{ "uniprot_canonical_ac": "Q14738-1", "uniprot_ac": "Q14738", "uniprot_id": "2A5D_HUMAN", "mass": { "chemical_mass": 69992.0, "monoisotopic_mass": 69992.0 }, "refseq": { "ac": "NP_001257405", "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4", "summary": "The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, "gene_names": [ { "name": "PPP2R5D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q14738", "id": "Q14738" }, { "name": "B56D; B56delta; HJS1; MRD35", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405", "id": "NP_001257405" }, { "name": "PPP2R5D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405", "id": "NP_001257405" } ], "protein_names": [ { "name": "Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q14738" }, { "name": "PP2A B subunit isoform B'-delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q14738" }, { "name": "PP2A B subunit isoform B56-delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q14738" }, { "name": "PP2A B subunit isoform PR61-delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q14738" }, { "name": "PP2A B subunit isoform R5-delta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q14738" }, { "name": "serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405", "id": "NP_001257405" } ], "function": [ { "annotation": "A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree.", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, { "database": "PubMed", "id": "36403339", "url": "https://glygen.org/publication/PubMed/36403339" } ] }, { "annotation": "Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, { "database": "PubMed", "id": "36216457", "url": "https://glygen.org/publication/PubMed/36216457" } ] }, { "annotation": "Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, { "database": "PubMed", "id": "34946857", "url": "https://glygen.org/publication/PubMed/34946857" } ] }, { "annotation": "PPP2R5D promotes hepatitis C virus infection by binding to viral NS5B and enhancing viral RNA replication. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, { "database": "PubMed", "id": "35836293", "url": "https://glygen.org/publication/PubMed/35836293" } ] }, { "annotation": "Rare missense variants in the PPP2R5D gene associated with Parkinson's disease in the Han Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" }, { "database": "PubMed", "id": "35257824", "url": "https://glygen.org/publication/PubMed/35257824" } ] }, { "annotation": "The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.", "evidence": [ { "database": "UniProtKB", "id": "E9PFR3", "url": "https://www.uniprot.org/uniprot/E9PFR3#function" }, { "database": "UniProtKB", "id": "PIRNR028043", "url": "https://www.uniprot.org/uniprot/PIRNR028043#function" }, { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738#function" } ] }, { "annotation": "The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001257405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257405" } ] } ], "disease": [ { "disease_id": "DOID:0070065", "recommended_name": { "id": "DOID:0070065", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070065", "name": "autosomal dominant intellectual developmental disorder 35", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1." }, "synonyms": [ { "id": "DOID:0070065", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070065", "name": "autosomal dominant non-syndromic intellectual disability 35", "description": "" }, { "id": "DOID:0070065", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070065", "name": "MRD35", "description": "" }, { "id": "DOID:0070065", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070065", "name": "autosomal dominant mental retardation 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome", "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1." }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "MRD35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "autosomal dominant intellectual disability 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "autosomal dominant mental retardation 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "intellectual disability, autosomal dominant type 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "mental retardation, autosomal dominant type 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "autosomal dominant non-syndromic intellectual disability 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "intellectual disability, autosomal dominant 35", "description": "" }, { "id": "MONDO:0014602", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014602", "name": "mental retardation, autosomal dominant 35", "description": "" }, { "id": "MIM:616355", "resource": "MIM", "url": "https://www.omim.org/entry/616355", "name": "Intellectual developmental disorder, autosomal dominant 35", "description": "Intellectual developmental disorder, autosomal dominant 35" } ], "evidence": [ { "id": "616355", "database": "MIM", "url": "https://www.omim.org/entry/616355" } ] } ], "snv": [ { "evidence": [ { "id": "rs760788341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760788341" }, { "id": "rs760788341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760788341" }, { "id": "rs760788341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760788341#frequency_tab" }, { "id": "rs760788341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760788341" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 157, "end_pos": 157, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (THS->NHS).", "chr_id": "6", "chr_pos": "43007058", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T157", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373458153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373458153" }, { "id": "rs373458153", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373458153" }, { "id": "rs373458153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373458153" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "6", "chr_pos": "42989648", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479382253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479382253" }, { "id": "rs1479382253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479382253" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 231, "end_pos": 231, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIS).", "chr_id": "6", "chr_pos": "43007471", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q14738", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q14738" } ], "glycoeffect": [], "start_pos": 264, "end_pos": 264, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "43007999", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R264", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", 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"database": "BioXpress", "id": "Q14738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q14738" } ], "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", 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"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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"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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"https://www.uniprot.org/uniprot/H0Y8C4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Q9", "url": "https://www.uniprot.org/uniprot/H7C5Q9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Q9-1", "url": "https://www.uniprot.org/uniprot/H7C5Q9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Z1", "url": "https://www.uniprot.org/uniprot/H7C5Z1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5Z1-1", "url": "https://www.uniprot.org/uniprot/H7C5Z1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q14738-1", "url": "https://www.uniprot.org/uniprot/Q14738-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q14738-2", "url": "https://www.uniprot.org/uniprot/Q14738-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q14738-3", "url": "https://www.uniprot.org/uniprot/Q14738-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 602, "header": "sp|Q14738-1|2A5D_HUMAN Isoform 1 of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "isoforms": [ { "isoform_ac": "E9PFR3-1", "url": "", "sequence": { "sequence": "MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 594, "header": "tr|E9PFR3-1|2A5D_HUMAN Computationally mapped isoform of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43011283, "end_pos": 42984678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472118.5", "url": "https://www.ensembl.org/id/ENST00000472118.