{ "uniprot_canonical_ac": "O00268-1", "uniprot_ac": "O00268", "uniprot_id": "TAF4_HUMAN", "mass": { "chemical_mass": 110114.0, "monoisotopic_mass": 110114.0 }, "refseq": { "ac": "NP_003176", "name": "transcription initiation factor TFIID subunit 4", "summary": "Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" }, "gene_names": [ { "name": "TAF4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" }, { "name": "MRD73; TAF(II)130; TAF(II)135; TAF2C; TAF2C1; TAF4A; TAFII-130; TAFII-135; TAFII130; TAFII135", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176", "id": "NP_003176" }, { "name": "TAF2C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" }, { "name": "TAF2C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" }, { "name": "TAF4A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" }, { "name": "TAF4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176", "id": "NP_003176" }, { "name": "TAFII130", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" }, { "name": "TAFII135", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00268", "id": "O00268" } ], "protein_names": [ { "name": "Transcription initiation factor TFIID subunit 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00268" }, { "name": "RNA polymerase II TBP-associated factor subunit C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAF(II)130", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAF(II)135", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAFII-130", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAFII-135", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAFII130", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TAFII135", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD; TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD; transcription initiation factor TFIID 135 kD subunit; TBP-associated factor 4; RNA polymerase II TBP-associated factor subunit C; transcription initiation factor TFIID 135 kDa subunit; transcription initiation factor TFIID 130 kDa subunit; TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176", "id": "NP_003176" }, { "name": "TBP-associated factor 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "Transcription initiation factor TFIID 130 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "Transcription initiation factor TFIID 135 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00268" }, { "name": "transcription initiation factor TFIID subunit 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176", "id": "NP_003176" } ], "function": [ { "annotation": "Alphaalpha-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes.", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" }, { "database": "PubMed", "id": "35452682", "url": "https://glygen.org/publication/PubMed/35452682" } ] }, { "annotation": "Data suggest that many TATA-box-containing promoters contain a TFIIA recognition element (IIARE) that activates transcription by increasing the recruitment of RNA polymerase II, TFIIA (TF2A1/TF2A2 subunits), TAF4, and P300. (TAF4 = TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1; P300 = E1A binding protein p300)", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" }, { "database": "PubMed", "id": "28539359", "url": "https://glygen.org/publication/PubMed/28539359" } ] }, { "annotation": "De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" }, { "database": "PubMed", "id": "35904126", "url": "https://glygen.org/publication/PubMed/35904126" } ] }, { "annotation": "Identification of heteromolecular binding sites in transcription factors Sp1 and TAF4 using high-resolution nuclear magnetic resonance spectroscopy has been reported.", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" }, { "database": "PubMed", "id": "28857320", "url": "https://glygen.org/publication/PubMed/28857320" } ] }, { "annotation": "Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" } ] }, { "annotation": "The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473, PubMed:10594036, PubMed:8942982). TAF4 may maintain an association between the TFIID and TFIIA complexes, while bound to the promoter, together with TBP, during PIC assembly (PubMed:33795473). Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone (PubMed:9192867).", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268#function" }, { "database": "PubMed", "id": "33795473", "url": "https://glygen.org/publication/PubMed/33795473" }, { "database": "PubMed", "id": "10594036", "url": "https://glygen.org/publication/PubMed/10594036" }, { "database": "PubMed", "id": "9192867", "url": "https://glygen.org/publication/PubMed/9192867" }, { "database": "PubMed", "id": "8942982", "url": "https://glygen.org/publication/PubMed/8942982" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs753010000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753010000" }, { "id": "rs753010000", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753010000" }, { "id": "rs753010000", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753010000#frequency_tab" }, { "id": "rs753010000", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753010000" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 537, "end_pos": 537, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAT->NAT); o-glyco-site-loss (S->N).", "chr_id": "20", "chr_pos": "62012846", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S537", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00268", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00268" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 723, "end_pos": 723, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SLT->NLT); o-glyco-site-loss (S->N).", "chr_id": "20", "chr_pos": "62006565", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S723", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1286458316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286458316" }, { "id": "rs1286458316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1286458316#frequency_tab" }, { "id": "rs1286458316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286458316" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "20", "chr_pos": "62065414", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1286458316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1286458316" }, { "id": "rs1286458316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1286458316#frequency_tab" }, { "id": "rs1286458316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1286458316" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "20", "chr_pos": "62065414", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1218332548", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218332548" }, { "id": "rs1218332548", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1218332548#frequency_tab" }, { "id": "rs1218332548", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218332548" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 133, "end_pos": 133, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "20", "chr_pos": "62065413", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs113875178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113875178" }, { "id": "rs113875178", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113875178" }, { "id": "rs113875178", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs113875178#frequency_tab" }, { "id": "rs113875178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs113875178" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 136, "end_pos": 136, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "20", "chr_pos": "62065405", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1460411611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460411611" }, { "id": "rs1460411611", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460411611" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 136, "end_pos": 136, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "20", "chr_pos": "62065404", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S136", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775245345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775245345" }, { "id": "rs775245345", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775245345" }, { "id": "rs775245345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775245345" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 222, "end_pos": 222, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "20", "chr_pos": "62065147", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775245345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775245345" }, { "id": "rs775245345", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775245345" }, { "id": "rs775245345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775245345" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 222, "end_pos": 222, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGT).", "chr_id": "20", "chr_pos": "62065147", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749446424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749446424" }, { "id": "rs749446424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749446424" }, { "id": "rs749446424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749446424#frequency_tab" }, { "id": "rs749446424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749446424" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 409, "end_pos": 409, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "20", "chr_pos": "62064585", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T409", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs866620165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866620165" }, { "id": "rs866620165", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs866620165" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "20", "chr_pos": "62064573", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239287576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239287576" }, { "id": "rs1239287576", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239287576#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "20", "chr_pos": "62064574", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778598147", "database": "dbSNP", "url": 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"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": 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"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", 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"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 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"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, 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"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", 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" 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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00268", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00268" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00268", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00268" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00268", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00268" } ], "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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"Ensembl Transcript", "id": "ENST00000692470.1", "url": "https://www.ensembl.org/id/ENST00000692470.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510589.1", "url": "https://www.ensembl.org/id/ENSP00000510589.1" } ] } }, { "isoform_ac": "A0A8I5KW49-1", "url": "", "sequence": { "sequence": "KQVSQAQTTVQPSATLQRSPGVQSHRI", "length": 27, "header": "tr|A0A8I5KW49-1|A0A8I5KW49_HUMAN Computationally mapped isoform of TATA-box binding protein associated factor 4 OS=Homo sapiens OX=9606 GN=TAF4 PE=1 SV=1 CANONICAL=O00268-1" }, "locus": { "chromosome": "20", "start_pos": 62012883, "end_pos": 62012588, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609045.1", "url": "https://www.ensembl.org/id/ENST00000609045.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510464.1", "url": "https://www.ensembl.org/id/ENSP00000510464.1" } ] } }, { "isoform_ac": "O00268-1", "url": "", "sequence": { "sequence": "MAAGSDLLDEVFFNSEVDEKVVSDLVGSLESQLAASAAHHHHLAPRTPEVRAAAAGALGNHVVSGSPAGAAGAGPAAPAEGAPGAAPEPPPAGRARPGGGGPQRPGPPSPRRPLVPAGPAPPAAKLRPPPEGSAGSCAPVPAAAAVAAGPEPAPAGPAKPAGPAALAARAGPGPGPGPGPGPGPGPGKPAGPGAAQTLNGSAALLNSHHAAAPAVSLVNNGPAALLPLPKPAAPGTVIQTPPFVGAAAPPAPAAPSPPAAPAPAAPAAAPPPPPPAPATLARPPGHPAGPPTAAPAVPPPAAAQNGGSAGAAPAPAPAAGGPAGVSGQPGPGAAAAAPAPGVKAESPKRVVQAAPPAAQTLAASGPASTAASMVIGPTMQGALPSPAAVPPPAPGTPTGLPKGAAGAVTQSLSRTPTATTSGIRATLTPTVLAPRLPQPPQNPTNIQNFQLPPGMVLVRSENGQLLMIPQQALAQMQAQAHAQPQTTMAPRPATPTSAPPVQISTVQAPGTPIIARQVTPTTIIKQVSQAQTTVQPSATLQRSPGVQPQLVLGGAAQTASLGTATAVQTGTPQRTVPGATTTSSAATETMENVKKCKNFLSTLIKLASSGKQSTETAANVKELVQNLLDGKIEAEDFTSRLYRELNSSPQPYLVPFLKRSLPALRQLTPDSAAFIQQSQQQPPPPTSQATTALTAVVLSSSVQRTAGKTAATVTSALQPPVLSLTQPTQVGVGKQGQPTPLVIQQPPKPGALIRPPQVTLTQTPMVALRQPHNRIMLTTPQQIQLNPLQPVPVVKPAVLPGTKALSAVSAQAAAAQKNKLKEPGGGSFRDDDDINDVASMAGVNLSEESARILATNSELVGTLTRSCKDETFLLQAPLQRRILEIGKKHGITELHPDVVSYVSHATQQRLQNLVEKISETAQQKNFSYKDDDRYEQASDVRAQLKFFEQLDQIEKQRKDEQEREILMRAAKSRSRQEDPEQLRLKQKAKEMQQQELAQMRQRDANLTALAAIGPRKKRKVDCPGPGSGAEGSGPGSVVPGSSGVGTPRQFTRQRITRVNLRDLIFCLENERETSHSLLLYKAFLK", "length": 1085, "header": "sp|O00268-1|TAF4_HUMAN Isoform 1 of Transcription initiation factor TFIID subunit 4 OS=Homo sapiens OX=9606 GN=TAF4 PE=1 SV=2 CANONICAL=O00268-1" }, "locus": { "chromosome": "20", "start_pos": 62065810, "end_pos": 61976171, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252996.9", "url": "https://www.ensembl.org/id/ENST00000252996.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000252996.3", "url": "https://www.ensembl.org/id/ENSP00000252996.3" } ] } }, { "isoform_ac": "V9GY03-1", "url": "", "sequence": { "sequence": "XSRQEDPEQLRLKQKAKEMQQQELAQMRQRDANLTALAAIGPRKKRKVDCPGPGSGAEASVALSKQRAQGERPGWSPCR", "length": 79, "header": "tr|V9GY03-1|V9GY03_HUMAN Computationally mapped isoform of Transcription initiation factor TFIID subunit 4 OS=Homo sapiens OX=9606 GN=TAF4 PE=1 SV=1 CANONICAL=O00268-1" }, "locus": { "chromosome": "20", "start_pos": 61998187, "end_pos": 61953764, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474089.5", "url": "https://www.ensembl.org/id/ENST00000474089.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476270.1", "url": "https://www.ensembl.org/id/ENSP00000476270.1" } ] } }, { "isoform_ac": "V9GY14-1", "url": "", "sequence": { "sequence": "VPFLKRSLPALRQLTPDSAAFIQQSQQQPPPPTSQATTALTAVVLSSSVQRTAGKTAATVTSALQPPVLSLTQPTQVIQQPPKPGALIRPPQVTLTQTPMVALRQPHNRIMLTTPQQIQLNPLQPVPVVKPAVLPGTKALSAVSAQAAAAQKNKLKEPGGGSFRDDDDINDVASMAGVNLSEESARILATNSELVGTLTRSCKDETFLLQAPLQR", "length": 215, "header": "tr|V9GY14-1|V9GY14_HUMAN Computationally mapped isoform of Transcription initiation factor TFIID subunit 4 OS=Homo sapiens OX=9606 GN=TAF4 PE=1 SV=1 CANONICAL=O00268-1" }, "locus": { "chromosome": "20", "start_pos": 62007561, "end_pos": 62000568, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488539.1", "url": "https://www.ensembl.org/id/ENST00000488539.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476294.1", "url": "https://www.ensembl.org/id/ENSP00000476294.1" } ] } } ], "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": 133, "start_aa": "Ser", "end_pos": 133, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser133", "evidence": [ { "id": "O00268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 136, "start_aa": "Ser", "end_pos": 136, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser136", "evidence": [ { "id": "O00268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 409, "start_aa": "Thr", "end_pos": 409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr409", "evidence": [ { "id": "O00268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "O00268", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00268" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 411, "start_aa": "Ser", "end_pos": 411, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser411", "evidence": [ { "id": "O00268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "O00268", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00268" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 413, "start_aa": "Ser", "end_pos": 413, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser413", "evidence": [ { "id": "O00268", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "27114449", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27114449" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "34846842", "database": 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Biol. Chem.", "date": "1999", "authors": "Brand M, Yamamoto K, Staub A, Tora L", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "10373431", "url": "https://glygen.org/publication/PubMed/10373431" } ] }, { "title": "The ataxia-telangiectasia related protein ATR mediates DNA-dependent phosphorylation of p53.", "journal": "Oncogene", "date": "1999", "authors": "Lakin ND, Hann BC, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10435622", "url": "https://glygen.org/publication/PubMed/10435622" } ] }, { "title": "Regulation of cyclin-dependent kinase 5 catalytic activity by phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sharma P, Sharma M, Amin ND, Albers RW, Pant HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10500146", "url": "https://glygen.org/publication/PubMed/10500146" } ] }, { "title": "Phosphorylation of Ser-20 mediates stabilization of human p53 in response to DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Chehab NH, Malikzay A, Stavridi ES, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "title": "The human TFIID components TAF(II)135 and TAF(II)20 and the yeast SAGA components ADA1 and TAF(II)68 heterodimerize to form histone-like pairs.", "journal": "Molecular and cellular biology", "date": "2000", 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"https://www.reactome.org/PathwayBrowser/#R-HSA-73776" } ], "reference": [ { "type": "PubMed", "id": "11433015", "url": "https://glygen.org/publication/PubMed/11433015" } ] }, { "title": "Reactive oxygen species-induced phosphorylation of p53 on serine 20 is mediated in part by polo-like kinase-3.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xie S, Wang Q, Wu H, Cogswell J, Lu L, Jhanwar-Uniyal M, Dai W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11447225", "url": "https://glygen.org/publication/PubMed/11447225" } ] }, { "title": "Promoter clearance by RNA polymerase II is an extended, multistep process strongly affected by sequence.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Pal M, McKean D, Luse DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-73776", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73776" } ], "reference": [ { "type": "PubMed", "id": "11486021", "url": "https://glygen.org/publication/PubMed/11486021" } ] }, { "title": "p53DINP1, a p53-inducible gene, regulates p53-dependent apoptosis.", "journal": "Molecular cell", "date": "2001", "authors": "Okamura S, Arakawa H, Tanaka T, Nakanishi H, Ng CC, Taya Y, Monden M, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11511362", "url": "https://glygen.org/publication/PubMed/11511362" } ] }, { "title": "Cloning and characterization of a p53-related protein kinase expressed in interleukin-2-activated cytotoxic T-cells, epithelial tumor cell lines, and the testes.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Abe Y, Matsumoto S, Wei S, Nezu K, Miyoshi A, Kito K, Ueda N, Shigemoto K, Hitsumoto Y, Nikawa J, Enomoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11546806", "url": "https://glygen.org/publication/PubMed/11546806" } ] }, { "title": "Plk3 functionally links DNA damage to cell cycle arrest and apoptosis at least in part via the p53 pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Xie S, Wu H, Wang Q, Cogswell JP, Husain I, Conn C, Stambrook P, Jhanwar-Uniyal M, Dai W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11551930", "url": "https://glygen.org/publication/PubMed/11551930" } ] }, { "title": "Strong natural pausing by RNA polymerase II within 10 bases of transcription start may result in repeated slippage and reextension of the nascent RNA.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Pal M, Luse DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-167162", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167162" } ], "reference": [ { "type": "PubMed", "id": "11739720", "url": "https://glygen.org/publication/PubMed/11739720" } ] }, { "title": "Regulation of p53 activity by its interaction with homeodomain-interacting protein kinase-2.", "journal": "Nature cell biology", "date": "2002", "authors": "Hofmann TG, Moller A, Sirma H, Zentgraf H, Taya Y, Droge W, Will H, Schmitz ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11740489", "url": "https://glygen.org/publication/PubMed/11740489" } ] }, { "title": "Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46 and mediates apoptosis.", "journal": "Nature cell biology", "date": "2002", "authors": "D'Orazi G, Cecchinelli B, Bruno T, Manni I, Higashimoto Y, Saito S, Gostissa M, Coen S, Marchetti A, Del Sal G, Piaggio G, Fanciulli M, Appella E, Soddu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "11780126", "url": "https://glygen.org/publication/PubMed/11780126" } ] }, { "title": "Translocation after synthesis of a four-nucleotide RNA commits RNA polymerase II to promoter escape.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Kugel JF, Goodrich JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-167162", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167162" } ], "reference": [ { "type": "PubMed", "id": "11784853", "url": "https://glygen.org/publication/PubMed/11784853" } ] }, { "title": "A Rad26-Def1 complex coordinates repair and RNA pol II proteolysis in response to DNA damage.", "journal": "Nature", "date": "2002", "authors": "Woudstra EC, Gilbert C, Fellows J, Jansen L, Brouwer J, Erdjument-Bromage H, Tempst P, Svejstrup JQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "11859374", "url": "https://glygen.org/publication/PubMed/11859374" } ] }, { "title": "P-TEFb containing cyclin K and Cdk9 can activate transcription via RNA.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Lin X, Taube R, Fujinaga K, Peterlin BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "11884399", "url": "https://glygen.org/publication/PubMed/11884399" } ] }, { "title": "Cdk5 phosphorylates p53 and regulates its activity.", "journal": "Journal of neurochemistry", "date": "2002", "authors": "Zhang J, Krishnamurthy PK, Johnson GV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12064478", "url": "https://glygen.org/publication/PubMed/12064478" } ] }, { "title": "p53 serine 392 phosphorylation increases after UV through induction of the assembly of the CK2.hSPT16.SSRP1 complex.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Keller DM, Lu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12393879", "url": "https://glygen.org/publication/PubMed/12393879" } ] }, { "title": "Novel subunits of the TATA binding protein free TAFII-containing transcription complex identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry following one-dimensional gel electrophoresis.", "journal": "Proteomics", "date": "2003", "authors": "Cavusoglu N, Brand M, Tora L, Van Dorsselaer A", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "12601814", "url": "https://glygen.org/publication/PubMed/12601814" } ] }, { "title": "The RNA polymerase II elongation complex.", "journal": "Annual review of biochemistry", "date": "2003", "authors": "Shilatifard A, Conaway RC, Conaway JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "12676794", "url": "https://glygen.org/publication/PubMed/12676794" } ] }, { "title": "Characterization of cells and gene-targeted mice deficient for the p53-binding kinase homeodomain-interacting protein kinase 1 (HIPK1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Kondo S, Lu Y, Debbas M, Lin AW, Sarosi I, Itie A, Wakeham A, Tuan J, Saris C, Elliott G, Ma W, Benchimol S, Lowe SW, Mak TW, Thukral SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12702766", "url": "https://glygen.org/publication/PubMed/12702766" } ] }, { "title": "TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are partners in regulating p53 activity.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tomasini R, Samir AA, Carrier A, Isnardon D, Cecchinelli B, Soddu S, Malissen B, Dagorn JC, Iovanna JL, Dusetti NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12851404", "url": "https://glygen.org/publication/PubMed/12851404" } ] }, { "title": "Functional homology between yeast piD261/Bud32 and human PRPK: both phosphorylate p53 and PRPK partially complements piD261/Bud32 deficiency.", "journal": "FEBS letters", "date": "2003", "authors": "Facchin S, Lopreiato R, Ruzzene M, Marin O, Sartori G, Gotz C, Montenarh M, Carignani G, Pinna LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "12914926", "url": "https://glygen.org/publication/PubMed/12914926" } ] }, { "title": "Polymerase II promoter activation: closed complex formation and ATP-driven start site opening.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Wang W, Carey M, Gralla JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-167161", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167161" } ], "reference": [ { "type": "PubMed", "id": "1310361", "url": "https://glygen.org/publication/PubMed/1310361" } ] }, { "title": "Phosphorylation by aurora kinase A induces Mdm2-mediated destabilization and inhibition of p53.", "journal": "Nature genetics", "date": "2004", "authors": "Katayama H, Sasai K, Kawai H, Yuan ZM, Bondaruk J, Suzuki F, Fujii S, Arlinghaus RB, Czerniak BA, Sen S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "14702041", "url": "https://glygen.org/publication/PubMed/14702041" } ] }, { "title": "Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression.", "journal": "Molecular cell", "date": "2004", "authors": "Li HH, Li AG, Sheppard HM, Liu X", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "15053879", "url": "https://glygen.org/publication/PubMed/15053879" } ] }, { "title": "Elongation by RNA polymerase II: the short and long of it.", "journal": "Genes & development", "date": "2004", "authors": "Sims RJ 3rd, Belotserkovskaya R, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "15489290", "url": "https://glygen.org/publication/PubMed/15489290" } ] }, { "title": "A functional interaction between ATF7 and TAF12 that is modulated by TAF4.", "journal": "Oncogene", "date": "2005", "authors": "Hamard PJ, Dalbies-Tran R, Hauss C, Davidson I, Kedinger C, Chatton B", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "15735663", "url": "https://glygen.org/publication/PubMed/15735663" } ] }, { "title": "AMP-activated protein kinase induces a p53-dependent metabolic checkpoint.", "journal": "Molecular cell", "date": "2005", "authors": "Jones RG, Plas DR, Kubek S, Buzzai M, Mu J, Xu Y, Birnbaum MJ, Thompson CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "15866171", "url": "https://glygen.org/publication/PubMed/15866171" } ] }, { "title": "Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.", "journal": "Cell", "date": "2005", "authors": "Dou Y, Milne TA, Tackett AJ, Smith ER, Fukuda A, Wysocka J, Allis CD, Chait BT, Hess JL, Roeder RG", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "15960975", "url": "https://glygen.org/publication/PubMed/15960975" } ] }, { "title": "NIR is a novel INHAT repressor that modulates the transcriptional activity of p53.", "journal": "Genes & development", "date": "2005", "authors": "Hublitz P, Kunowska N, Mayer UP, Muller JM, Heyne K, Yin N, Fritzsche C, Poli C, Miguet L, Schupp IW, van Grunsven LA, Potiers N, van Dorsselaer A, Metzger E, Roemer K, Schule R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "16322561", "url": "https://glygen.org/publication/PubMed/16322561" } ] }, { "title": "LKB1 is recruited to the p21/WAF1 promoter by p53 to mediate transcriptional activation.", "journal": "Cancer research", "date": "2006", "authors": "Zeng PY, Berger SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "17108107", "url": "https://glygen.org/publication/PubMed/17108107" } ] }, { "title": "DYRK2 is targeted to the nucleus and controls p53 via Ser46 phosphorylation in the apoptotic response to DNA damage.", "journal": "Molecular cell", "date": "2007", "authors": "Taira N, Nihira K, Yamaguchi T, Miki Y, Yoshida K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "17349958", "url": "https://glygen.org/publication/PubMed/17349958" } ] }, { "title": "Conserved region I of human coactivator TAF4 binds to a short hydrophobic motif present in transcriptional regulators.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Wang Xiaoping, Truckses Dagmar M, Takada Shinako, Matsumura Tatsushi, Tanese Naoko, Jacobson Raymond H", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "17483474", "url": "https://glygen.org/publication/PubMed/17483474" } ] }, { "title": "Stabilization and activation of p53 induced by Cdk5 contributes to neuronal cell death.", "journal": "Journal of cell science", "date": "2007", "authors": "Lee JH, Kim HS, Lee SJ, Kim KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "17591690", "url": "https://glygen.org/publication/PubMed/17591690" } ] }, { "title": "Cooperative roles of c-Abl and Cdk5 in regulation of p53 in response to oxidative stress.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Lee JH, Jeong MW, Kim W, Choi YH, Kim KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "18490454", "url": "https://glygen.org/publication/PubMed/18490454" } ] }, { "title": "Phosphorylation of p53 is regulated by TPX2-Aurora A in xenopus oocytes.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pascreau G, Eckerdt F, Lewellyn AL, Prigent C, Maller JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "19121998", "url": "https://glygen.org/publication/PubMed/19121998" } ] }, { "title": "Abortive initiation is increased only for the weakest members of a set of down mutants of the adenovirus 2 major late promoter.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Jacob GA, Luse SW, Luse DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-167162", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167162" } ], "reference": [ { "type": "PubMed", "id": "1939271", "url": "https://glygen.org/publication/PubMed/1939271" } ] }, { "title": "ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Taira N, Yamamoto H, Yamaguchi T, Miki Y, Yoshida K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "19965871", "url": "https://glygen.org/publication/PubMed/19965871" } ] }, { "title": "Extensive crosstalk between O-GlcNAcylation and phosphorylation regulates cytokinesis.", "journal": "Science signaling", "date": "2010", "authors": "Wang Z, Udeshi ND, Slawson C, Compton PD, Sakabe K, Cheung WD, Shabanowitz J, Hunt DF, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" }, { "database": "GlyConnect", "id": "2870", "url": "https://glyconnect.expasy.org/browser/proteins/2870" } ], "reference": [ { "type": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O00268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00268" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its DNA-binding domain and subsequent functional suppression.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu L, Ma CA, Zhao Y, Jain A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "20959462", "url": "https://glygen.org/publication/PubMed/20959462" } ] }, { "title": "A new role of NUAK1: directly phosphorylating p53 and regulating cell proliferation.", "journal": "Oncogene", "date": "2011", "authors": "Hou X, Liu JE, Liu W, Liu CY, Liu ZY, Sun ZY", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "21317932", "url": "https://glygen.org/publication/PubMed/21317932" } ] }, { "title": "Recurrent R-spondin fusions in colon cancer.", "journal": "Nature", "date": "2012", "authors": "Seshagiri S, Stawiski EW, Durinck S, Modrusan Z, Storm EE, Conboy CB, Chaudhuri S, Guan Y, Janakiraman V, Jaiswal BS, Guillory J, Ha C, Dijkgraaf GJ, Stinson J, Gnad F, Huntley MA, Degenhardt JD, Haverty PM, Bourgon R, Wang W, Koeppen H, Gentleman R, Starr TK, Zhang Z, Largaespada DA, Wu TD, de Sauvage FJ", "evidence": [ { "database": "dbSNP", "id": "rs773556477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773556477" } ], "reference": [ { "type": "PubMed", "id": "22895193", "url": "https://glygen.org/publication/PubMed/22895193" } ] }, { "title": "HIPK2 kinase activity depends on cis-autophosphorylation of its activation loop.", "journal": "Journal of molecular cell biology", "date": "2013", "authors": "Saul VV, de la Vega L, Milanovic M, Kruger M, Braun T, Fritz-Wolf K, Becker K, Schmitz ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "23000554", "url": "https://glygen.org/publication/PubMed/23000554" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" }, { "database": "iPTMnet", "id": "O00268", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00268" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "HIPK2 catalytic activity and subcellular localization are regulated by activation-loop Y354 autophosphorylation.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Siepi F, Gatti V, Camerini S, Crescenzi M, Soddu S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "23485397", "url": "https://glygen.org/publication/PubMed/23485397" } ] }, { "title": "HIPK1 drives p53 activation to limit colorectal cancer cell growth.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2013", "authors": "Rey C, Soubeyran I, Mahouche I, Pedeboscq S, Bessede A, Ichas F, De Giorgi F, Lartigue L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "23676219", "url": "https://glygen.org/publication/PubMed/23676219" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Autophosphorylation and Pin1 binding coordinate DNA damage-induced HIPK2 activation and cell death.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Bitomsky N, Conrad E, Moritz C, Polonio-Vallon T, Sombroek D, Schultheiss K, Glas C, Greiner V, Herbel C, Mantovani F, del Sal G, Peri F, Hofmann TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "24145406", "url": "https://glygen.org/publication/PubMed/24145406" } ] }, { "title": "ATP activates transcription initiation from promoters by RNA polymerase II in a reversible step prior to RNA synthesis.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Conaway RC, Conaway JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-167172", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167172" } ], "reference": [ { "type": "PubMed", "id": "2449431", "url": "https://glygen.org/publication/PubMed/2449431" } ] }, { "title": "AMPK couples p73 with p53 in cell fate decision.", "journal": "Cell death and differentiation", "date": "2014", "authors": "Adamovich Y, Adler J, Meltser V, Reuven N, Shaul Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "24874608", "url": "https://glygen.org/publication/PubMed/24874608" } ] }, { "title": "A Novel Quantitative Mass Spectrometry Platform for Determining Protein O-GlcNAcylation Dynamics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2016", "authors": "Wang X, Yuan ZF, Fan J, Karch KR, Ball LE, Denu JM, Garcia BA", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "27114449", "url": "https://glygen.org/publication/PubMed/27114449" } ] }, { "title": "A transcription factor IIA-binding site differentially regulates RNA polymerase II-mediated transcription in a promoter context-dependent manner.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Wang J, Zhao S, He W, Wei Y, Zhang Y, Pegg H, Shore P, Roberts SGE, Deng W", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" } ], "reference": [ { "type": "PubMed", "id": "28539359", "url": "https://glygen.org/publication/PubMed/28539359" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Identification of heteromolecular binding sites in transcription factors Sp1 and TAF4 using high-resolution nuclear magnetic resonance spectroscopy.", "journal": "Protein science : a publication of the Protein Society", "date": "2017", "authors": "Hibino E, Inoue R, Sugiyama M, Kuwahara J, Matsuzaki K, Hoshino M", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" } ], "reference": [ { "type": "PubMed", "id": "28857320", "url": "https://glygen.org/publication/PubMed/28857320" } ] }, { "title": "Artificial Cysteine S-Glycosylation Induced by Per-O-Acetylated Unnatural Monosaccharides during Metabolic Glycan Labeling.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2018", "authors": "Qin W, Qin K, Fan X, Peng L, Hong W, Zhu Y, Lv P, Du Y, Huang R, Han M, Cheng B, Liu Y, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" }, { "database": "GlyGen", "id": "GLY_000142", "url": "https://data.glygen.org/GLY_000142" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Quantitative Profiling of Protein O-GlcNAcylation Sites by an Isotope-Tagged Cleavable Linker.", "journal": "ACS chemical biology", "date": "2018", "authors": "Qin K, Zhu Y, Qin W, Gao J, Shao X, Wang YL, Zhou W, Wang C, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "30059200", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "32119511", "url": "https://glygen.org/publication/PubMed/32119511" } ] }, { "title": "A Chemoenzymatic Method Based on Easily Accessible Enzymes for Profiling Protein O-GlcNAcylation.", "journal": "Analytical chemistry", "date": "2020", "authors": "Xu S, Sun F, Wu R", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" }, { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "32574038", "url": "https://glygen.org/publication/PubMed/32574038" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "O00268", "url": "https://oglcnac.org/atlas/detail/O00268" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "Structural insights into preinitiation complex assembly on core promoters.", "journal": "Science (New York, N.Y.)", "date": "2021-04-30", "authors": "Chen Xizi, Qi Yilun, Wu Zihan, Wang Xinxin, Li Jiabei, Zhao Dan, Hou Haifeng, Li Yan, Yu Zishuo, Liu Weida, Wang Mo, Ren Yulei, Li Ze, Yang Huirong, Xu Yanhui", "evidence": [ { "database": "UniProtKB", "id": "O00268", "url": "https://www.uniprot.org/uniprot/O00268" } ], "reference": [ { "type": "PubMed", "id": "33795473", "url": "https://glygen.org/publication/PubMed/33795473" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "Highly Efficient Enrichment of O-GlcNAc Glycopeptides Based on Chemical Oxidation and Reversible Hydrazide Chemistry.", "journal": 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O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00268", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00268" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "alphaalpha-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes.", "journal": "The Journal of biological chemistry", "date": "2022", "authors": "Friis Theisen F, Salladini E, Davidsen R, Jo Rasmussen C, Staby L, Kragelund BB, Skriver K", "evidence": [ { "database": "RefSeq", "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176" } ], "reference": [ { "type": "PubMed", "id": "35452682", "url": 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