{ "uniprot_canonical_ac": "O95365-1", "uniprot_ac": "O95365", "uniprot_id": "ZBT7A_HUMAN", "mass": { "chemical_mass": 61439.0, "monoisotopic_mass": 61439.0 }, "refseq": { "ac": "NP_001304919", "name": "zinc finger and BTB domain-containing protein 7A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, "gene_names": [ { "name": "ZBTB7A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95365", "id": "O95365" }, { "name": "FBI-1; FBI1; LRF; MNDLFH; pokemon; TIP21; ZBTB7; ZNF857A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919", "id": "NP_001304919" }, { "name": "FBI1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95365", "id": "O95365" }, { "name": "LRF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95365", "id": "O95365" }, { "name": "ZBTB7A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919", "id": "NP_001304919" }, { "name": "ZBTB7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95365", "id": "O95365" }, { "name": "ZNF857A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95365", "id": "O95365" } ], "protein_names": [ { "name": "Zinc finger and BTB domain-containing protein 7A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95365" }, { "name": "FBI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Factor binding IST protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Factor that binds to inducer of short transcripts protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "HIV-1 1st-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Leukemia/lymphoma-related factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "POK erythroid myeloid ontogenic factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "POZ and Krueppel erythroid myeloid ontogenic factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Pokemon 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Pokemon", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "TIP21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "TTF-I-interacting peptide 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "Zinc finger protein 857A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95365" }, { "name": "zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein; lymphoma related factor; HIV-1 1st-binding protein 1; TTF-I-interacting peptide 21; factor binding IST protein 1; leukemia/lymphoma-related factor; POK erythroid myeloid ontogenic factor; pokemon 1; POZ and Krueppel erythroid myeloid ontogenic factor; factor that binds to inducer of short transcripts protein 1; zinc finger protein 857A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919", "id": "NP_001304919" }, { "name": "zinc finger and BTB domain-containing protein 7A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919", "id": "NP_001304919" } ], "function": [ { "annotation": "Found that FBI-1 binds to inverted sequence repeats downstream of the HIV-1 transcription start site", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "12750370", "url": "https://glygen.org/publication/PubMed/12750370" } ] }, { "annotation": "POZ domain of FBI1 represses transcription of ADH5.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "12004059", "url": "https://glygen.org/publication/PubMed/12004059" } ] }, { "annotation": "Post-translational regulation of proto-oncogene ZBTB7A expression by p53 status in cancer cells: HSP90-dependent stabilization vs. p53-KLHL20-ubiquitin proteasomal degradation.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "37011832", "url": "https://glygen.org/publication/PubMed/37011832" } ] }, { "annotation": "Results suggest that FBI-1 is a cellular factor that preferentially associates with active chromatin and that can specifically stimulate Tat-activated HIV-1 transcription.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "11907272", "url": "https://glygen.org/publication/PubMed/11907272" } ] }, { "annotation": "Structural basis for transcription factor ZBTB7A recognition of DNA and effects of ZBTB7A somatic mutations that occur in human acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "36626981", "url": "https://glygen.org/publication/PubMed/36626981" } ] }, { "annotation": "Targeting Pokemon is a novel strategy to suppress cancer aggressiveness of non-small cell lung cancer: Identification of Pokemon as ideal target for developing anti-NSCLC drugs.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "37182800", "url": "https://glygen.org/publication/PubMed/37182800" } ] }, { "annotation": "Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation (PubMed:14701838, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26455326, PubMed:26816381). Directly and specifically binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' and represses transcription both by regulating the organization of chromatin and through the direct recruitment of transcription factors to gene regulatory regions (PubMed:12004059, PubMed:17595526, PubMed:20812024, PubMed:25514493, PubMed:26816381). Negatively regulates SMAD4 transcriptional activity in the TGF-beta signaling pathway through these two mechanisms (PubMed:25514493). That is, recruits the chromatin regulator HDAC1 to the SMAD4-DNA complex and in parallel prevents the recruitment of the transcriptional activators CREBBP and EP300 (PubMed:25514493). Collaborates with transcription factors like RELA to modify the accessibility of gene transcription regulatory regions to secondary transcription factors (By similarity). Also directly interacts with transcription factors like SP1 to prevent their binding to DNA (PubMed:12004059). Functions as an androgen receptor/AR transcriptional corepressor by recruiting NCOR1 and NCOR2 to the androgen response elements/ARE on target genes (PubMed:20812024). Thereby, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Involved in the switch between fetal and adult globin expression during erythroid cells maturation (PubMed:26816381). Through its interaction with the NuRD complex regulates chromatin at the fetal globin genes to repress their transcription (PubMed:26816381). Specifically represses the transcription of the tumor suppressor ARF isoform from the CDKN2A gene (By similarity). Efficiently abrogates E2F1-dependent CDKN2A transactivation (By similarity). Regulates chondrogenesis through the transcriptional repression of specific genes via a mechanism that also requires histone deacetylation (By similarity). Regulates cell proliferation through the transcriptional regulation of genes involved in glycolysis (PubMed:26455326). Involved in adipogenesis through the regulation of genes involved in adipocyte differentiation (PubMed:14701838). Plays a key role in the differentiation of lymphoid progenitors into B and T lineages (By similarity). Promotes differentiation towards the B lineage by inhibiting the T-cell instructive Notch signaling pathway through the specific transcriptional repression of Notch downstream target genes (By similarity). Also regulates osteoclast differentiation (By similarity). May also play a role, independently of its transcriptional activity, in double-strand break repair via classical non-homologous end joining/cNHEJ (By similarity). Recruited to double-strand break sites on damage DNA, interacts with the DNA-dependent protein kinase complex and directly regulates its stability and activity in DNA repair (By similarity). May also modulate the splicing activity of KHDRBS1 toward BCL2L1 in a mechanism which is histone deacetylase-dependent and thereby negatively regulates the pro-apoptotic effect of KHDRBS1 (PubMed:24514149).", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365#function" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" }, { "database": "PubMed", "id": "12004059", "url": "https://glygen.org/publication/PubMed/12004059" }, { "database": "PubMed", "id": "24514149", "url": "https://glygen.org/publication/PubMed/24514149" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" }, { "database": "PubMed", "id": "25514493", "url": "https://glygen.org/publication/PubMed/25514493" }, { "database": "PubMed", "id": "20812024", "url": "https://glygen.org/publication/PubMed/20812024" }, { "database": "UniProtKB", "id": "O88939", "url": "https://www.uniprot.org/uniprot/O88939#function" }, { "database": "PubMed", "id": "14701838", "url": "https://glygen.org/publication/PubMed/14701838" }, { "database": "PubMed", "id": "26816381", "url": "https://glygen.org/publication/PubMed/26816381" }, { "database": "UniProtKB", "id": "Q9QZ48", "url": "https://www.uniprot.org/uniprot/Q9QZ48#function" } ] }, { "annotation": "Transcriptional repression of lncRNA and miRNA subsets mediated by LRF during erythropoiesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "37486375", "url": "https://glygen.org/publication/PubMed/37486375" } ] }, { "annotation": "ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" }, { "database": "PubMed", "id": "37065756", "url": "https://glygen.org/publication/PubMed/37065756" } ] } ], "disease": [ { "disease_id": "MONDO:0859231", "recommended_name": { "id": "MONDO:0859231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859231", "name": "macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin", "description": "" }, "synonyms": [ { "id": "MIM:619769", "resource": "MIM", "url": "https://www.omim.org/entry/619769", "name": "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin", "description": "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin" } ], "evidence": [ { "id": "619769", "database": "MIM", "url": "https://www.omim.org/entry/619769" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 112, "end_pos": 112, "sequence_org": "R", "sequence_mut": "C", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 14, "end_pos": 14, "sequence_org": "P", "sequence_mut": "S", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 184, "end_pos": 184, "sequence_org": "P", "sequence_mut": "S", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 22, "end_pos": 22, "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 322, "end_pos": 322, "sequence_org": "Q", "sequence_mut": "L", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 326, "end_pos": 326, "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 354, "end_pos": 354, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 357, "end_pos": 357, "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 371, "end_pos": 371, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 377, "end_pos": 377, "sequence_org": "R", "sequence_mut": "L", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 379, "end_pos": 379, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 383, "end_pos": 383, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 387, "end_pos": 387, "sequence_org": "C", "sequence_mut": "F", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 391, "end_pos": 391, "sequence_org": "I", "sequence_mut": "L", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 396, "end_pos": 396, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 399, "end_pos": 399, "sequence_org": "R", "sequence_mut": "L", "comment": "Decreased transcription repressor activity, dominant negative effect. Increased glycolysis and cell proliferation, dominant negative effect. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 402, "end_pos": 402, "sequence_org": "R", "sequence_mut": "H", "comment": "Decreased transcription repressor activity. Acts as a dominant negative. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 403, "end_pos": 403, "sequence_org": "T", "sequence_mut": "N", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 404, "end_pos": 404, "sequence_org": "H", "sequence_mut": "R", "comment": "Decreased transcription repressor activity. Acts as a dominant negative. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 406, "end_pos": 406, "sequence_org": "G", "sequence_mut": "V", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 409, "end_pos": 409, "sequence_org": "P", "sequence_mut": "S", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 412, "end_pos": 412, "sequence_org": "C", "sequence_mut": "Y", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 424, "end_pos": 424, "sequence_org": "K", "sequence_mut": "N", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 424, "end_pos": 424, "sequence_org": "K", "sequence_mut": "T", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 430, "end_pos": 430, "sequence_org": "R", "sequence_mut": "W", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 461, "end_pos": 461, "sequence_org": "T", "sequence_mut": "M", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 463, "end_pos": 463, "sequence_org": "L", "sequence_mut": "M", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 466, "end_pos": 466, "sequence_org": "Y", "sequence_mut": "D", "comment": "Decreased transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 486, "end_pos": 486, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. No effect on promoter binding. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 487, "end_pos": 487, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. No effect on promoter binding. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 49, "end_pos": 49, "sequence_org": "R", "sequence_mut": "H", "comment": "Increased proteasomal degradation. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 522, "end_pos": 522, "sequence_org": "A", "sequence_mut": "T", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 536, "end_pos": 536, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 539, "end_pos": 539, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 541, "end_pos": 541, "sequence_org": "E", "sequence_mut": "K", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 562, "end_pos": 562, "sequence_org": "G", "sequence_mut": "D", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 576, "end_pos": 576, "sequence_org": "D", "sequence_mut": "V", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 60, "end_pos": 60, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "start_pos": 61, "end_pos": 61, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of sumoylation with SUMO1. May decrease interaction with transcriptional corepressors.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "D", "sequence_mut": "E", "comment": "No effect on transcription repressor activity. No effect on nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178951" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178951" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000178951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178951" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178951" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178951", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178951" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178951", "url": 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"O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": 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Biol. Chem.", "date": "2002", "authors": "Lee DK, Suh D, Edenberg HJ, Hur MW", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "12004059", "url": "https://glygen.org/publication/PubMed/12004059" } ] }, { "title": "Flexible DNA binding of the BTB/POZ-domain protein FBI-1.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Pessler F, Hernandez N", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "12750370", "url": "https://glygen.org/publication/PubMed/12750370" } ] }, { "title": "Role of the POZ zinc finger transcription factor FBI-1 in human and murine adipogenesis.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Laudes M, Christodoulides C, Sewter C, Rochford JJ, Considine RV, Sethi JK, Vidal-Puig A, O'Rahilly S", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "14701838", "url": "https://glygen.org/publication/PubMed/14701838" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Role of the proto-oncogene Pokemon in cellular transformation and ARF repression.", "journal": "Nature", "date": "2005", "authors": "Maeda T, Hobbs RM, Merghoub T, Guernah I, Zelent A, Cordon-Cardo C, Teruya-Feldstein J, Pandolfi PP", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "15662416", "url": "https://glygen.org/publication/PubMed/15662416" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nat. Biotechnol.", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Structure of the POZ domain of human LRF, a master regulator of oncogenesis.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Tropea J.E., Waugh D.S., Schubot F.D.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "17052694", "url": "https://glygen.org/publication/PubMed/17052694" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Crystal structure of the BTB domain from the LRF/ZBTB7 transcriptional regulator.", "journal": "Protein Sci.", "date": "2007", "authors": "Chen L., Prive G.G., Stogios P.J.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "17189472", "url": "https://glygen.org/publication/PubMed/17189472" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Regulation of pokemon 1 activity by sumoylation.", "journal": "Cell. Physiol. Biochem.", "date": "2007", "authors": "Roh HE, Lee MN, Jeon BN, Choi WI, Kim YJ, Yu MY, Hur MW", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "17595526", "url": "https://glygen.org/publication/PubMed/17595526" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "FBI-1 functions as a novel AR co-repressor in prostate cancer cells.", "journal": "Cell. Mol. Life Sci.", "date": "2011", "authors": "Cui J, Yang Y, Zhang C, Hu P, Kan W, Bai X, Liu X, Song H", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "20812024", "url": "https://glygen.org/publication/PubMed/20812024" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" }, { "database": "iPTMnet", "id": "O95365", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95365" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "The transcription factor FBI-1 inhibits SAM68-mediated BCL-X alternative splicing and apoptosis.", "journal": "EMBO Rep.", "date": "2014", "authors": "Kornblihtt A.R., Munoz M.J., Sette C., Bielli P., Busa R., Botti F., Di Stasi S.M.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "24514149", "url": "https://glygen.org/publication/PubMed/24514149" } ] }, { "title": "Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2014", "authors": "Impens F, Radoshevich L, Cossart P, Ribet D", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "25114211", "url": "https://glygen.org/publication/PubMed/25114211" } ] }, { "title": "Uncovering global SUMOylation signaling networks in a site-specific manner.", "journal": "Nat. Struct. Mol. Biol.", "date": "2014", "authors": "Hendriks IA, D'Souza RC, Yang B, Verlaan-de Vries M, Mann M, Vertegaal AC", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "25218447", "url": "https://glygen.org/publication/PubMed/25218447" } ] }, { "title": "Pokemon (FBI-1) interacts with Smad4 to repress TGF-beta-induced transcriptional responses.", "journal": "Biochim. Biophys. Acta", "date": "2015", "authors": "Yang Y, Cui J, Xue F, Zhang C, Mei Z, Wang Y, Bi M, Shan D, Meredith A, Li H, Xu ZQ", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "25514493", "url": "https://glygen.org/publication/PubMed/25514493" } ] }, { "title": "LRF maintains genome integrity by regulating the non-homologous end joining pathway of DNA repair.", "journal": "Nat. Commun.", "date": "2015", "authors": "Liu XS, Chandramouly G, Rass E, Guan Y, Wang G, Hobbs RM, Rajendran A, Xie A, Shah JV, Davis AJ, Scully R, Lunardi A, Pandolfi PP", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "26446488", "url": "https://glygen.org/publication/PubMed/26446488" } ] }, { "title": "Somatic human ZBTB7A zinc finger mutations promote cancer progression.", "journal": "Oncogene", "date": "2016", "authors": "Liu XS, Liu Z, Gerarduzzi C, Choi DE, Ganapathy S, Pandolfi PP, Yuan ZM", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "26455326", "url": "https://glygen.org/publication/PubMed/26455326" } ] }, { "title": "Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin.", "journal": "Science", "date": "2016", "authors": "Fisher C., Maeda T., Nakamura Y., Wang X., Xu J., Higgs D.R., Orkin S.H., Maeda M., Zhu C., Bauer D.E., Crossley M., Masuda T., Kharchenko P.V., Funnell A.P., Canver M.C., Kurita R., Martyn G.E., Norton L.J., Sher F., Suciu M.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "26816381", "url": "https://glygen.org/publication/PubMed/26816381" } ] }, { "title": "Zbtb7a is a transducer for the control of promoter accessibility by NF-kappa B and multiple other transcription factors.", "journal": "PLoS Biol.", "date": "2018", "authors": "Ramos Pittol JM, Oruba A, Mittler G, Saccani S, van Essen D", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "29813070", "url": "https://glygen.org/publication/PubMed/29813070" } ] }, { "title": "De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.", "journal": "J. Hum. Genet.", "date": "2020", "authors": "Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "31645653", "url": "https://glygen.org/publication/PubMed/31645653" } ] }, { "title": "Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.", "journal": "Am. J. Med. Genet. A", "date": "2022", "authors": "von der Lippe C, Tveten K, Prescott TE, Holla OL, Busk OL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Levy J, Drunat S, Derive N, Haug MG, Thorstensen WM", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "34515416", "url": "https://glygen.org/publication/PubMed/34515416" } ] }, { "title": "Structural basis for transcription factor ZBTB7A recognition of DNA and effects of ZBTB7A somatic mutations that occur in human acute myeloid leukemia.", "journal": "The Journal of biological chemistry", "date": "2023-02", "authors": "Ren Ren, Horton John R, Chen Qin, Yang Jie, Liu Bin, Huang Yun, Blumenthal Robert M, Zhang Xing, Cheng Xiaodong", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "36626981", "url": "https://glygen.org/publication/PubMed/36626981" } ] }, { "title": "Post-translational regulation of proto-oncogene ZBTB7A expression by p53 status in cancer cells: HSP90-dependent stabilization vs. p53-KLHL20-ubiquitin proteasomal degradation.", "journal": "Biochimica et biophysica acta. Gene regulatory mechanisms", "date": "2023-04-01", "authors": "Choi Seo-Hyun, Cho Su-Yeon, Park Sun Young, Hur Man-Wook", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "37011832", "url": "https://glygen.org/publication/PubMed/37011832" } ] }, { "title": "ZBTB7A as a novel vulnerability in neuroendocrine prostate cancer.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Bae Song Yi, Bergom Hannah E, Day Abderrahman, Greene Joseph T, Sychev Zoi E, Larson Gabrianne, Corey Eva, Plymate Stephen R, Freedman Tanya S, Hwang Justin H, Drake Justin M", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "37065756", "url": "https://glygen.org/publication/PubMed/37065756" } ] }, { "title": "Targeting Pokemon is a novel strategy to suppress cancer aggressiveness of non-small cell lung cancer: Identification of Pokemon as ideal target for developing anti-NSCLC drugs.", "journal": "Archives of biochemistry and biophysics", "date": "2023-05-12", "authors": "Chang Hao, Sun Wenxue, Zhao Yiming, Sun Tianhao, Zhao Zhihong", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "37182800", "url": "https://glygen.org/publication/PubMed/37182800" } ] }, { "title": "Transcriptional repression of lncRNA and miRNA subsets mediated by LRF during erythropoiesis.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2023-09", "authors": "Athanasopoulou Katerina, Chondrou Vasiliki, Xiropotamos Panagiotis, Psarias Georgios, Vasilopoulos Yiannis, Georgakilas Georgios K, Sgourou Argyro", "evidence": [ { "database": "RefSeq", "id": "NP_001304919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304919" } ], "reference": [ { "type": "PubMed", "id": "37486375", "url": "https://glygen.org/publication/PubMed/37486375" } ] }, { "title": "Novel BTB/POZ domain zinc-finger protein, LRF, is a potential target of the LAZ-3/BCL-6 oncogene.", "journal": "Oncogene", "date": "1999", "authors": "Huang Q.-H., Davies J.M., Zhu J., Zelent A., Cook M., Hawe N., Leprince D., Brand N.J., Dhordain P., Kabarowski J., Moriss-Kay G.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "reference": [ { "type": "PubMed", "id": "9927193", "url": "https://glygen.org/publication/PubMed/9927193" } ] }, { "title": "FBI-1, a factor that binds to the HIV-1 inducer of short transcripts (IST), is a POZ domain protein.", "journal": "Nucleic Acids Res.", "date": "1999", "authors": "Kobayashi R., Stavropoulos P., Hernandez N., Pendergrast P.S., Colmenares S.U., Morrison D.J.", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": 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"MAGGVDGPIGIPFPDHSSDILSGLNEQRTQGLLCDVVILVEGREFPTHRSVLAACSQYFKKLFTSGAVVDQQNVYEIDFVSAEALTALMDFAYTATLTVSTANVGDILSAARLLEIPAVSHVCADLLERQILAADDVGDASQPDGAGPTDQRNLLRAKEYLEFFRSNPMNSLPPTAFPWSGFGAPDDDLDATKEAVAAAVAAVAAGDCNGLDFYGPGPPADRPPAGDGDEGDSTPGLWPERDEDAPPGGLFPPPTAPPATTQNGHYGRAGAGTGEEEAAALSEAAPEPGDSPGFLSGAAEGEDGDAADVDGLAASTLLQQMMSSVGRAGDSDEESRTDDKGVMDYYLKYFSGAHEGDVYPAWSQKGEKKIRAKAFQKCPICEKVIQGAGKLPRHIRTHTGEKPYECNICKVRFTRQDKLKVHMRKHTGEKPYLCQQCGAAFAHNYDLKNHMRVHTGLRPYQCDSCCKTFVRSDHLHRHLKKDGCNGVPSRRGRKPRVRGVPPDVPAGAGAPPGLPDAPRNGQEKHFKDEEEDEEEASPDGSGRLNVAGSGGDDGAGGPAVATAEGNFAT", "length": 569 }, "evidence": [ { "id": "45233402", "url": "http://www.informatics.jax.org/homology/45233402", "database": "MGI" }, { "id": "O95365", "url": "https://omabrowser.org/oma/group/O95365/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9QZ48-1", "protein_name": "Zinc finger and BTB domain-containing protein 7A", "gene_name": "Zbtb7a", "tax_id": 10116, "organism": "Rattus norvegicus", 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regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "regulation of DNA-binding transcription factor activity", "id": "GO:0051090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051090", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 12, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O95365", "url": "https://www.uniprot.org/uniprot/O95365" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { 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