{ "uniprot_canonical_ac": "O60907-1", "uniprot_ac": "O60907", "uniprot_id": "TBL1X_HUMAN", "mass": { "chemical_mass": 62496.0, "monoisotopic_mass": 62496.0 }, "refseq": { "ac": "NP_001132938", "name": "F-box-like/WD repeat-containing protein TBL1X isoform a", "summary": "The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" }, "gene_names": [ { "name": "TBL1X", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60907", "id": "O60907" }, { "name": "CHNG8; EBI; SMAP55; TBL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938", "id": "NP_001132938" }, { "name": "TBL1X", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938", "id": "NP_001132938" }, { "name": "TBL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60907", "id": "O60907" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1X", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60907" }, { "name": "F-box-like/WD repeat-containing protein TBL1X isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938", "id": "NP_001132938" }, { "name": "F-box-like/WD repeat-containing protein TBL1X; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked; transducin beta like 1X-linked", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938", "id": "NP_001132938" }, { "name": "SMAP55", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60907" }, { "name": "Transducin beta-like protein 1X", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60907" }, { "name": "Transducin-beta-like protein 1, X-linked", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60907" } ], "function": [ { "annotation": "F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272).", "evidence": [ { "database": "UniProtKB", "id": "O60907", "url": "https://www.uniprot.org/uniprot/O60907#function" }, { "database": "PubMed", "id": "21240272", "url": "https://glygen.org/publication/PubMed/21240272" }, { "database": "PubMed", "id": "14980219", "url": "https://glygen.org/publication/PubMed/14980219" } ] }, { "annotation": "Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.", "evidence": [ { "database": "RefSeq", "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" }, { "database": "PubMed", "id": "36860195", "url": "https://glygen.org/publication/PubMed/36860195" } ] }, { "annotation": "Long noncoding RNA MIAT regulates TP53 ubiquitination and expedites prostate adenocarcinoma progression by recruiting TBL1X.", "evidence": [ { "database": "RefSeq", "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" }, { "database": "PubMed", "id": "37356458", "url": "https://glygen.org/publication/PubMed/37356458" } ] }, { "annotation": "TBL1X: At the crossroads of transcriptional and posttranscriptional regulation. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" }, { "database": "PubMed", "id": "36206873", "url": "https://glygen.org/publication/PubMed/36206873" } ] }, { "annotation": "The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" } ] }, { "annotation": "Transducin beta-like protein 1 controls multiple oncogenic networks in diffuse large B-cell lymphoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938" }, { "database": "PubMed", "id": "33054136", "url": "https://glygen.org/publication/PubMed/33054136" } ] } ], "disease": [ { "disease_id": "DOID:0111837", "recommended_name": { "id": "DOID:0111837", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111837", "name": "congenital nongoitrous hypothyroidism 8", "description": "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2." }, "synonyms": [ { "id": "DOID:0111837", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111837", "name": "CHNG8", "description": "" }, { "id": "MONDO:0026731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026731", "name": "hypothyroidism, congenital, nongoitrous, 8", "description": "" }, { "id": "MONDO:0026731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026731", "name": "CHNG8", "description": "" }, { "id": "MONDO:0026731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026731", "name": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8", "description": "" }, { "id": "MIM:301033", "resource": "MIM", "url": "https://www.omim.org/entry/301033", "name": "Hypothyroidism, congenital, non-goitrous, 8", "description": "Hypothyroidism, congenital, non-goitrous, 8" } ], "evidence": [ { "id": "301033", "database": "MIM", "url": "https://www.omim.org/entry/301033" } ] } ], "snv": [ { "evidence": [ { "id": "rs1601840155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601840155" }, { "id": "rs1601840155", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601840155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 160, "end_pos": 160, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "X", "chr_pos": "9688139", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768285076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768285076" }, { "id": "rs768285076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768285076" }, { "id": "rs768285076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768285076" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 169, "end_pos": 169, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "X", "chr_pos": "9688165", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T169", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374017922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374017922" }, { "id": "rs374017922", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374017922" }, { "id": "rs374017922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374017922#frequency_tab" }, { "id": "rs374017922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374017922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 187, "end_pos": 187, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "X", "chr_pos": "9688218", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P187", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374017922", "database": "dbSNP", "url": 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"", "site_lbl": "G268", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200238701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200238701" }, { "id": "rs200238701", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200238701" }, { "id": "rs200238701", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200238701" }, { "id": "rs200238701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200238701" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 299, "end_pos": 299, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTN->NTS).", "chr_id": "X", "chr_pos": "9693153", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000265", "site_lbl": "N299", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": 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"sequence": "MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK", "length": 577, "header": "sp|O60907-1|TBL1X_HUMAN Isoform 1 of F-box-like/WD repeat-containing protein TBL1X OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=3 CANONICAL=O60907-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y757-1", "url": "", "sequence": { "sequence": "MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAA", "length": 112, "header": "tr|A0A2R8Y757-1|TBL1X_HUMAN Computationally mapped isoform of F-box-like/WD repeat-containing protein TBL1X OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=1 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9688148, "end_pos": 9654265, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647172.1", "url": "https://www.ensembl.org/id/ENST00000647172.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495835.1", "url": "https://www.ensembl.org/id/ENSP00000495835.1" } ] } }, { "isoform_ac": "A0A2R8YFW3-1", "url": "", "sequence": { "sequence": "MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVAYNALQL", "length": 526, "header": "tr|A0A2R8YFW3-1|A0A2R8YFW3_HUMAN Computationally mapped isoform of Transducin beta like 1 X-linked OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=1 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9740805, "end_pos": 9654265, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647060.1", "url": "https://www.ensembl.org/id/ENST00000647060.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495467.1", "url": "https://www.ensembl.org/id/ENSP00000495467.1" } ] } }, { "isoform_ac": "A0A804HJZ5-1", "url": "", "sequence": { "sequence": "MPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK", "length": 439, "header": "tr|A0A804HJZ5-1|A0A804HJZ5_HUMAN Computationally mapped isoform of Transducin beta like 1 X-linked OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=1 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9716243, "end_pos": 9688074, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683056.1", "url": "https://www.ensembl.org/id/ENST00000683056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507708.1", "url": "https://www.ensembl.org/id/ENSP00000507708.1" } ] } }, { "isoform_ac": "C9J5F9-1", "url": "", "sequence": { "sequence": "MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTF", "length": 79, "header": "tr|C9J5F9-1|C9J5F9_HUMAN Computationally mapped isoform of Transducin beta like 1 X-linked OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=8 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9684068, "end_pos": 9653587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452824.5", "url": "https://www.ensembl.org/id/ENST00000452824.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397878.1", "url": "https://www.ensembl.org/id/ENSP00000397878.1" } ] } }, { "isoform_ac": "C9JCW3-1", "url": "", "sequence": { "sequence": "MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLV", "length": 44, "header": "tr|C9JCW3-1|C9JCW3_HUMAN Computationally mapped isoform of Transducin beta like 1 X-linked OS=Homo sapiens OX=9606 GN=TBL1X PE=4 SV=8 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9684116, "end_pos": 9654265, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422314.5", "url": "https://www.ensembl.org/id/ENST00000422314.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415508.1", "url": "https://www.ensembl.org/id/ENSP00000415508.1" } ] } }, { "isoform_ac": "O60907-1", "url": "", "sequence": { "sequence": "MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK", "length": 577, "header": "sp|O60907-1|TBL1X_HUMAN Isoform 1 of F-box-like/WD repeat-containing protein TBL1X OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=3 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9716243, "end_pos": 9653587, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646640.1", "url": "https://www.ensembl.org/id/ENST00000646640.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495556.1", "url": "https://www.ensembl.org/id/ENSP00000495556.1" } ] } }, { "isoform_ac": "O60907-2", "url": "", "sequence": { "sequence": "MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK", "length": 526, "header": "sp|O60907-2|TBL1X_HUMAN Isoform 2 of F-box-like/WD repeat-containing protein TBL1X OS=Homo sapiens OX=9606 GN=TBL1X PE=1 SV=3 CANONICAL=O60907-1" }, "locus": { "chromosome": "X", "start_pos": 9716243, "end_pos": 9654265, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380961.5", "url": "https://www.ensembl.org/id/ENST00000380961.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000370348.1", "url": "https://www.ensembl.org/id/ENSP00000370348.1" } ] } } ], "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": 160, "start_aa": "Ser", "end_pos": 160, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser160", "evidence": [ { "id": "O60907", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60907" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "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": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 169, "start_aa": "Thr", "end_pos": 169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "O60907", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60907" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60907", "url": "https://www.uniprot.org/uniprot/O60907" } ], "site_lbl": "Ser183" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "p300 interacts with the N- and C-terminal part of PPARgamma2 in a ligand-independent and -dependent manner, respectively.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gelman L, Zhou G, Fajas L, Raspe E, Fruchart JC, Auwerx J", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "10075656", "url": "https://glygen.org/publication/PubMed/10075656" } ] }, { "title": "Molecular cloning and characterization of the human CLOCK gene: expression in the suprachiasmatic nuclei.", "journal": "Genomics", "date": "1999", "authors": "Steeves TD, King DP, Zhao Y, Sangoram AM, Du F, Bowcock AM, Moore RY, Takahashi JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10198158", "url": "https://glygen.org/publication/PubMed/10198158" } ] }, { "title": "A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain.", "journal": "Nature", "date": "1999", "authors": "De Strooper B, Annaert W, Cupers P, Saftig P, Craessaerts K, Mumm JS, Schroeter EH, Schrijvers V, Wolfe MS, Ray WJ, Goate A, Kopan R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2644606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2644606" } ], "reference": [ { "type": "PubMed", "id": "10206645", "url": "https://glygen.org/publication/PubMed/10206645" } ] }, { "title": "X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.", "journal": "Am. J. Hum. Genet.", "date": "1999", "authors": "Bassi M T, Ramesar R S, Caciotti B, Winship I M, De Grandi A, Riboni M, Townes P L, Beighton P, Ballabio A, Borsani G", "evidence": [ { "database": "UniProtKB", "id": "O60907", "url": "https://www.uniprot.org/uniprot/O60907" } ], "reference": [ { "type": "PubMed", "id": "10330347", "url": "https://glygen.org/publication/PubMed/10330347" } ] }, { "title": "Kinetics of hemin distribution in plasma reveals its role in lipoprotein oxidation.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Miller YI, Shaklai N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "10381560", "url": "https://glygen.org/publication/PubMed/10381560" } ] }, { "title": "Identification of conserved cis-elements and transcription factors required for sterol-regulated transcription of stearoyl-CoA desaturase 1 and 2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "10400691", "url": "https://glygen.org/publication/PubMed/10400691" } ] }, { "title": "Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1.", "journal": "Cell", "date": "1999", "authors": "Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10412986", "url": "https://glygen.org/publication/PubMed/10412986" } ] }, { "title": "PPARgamma activation induces the expression of the adipocyte fatty acid binding protein gene in human monocytes.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Pelton PD, Zhou L, Demarest KT, Burris TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-381340", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381340" } ], "reference": [ { "type": "PubMed", "id": "10425206", "url": "https://glygen.org/publication/PubMed/10425206" } ] }, { "title": "Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation.", "journal": "Genes & development", "date": "1999", "authors": "Zhang Y, Ng HH, Erdjument-Bromage H, Tempst P, Bird A, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10444591", "url": "https://glygen.org/publication/PubMed/10444591" } ] }, { "title": "CoREST: a functional corepressor required for regulation of neural-specific gene expression.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Andres ME, Burger C, Peral-Rubio MJ, Battaglioli E, Anderson ME, Grimes J, Dallman J, Ballas N, Mandel G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214815", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214815" } ], "reference": [ { "type": "PubMed", "id": "10449787", "url": "https://glygen.org/publication/PubMed/10449787" } ] }, { "title": "Cell culture conditions determine apolipoprotein CIII secretion and regulation by fibrates in human hepatoma HepG2 cells.", "journal": "Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology", "date": "1999", "authors": "Clavey V, Copin C, Mariotte MC, Bauge E, Chinetti G, Fruchart J, Fruchart JC, Dallongeville J, Staels B", "evidence": [ { "database": "Reactome", "id": "R-HSA-400206", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400206" } ], "reference": [ { "type": "PubMed", "id": "10494028", "url": "https://glygen.org/publication/PubMed/10494028" } ] }, { "title": "Peroxisome proliferator-activated receptors: nuclear control of metabolism.", "journal": "Endocrine reviews", "date": "1999", "authors": "Desvergne B, Wahli W", "evidence": [ { "database": "Reactome", "id": "R-HSA-400206", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400206" } ], "reference": [ { "type": "PubMed", "id": "10529898", "url": "https://glygen.org/publication/PubMed/10529898" } ] }, { "title": "Light-independent role of CRY1 and CRY2 in the mammalian circadian clock.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Griffin EA Jr, Staknis D, Weitz CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10531061", "url": "https://glygen.org/publication/PubMed/10531061" } ] }, { "title": "Cloning and mRNA tissue distribution of human PPARgamma coactivator-1.", "journal": "International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity", "date": "1999", "authors": "Larrouy D, Vidal H, Andreelli F, Laville M, Langin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10643692", "url": "https://glygen.org/publication/PubMed/10643692" } ] }, { "title": "SKIP, a CBF1-associated protein, interacts with the ankyrin repeat domain of NotchIC To facilitate NotchIC function.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zhou S, Fujimuro M, Hsieh JJ, Chen L, Miyamoto A, Weinmaster G, Hayward SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2122947", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2122947" } ], "reference": [ { "type": "PubMed", "id": "10713164", "url": "https://glygen.org/publication/PubMed/10713164" } ] }, { "title": "A tissue-specific coactivator of steroid receptors, identified in a functional genetic screen.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Knutti D, Kaul A, Kralli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10713165", "url": "https://glygen.org/publication/PubMed/10713165" } ] }, { "title": "Cloning and characterization of a novel human class I histone deacetylase that functions as a transcription repressor.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hu E, Chen Z, Fredrickson T, Zhu Y, Kirkpatrick R, Zhang GF, Johanson K, Sung CM, Liu R, Winkler J", "evidence": [ { "database": "Reactome", "id": 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