{ "uniprot_canonical_ac": "O96019-1", "uniprot_ac": "O96019", "uniprot_id": "ACL6A_HUMAN", "mass": { "chemical_mass": 47461.0, "monoisotopic_mass": 47461.0 }, "refseq": { "ac": "NP_004292", "name": "actin-like protein 6A isoform 1", "summary": "This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" }, "gene_names": [ { "name": "ACTL6A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96019", "id": "O96019" }, { "name": "ACTL6; Arp4; ARPN-BETA; BAF53A; INO80K; SMARCN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292", "id": "NP_004292" }, { "name": "ACTL6A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292", "id": "NP_004292" }, { "name": "BAF53A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96019", "id": "O96019" }, { "name": "BAF53", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96019", "id": "O96019" }, { "name": "INO80K", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96019", "id": "O96019" } ], "protein_names": [ { "name": "Actin-like protein 6A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96019" }, { "name": "53 kDa BRG1-associated factor A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "Actin-related protein Baf53a", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "ArpNbeta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "BAF53A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "BRG1-associated factor 53A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "INO80 complex subunit K", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96019" }, { "name": "actin-like protein 6A isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292", "id": "NP_004292" }, { "name": "hArpN beta; BAF53; INO80 complex subunit K; actin-related protein 4; BAF complex 53 kDa subunit; actin-like protein 6A; arpNbeta; BRG1-associated factor 53A; actin-related protein Baf53a; 53 kDa BRG1-associated factor A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292", "id": "NP_004292" } ], "function": [ { "annotation": "ACTL6A deficiency induces apoptosis through impairing DNA replication and inhibiting the ATR-Chk1 signaling in glioblastoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" }, { "database": "PubMed", "id": "35182941", "url": "https://glygen.org/publication/PubMed/35182941" } ] }, { "annotation": "Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" }, { "database": "PubMed", "id": "36768349", "url": "https://glygen.org/publication/PubMed/36768349" } ] }, { "annotation": "BAF53A drives colorectal cancer development by regulating DUSP5-mediated ERK phosphorylation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" }, { "database": "PubMed", "id": "36526622", "url": "https://glygen.org/publication/PubMed/36526622" } ] }, { "annotation": "Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019#function" }, { "database": "UniProtKB", "id": "Q9Z2N8", "url": "https://www.uniprot.org/uniprot/Q9Z2N8#function" }, { "database": "PubMed", "id": "26601204", "url": "https://glygen.org/publication/PubMed/26601204" }, { "database": "PubMed", "id": "15196461", "url": "https://glygen.org/publication/PubMed/15196461" }, { "database": "PubMed", "id": "22952240", "url": "https://glygen.org/publication/PubMed/22952240" }, { "database": "PubMed", "id": "14966270", "url": "https://glygen.org/publication/PubMed/14966270" }, { "database": "PubMed", "id": "29374058", "url": "https://glygen.org/publication/PubMed/29374058" } ] }, { "annotation": "Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression.", "evidence": [ { "database": "RefSeq", "id": "NP_004292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" }, { "database": "PubMed", "id": "36631007", "url": "https://glygen.org/publication/PubMed/36631007" } ] }, { "annotation": "This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004292" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O96019", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96019" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 104, "end_pos": 104, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DHT->NHT).", "chr_id": "3", "chr_pos": "179573401", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D104", "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs769454264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769454264" }, { "id": "rs769454264", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769454264" }, { "id": "rs769454264", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769454264#frequency_tab" }, { "id": "rs769454264", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769454264" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "3", "chr_pos": "179574376", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776843849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776843849" }, { "id": "rs776843849", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776843849" }, { "id": "rs776843849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776843849#frequency_tab" }, { "id": "rs776843849", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776843849" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 129, "end_pos": 129, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "3", "chr_pos": "179574377", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O96019", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96019" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 130, "end_pos": 130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NTR->NTT).", "chr_id": "3", "chr_pos": "179574380", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R130", "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": "rs376555270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376555270" }, { "id": "rs376555270", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376555270" }, { "id": "rs376555270", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376555270" }, { "id": "rs376555270", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376555270#frequency_tab" }, { "id": "rs376555270", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376555270" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 92, "end_pos": 92, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "3", "chr_pos": "179570239", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "M92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136518", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136518" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O96019", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96019" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96019" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"Protein" ] }, { "id": "O96019-2", "url": "https://www.uniprot.org/uniprot/O96019-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSGGVYGGDEVGALVFDIGSYTVRAGYAGEDCPKVDFPTAIGMVVERDDGSTLMEIDGDKGKQGGPTYYIDTNALRVPRENMEAISPLKNGMVEDWDSFQAILDHTYKMHVKSEASLHPVLMSEAPWNTRAKREKLTELMFEHYNIPAFFLCKTAVLTAFANGRSTGLILDSGATHTTAIPVHDGYVLQQGIVKSPLAGDFITMQCRELFQEMNIELVPPYMIASKEAVREGSPANWKRKEKLPQVTRSWHNYMCNCVIQDFQASVLQVSDSTYDEQVAAQMPTVHYEFPNGYNCDFGAERLKIPEGLFDPSNVKGLSGNTMLGVSHVVTTSVGMCDIDIRPGLYGSVIVAGGNTLIQSFTDRLNRELSQKTPPSMRLKLIANNTTVERRFSSWIGGSILASLGTFQQMWISKQEYEEGGKQCVERKCP", "length": 429, "header": "sp|O96019-1|ACL6A_HUMAN Isoform 1 of Actin-like protein 6A OS=Homo sapiens OX=9606 GN=ACTL6A PE=1 SV=1 CANONICAL=O96019-1" }, "isoforms": [ { "isoform_ac": "C9JQT2-1", "url": "", "sequence": { "sequence": "MVVERDDGSTLMEIDGDKGKQGGPTYYIDTNALRVPRENMEAISPLKNGM", "length": 50, "header": "tr|C9JQT2-1|ACL6A_HUMAN Computationally mapped isoform of Actin-like protein 6A OS=Homo sapiens OX=9606 GN=ACTL6A PE=1 SV=1 CANONICAL=O96019-1" }, "locus": { "chromosome": "3", "start_pos": 179570240, "end_pos": 179570091, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490364.1", "url": "https://www.ensembl.org/id/ENST00000490364.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420153.1", "url": "https://www.ensembl.org/id/ENSP00000420153.1" } ] } }, { "isoform_ac": "H7C5S0-1", "url": "", "sequence": { "sequence": "XFSDEVGALVFDIGSYTVRAGYAGEDCPKVDFPTAIGMVVERDDGSTLMEIDGDKGKQGGPTYYIDTNALRVPRENMEAISPLKNGMVEDWDSFQAILDHTYKMHVKSEASLHPVLMSEAPWNTRAKREKLTELMFEHYNIPAFFLCKTAVLTAFIHHLLH", "length": 161, "header": "tr|H7C5S0-1|ACL6A_HUMAN Computationally mapped isoform of Actin-like protein 6A OS=Homo sapiens OX=9606 GN=ACTL6A PE=1 SV=1 CANONICAL=O96019-1" }, "locus": { "chromosome": "3", "start_pos": 179575425, "end_pos": 179569815, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487978.5", "url": 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"https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O96019", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O96019" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 129, "start_aa": "Thr", "end_pos": 129, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr129", "evidence": [ { "id": "O96019", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O96019" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "phosphorylation": [ { "start_pos": 233, "end_pos": 233, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O96019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96019" }, { "database": "phospho.ELM", "id": "O96019", "url": "http://phospho.elm.eu.org/byAccession/O96019.html" } ], "site_lbl": "Ser233" }, { "start_pos": 6, "end_pos": 6, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O96019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96019" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr6" }, { "start_pos": 86, "end_pos": 86, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O96019", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96019" } ], "site_lbl": "Ser86" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Two isoforms of a human actin-related protein show nuclear localization and mutually selective expression between brain and other tissues.", "journal": "Biosci. Biotechnol. Biochem.", "date": "1999", "authors": "Harata M, Mochizuki R, Mizuno S", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "10380635", "url": "https://glygen.org/publication/PubMed/10380635" } ] }, { "title": "Characterization of DNA recognition by the human UV-damaged DNA-binding protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Fujiwara Y, Masutani C, Mizukoshi T, Kondo J, Hanaoka F, Iwai S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "10391953", "url": "https://glygen.org/publication/PubMed/10391953" } ] }, { "title": "A new human member of the MYST family of histone acetyl transferases with high sequence similarity to Drosophila MOF.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Neal KC, Pannuti A, Smith ER, Lucchesi JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10786633", "url": "https://glygen.org/publication/PubMed/10786633" } ] }, { "title": "ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation.", "journal": "Nature", "date": "2000", "authors": "Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y, Yokoyama KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "10821277", "url": "https://glygen.org/publication/PubMed/10821277" } ] }, { "title": "Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis.", "journal": "Cell", "date": "2000", "authors": "Ikura T, Ogryzko VV, Grigoriev M, Groisman R, Wang J, Horikoshi M, Scully R, Qin J, Nakatani Y", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "10966108", "url": "https://glygen.org/publication/PubMed/10966108" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Araki M, Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J, Ohkuma Y, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "11279143", "url": "https://glygen.org/publication/PubMed/11279143" } ] }, { "title": "Methylation of histone H3 by coactivator-associated arginine methyltransferase 1.", "journal": "Biochemistry", "date": "2001", "authors": "Schurter BT, Koh SS, Chen D, Bunick GJ, Harp JM, Hanson BL, Henschen-Edman A, Mackay DR, Stallcup MR, Aswad DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11341840", "url": "https://glygen.org/publication/PubMed/11341840" } ] }, { "title": "Methylation of histone H4 at arginine 3 occurs in vivo and is mediated by the nuclear receptor coactivator PRMT1.", "journal": "Current biology : CB", "date": "2001", "authors": "Strahl BD, Briggs SD, Brame CJ, Caldwell JA, Koh SS, Ma H, Cook RG, Shabanowitz J, Hunt DF, Stallcup MR, Allis CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11448779", "url": "https://glygen.org/publication/PubMed/11448779" } ] }, { "title": "The p400 complex is an essential E1A transformation target.", "journal": "Cell", "date": "2001", "authors": "Fuchs M, Gerber J, Drapkin R, Sif S, Ikura T, Ogryzko V, Lane WS, Nakatani Y, Livingston DM", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "11509179", "url": "https://glygen.org/publication/PubMed/11509179" } ] }, { "title": "Hormone-dependent, CARM1-directed, arginine-specific methylation of histone H3 on a steroid-regulated promoter.", "journal": "Current biology : CB", "date": "2001", "authors": "Ma H, Baumann CT, Li H, Strahl BD, Rice R, Jelinek MA, Aswad DW, Allis CD, Hager GL, Stallcup MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11747826", "url": "https://glygen.org/publication/PubMed/11747826" } ] }, { "title": "Methylation at arginine 17 of histone H3 is linked to gene activation.", "journal": "EMBO reports", "date": "2002", "authors": "Bauer UM, Daujat S, Nielsen SJ, Nightingale K, Kouzarides T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11751582", "url": "https://glygen.org/publication/PubMed/11751582" } ] }, { "title": "A novel WD repeat protein component of the methylosome binds Sm proteins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Friesen WJ, Wyce A, Paushkin S, Abel L, Rappsilber J, Mann M, Dreyfuss G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "11756452", "url": "https://glygen.org/publication/PubMed/11756452" } ] }, { "title": "BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation.", "journal": "Mol. Cell. Biol.", "date": "2002", "authors": "Park Jeonghyeon, Wood Marcelo A, Cole Michael D", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "11839798", "url": "https://glygen.org/publication/PubMed/11839798" } ] }, { "title": "The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.", "journal": "Cell", "date": "2003", "authors": "Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "12732143", "url": "https://glygen.org/publication/PubMed/12732143" } ] }, { "title": "A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein.", "journal": "Genes & development", "date": "2003", "authors": "Ng JM, Vermeulen W, van der Horst GT, Bergink S, Sugasawa K, Vrieling H, Hoeijmakers JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "12815074", "url": "https://glygen.org/publication/PubMed/12815074" } ] }, { "title": "In vivo recruitment of XPC to UV-induced cyclobutane pyrimidine dimers by the DDB2 gene product.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Fitch ME, Nakajima S, Yasui A, Ford JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "12944386", "url": "https://glygen.org/publication/PubMed/12944386" } ] }, { "title": "Identification of new subunits of the multiprotein mammalian TRRAP/TIP60-containing histone acetyltransferase complex.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Cai Y, Jin J, Tomomori-Sato C, Sato S, Sorokina I, Parmely TJ, Conaway RC, Conaway JW", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "12963728", "url": "https://glygen.org/publication/PubMed/12963728" } ] }, { "title": "UV radiation-induced XPC translocation within chromatin is mediated by damaged-DNA binding protein, DDB2.", "journal": "Carcinogenesis", "date": "2004", "authors": "Wang QE, Zhu Q, Wani G, Chen J, Wani AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "14742321", "url": "https://glygen.org/publication/PubMed/14742321" } ] }, { "title": "Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans.", "journal": "Molecular and cellular biology", "date": "2004-03", "authors": "Doyon Yannick, Selleck William, Lane William S, Tan Song, C\u00f4t\u00e9 Jacques", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "14966270", "url": "https://glygen.org/publication/PubMed/14966270" } ] }, { "title": "The highly conserved and multifunctional NuA4 HAT complex.", "journal": "Current opinion in genetics & development", "date": "2004-04", "authors": "Doyon Yannick, C\u00f4t\u00e9 Jacques", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "reference": [ { "type": "PubMed", "id": "15196461", "url": "https://glygen.org/publication/PubMed/15196461" } ] }, { "title": "Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.", "journal": "Cancer research", "date": "2004", "authors": "Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Buhlmann P, Niggli FK, Schafer BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214847", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214847" } ], "reference": [ { "type": "PubMed", "id": "15313887", "url": "https://glygen.org/publication/PubMed/15313887" } ] }, { "title": "Human SWI/SNF-associated PRMT5 methylates histone H3 arginine 8 and negatively regulates expression of ST7 and NM23 tumor suppressor genes.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Pal S, Vishwanath SN, Erdjument-Bromage H, Tempst P, Sif S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "15485929", "url": "https://glygen.org/publication/PubMed/15485929" } ] }, { "title": "The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions.", "journal": "DNA repair", "date": "2005", "authors": "Moser J, Volker M, Kool H, Alekseev S, Vrieling H, Yasui A, van Zeeland AA, Mullenders LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "15811629", "url": "https://glygen.org/publication/PubMed/15811629" } ] }, { "title": "UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.", "journal": "Cell", "date": "2005", "authors": "Sugasawa K, Okuda Y, Saijo M, Nishi R, Matsuda N, Chu G, Mori T, Iwai S, Tanaka K, Tanaka K, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "15882621", "url": "https://glygen.org/publication/PubMed/15882621" } ] }, { "title": "Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Nishi R, Okuda Y, Watanabe E, Mori T, Iwai S, Masutani C, Sugasawa K, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "15964821", "url": "https://glygen.org/publication/PubMed/15964821" } ] }, { "title": "DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Wittschieben BO, Iwai S, Wood RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5696394", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5696394" } ], "reference": [ { "type": "PubMed", "id": "16223728", "url": "https://glygen.org/publication/PubMed/16223728" } ] }, { "title": "A 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"O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "RSC-type complex", "id": "GO:0016586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016586", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "brahma complex", "id": "GO:0035060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035060", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "GBAF complex", "id": "GO:0140288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140288", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 34, "go_terms": [ { "name": "regulation of DNA strand elongation", "id": "GO:0060382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060382", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of chromosome organization", "id": "GO:0033044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033044", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "neural retina development", "id": "GO:0003407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003407", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": 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"positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of DNA replication", "id": "GO:0006275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006275", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of DNA repair", "id": "GO:0006282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006282", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "regulation of double-strand break repair", "id": "GO:2000779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000779", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": "https://www.uniprot.org/uniprot/O96019" } ], "pmid": "" }, { "name": "blastocyst formation", "id": "GO:0001825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001825", "evidence": [ { "database": "UniProtKB", "id": "O96019", "url": 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