{"entity":{"id":"dtx1","kind":"target","name":"DTX1","aka":["deltex E3 ubiquitin ligase 1","E3 ubiquitin-protein ligase DTX1","hDx-1","RNF140"],"tldr":"DTX1 (E3 ubiquitin-protein ligase DTX1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma and Chronic lymphocytic leukaemia.","summary":"E3 ubiquitin-protein ligase that mediates ubiquitination and proteasomal degradation of MEKK1, thereby modulating signalling pathways involved in cell fate determination. Regulates the Notch signalling pathway, acting predominantly as a positive regulator but functioning as a context-dependent negative regulator in specific developmental or cellular settings. Mediates the antineural activity of Notch signalling, likely by inhibiting transcriptional activation mediated by MATCH1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3060","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3060"},{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry"},{"label":"NCBI Gene 1840","url":"https://www.ncbi.nlm.nih.gov/gene/1840"},{"label":"Ensembl ENSG00000135144","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135144"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["dlbcl","cll"],"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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; 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":"DTX1","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3060","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3060","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DTX1","url":"https://civicdb.org/features/1559","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DTX1","url":"https://www.intogen.org/search?gene=DTX1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DTX1: RNA tissue enhanced (adipose tissue 9 nTPM, lymphoid tissue 12 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DTX1","url":"https://civicdb.org/features/1559","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DTX1","url":"https://www.intogen.org/search?gene=DTX1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DTX1 tissue","url":"https://www.proteinatlas.org/ENSG00000135144-DTX1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135144 associations","url":"https://platform.opentargets.org/target/ENSG00000135144/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3060","ensembl":"ENSG00000135144","uniprot":"Q86Y01","entrez":"1840","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsuno et al, Nat. Genet, 1998, \"Human deltex is a conserved regulator of Notch signalling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9590294/","biology":"E3 ubiquitin-protein ligase that mediates ubiquitination and proteasomal degradation of MEKK1, thereby modulating signalling pathways involved in cell fate determination. Regulates the Notch signalling pathway, acting predominantly as a positive regulator but functioning as a context-dependent negative regulator in specific developmental or cellular settings. Mediates the antineural activity of Notch signalling, likely by inhibiting transcriptional activation mediated by MATCH1. Negatively regulates Notch signalling by controlling the activity of PIP4K2C, a lipid kinase that promotes recycling of Notch receptors from RAB4A-positive endosomes to the cell surface. Participates in several developmental and immune processes, including neurogenesis, lymphogenesis, and myogenesis. Influences lymphocyte differentiation by promoting B-cell development at the expense of T-cell development, suggesting functional antagonism of NOTCH1 in this context. Location: Cytoplasm; Nucleus; Endosome (UniProt). Locus 12q24.13 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/dtx1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"cll","kind":"cancer","name":"Chronic lymphocytic leukaemia","route":"/cancers/cll/"},{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"}]}}