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420550.1", "url": "https://www.ensembl.org/id/ENSP00000420550.1" } ] } }, { "isoform_ac": "H0Y8C4-1", "url": "", "sequence": { "sequence": "XKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 504, "header": "tr|H0Y8C4-1|2A5D_HUMAN Computationally mapped isoform of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43011285, "end_pos": 43006600, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470467.5", "url": "https://www.ensembl.org/id/ENST00000470467.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419756.1", "url": "https://www.ensembl.org/id/ENSP00000419756.1" } ] } }, { "isoform_ac": "H7C5Q9-1", "url": "", "sequence": { "sequence": "XFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQNPTPILLLLLRGRFRMKEREEMWQKIEELARLNPQYPMF", "length": 154, "header": "tr|H7C5Q9-1|2A5D_HUMAN Computationally mapped isoform of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=8 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43010894, "end_pos": 43009113, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000486843.1", "url": "https://www.ensembl.org/id/ENST00000486843.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420529.1", "url": "https://www.ensembl.org/id/ENSP00000420529.1" } ] } }, { "isoform_ac": "H7C5Z1-1", "url": "", "sequence": { "sequence": "MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEVTCLTRPSRSPSPSPSPKPSLSHRHPTSVPAIARRPPRSSAKSSTQGGPRLSRRSDGKAPPASTSARIGSCRSFLP", "length": 111, "header": "tr|H7C5Z1-1|2A5D_HUMAN Computationally mapped isoform of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43006673, "end_pos": 42984678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000230402.10", "url": "https://www.ensembl.org/id/ENST00000230402.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000230402.6", "url": "https://www.ensembl.org/id/ENSP00000230402.6" } ] } }, { "isoform_ac": "Q14738-1", "url": "", "sequence": { "sequence": "MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPALKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 602, "header": "sp|Q14738-1|2A5D_HUMAN Isoform 1 of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43011283, "end_pos": 42984678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000485511.6", "url": "https://www.ensembl.org/id/ENST00000485511.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000417963.1", "url": "https://www.ensembl.org/id/ENSP00000417963.1" } ] } }, { "isoform_ac": "Q14738-2", "url": "", "sequence": { "sequence": "MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 570, "header": "sp|Q14738-2|2A5D_HUMAN Isoform 2 of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43011283, "end_pos": 42984678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394110.7", "url": "https://www.ensembl.org/id/ENST00000394110.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377669.3", "url": "https://www.ensembl.org/id/ENSP00000377669.3" } ] } }, { "isoform_ac": "Q14738-3", "url": "", "sequence": { "sequence": "MPYKLKKEKELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHLQLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPLKEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAERALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAPPPLPPVYSMETETPTAEDIQLLKRTVETEAVQMLKDIKKEKVLLRRKSELPQDVYTIKALEAHKRAEEFLTASQEAL", "length": 496, "header": "sp|Q14738-3|2A5D_HUMAN Isoform 3 of Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform OS=Homo sapiens OX=9606 GN=PPP2R5D PE=1 SV=1 CANONICAL=Q14738-1" }, "locus": { "chromosome": "6", "start_pos": 43011283, "end_pos": 42984678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461010.5", "url": "https://www.ensembl.org/id/ENST00000461010.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420674.1", "url": "https://www.ensembl.org/id/ENSP00000420674.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 33, "start_aa": "Thr", "end_pos": 33, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr33", "evidence": [ { "id": "Q14738", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q14738" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 461, "end_pos": 461, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr461" }, { "start_pos": 573, "end_pos": 573, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "17301223", "url": "https://glygen.org/publication/PubMed/17301223" } ], "site_lbl": "Ser573" }, { "start_pos": 573, "end_pos": 573, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q14738", "url": "http://phospho.elm.eu.org/byAccession/Q14738.html" } ], "site_lbl": "Ser573" }, { "start_pos": 598, "end_pos": 598, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "phospho.ELM", "id": "Q14738", "url": "http://phospho.elm.eu.org/byAccession/Q14738.html" } ], "site_lbl": "Ser598" }, { "start_pos": 63, "end_pos": 63, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" } ], "site_lbl": "Thr63" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q14738", "url": "http://phospho.elm.eu.org/byAccession/Q14738.html" } ], "site_lbl": "Ser88" }, { "start_pos": 89, "end_pos": 89, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q14738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q14738" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": 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"title": "The human F box protein beta-Trcp associates with the Cul1/Skp1 complex and regulates the stability of beta-catenin.", "journal": "Oncogene", "date": "1999", "authors": "Latres E, Chiaur DS, Pagano M", "evidence": [ { "database": "Reactome", "id": "R-HSA-195253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-195253" } ], "reference": [ { "type": "PubMed", "id": "10023660", "url": "https://glygen.org/publication/PubMed/10023660" } ] }, { "title": "Regulation of beta-catenin signaling by the B56 subunit of protein phosphatase 2A.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Seeling JM, Miller JR, Gil R, Moon RT, White R, Virshup DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-195253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-195253" } ], "reference": [ { "type": "PubMed", "id": "10092233", "url": "https://glygen.org/publication/PubMed/10092233" } ] }, { "title": "Cloning, expression and chromosomal localization of a human 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Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "protein phosphatase type 2A complex", "id": "GO:0000159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000159", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "positive regulation of protein dephosphorylation", "id": "GO:0035307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035307", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-threonine phosphorylation", "id": "GO:0010801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010801", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "protein phosphatase regulator activity", "id": "GO:0019888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019888", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "protein phosphatase activator activity", "id": "GO:0072542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072542", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q14738", "url": "https://www.uniprot.org/uniprot/Q14738" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 459, "end_pos": 461, "annotation": "n_glycosylation_sequon" }, { "start_pos": 61, "end_pos": 63, "annotation": "n_glycosylation_sequon" }, { "start_pos": 93, "end_pos": 95, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "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": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 316 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }