{ "uniprot_canonical_ac": "O60563-1", "uniprot_ac": "O60563", "uniprot_id": "CCNT1_HUMAN", "mass": { "chemical_mass": 80685.0, "monoisotopic_mass": 80685.0 }, "refseq": { "ac": "NP_001231", "name": "cyclin-T1 isoform a", "summary": "This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231" }, "gene_names": [ { "name": "CCNT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60563", "id": "O60563" }, { "name": "CCNT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231", "id": "NP_001231" }, { "name": "CCNT; CYCT1; HIVE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231", "id": "NP_001231" } ], "protein_names": [ { "name": "Cyclin-T1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60563" }, { "name": "CycT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60563" }, { "name": "Cyclin-T", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60563" }, { "name": "cyclin-T1 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231", "id": "NP_001231" }, { "name": "human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1; cyclin C-related protein; CDK9-associated C-type protein; MLLT10/CCNT1 fusion", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231", "id": "NP_001231" } ], "function": [ { "annotation": "(Microbial infection) In case of HIV or SIV infections, binds to the transactivation domain of the viral nuclear transcriptional activator, Tat, thereby increasing Tat's affinity for the transactivating response RNA element (TAR RNA). Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes.", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563#function" }, { "database": "PubMed", "id": "10329125", "url": "https://glygen.org/publication/PubMed/10329125" }, { "database": "PubMed", "id": "10329126", "url": "https://glygen.org/publication/PubMed/10329126" } ] }, { "annotation": "A CRISPR Screen of HIV Dependency Factors Reveals That CCNT1 Is Non-Essential in T Cells but Required for HIV-1 Reactivation from Latency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231" }, { "database": "PubMed", "id": "37766271", "url": "https://glygen.org/publication/PubMed/37766271" } ] }, { "annotation": "CYCT1b is a newly identified cyclin T1 splice variant whose expression leads to direct inhibition of TAT-transactivated transcription of the HIV-1 LTR promoter", "evidence": [ { "database": "RefSeq", "id": "NP_001231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231" }, { "database": "PubMed", "id": "23569210", "url": "https://glygen.org/publication/PubMed/23569210" } ] }, { "annotation": "Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II) (PubMed:16109376, PubMed:16109377, PubMed:35393539, PubMed:30134174). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II (PubMed:29849146, PubMed:35393539).", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563#function" }, { "database": "PubMed", "id": "16109376", "url": "https://glygen.org/publication/PubMed/16109376" }, { "database": "PubMed", "id": "16109377", "url": "https://glygen.org/publication/PubMed/16109377" }, { "database": "PubMed", "id": "30134174", "url": "https://glygen.org/publication/PubMed/30134174" }, { "database": "PubMed", "id": "35393539", "url": "https://glygen.org/publication/PubMed/35393539" }, { "database": "PubMed", "id": "29849146", "url": "https://glygen.org/publication/PubMed/29849146" } ] }, { "annotation": "This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O60563", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60563" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 277, "end_pos": 277, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "12", "chr_pos": "48694383", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K277", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "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 kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781602950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781602950" }, { "id": "rs781602950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781602950" }, { "id": "rs781602950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781602950#frequency_tab" }, { "id": "rs781602950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781602950" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 356, "end_pos": 356, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "12", "chr_pos": "48694148", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759583949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759583949" }, { "id": "rs759583949", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759583949" }, { "id": "rs759583949", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759583949#frequency_tab" }, { "id": "rs759583949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759583949" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 367, "end_pos": 367, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "12", "chr_pos": "48694115", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs767190434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767190434" }, { "id": "rs767190434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767190434" }, { "id": "rs767190434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767190434" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 499, "end_pos": 499, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).", "chr_id": "12", "chr_pos": "48693718", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S499", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762511698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762511698" }, { "id": "rs762511698", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762511698" }, { "id": "rs762511698", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762511698#frequency_tab" }, { "id": "rs762511698", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762511698" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 556, "end_pos": 556, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HKT->NKT).", "chr_id": "12", "chr_pos": "48693548", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H556", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777008956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777008956" }, { "id": "rs777008956", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777008956" }, { "id": "rs777008956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777008956" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 560, "end_pos": 560, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "12", "chr_pos": "48693535", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S560", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1164245033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164245033" }, { "id": "rs1164245033", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1164245033#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 566, "end_pos": 566, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "12", "chr_pos": "48693517", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S566", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754742528", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754742528" }, { "id": "rs754742528", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs754742528" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 569, "end_pos": 569, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "12", "chr_pos": "48693508", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S569", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752068684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752068684" }, { "id": "rs752068684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752068684" }, { "id": "rs752068684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752068684" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 59, "end_pos": 59, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (INT->NNT).", "chr_id": "12", "chr_pos": "48714510", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I59", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1449551198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449551198" }, { "id": "rs1449551198", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449551198#frequency_tab" }, { "id": "rs1449551198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1449551198" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 62, "end_pos": 62, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTA->NTS).", "chr_id": "12", "chr_pos": "48714502", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A62", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 261, "end_pos": 261, "sequence_org": "C", "sequence_mut": "Y", "comment": "Loss of HIV-1 Tat transactivation.", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "10329126", "url": "https://glygen.org/publication/PubMed/10329126" } ] }, { "start_pos": 517, "end_pos": 527, "sequence_org": "HHHHHNHHSHK", "sequence_mut": "AAAAANAASAKA", "comment": "In mutant 9A; impaired formation of phase-separated liquid droplets, leading to decreased ability to activate CDK9.", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "29849146", "url": "https://glygen.org/publication/PubMed/29849146" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129315" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000129315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129315" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000129315", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000129315" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000129315", "url": 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"MEGERKNNNKRWYFTREQLENSPSRRFGVDPDKELSYRQQAANLLQDMGQRLNVSQLTINTAIVYMHRFYMIQSFTQFPGNSVAPAALFLAAKVEEQPKKLEHVIKVAHTCLHPQESLPDTRSEAYLQQVQDLVILESIILQTLGFELTIDHPHTHVVKCTQLVRASKDLAQTSYFMATNSLHLTTFSLQYTPPVVACVCIHLACKWSNWEIPVSTDGKHWWEYVDATVTLELLDELTHEFLQILEKTPNRLKRIWNWRACEAAKKTKADDRGTDEKTSEQTILNMISQSSSDTTIAGLMSMSTSTTSAVPSLPVSEESSSNLTSVEMLPGKRWLSSQPSFKLEPTQGHRTSENLALTGVDHSLPQDGSNAFISQKQNSKSVPSAKVSLKEYRAKHAEELAAQKRQLENMEANVKSQYAYAAQNLLSHHDSHSSVILKMPIEGSENPERPFLEKADKTALKMRIPVAGGDKAASSKPEEIKMRIKVHAAADKHNSVEDSVTKSREHKEKHKTHPSNHHHHHNHHSHKHSHSQLPVGTGNKRPGDPKHSSQTSNLAHKTYSLSSSFSSSSSTRKRGPSEETGGAVFDHPAKIAKSTKSSSLNFSFPSLPTMGQMPGHSSDTSGLSFSQPSCKTRVPHSKLDKGPTGANGHNTTQTIDYQDTVNMLHSLLSAQGVQPTQPTAFEFVRPYSDYLNPRSGGISSRSGNTDKPRPPPLPSEPPPPLPPLPK", "length": 726, "header": "sp|O60563-1|CCNT1_HUMAN Isoform 1 of Cyclin-T1 OS=Homo sapiens OX=9606 GN=CCNT1 PE=1 SV=1 CANONICAL=O60563-1" }, "locus": { "chromosome": "12", "start_pos": 48716675, "end_pos": 48693036, "strand": "+", "evidence": [ { "database": "Ensembl 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"G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 475, "start_aa": "Ser", "end_pos": 475, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser475", "evidence": [ { "id": "O60563", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60563" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 566, "start_aa": "Ser", "end_pos": 566, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser566", "evidence": [ { "id": "O60563", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60563" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 571, "start_aa": "Thr", "end_pos": 571, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr571", "evidence": [ { "id": "O60563", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60563" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] } ], "phosphorylation": [ { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser117" }, { "start_pos": 340, "end_pos": 340, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser340" }, { "start_pos": 351, "end_pos": 351, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr351" }, { "start_pos": 388, "end_pos": 388, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser388" }, { "start_pos": 495, "end_pos": 495, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser495" }, { "start_pos": 499, "end_pos": 499, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser499" }, { "start_pos": 564, "end_pos": 564, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser564" }, { "start_pos": 577, "end_pos": 577, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60563" } ], "site_lbl": "Ser577" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Smad3-Smad4 and AP-1 complexes synergize in transcriptional activation of the c-Jun promoter by transforming growth factor beta.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Wong C, Rougier-Chapman EM, Frederick JP, Datto MB, Liberati NT, Li JM, Wang XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10022869", "url": "https://glygen.org/publication/PubMed/10022869" } ] }, { "title": "The general transcription factors IIA, IIB, IIF, and IIE are required for RNA polymerase II transcription from the human U1 small nuclear RNA promoter.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Kuhlman TC, Cho H, Reinberg D, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "10022900", "url": "https://glygen.org/publication/PubMed/10022900" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.", "journal": "Cell", "date": "1999", "authors": "Yamaguchi Y, Takagi T, Wada T, Yano K, Furuya A, Sugimoto S, Hasegawa J, Handa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "10199401", "url": "https://glygen.org/publication/PubMed/10199401" } ] }, { "title": "Cyclin T1 domains involved in complex formation with Tat and TAR RNA are critical for tat-activation.", "journal": "Journal of molecular biology", "date": "1999-04-23", "authors": "Ivanov D, Kwak Y T, Nee E, Guo J, Garc\u00eda-Mart\u00ednez L F, Gaynor R B", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" } ], "reference": [ { "type": "PubMed", "id": "10329125", "url": "https://glygen.org/publication/PubMed/10329125" } ] }, { "title": "Role of the human and murine cyclin T proteins in regulating HIV-1 tat-activation.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Kwak YT, Ivanov D, Guo J, Nee E, Gaynor RB", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" } ], "reference": [ { "type": "PubMed", "id": "10329126", "url": "https://glygen.org/publication/PubMed/10329126" } ] }, { "title": "Analysis of the effect of natural sequence variation in Tat and in cyclin T on the formation and RNA binding properties of Tat-cyclin T complexes.", "journal": "J. Virol.", "date": "1999", "authors": "Bieniasz PD, Grdina TA, Bogerd HP, Cullen BR", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" } ], "reference": [ { "type": "PubMed", "id": "10364329", "url": "https://glygen.org/publication/PubMed/10364329" } ] }, { "title": "A novel RNA polymerase II-containing complex potentiates Tat-enhanced HIV-1 transcription.", "journal": "EMBO J.", "date": "1999", "authors": "Parada CA, Roeder RG", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" } ], "reference": [ { "type": "PubMed", "id": "10393184", "url": "https://glygen.org/publication/PubMed/10393184" } ] }, { "title": "Estrogen induction of the cyclin D1 promoter: involvement of a cAMP response-like element.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sabbah M, Courilleau D, Mester J, Redeuilh G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10500157", "url": "https://glygen.org/publication/PubMed/10500157" } ] }, { "title": "Domains in the SPT5 protein that modulate its transcriptional regulatory properties.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Ivanov D, Kwak YT, Guo J, Gaynor RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-167200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167200" } ], "reference": [ { "type": "PubMed", "id": "10757782", "url": "https://glygen.org/publication/PubMed/10757782" } ] }, { "title": "Transcriptional activation of transforming growth factor alpha by estradiol: requirement for both a GC-rich site and an estrogen response element half-site.", "journal": "Journal of molecular endocrinology", "date": "2000", "authors": "Vyhlidal C, Samudio I, Kladde MP, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10828826", "url": "https://glygen.org/publication/PubMed/10828826" } ] }, { "title": "Tat modifies the activity of CDK9 to phosphorylate serine 5 of the RNA polymerase II carboxyl-terminal domain during human immunodeficiency virus type 1 transcription.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zhou M, Halanski MA, Radonovich MF, Kashanchi F, Peng J, Price DH, Brady JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-167152", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167152" } ], "reference": [ { "type": "PubMed", "id": "10866664", "url": "https://glygen.org/publication/PubMed/10866664" } ] }, { "title": "Promoter analysis and chromosomal mapping of human EBAG9 gene.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Ikeda K, Sato M, Tsutsumi O, Tsuchiya F, Tsuneizumi M, Emi M, Imoto I, Inazawa J, Muramatsu M, Inoue S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "10873660", "url": "https://glygen.org/publication/PubMed/10873660" } ] }, { "title": "Relief of two built-In autoinhibitory mechanisms in P-TEFb is required for assembly of a multicomponent transcription elongation complex at the human immunodeficiency virus type 1 promoter.", "journal": "Mol. Cell. Biol.", "date": "2000", "authors": "Fong Y W, Zhou Q", "evidence": [ { "database": "UniProtKB", "id": "O60563", "url": "https://www.uniprot.org/uniprot/O60563" } ], "reference": [ { "type": "PubMed", "id": "10913173", "url": "https://glygen.org/publication/PubMed/10913173" } ] }, { "title": "p53 and c-Jun functionally synergize in the regulation of the DNA repair gene hMSH2 in response to UV.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Scherer SJ, Maier SM, Seifert M, Hanselmann RG, Zang KD, Muller-Hermelink HK, Angel P, Welter C, Schartl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "10984493", "url": "https://glygen.org/publication/PubMed/10984493" } ] }, { "title": "Synergistic cooperation between Sp1 and Smad3/Smad4 mediates transforming growth factor beta1 stimulation of alpha 2(I)-collagen (COL1A2) transcription.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang W, Ou J, Inagaki Y, Greenwel P, Ramirez F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11007770", "url": "https://glygen.org/publication/PubMed/11007770" } ] }, { "title": "Synergistic, p160 coactivator-dependent enhancement of estrogen receptor function by CARM1 and p300.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Chen D, Huang SM, Stallcup MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11010967", "url": "https://glygen.org/publication/PubMed/11010967" } ] }, { "title": "Smad2, Smad3 and Smad4 cooperate with Sp1 to induce p15(Ink4B) transcription in response to TGF-beta.", "journal": "The EMBO journal", "date": "2000", "authors": "Feng XH, Lin X, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11013220", "url": "https://glygen.org/publication/PubMed/11013220" } ] }, { "title": "MYB oncogene amplification in hereditary BRCA1 breast cancer.", "journal": "Cancer research", "date": "2000", "authors": "Kauraniemi P, Hedenfalk I, Persson K, Duggan DJ, Tanner M, Johannsson O, Olsson H, Trent JM, Isola J, Borg A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11034064", "url": "https://glygen.org/publication/PubMed/11034064" } ] }, { "title": "PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer.", "journal": "Cancer research", "date": "2000", "authors": "Ghosh MG, Thompson DA, Weigel RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11103799", "url": "https://glygen.org/publication/PubMed/11103799" } ] }, { "title": "Cofactor dynamics and sufficiency in estrogen receptor-regulated transcription.", "journal": "Cell", "date": "2000", "authors": "Shang Y, Hu X, DiRenzo J, Lazar MA, Brown M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11136970", "url": "https://glygen.org/publication/PubMed/11136970" } ] }, { "title": "Transcriptional activation of cathepsin D gene expression by 17beta-estradiol: mechanism of aryl hydrocarbon receptor-mediated inhibition.", "journal": "Molecular and cellular endocrinology", "date": "2001", "authors": "Wang F, Samudio I, Safe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9018519", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018519" } ], "reference": [ { "type": "PubMed", "id": "11165043", "url": "https://glygen.org/publication/PubMed/11165043" } ] }, { "title": "Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11274402", "url": "https://glygen.org/publication/PubMed/11274402" } ] }, { "title": "Structural basis of transcription: RNA polymerase II at 2.8 angstrom resolution.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Cramer P, Bushnell DA, Kornberg RD", "evidence": [ { "database": "Reactome", "id": 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