 domain of Hrs-binding protein via a novel binding motif PX(V/I)(D/N)RXXKP.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kato M, Miyazawa K, Kitamura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "10982817", "url": "https://glygen.org/publication/PubMed/10982817" } ] }, { "title": "Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.", "journal": "Hum. Mol. Genet.", "date": "2001", "authors": "Lebre A S, Jamot L, Takahashi J, Spassky N, Leprince C, Ravis\u00e9 N, Zander C, Fujigasaki H, Kussel-Andermann P, Duyckaerts C, Camonis J H, Brice A", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "reference": [ { "type": "PubMed", "id": "11371513", "url": "https://glygen.org/publication/PubMed/11371513" } ] }, { "title": "A novel active site-directed probe specific for deubiquitylating enzymes reveals proteasome association of USP14.", "journal": "The EMBO journal", "date": "2001", "authors": "Borodovsky A, Kessler BM, Casagrande R, Overkleeft HS, Wilkinson KD, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11566882", "url": "https://glygen.org/publication/PubMed/11566882" } ] }, { "title": "Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.", "journal": "Hum. Mol. Genet.", "date": "2001", "authors": "Matilla A, Gorbea C, Einum D D, Townsend J, Michalik A, van Broeckhoven C, Jensen C C, Murphy K J, Pt\u00e1cek L J, Fu Y H", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "reference": [ { "type": "PubMed", "id": "11734547", "url": "https://glygen.org/publication/PubMed/11734547" } ] }, { "title": "Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization.", "journal": "Nature", "date": "2002", "authors": "Li M, Chen D, Shiloh A, Luo J, Nikolaev AY, Qin J, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "11923872", "url": "https://glygen.org/publication/PubMed/11923872" } ] }, { "title": "A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.", "journal": "Arch. Neurol.", "date": "2003", "authors": "Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" }, { "database": "RefSeq", "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324" } ], "reference": [ { "type": "PubMed", "id": "12533095", "url": "https://glygen.org/publication/PubMed/12533095" } ] }, { "title": "CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members.", "journal": "Nature", "date": "2003", "authors": "Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917689", "url": "https://glygen.org/publication/PubMed/12917689" } ] }, { "title": "The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination.", "journal": "Nature", "date": "2003", "authors": "Kovalenko A, Chable-Bessia C, Cantarella G, Israel A, Wallach D, Courtois G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "12917691", "url": "https://glygen.org/publication/PubMed/12917691" } ] }, { "title": "Two isoforms of otubain 1 regulate T cell anergy via GRAIL.", "journal": "Nature immunology", "date": "2004", "authors": "Soares L, Seroogy C, Skrenta H, Anandasabapathy N, Lovelace P, Chung CD, Engleman E, Fathman CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "14661020", "url": "https://glygen.org/publication/PubMed/14661020" } ] }, { "title": "A dynamic role of HAUSP in the p53-Mdm2 pathway.", "journal": "Molecular cell", "date": "2004", "authors": "Li M, Brooks CL, Kon N, Gu W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "15053880", "url": "https://glygen.org/publication/PubMed/15053880" } ] }, { "title": "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.", "journal": "Hum. Mol. 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"journal": "Molecular cancer research : MCR", "date": "2010", "authors": "Dirac AM, Bernards R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "20501646", "url": "https://glygen.org/publication/PubMed/20501646" } ] }, { "title": "Lys-63-specific deubiquitination of SDS3 by USP17 regulates HDAC activity.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Ramakrishna S, Suresh B, Lee EJ, Lee HJ, Ahn WS, Baek KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5689880", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5689880" } ], "reference": [ { "type": "PubMed", "id": "21239494", "url": "https://glygen.org/publication/PubMed/21239494" } ] }, { "title": "USP47 is a deubiquitylating enzyme that regulates base excision repair by controlling steady-state levels of DNA polymerase beta.", "journal": "Molecular cell", "date": 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"MQTPGLTPGRHFHTCPWQLWFLGVRTVAASHSCSSYCAAACEPRAKRWCRGSGGRAWATLSSLRRGRPAGSSIGGCVSDFALAPLRGLDVQTSPERAEREGPARGRRRQEAPPLKGAGRAPPLGRTRGRKEGAGLRAGPGCERPQGAERMSERAADDVRGEPRRAAGGAAAARQQQQPQPLQLQRQHPPPRRPRPEDGGTGAATTSAAAMATVGERRPLPSPEAMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGLCPAHDDFYLVVCNDCNQVVKPQAFQSHCERRHSSSSKPPLAVPRTSVFSLFPSLSKSKAGGAGGSSRPPGGGVLCASSSSKLLRLPKEKLQLRANMKPMHPMQQTKVPHGRVSMTPSVKVEKMHPKMDGALLRSTVGPACPAPVSSAVKPGLSCPSIPKPTLPSPGQTLNGKGLPAMPTLEKKPEDSSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNRTREKELIRHPDCQQLPHPLRDPHPTPPRTLPEPHLPAESKPSLASKPKPHTPSLPRPPGCPAQQGGSTPVDPPPGRESPHPPLPATEPASRLSSEEGEGDDREEPVEKLDCHYSGRHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPCSTSPVSARVPHRTNSVPTPQGGVSSLAAATVSAPAVVLPSSCVSPNSKSAPAHGTTLNAQPAVSGAMDPVCSMQSRHVSASSSSPSTPSGLSSVPSSPLSRKPQKLKPSKSVRPKEPSAVSTNCHSASSSTSGGLGKKRKNSSPLSVHSSSSSASSSSSSHSVDFFRKNCVAHSGTPYLSTAPSSHSIGLNCVTNKTHSVSLRHEPVGRGPAGVSPAESIKRMSVMVNSGDSTLSLGPFVHQSSELPVSPHSHTPLDKLIGKKRKCSPGSSTVGSSGSKPTKVARSPAMNSVHMKHTGTIPGPQGLMNNSLLHQPKARP", 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}, { "id": "O15265", "url": "https://omabrowser.org/oma/group/O15265/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "transcription factor TFTC complex", "id": "GO:0033276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033276", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": 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The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration (PubMed:17646170).", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" }, { "database": "PubMed", "id": "17646170", "url": "https://glygen.org/publication/PubMed/17646170" } ] }, { "annotation": "Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.", "evidence": [ { "database": "UniProtKB", "id": "O15265", "url": "https://www.uniprot.org/uniprot/O15265" }, { "database": "PubMed", "id": "19843541", "url": "https://glygen.org/publication/PubMed/19843541" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 443 ], "snv_sites": [ 108, 266, 293, 327, 330, 443, 474, 568, 615, 696, 697, 708, 716, 781 ], "glycation_sites": [], "phosphorylation_sites": [ 840, 849, 854 ], "sequon_annotation_sites": [ { "start_pos": 204, "end_pos": 206 }, { "start_pos": 391, "end_pos": 393 }, { "start_pos": 688, "end_pos": 690 }, { "start_pos": 694, "end_pos": 696 }, { "start_pos": 709, "end_pos": 711 }, { "start_pos": 796, "end_pos": 798 }, { "start_pos": 847, "end_pos": 849 }, { "start_pos": 848, "end_pos": 850 }, { "start_pos": 881, "end_pos": 883 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 89 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }