{ "uniprot_canonical_ac": "O75531-1", "uniprot_ac": "O75531", "uniprot_id": "BAF_HUMAN", "mass": { "chemical_mass": 10059.0, "monoisotopic_mass": 10059.0 }, "refseq": { "ac": "NP_001137457", "name": "barrier-to-autointegration factor", "summary": "The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" }, "gene_names": [ { "name": "BANF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75531", "id": "O75531" }, { "name": "BAF; BCRP1; D14S1460; NGPS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457", "id": "NP_001137457" }, { "name": "BAF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75531", "id": "O75531" }, { "name": "BANF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457", "id": "NP_001137457" }, { "name": "BCRG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75531", "id": "O75531" } ], "protein_names": [ { "name": "Barrier-to-autointegration factor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75531" }, { "name": "Breakpoint cluster region protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75531" }, { "name": "barrier-to-autointegration factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457", "id": "NP_001137457" }, { "name": "breakpoint cluster region protein 1; barrier to autointegration factor 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457", "id": "NP_001137457" } ], "function": [ { "annotation": "(Microbial infection) Exploited by retroviruses for inhibiting self-destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome (PubMed:9465049, PubMed:11005805, PubMed:16680152). EMD and BAF are cooperative cofactors of HIV-1 infection (PubMed:16680152). Association of EMD with the viral DNA requires the presence of BAF and viral integrase (PubMed:16680152). The association of viral DNA with chromatin requires the presence of BAF and EMD (PubMed:16680152).", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531#function" }, { "database": "PubMed", "id": "16680152", "url": "https://glygen.org/publication/PubMed/16680152" }, { "database": "PubMed", "id": "9465049", "url": "https://glygen.org/publication/PubMed/9465049" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "annotation": "Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" }, { "database": "PubMed", "id": "36746947", "url": "https://glygen.org/publication/PubMed/36746947" } ] }, { "annotation": "Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" }, { "database": "PubMed", "id": "36519846", "url": "https://glygen.org/publication/PubMed/36519846" } ] }, { "annotation": "Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubMed:18005698, PubMed:25991860, PubMed:28841419, PubMed:31796734, PubMed:32792394). Contains two non-specific double-stranded DNA (dsDNA)-binding sites which promote DNA cross-bridging (PubMed:9465049). Plays a key role in nuclear membrane reformation at the end of mitosis by driving formation of a single nucleus in a spindle-independent manner (PubMed:28841419). Transiently cross-bridges anaphase chromosomes via its ability to bridge distant DNA sites, leading to the formation of a dense chromatin network at the chromosome ensemble surface that limits membranes to the surface (PubMed:28841419). Also acts as a negative regulator of innate immune activation by restricting CGAS activity toward self-DNA upon acute loss of nuclear membrane integrity (PubMed:32792394). Outcompetes CGAS for DNA-binding, thereby preventing CGAS activation and subsequent damaging autoinflammatory responses (PubMed:32792394). Also involved in DNA damage response: interacts with PARP1 in response to oxidative stress, thereby inhibiting the ADP-ribosyltransferase activity of PARP1 (PubMed:31796734). Involved in the recognition of exogenous dsDNA in the cytosol: associates with exogenous dsDNA immediately after its appearance in the cytosol at endosome breakdown and is required to avoid autophagy (PubMed:25991860). In case of poxvirus infection, has an antiviral activity by blocking viral DNA replication (PubMed:18005698).", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531#function" }, { "database": "PubMed", "id": "18005698", "url": "https://glygen.org/publication/PubMed/18005698" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "31796734", "url": "https://glygen.org/publication/PubMed/31796734" }, { "database": "PubMed", "id": "28841419", "url": "https://glygen.org/publication/PubMed/28841419" }, { "database": "PubMed", "id": "11792822", "url": "https://glygen.org/publication/PubMed/11792822" }, { "database": "PubMed", "id": "9465049", "url": "https://glygen.org/publication/PubMed/9465049" }, { "database": "PubMed", "id": "10908652", "url": "https://glygen.org/publication/PubMed/10908652" }, { "database": "PubMed", "id": "25991860", "url": "https://glygen.org/publication/PubMed/25991860" }, { "database": "PubMed", "id": "32792394", "url": "https://glygen.org/publication/PubMed/32792394" } ] }, { "annotation": "RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" }, { "database": "PubMed", "id": "38129539", "url": "https://glygen.org/publication/PubMed/38129539" } ] }, { "annotation": "The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" }, { "database": "PubMed", "id": "36039758", "url": "https://glygen.org/publication/PubMed/36039758" } ] }, { "annotation": "The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" } ] } ], "disease": [ { "disease_id": "DOID:0081334", "recommended_name": { "id": "DOID:0081334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081334", "name": "Nestor-Guillermo progeria syndrome", "description": "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age." }, "synonyms": [ { "id": "DOID:0081334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081334", "name": "Progeria syndrome, childhood-onset, with osteolysis", "description": "" }, { "id": "MONDO:0013523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013523", "name": "Nestor-Guillermo progeria syndrome", "description": "" }, { "id": "MONDO:0013523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013523", "name": "NGPS", "description": "" }, { "id": "MONDO:0013523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013523", "name": "Nestor-Guillermo progeria syndrome", "description": "" }, { "id": "MONDO:0013523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013523", "name": "PSCOO", "description": "" }, { "id": "MONDO:0013523", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013523", "name": "progeria syndrome, childhood-onset, with osteolysis", "description": "" }, { "id": "MIM:614008", "resource": "MIM", "url": "https://www.omim.org/entry/614008", "name": "Nestor-Guillermo progeria syndrome", "description": "Nestor-Guillermo progeria syndrome" } ], "evidence": [ { "id": "614008", "database": "MIM", "url": "https://www.omim.org/entry/614008" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 14, "end_pos": 14, "sequence_org": "P", "sequence_mut": "A", "comment": "No effect on LEMD3/MAN1 and enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 18, "end_pos": 18, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 25, "end_pos": 25, "sequence_org": "G", "sequence_mut": "E", "comment": "Complete loss of dsDNA, EMD, histone H1/H3 and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 25, "end_pos": 25, "sequence_org": "G", "sequence_mut": "Q", "comment": "Complete loss of EMD binding and reduces dsDNA binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 26, "end_pos": 26, "sequence_org": "I", "sequence_mut": "A", "comment": "Reduces histone H1/H3 and LEMD3/MAN1 binding. Fails to promote HIV-1 genome integration.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 26, "end_pos": 26, "sequence_org": "I", "sequence_mut": "K", "comment": "Fails to promote HIV-1 genome integration.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "G", "sequence_mut": "E", "comment": "Fails to bind dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" } ] }, { "start_pos": 27, "end_pos": 27, "sequence_org": "G", "sequence_mut": "Q", "comment": "Reduces binding to dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" } ] }, { "start_pos": 29, "end_pos": 29, "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 2, "end_pos": 3, "sequence_org": "TT", "sequence_mut": "AA", "comment": "No effect on the initial rate of phosphorylation but a second slow phase of phosphorylation is absent.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" } ] }, { "start_pos": 2, "end_pos": 4, "sequence_org": "TTS", "sequence_mut": "AAA", "comment": "95% nuclear localization. Loss of BAF phosphorylation and ability to suppress vaccinia virus DNA replication.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" }, { "database": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "start_pos": 2, "end_pos": 4, "sequence_org": "TTS", "sequence_mut": "DDD", "comment": "85% cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "start_pos": 32, "end_pos": 32, "sequence_org": "K", "sequence_mut": "E", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "K", "sequence_mut": "E", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 37, "end_pos": 37, "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 37, "end_pos": 37, "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 41, "end_pos": 41, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on histone H1/H3 and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 41, "end_pos": 41, "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 46, "end_pos": 46, "sequence_org": "L", "sequence_mut": "E", "comment": "Complete loss of dsDNA, histone H1/H3 and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 47, "end_pos": 47, "sequence_org": "G", "sequence_mut": "E", "comment": "Abolishes homodimerization, preventing ability to cross-bridge DNA. Abolished ability to mediate nuclear membrane reformation at the end of mitosis. Abolished ability to outcompete CGAS for DNA-binding, leading to innate immune activation. Complete loss of EMD, histone H1/H3 and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "28841419", "url": "https://glygen.org/publication/PubMed/28841419" }, { "database": "PubMed", "id": "32792394", "url": "https://glygen.org/publication/PubMed/32792394" } ] }, { "start_pos": 4, "end_pos": 4, "sequence_org": "S", "sequence_mut": "A", "comment": "Delayed phosphorylation with a 10-fold decrease in the initial phosphorylation rate. 71% loss of binding to lamin A.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" }, { "database": "PubMed", "id": "16371512", "url": "https://glygen.org/publication/PubMed/16371512" } ] }, { "start_pos": 4, "end_pos": 4, "sequence_org": "S", "sequence_mut": "D", "comment": "75% cytoplasmic localization.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "start_pos": 4, "end_pos": 4, "sequence_org": "S", "sequence_mut": "E", "comment": "Complete loss of phosphorylation and mislocalization of EMD in nucleus.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16371512", "url": "https://glygen.org/publication/PubMed/16371512" } ] }, { "start_pos": 50, "end_pos": 50, "sequence_org": "L", "sequence_mut": "A", "comment": "Reduces LEMD3/MAN1 binding. No effect on Histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 50, "end_pos": 50, "sequence_org": "L", "sequence_mut": "K", "comment": "Fails to promote HIV-1 genome integration.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 51, "end_pos": 51, "sequence_org": "V", "sequence_mut": "E", "comment": "Complete loss of EMD, and histone H1/H3 binding. Reduces dsDNA and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on LEMD3/MAN1 binding. Enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 53, "end_pos": 53, "sequence_org": "K", "sequence_mut": "E", "comment": "Complete loss of EMD binding. Reduces LEMD3/MAN1 binding. Enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 54, "end_pos": 54, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduces LEMD3/MAN1 binding. No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 54, "end_pos": 54, "sequence_org": "K", "sequence_mut": "E", "comment": "Reduces binding to dsDNA.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 58, "end_pos": 58, "sequence_org": "L", "sequence_mut": "R", "comment": "Abolishes interaction with LEM domain-containing proteins without affecting homodimerization and DNA-binding. Does not affect its involvement in nuclear membrane reformation at the end of mitosis. Does not affect ability to outcompete CGAS for DNA-binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "28841419", "url": "https://glygen.org/publication/PubMed/28841419" }, { "database": "PubMed", "id": "32792394", "url": "https://glygen.org/publication/PubMed/32792394" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "R", "sequence_mut": "E", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "W", "sequence_mut": "A", "comment": "Complete loss of LEMD3/MAN1 binding. Enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 64, "end_pos": 64, "sequence_org": "K", "sequence_mut": "E", "comment": "Enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 6, "end_pos": 6, "sequence_org": "K", "sequence_mut": "A", "comment": "Complete loss of LEMD3/MAN1 and histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 6, "end_pos": 6, "sequence_org": "K", "sequence_mut": "E", "comment": "Complete loss of dsDNA and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 75, "end_pos": 75, "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces binding to dsDNA. No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "12163470", "url": "https://glygen.org/publication/PubMed/12163470" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 80, "end_pos": 80, "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on histone H1/H3 and LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" }, { "database": "PubMed", "id": "11005805", "url": "https://glygen.org/publication/PubMed/11005805" } ] }, { "start_pos": 82, "end_pos": 82, "sequence_org": "R", "sequence_mut": "E", "comment": "No effect on histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 8, "end_pos": 8, "sequence_org": "R", "sequence_mut": "A", "comment": "Enhances histone H1/H3 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 8, "end_pos": 8, "sequence_org": "R", "sequence_mut": "E", "comment": "Complete loss of LEMD3/MAN1 binding.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" }, { "database": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "start_pos": 9, "end_pos": 9, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduces binding to dsDNA, LEMD3/MAN1 and histone H1/H3. 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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 disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "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 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"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 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "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": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75531", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75531" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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Virol.", "date": "2003", "authors": "Lin Chou-Wen, Engelman Alan", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "12663813", "url": "https://glygen.org/publication/PubMed/12663813" } ] }, { "title": "The cytidine deaminase CEM15 induces hypermutation in newly synthesized HIV-1 DNA.", "journal": "Nature", "date": "2003", "authors": "Zhang H, Yang B, Pomerantz RJ, Zhang C, Arunachalam SC, Gao L", "evidence": [ { "database": "Reactome", "id": "R-HSA-180689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180689" } ], "reference": [ { "type": "PubMed", "id": "12808465", "url": "https://glygen.org/publication/PubMed/12808465" } ] }, { "title": "Barrier-to-autointegration factor BAF binds p55 Gag and matrix and is a host component of human immunodeficiency virus type 1 virions.", "journal": "J. Virol.", "date": "2003", "authors": "Mansharamani Malini, Graham David R M, Monie Daphne, Lee Kenneth K, Hildreth James E K, Siliciano Robert F, Wilson Katherine L", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "14645565", "url": "https://glygen.org/publication/PubMed/14645565" } ] }, { "title": "Single-strand specificity of APOBEC3G accounts for minus-strand deamination of the HIV genome.", "journal": "Nature structural & molecular biology", "date": "2004", "authors": "Yu Q, Konig R, Pillai S, Chiles K, Kearney M, Palmer S, Richman D, Coffin JM, Landau NR", "evidence": [ { "database": "Reactome", "id": "R-HSA-180689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180689" } ], "reference": [ { "type": "PubMed", "id": "15098018", "url": "https://glygen.org/publication/PubMed/15098018" } ] }, { "title": "BAF: roles in chromatin, nuclear structure and retrovirus integration.", "journal": "Trends Cell Biol.", "date": "2004", "authors": "Segura-Totten Miriam, Wilson Katherine L", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "15130582", "url": "https://glygen.org/publication/PubMed/15130582" } ] }, { "title": "APOBEC3G incorporation into human immunodeficiency virus type 1 particles.", "journal": "Journal of virology", "date": "2004", "authors": "Zennou V, Perez-Caballero D, Gottlinger H, Bieniasz PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-180689", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180689" } ], "reference": [ { "type": "PubMed", "id": "15479846", "url": "https://glygen.org/publication/PubMed/15479846" } ] }, { "title": "LAP2alpha and BAF transiently localize to telomeres and specific regions on chromatin during nuclear assembly.", "journal": "Journal of cell science", "date": "2004", "authors": "Dechat T, Gajewski A, Korbei B, Gerlich D, Daigle N, Haraguchi T, Furukawa K, Ellenberg J, Foisner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "15546916", "url": "https://glygen.org/publication/PubMed/15546916" } ] }, { "title": "Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Mansharamani M, Wilson KL", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "15681850", "url": "https://glygen.org/publication/PubMed/15681850" } ] }, { "title": "Importin-alpha promotes passage through the nuclear pore complex of human immunodeficiency virus type 1 Vpr.", "journal": "Journal of virology", "date": "2005", "authors": "Kamata M, Nitahara-Kasahara Y, Miyamoto Y, Yoneda Y, Aida Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-180910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180910" } ], "reference": [ { "type": "PubMed", "id": "15731250", "url": "https://glygen.org/publication/PubMed/15731250" } ] }, { "title": "Genome-wide analysis of retroviral DNA integration.", "journal": "Nature reviews. Microbiology", "date": "2005", "authors": "Bushman F, Lewinski M, Ciuffi A, Barr S, Leipzig J, Hannenhalli S, Hoffmann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "16175173", "url": "https://glygen.org/publication/PubMed/16175173" } ] }, { "title": "Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Montes de Oca R, Lee KK, Wilson KL", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "16203725", "url": "https://glygen.org/publication/PubMed/16203725" } ] }, { "title": "Retroviral DNA integration--mechanism and consequences.", "journal": "Advances in genetics", "date": "2005", "authors": "Lewinski MK, Bushman FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "16291214", "url": "https://glygen.org/publication/PubMed/16291214" } ] }, { "title": "Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF.", "journal": "Exp. Cell Res.", "date": "2006", "authors": "Tifft Kathryn E, Segura-Totten Miriam, Lee Kenneth K, Wilson Katherine L", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "16337940", "url": "https://glygen.org/publication/PubMed/16337940" } ] }, { "title": "LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins.", "journal": "Journal of cell science", "date": "2005", "authors": "Brachner A, Reipert S, Foisner R, Gotzmann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "16339967", "url": "https://glygen.org/publication/PubMed/16339967" } ] }, { "title": "Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Bengtsson L, Wilson KL", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" }, { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "16371512", "url": "https://glygen.org/publication/PubMed/16371512" } ] }, { "title": "The vaccinia-related kinases phosphorylate the N' terminus of BAF, regulating its interaction with DNA and its retention in the nucleus.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Nichols RJ, Wiebe MS, Traktman P", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" }, { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" } ] }, { "title": "The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.", "journal": "Nature", "date": "2006-06-01", "authors": "Jacque Jean-Marc, Stevenson Mario", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "16680152", "url": "https://glygen.org/publication/PubMed/16680152" } ] }, { "title": "The subcellular localization of vaccinia-related kinase-2 (VRK2) isoforms determines their different effect on p53 stability in tumour cell lines.", "journal": "The FEBS journal", "date": "2006", "authors": "Blanco S, Klimcakova L, Vega FM, Lazo PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "16704422", "url": "https://glygen.org/publication/PubMed/16704422" } ] }, { "title": "Caenorhabditis elegans BAF-1 and its kinase VRK-1 participate directly in post-mitotic nuclear envelope assembly.", "journal": "The EMBO journal", "date": "2007", "authors": "Gorjanacz M, Klerkx EP, Galy V, Santarella R, Lopez-Iglesias C, Askjaer P, Mattaj IW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "17170708", "url": "https://glygen.org/publication/PubMed/17170708" } ] }, { "title": "Poxviral B1 kinase overcomes barrier to autointegration factor, a host defense against virus replication.", "journal": "Cell host & microbe", "date": "2007", "authors": "Wiebe MS, Traktman P", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "18005698", "url": "https://glygen.org/publication/PubMed/18005698" } ] }, { "title": "Live cell imaging and electron microscopy reveal dynamic processes of BAF-directed nuclear envelope assembly.", "journal": "Journal of cell science", "date": "2008", "authors": "Haraguchi T, Kojidani T, Koujin T, Shimi T, Osakada H, Mori C, Yamamoto A, Hiraoka Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "18628300", "url": "https://glygen.org/publication/PubMed/18628300" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Recruitment of functionally distinct membrane proteins to chromatin mediates nuclear envelope formation in vivo.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Anderson DJ, Vargas JD, Hsiao JP, Hetzer MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "19620630", "url": "https://glygen.org/publication/PubMed/19620630" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Functional disruption of the moloney murine leukemia virus preintegration complex by vaccinia-related kinases.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Suzuki Y, Ogawa K, Koyanagi Y, Suzuki Y", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "20511217", "url": "https://glygen.org/publication/PubMed/20511217" } ] }, { "title": "Requirement for lamin B receptor and its regulation by importin {beta} and phosphorylation in nuclear envelope assembly during mitotic exit.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lu X, Shi Y, Lu Q, Ma Y, Luo J, Wang Q, Ji J, Jiang Q, Zhang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "20576617", "url": "https://glygen.org/publication/PubMed/20576617" } ] }, { "title": "Live-cell imaging RNAi screen identifies PP2A-B55alpha and importin-beta1 as key mitotic exit regulators in human cells.", "journal": "Nature cell biology", "date": "2010", "authors": "Schmitz MH, Held M, Janssens V, Hutchins JR, Hudecz O, Ivanova E, Goris J, Trinkle-Mulcahy L, Lamond AI, Poser I, Hyman AA, Mechtler K, Peters JM, Gerlich DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "20711181", "url": "https://glygen.org/publication/PubMed/20711181" } ] }, { "title": "Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.", "journal": "American journal of human genetics", "date": "2011", "authors": "Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadinanos J, Fraile JM, Ordonez GR, Puente DA, Gutierrez-Fernandez A, Fanjul-Fernandez M, Levy N, Freije JM, Lopez-Otin C", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "21549337", "url": "https://glygen.org/publication/PubMed/21549337" } ] }, { "title": "Retroviral DNA integration directed by HIV integration protein in vitro.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Bushman FD, Fujiwara T, Craigie R", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "2171144", "url": "https://glygen.org/publication/PubMed/2171144" } ] }, { "title": "Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Tseng LC, Chen RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "21795390", "url": "https://glygen.org/publication/PubMed/21795390" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75531", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75531" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo.", "journal": "J. Cell Sci.", "date": "2012", "authors": "Brachner A, Braun J, Ghodgaonkar M, Castor D, Zlopasa L, Ehrlich V, Jiricny J, Gotzmann J, Knasmuller S, Foisner R", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "22399800", "url": "https://glygen.org/publication/PubMed/22399800" } ] }, { "title": "Coordination of kinase and phosphatase activities by Lem4 enables nuclear envelope reassembly during mitosis.", "journal": "Cell", "date": "2012", "authors": "Asencio C, Davidson IF, Santarella-Mellwig R, Ly-Hartig TB, Mall M, Wallenfang MR, Mattaj IW, Gorjanacz M", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "22770216", "url": "https://glygen.org/publication/PubMed/22770216" } ] }, { "title": "Dephosphorylation of barrier-to-autointegration factor by protein phosphatase 4 and its role in cell mitosis.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Zhuang X, Semenova E, Maric D, Craigie R", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "24265311", "url": "https://glygen.org/publication/PubMed/24265311" } ] }, { "title": "Depletion of the protein kinase VRK1 disrupts nuclear envelope morphology and leads to BAF retention on mitotic chromosomes.", "journal": "Molecular biology of the cell", "date": "2014", "authors": "Molitor TP, Traktman P", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "24430874", "url": "https://glygen.org/publication/PubMed/24430874" } ] }, { "title": "Cell- and virus-mediated regulation of the barrier-to-autointegration factor's phosphorylation state controls its DNA binding, dimerization, subcellular localization, and antipoxviral activity.", "journal": "Journal of virology", "date": "2014", "authors": "Jamin A, Wicklund A, Wiebe MS", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "title": "Barrier to auto integration factor becomes dephosphorylated during HSV-1 Infection and Can Act as a host defense by impairing viral DNA replication and gene expression.", "journal": "PloS one", "date": "2014", "authors": "Jamin A, Thunuguntla P, Wicklund A, Jones C, Wiebe MS", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "24945635", "url": "https://glygen.org/publication/PubMed/24945635" } ] }, { "title": "Retroviral integration: structure of the initial covalent product and its precursor, and a role for the viral IN protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Brown PO, Bowerman B, Varmus HE, Bishop JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "2539592", "url": "https://glygen.org/publication/PubMed/2539592" } ] }, { "title": "BAF is a cytosolic DNA sensor that leads to exogenous DNA avoiding autophagy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2015-06-02", "authors": "Kobayashi Shouhei, Koujin Takako, Kojidani Tomoko, Osakada Hiroko, Mori Chie, Hiraoka Yasushi, Haraguchi Tokuko", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "25991860", "url": "https://glygen.org/publication/PubMed/25991860" } ] }, { "title": "SIRT2 regulates nuclear envelope reassembly through ANKLE2 deacetylation.", "journal": "Journal of cell science", "date": "2016", "authors": "Kaufmann T, Kukolj E, Brachner A, Beltzung E, Bruno M, Kostrhon S, Opravil S, Hudecz O, Mechtler K, Warren G, Slade D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2995383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2995383" } ], "reference": [ { "type": "PubMed", "id": "27875273", "url": "https://glygen.org/publication/PubMed/27875273" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75531", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75531" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "DNA Cross-Bridging Shapes a Single Nucleus from a Set of Mitotic Chromosomes.", "journal": "Cell", "date": "2017", "authors": "Samwer M, Schneider MWG, Hoefler R, Schmalhorst PS, Jude JG, Zuber J, Gerlich DW", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "28841419", "url": "https://glygen.org/publication/PubMed/28841419" } ] }, { "title": "Correct integration of retroviral DNA in vitro.", "journal": "Cell", "date": "1987", "authors": "Brown PO, Bowerman B, Varmus HE, Bishop JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "3032450", "url": "https://glygen.org/publication/PubMed/3032450" } ] }, { "title": "Inhibition of PP2A activity by H2O2 during mitosis disrupts nuclear envelope reassembly and alters nuclear shape.", "journal": "Experimental & molecular medicine", "date": "2019", "authors": "Ahn JH, Cho MG, Sohn S, Lee JH", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "31164634", "url": "https://glygen.org/publication/PubMed/31164634" } ] }, { "title": "Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage.", "journal": "Nature communications", "date": "2019", "authors": "Bolderson E, Burgess JT, Li J, Gandhi NS, Boucher D, Croft LV, Beard S, Plowman JJ, Suraweera A, Adams MN, Naqi A, Zhang SD, Sinclair DA, O'Byrne KJ, Richard DJ", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "31796734", "url": "https://glygen.org/publication/PubMed/31796734" } ] }, { "title": "LEM2 phase separation promotes ESCRT-mediated nuclear envelope reformation.", "journal": "Nature", "date": "2020", "authors": "von Appen A, LaJoie D, Johnson IE, Trnka MJ, Pick SM, Burlingame AL, Ullman KS, Frost A", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "32494070", "url": "https://glygen.org/publication/PubMed/32494070" } ] }, { "title": "BAF restricts cGAS on nuclear DNA to prevent innate immune activation.", "journal": "Science (New York, N.Y.)", "date": "2020", "authors": "Guey B, Wischnewski M, Decout A, Makasheva K, Kaynak M, Sakar MS, Fierz B, Ablasser A", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "32792394", "url": "https://glygen.org/publication/PubMed/32792394" } ] }, { "title": "Di-phosphorylated BAF shows altered structural dynamics and binding to DNA, but interacts with its nuclear envelope partners.", "journal": "Nucleic acids research", "date": "2021-04-19", "authors": "Marcelot Agathe, Petitalot Ambre, Ropars Virginie, Le Du Marie-H\u00e9l\u00e8ne, Samson Camille, Dubois Stevens, Hoffmann Guillaume, Miron Simona, Cuniasse Philippe, Marquez Jose Antonio, Thai Robert, Theillet Fran\u00e7ois-Xavier, Zinn-Justin Sophie", "evidence": [ { "database": "iPTMnet", "id": "O75531", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75531" } ], "reference": [ { "type": "PubMed", "id": "33744941", "url": "https://glygen.org/publication/PubMed/33744941" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75531", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75531" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor-Guillermo progeria syndrome cells.", "journal": "Nucleic acids research", "date": "2022-09-09", "authors": "Janssen Anne, Marcelot Agathe, Breusegem Sophia, Legrand Pierre, Zinn-Justin Sophie, Larrieu Delphine", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" } ], "reference": [ { "type": "PubMed", "id": "36039758", "url": "https://glygen.org/publication/PubMed/36039758" } ] }, { "title": "Hepatitis B Virus X Protein Inhibits the Expression of Barrier To Autointegration factor1 via Upregulating miR-203 Expression in Hepatic Cells.", "journal": "Microbiology spectrum", "date": "2022-12-15", "authors": "Mishra Amit Kumar, Hossain Md Musa, Sata Teja Naveen, Yadav Ajay K, Zadran Shahidullah, Sah Amrendra Kumar, Nayak Baibaswata, Shalimar , Venugopal Senthil Kumar", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" } ], "reference": [ { "type": "PubMed", "id": "36519846", "url": "https://glygen.org/publication/PubMed/36519846" } ] }, { "title": "Barrier-to-autointegration factor 1 promotes gammaherpesvirus reactivation from latency.", "journal": "Nature communications", "date": "2023-02-06", "authors": "Broussard Grant, Ni Guoxin, Zhang Zhigang, Li Qian, Cano Patricio, Dittmer Dirk P, Damania Blossom", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" } ], "reference": [ { "type": "PubMed", "id": "36746947", "url": "https://glygen.org/publication/PubMed/36746947" } ] }, { "title": "RNA polymerase II promoter-proximal pausing promotes BAF chromatin binding and remodeling.", "journal": "Nature genetics", "date": "2024-01", "authors": "Chick Brent Y, Hargreaves Diana C", "evidence": [ { "database": "RefSeq", "id": "NP_001137457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137457" } ], "reference": [ { "type": "PubMed", "id": "38129539", "url": "https://glygen.org/publication/PubMed/38129539" } ] }, { "title": "Protection of retroviral DNA from autointegration: involvement of a cellular factor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Lee MS, Craigie R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "7937898", "url": "https://glygen.org/publication/PubMed/7937898" } ] }, { "title": "HIV cDNA integration: molecular biology and inhibitor development.", "journal": "AIDS (London, England)", "date": "1996", "authors": "Farnet CM, Bushman FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "8883604", "url": "https://glygen.org/publication/PubMed/8883604" } ] }, { "title": "HIV-1 cDNA integration: requirement of HMG I(Y) protein for function of preintegration complexes in vitro.", "journal": "Cell", "date": "1997", "authors": "Farnet CM, Bushman FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "9038339", "url": "https://glygen.org/publication/PubMed/9038339" } ] }, { "title": "Human immunodeficiency virus type 1 preintegration complexes: studies of organization and composition.", "journal": "Journal of virology", "date": "1997", "authors": "Miller MD, Farnet CM, Bushman FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "9188609", "url": "https://glygen.org/publication/PubMed/9188609" } ] }, { "title": "HIV-1 Vpr interacts with the nuclear transport pathway to promote macrophage infection.", "journal": "Genes & development", "date": "1998", "authors": "Vodicka MA, Koepp DM, Silver PA, Emerman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-180910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180910" } ], "reference": [ { "type": "PubMed", "id": "9436978", "url": "https://glygen.org/publication/PubMed/9436978" } ] }, { "title": "A previously unidentified host protein protects retroviral DNA from autointegration.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Lee MS, Craigie R", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "Reactome", "id": "R-HSA-2980766", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2980766" } ], "reference": [ { "type": "PubMed", "id": "9465049", "url": "https://glygen.org/publication/PubMed/9465049" } ] }, { "title": "Viral protein R regulates docking of the HIV-1 preintegration complex to the nuclear pore complex.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Popov S, Rexach M, Ratner L, Blobel G, Bukrinsky M", "evidence": [ { "database": "Reactome", "id": "R-HSA-180910", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180910" } ], "reference": [ { "type": "PubMed", "id": "9582382", "url": "https://glygen.org/publication/PubMed/9582382" } ] }, { "title": "Genomic and functional map of the chromosome 14 t(12;14) breakpoint cluster region in uterine leiomyoma.", "journal": "Genomics", "date": "1998", "authors": "Lynch R A, Piper M, Bankier A, Bhugra B, Surti U, Liu J, Buckler A, Dear P H, Menon A G", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "9740667", "url": "https://glygen.org/publication/PubMed/9740667" } ] }, { "title": "Solution structure of the cellular factor BAF responsible for protecting retroviral DNA from autointegration.", "journal": "Nat. Struct. Biol.", "date": "1998", "authors": "Cai M, Huang Y, Zheng R, Wei SQ, Ghirlando R, Lee MS, Craigie R, Gronenborn AM, Clore GM", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "reference": [ { "type": "PubMed", "id": "9783751", "url": "https://glygen.org/publication/PubMed/9783751" } ] }, { "title": "The barrier-to-autointegration protein is a host factor for HIV type 1 integration.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Chen H, Engelman A", "evidence": [ { "database": "Reactome", "id": "R-HSA-162592", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162592" } ], "reference": [ { "type": "PubMed", "id": "9860958", "url": "https://glygen.org/publication/PubMed/9860958" } ] } ], "pathway": [ { "id": "hsa:8815", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8815", "resource": "KEGG Pathway" }, { "id": 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"https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "mitotic nuclear membrane reassembly", "id": "GO:0007084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007084", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "negative regulation of protein ADP-ribosylation", "id": "GO:0010836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010836", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "negative regulation of innate immune response", "id": "GO:0045824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045824", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "DNA integration", "id": "GO:0015074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015074", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "negative regulation of type I interferon production", "id": "GO:0032480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032480", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" }, { "name": "negative regulation of cGAS/STING signaling pathway", "id": "GO:0160049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160049", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "(Microbial infection) Phosphorylated at the N-terminus by vaccinia virus (VacV) B1 kinase, leading to BANF1 relocalization to the cytoplasm, loss of dimerization and impaired DNA binding activity (PubMed:24600006, PubMed:16495336). Hyperphosphorylation is linked to the loss of ability to suppress vaccinia virus replication (PubMed:24600006).", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" }, { "database": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "annotation": "(Microbial infection) Phosphorylated by poxvirus B1 kinase (VPK1) on serine and threonine residues, leading to BANF1 relocalization to the cytoplasm, loss of dimerization and impaired DNA binding activity.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "18005698", "url": "https://glygen.org/publication/PubMed/18005698" }, { "database": "PubMed", "id": "24600006", "url": "https://glygen.org/publication/PubMed/24600006" } ] }, { "annotation": "Ser-4 is the major site of phosphorylation as compared to Thr-2 and Thr-3. Phosphorylation on Thr-2; Thr-3 and Ser-4 disrupts its ability to bind DNA and reduces its ability to bind LEM domain-containing proteins. Non phosphorylated BAF seems to enhance binding between EMD and LMNA. Dephosphorylated by protein phosphatase 2A (PP2A) following interaction with ANKLE2/LEM4 during mitotic exit, leading to mitotic nuclear envelope reassembly.", "evidence": [ { "database": "UniProtKB", "id": "O75531", "url": "https://www.uniprot.org/uniprot/O75531" }, { "database": "PubMed", "id": "22770216", "url": "https://glygen.org/publication/PubMed/22770216" }, { "database": "PubMed", "id": "16495336", "url": "https://glygen.org/publication/PubMed/16495336" }, { "database": "PubMed", "id": "16371512", "url": "https://glygen.org/publication/PubMed/16371512" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 2, 3, 4, 22 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 72 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }