{ "uniprot_canonical_ac": "O60828-1", "uniprot_ac": "O60828", "uniprot_id": "PQBP1_HUMAN", "mass": { "chemical_mass": 30472.0, "monoisotopic_mass": 30472.0 }, "refseq": { "ac": "NP_001027553", "name": "polyglutamine-binding protein 1 isoform 1", "summary": "This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" }, "gene_names": [ { "name": "PQBP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60828", "id": "O60828" }, { "name": "JM26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60828", "id": "O60828" }, { "name": "MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "id": "NP_001027553" }, { "name": "NPW38", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60828", "id": "O60828" }, { "name": "PQBP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "id": "NP_001027553" } ], "protein_names": [ { "name": "Polyglutamine-binding protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60828" }, { "name": "38 kDa nuclear protein containing a WW domain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60828" }, { "name": "Npw38", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60828" }, { "name": "PQBP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60828" }, { "name": "Polyglutamine tract-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60828" }, { "name": "polyglutamine tract-binding protein 1; 38 kDa nuclear protein containing a WW domain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "id": "NP_001027553" }, { "name": "polyglutamine-binding protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "id": "NP_001027553" } ], "function": [ { "annotation": "Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development (PubMed:10198427, PubMed:10332029, PubMed:12062018, PubMed:20410308, PubMed:23512658). Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species (PubMed:10332029, PubMed:12062018, PubMed:23512658, PubMed:20410308). May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery (PubMed:10198427). May be involved in ATXN1 mutant-induced cell death (PubMed:12062018). The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit (PubMed:12062018). Involved in the assembly of cytoplasmic stress granule, possibly by participating in the transport of neuronal RNA granules (PubMed:21933836). Also acts as an innate immune sensor of infection by retroviruses, such as HIV, by detecting the presence of reverse-transcribed DNA in the cytosol (PubMed:26046437). Directly binds retroviral reverse-transcribed DNA in the cytosol and interacts with CGAS, leading to activate the cGAS-STING signaling pathway, triggering type-I interferon production (PubMed:26046437).", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828#function" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" }, { "database": "PubMed", "id": "10332029", "url": "https://glygen.org/publication/PubMed/10332029" }, { "database": "PubMed", "id": "23512658", "url": "https://glygen.org/publication/PubMed/23512658" }, { "database": "PubMed", "id": "21933836", "url": "https://glygen.org/publication/PubMed/21933836" }, { "database": "PubMed", "id": "26046437", "url": "https://glygen.org/publication/PubMed/26046437" }, { "database": "PubMed", "id": "20410308", "url": "https://glygen.org/publication/PubMed/20410308" }, { "database": "PubMed", "id": "12062018", "url": "https://glygen.org/publication/PubMed/12062018" } ] }, { "annotation": "Novel regulation of the eEF2K/eEF2 pathway: prospects of 'PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation'.", "evidence": [ { "database": "RefSeq", "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" }, { "database": "PubMed", "id": "33734395", "url": "https://glygen.org/publication/PubMed/33734395" } ] }, { "annotation": "PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" }, { "database": "PubMed", "id": "35682906", "url": "https://glygen.org/publication/PubMed/35682906" } ] }, { "annotation": "Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" }, { "database": "PubMed", "id": "34782623", "url": "https://glygen.org/publication/PubMed/34782623" } ] }, { "annotation": "The role of PQBP1 in neural development and function. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" }, { "database": "PubMed", "id": "36815699", "url": "https://glygen.org/publication/PubMed/36815699" } ] }, { "annotation": "This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553" } ] } ], "disease": [ { "disease_id": "DOID:0060179", "recommended_name": { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "Renpenning syndrome", "description": "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males." }, "synonyms": [ { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "Golabi-Ito-Hall syndrome", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "X-linked intellectual disability, Renpenning type", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "X-linked mental retardation Renpenning type", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "X-linked mental retardation with spastic diplegia", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "syndromic X-linked mental retardation 8", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "X-linked intellectual disability due to PQBP1 mutations", "description": "" }, { "id": "DOID:0060179", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060179", "name": "Sutherland-Haan X-linked mental retardation syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Renpenning syndrome", "description": "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature." }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Golabi-Ito-Hall syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Renpenning syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Renpenning syndrome type 1", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Sutherland-Haan X-linked intellectual disability syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Sutherland-Haan X-linked mental retardation syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked intellectual disability Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked intellectual disability due to PQBP1 mutations", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked intellectual disability with spastic diplegia", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked intellectual disability, Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked mental retardation Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked mental retardation with spastic diplegia", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "renpenning syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "syndromic X-linked intellectual disability 8", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "syndromic X-linked mental retardation 8", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "MRXS3", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "MRXS8", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "RENS1", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Renpenning syndrome 1", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "Sutherland-Haan syndrome", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked intellectual disability syndromic 3", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "X-linked mental retardation syndromic 3", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked 55", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked, Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked, syndromic 3", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked, syndromic 8", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "intellectual disability, X-linked, with spastic diplegia", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked 55", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked, Renpenning type", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked, syndromic 3", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked, syndromic 8", "description": "" }, { "id": "MONDO:0010653", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010653", "name": "mental retardation, X-linked, with spastic diplegia", "description": "" }, { "id": "MIM:309500", "resource": "MIM", "url": "https://www.omim.org/entry/309500", "name": "Renpenning syndrome 1", "description": "Renpenning syndrome 1" } ], "evidence": [ { "id": "309500", "database": "MIM", "url": "https://www.omim.org/entry/309500" } ] } ], "snv": [ { "evidence": [ { "id": "O60828", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60828" }, { "id": "rs1557041399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1557041399" }, { "id": "rs1557041399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1557041399" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 129, "end_pos": 129, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "X", "chr_pos": "48902325", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D129", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1214370808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214370808" }, { "id": "rs1214370808", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1214370808#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 136, "end_pos": 136, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "X", "chr_pos": "48902346", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60828", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60828" } ], "glycoeffect": [], "start_pos": 177, "end_pos": 177, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "X", "chr_pos": "48902469", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R177", "disease": [ { "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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, 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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": "" 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"database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "24781215", "url": "https://glygen.org/publication/PubMed/24781215" } ] }, { "start_pos": 248, "end_pos": 248, "sequence_org": "P", "sequence_mut": "D", "comment": "Abolishes interaction with TXNL4A.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "24781215", "url": "https://glygen.org/publication/PubMed/24781215" } ] }, { "start_pos": 251, "end_pos": 251, "sequence_org": "V", "sequence_mut": "D", "comment": "Abolishes interaction with TXNL4A.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "24781215", "url": "https://glygen.org/publication/PubMed/24781215" } ] }, { "start_pos": 252, "end_pos": 252, "sequence_org": "L", "sequence_mut": "D", "comment": "Abolishes interaction with 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"Enhances transcriptional activation. Reduces transcriptional activation; when associated with A-75. Markedly reduced transcriptional activation; when associated with A-64; A-65 and A-66. Abolishes transcriptional activation; when associated with A-64; A-65; A-66 and A-75.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on transcriptional activation; when associated with A-65 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-65 and A-66. 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Abolishes transcriptional activation; when associated with A-52; A-64; A-66 and A-75.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" } ] }, { "start_pos": 66, "end_pos": 66, "sequence_org": "W", "sequence_mut": "A", "comment": "No effect on transcriptional activation; when associated with A-64 and A-65. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-65. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-75.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" } ] }, { "start_pos": 75, "end_pos": 75, "sequence_org": "W", "sequence_mut": "A", "comment": "No effect on transcriptional activation. Reduces transcriptional activation; when associated with A-52. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-66.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "P", "sequence_mut": "G", "comment": "No effect on transcriptional activation.", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "PubMed", "id": "10198427", "url": "https://glygen.org/publication/PubMed/10198427" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "82.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60828" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60828" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60828" } ], "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60828", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60828" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "common_name": "Human" } ], "gene": [ { "name": "PQBP1", "url": "https://www.uniprot.org/uniprot/O60828", "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 62237, "end_pos": 49032, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000292208", "url": "https://www.ensembl.org/id/ENSG00000292208" } ] } } ], "crossref": [ { "id": "ENSG00000102103", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102103", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60828", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60828", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "PQBP1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PQBP1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10084", "url": "https://www.ncbi.nlm.nih.gov/gene/10084", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9330", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9330", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60828", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60828*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001202", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001202", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10084", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10084", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300463", "url": "http://www.omim.org/entry/300463", "database": "MIM", "categories": [ "Other" ] }, { "id": "309500", "url": "http://www.omim.org/entry/309500", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60828", "url": "https://www.nextprot.org/entry/NX_O60828", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60828", "url": "https://oglcnac.org/atlas/detail/O60828", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60828", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60828", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IYHECSK", "url": "https://omabrowser.org/oma/group/IYHECSK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5403339at2759", "url": "http://www.orthodb.org/?query=5403339at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR21737", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21737", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21737:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21737:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4BWQ", "url": "https://www.rcsb.org/structure/4BWQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BWS", "url": "https://www.rcsb.org/structure/4BWS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4CDO", "url": "https://www.rcsb.org/structure/4CDO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "O60828", "url": "https://pharos.nih.gov/targets/O60828", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60828", "url": "http://purl.obolibrary.org/obo/PR_O60828", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001027553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027553", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A5H1ZRR1", "url": "https://www.uniprot.org/uniprot/A0A5H1ZRR1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5H1ZRR1-1", "url": "https://www.uniprot.org/uniprot/A0A5H1ZRR1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C053", "url": "https://www.uniprot.org/uniprot/H7C053", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C053-1", "url": "https://www.uniprot.org/uniprot/H7C053-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-1", "url": "https://www.uniprot.org/uniprot/O60828-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-10", "url": "https://www.uniprot.org/uniprot/O60828-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-2", "url": "https://www.uniprot.org/uniprot/O60828-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-3", "url": "https://www.uniprot.org/uniprot/O60828-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-4", "url": "https://www.uniprot.org/uniprot/O60828-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-5", "url": "https://www.uniprot.org/uniprot/O60828-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-6", "url": "https://www.uniprot.org/uniprot/O60828-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-7", "url": "https://www.uniprot.org/uniprot/O60828-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-8", "url": "https://www.uniprot.org/uniprot/O60828-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60828-9", "url": "https://www.uniprot.org/uniprot/O60828-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 265, "header": "sp|O60828-1|PQBP1_HUMAN Isoform 1 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "isoforms": [ { "isoform_ac": "A0A5H1ZRR1-1", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAP", "length": 213, "header": "tr|A0A5H1ZRR1-1|PQBP1_HUMAN Computationally mapped isoform of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "X", "start_pos": 48903081, "end_pos": 48898510, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443648", "url": "https://www.ensembl.org/id/ENST00000443648" }, { "database": "Ensembl Peptide", "id": "ENSP00000414861", "url": "https://www.ensembl.org/id/ENSP00000414861" } ] } }, { "isoform_ac": "H7C053-1", "url": "", "sequence": { "sequence": "MDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 62, "header": "tr|H7C053-1|H7C053_HUMAN Computationally mapped isoform of Polyglutamine binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=2 CANONICAL=O60828-1" }, "locus": { "chromosome": "X", "start_pos": 48903081, "end_pos": 48902764, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456306.2", "url": "https://www.ensembl.org/id/ENST00000456306.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000393013.2", "url": "https://www.ensembl.org/id/ENSP00000393013.2" } ] } }, { "isoform_ac": "O60828-1", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 265, "header": "sp|O60828-1|PQBP1_HUMAN Isoform 1 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 61916, "end_pos": 57345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710044.1", "url": "https://www.ensembl.org/id/ENST00000710044.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518014.1", "url": "https://www.ensembl.org/id/ENSP00000518014.1" } ] } }, { "isoform_ac": "O60828-10", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSW", "length": 60, "header": "sp|O60828-10|PQBP1_HUMAN Isoform 10 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": {} }, { "isoform_ac": "O60828-2", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 264, "header": "sp|O60828-2|PQBP1_HUMAN Isoform 2 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": {} }, { "isoform_ac": "O60828-3", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKGKLGRMGLGETNKVQGALREEAFPQKDAWTWG", "length": 224, "header": "sp|O60828-3|PQBP1_HUMAN Isoform 3 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": {} }, { "isoform_ac": "O60828-4", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNAAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 170, "header": "sp|O60828-4|PQBP1_HUMAN Isoform 4 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 61916, "end_pos": 57345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710033.1", "url": "https://www.ensembl.org/id/ENST00000710033.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518006.1", "url": "https://www.ensembl.org/id/ENSP00000518006.1" } ] } }, { "isoform_ac": "O60828-5", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD", "length": 165, "header": "sp|O60828-5|PQBP1_HUMAN Isoform 5 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": {} }, { "isoform_ac": "O60828-6", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKQ", "length": 149, "header": "sp|O60828-6|PQBP1_HUMAN Isoform 6 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 61569, "end_pos": 57345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710041.1", "url": "https://www.ensembl.org/id/ENST00000710041.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518011.1", "url": "https://www.ensembl.org/id/ENSP00000518011.1" } ] } }, { "isoform_ac": "O60828-7", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADLCPQMLKKSWTGAMTSRTGAMTSRTAAMRN", "length": 128, "header": "sp|O60828-7|PQBP1_HUMAN Isoform 7 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 61145, "end_pos": 57345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710049.1", "url": "https://www.ensembl.org/id/ENST00000710049.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518017.1", "url": "https://www.ensembl.org/id/ENSP00000518017.1" } ] } }, { "isoform_ac": "O60828-8", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKRAPLLLECRHRPCILALPT", "length": 73, "header": "sp|O60828-8|PQBP1_HUMAN Isoform 8 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": {} }, { "isoform_ac": "O60828-9", "url": "", "sequence": { "sequence": "MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCPGWSAMV", "length": 67, "header": "sp|O60828-9|PQBP1_HUMAN Isoform 9 of Polyglutamine-binding protein 1 OS=Homo sapiens OX=9606 GN=PQBP1 PE=1 SV=1 CANONICAL=O60828-1" }, "locus": { "chromosome": "HSCHRX_3_CTG3", "start_pos": 60375, "end_pos": 57345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000710037.1", "url": "https://www.ensembl.org/id/ENST00000710037.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000518008.1", "url": "https://www.ensembl.org/id/ENSP00000518008.1" } ] } } ], "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": 120, "start_aa": "Ser", "end_pos": 120, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser120", "evidence": [ { "id": "O60828", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60828" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O60828", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60828" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 229, "start_aa": "Thr", "end_pos": 229, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr229", "evidence": [ { "id": "O60828", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60828" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 233, "start_aa": "Thr", "end_pos": 233, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr233", "evidence": [ { "id": "O60828", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60828" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O60828", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60828" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": 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Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "10332029", "url": "https://glygen.org/publication/PubMed/10332029" } ] }, { "title": "PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2000", "authors": "Waragai M, Junn E, Kajikawa M, Takeuchi S, Kanazawa I, Shibata M, Mouradian M M, Okazawa H", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "10873650", "url": "https://glygen.org/publication/PubMed/10873650" } ] }, { "title": "Functional association of U2 snRNP with the ATP-independent spliceosomal complex E.", "journal": "Molecular cell", "date": "2000", "authors": "Das R, Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "10882114", "url": "https://glygen.org/publication/PubMed/10882114" } ] }, { "title": "The protein Aly links pre-messenger-RNA splicing to nuclear export in metazoans.", "journal": "Nature", "date": "2000", "authors": "Zhou Z, Luo MJ, Straesser K, Katahira J, Hurt E, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11014198", "url": "https://glygen.org/publication/PubMed/11014198" } ] }, { "title": "Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry.", "journal": "The EMBO journal", "date": "2000", "authors": "Ajuh P, Kuster B, Panov K, Zomerdijk JC, Mann M, Lamond AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11101529", "url": "https://glygen.org/publication/PubMed/11101529" } ] }, { "title": "Genomic organization and alternative transcripts of the human PQBP-1 gene.", "journal": "Gene", "date": "2000", "authors": "Iwamoto K, Huang Y, Ueda S", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "11163963", "url": "https://glygen.org/publication/PubMed/11163963" } ] }, { "title": "The 100-kda U5 snRNP protein (hPrp28p) contacts the 5' splice site through its ATPase site.", "journal": "RNA (New York, N.Y.)", "date": "2001", "authors": "Ismaili N, Sha M, Gustafson EH, Konarska MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11233976", "url": "https://glygen.org/publication/PubMed/11233976" } ] }, { "title": "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "11991638", "url": "https://glygen.org/publication/PubMed/11991638" } ] }, { "title": "Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.", "journal": "Neuron", "date": "2002-05-30", "authors": "Okazawa Hitoshi, Rich Tina, Chang Alex, Lin Xi, Waragai Masaaki, Kajikawa Masunori, Enokido Yasushi, Komuro Akihiko, Kato Seishi, Shibata Masao, Hatanaka Hiroshi, Mouradian M Maral, Sudol Marius, Kanazawa Ichiro", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "12062018", "url": "https://glygen.org/publication/PubMed/12062018" } ] }, { "title": "Large-scale proteomic analysis of the human spliceosome.", "journal": "Genome research", "date": "2002", "authors": "Rappsilber J, Ryder U, Lamond AI, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12176931", "url": "https://glygen.org/publication/PubMed/12176931" } ] }, { "title": "Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Makarov EM, Makarova OV, Urlaub H, Gentzel M, Will CL, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12411573", "url": "https://glygen.org/publication/PubMed/12411573" } ] }, { "title": "5' exon interactions within the human spliceosome establish a framework for exon junction complex structure and assembly.", "journal": "Genes & development", "date": "2002", "authors": "Reichert VL, Le Hir H, Jurica MS, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12414731", "url": "https://glygen.org/publication/PubMed/12414731" } ] }, { "title": "Protein composition of human prespliceosomes isolated by a tobramycin affinity-selection method.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hartmuth K, Urlaub H, Vornlocher HP, Will CL, Gentzel M, Wilm M, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "12477934", "url": "https://glygen.org/publication/PubMed/12477934" } ] }, { "title": "A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kataoka N, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": 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Genet.", "date": "2003", "authors": "Kalscheuer Vera M, Freude Kristine, Musante Luciana, Jensen Lars R, Yntema Helger G, G\u00e9cz Jozef, Sefiani Abdelaziz, Hoffmann Kirsten, Moser Bettina, Haas Stefan, Gurok Ulf, Haesler Sebastian, Aranda Beatriz, Nshedjan Arpik, Tzschach Andreas, Hartmann Nils, Roloff Tim-Christoph, Shoichet Sarah, Hagens Olivier, Tao Jiong, Van Bokhoven Hans, Turner Gillian, Chelly Jamel, Moraine Claude, Fryns Jean-Pierre, Nuber Ulrike, Hoeltzenbein Maria, Scharff Constance, Scherthan Harry, Lenzner Steffen, Hamel Ben C J, Schweiger Susann, Ropers Hans-Hilger", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "14634649", "url": "https://glygen.org/publication/PubMed/14634649" } ] }, { "title": "Prp5 bridges U1 and U2 snRNPs and enables stable U2 snRNP association with intron RNA.", "journal": "The EMBO journal", "date": "2004", "authors": "Xu YZ, Newnham CM, Kameoka S, Huang T, Konarska MM, Query CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "14713954", "url": "https://glygen.org/publication/PubMed/14713954" } ] }, { "title": "Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Tange TO, Shibuya T, Jurica MS, Moore MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16314458", "url": "https://glygen.org/publication/PubMed/16314458" } ] }, { "title": "Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.", "journal": "Journal of medical genetics", "date": "2006", "authors": "Lubs H, Abidi FE, Echeverri R, Holloway L, Meindl A, Stevenson RE, Schwartz CE", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "16740914", "url": "https://glygen.org/publication/PubMed/16740914" } ] }, { "title": "Protein composition and electron microscopy structure of affinity-purified human spliceosomal B complexes isolated under physiological conditions.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Deckert J, Hartmuth K, Boehringer D, Behzadnia N, Will CL, Kastner B, Stark H, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "16809785", "url": "https://glygen.org/publication/PubMed/16809785" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Protein composition of human mRNPs spliced in vitro and differential requirements for mRNP protein recruitment.", "journal": "RNA (New York, N.Y.)", "date": "2007", "authors": "Merz C, Urlaub H, Will CL, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17095540", "url": "https://glygen.org/publication/PubMed/17095540" } ] }, { "title": "Composition and three-dimensional EM structure of double affinity-purified, human prespliceosomal A complexes.", "journal": "The EMBO journal", "date": "2007", "authors": "Behzadnia N, Golas MM, Hartmuth K, Sander B, Kastner B, Deckert J, Dube P, Will CL, Urlaub H, Stark H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17332742", "url": "https://glygen.org/publication/PubMed/17332742" } ] }, { "title": "Splicing remodels messenger ribonucleoprotein architecture via eIF4A3-dependent and -independent recruitment of exon junction complex components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Zhang Z, Krainer AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "17606899", "url": "https://glygen.org/publication/PubMed/17606899" } ] }, { "title": "Isolation of an active step I spliceosome and composition of its RNP core.", "journal": "Nature", "date": "2008", "authors": "Bessonov S, Anokhina M, Will CL, Urlaub H, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "18322460", "url": "https://glygen.org/publication/PubMed/18322460" } ] }, { "title": "Distinct activities of the DExD/H-box splicing factor hUAP56 facilitate stepwise assembly of the spliceosome.", "journal": "Genes & development", "date": "2008", "authors": "Shen H, Zheng X, Shen J, Zhang L, Zhao R, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "18593880", "url": "https://glygen.org/publication/PubMed/18593880" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" }, { "database": "iPTMnet", "id": "O60828-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60828-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Isolation and characterization of post-splicing lariat-intron complexes.", "journal": "Nucleic acids research", "date": "2009", "authors": "Yoshimoto R, Kataoka N, Okawa K, Ohno M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "19103666", "url": 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Biophys. 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[ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "neuronal ribonucleoprotein granule", "id": "GO:0071598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071598", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "alternative mRNA splicing, via spliceosome", "id": "GO:0000380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000380", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "O60828", "url": "https://www.uniprot.org/uniprot/O60828" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "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": [ 120, 229, 233, 247 ], "snv_sites": [ 129, 136, 177, 247 ], "glycation_sites": [], "phosphorylation_sites": [ 94, 245, 247 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "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": 4 } ], "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": 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