{"entity":{"id":"mamld1","kind":"target","name":"MAMLD1","aka":["mastermind like domain containing 1","Mastermind-like domain-containing protein 1","CG1","F18","CXorf6"],"tldr":"MAMLD1 (Mastermind-like domain-containing protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes affected pathway 0.94, literature 0.12, genetic association 0.00, somatic mutation 0.23, animal model 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2568"},{"label":"UniProt Q13495","url":"https://www.uniprot.org/uniprotkb/Q13495/entry"},{"label":"NCBI Gene 10046","url":"https://www.ncbi.nlm.nih.gov/gene/10046"},{"label":"Ensembl ENSG00000013619","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000013619"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"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: none stated by the sources. Evidence tier \"association-only\" 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":"MAMLD1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2568","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13495","url":"https://www.uniprot.org/uniprotkb/Q13495/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000013619","url":"https://platform.opentargets.org/target/ENSG00000013619/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"hgnc":"HGNC:2568","ensembl":"ENSG00000013619","uniprot":"Q13495","entrez":"10046","biology":"Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. Location: Nucleus (UniProt). Locus Xq28 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},"route":"/targets/mamld1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}