{"entity":{"id":"ubtf","kind":"target","name":"UBTF","aka":["upstream binding transcription factor","Nucleolar transcription factor 1","NOR-90","UBF1","UBF2"],"tldr":"UBTF (Nucleolar transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute myeloid leukaemia.","summary":"Recognises the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element and can activate Pol I promoter escape.\n\nCIViC holds 1 clinical evidence item and 2 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12511"},{"label":"UniProt P17480","url":"https://www.uniprot.org/uniprotkb/P17480/entry"},{"label":"NCBI Gene 7343","url":"https://www.ncbi.nlm.nih.gov/gene/7343"},{"label":"Ensembl ENSG00000108312","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108312"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBTF","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12511","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17480","url":"https://www.uniprot.org/uniprotkb/P17480/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBTF","url":"https://civicdb.org/features/6009","note":"1 evidence items, 2 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists UBTF among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA UBTF: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas UBTF tissue","url":"https://www.proteinatlas.org/ENSG00000108312-UBTF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108312 associations","url":"https://platform.opentargets.org/target/ENSG00000108312/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12511","ensembl":"ENSG00000108312","uniprot":"P17480","entrez":"7343","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jantzen H.M. et al, Nature, 1990, \"Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2330041/","biology":"Recognises the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element and can activate Pol I promoter escape. Location: Nucleus, nucleolus (UniProt). Locus 17q21.31 (HGNC).","whereFound":["Acute myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/ubtf/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"}]}}