{"entity":{"id":"mysm1","kind":"target","name":"MYSM1","aka":["Myb like, SWIRM and MPN domains 1","Deubiquitinase MYSM1","KIAA1915"],"tldr":"MYSM1 (Deubiquitinase MYSM1) 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. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Metalloprotease with deubiquitinase activity that plays important regulator roles in haematopoietic stem cell function, blood cell production and immune response. Participates in the normal programming of B-cell responses to antigen after the maturation process. Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29401"},{"label":"UniProt Q5VVJ2","url":"https://www.uniprot.org/uniprotkb/Q5VVJ2/entry"},{"label":"NCBI Gene 114803","url":"https://www.ncbi.nlm.nih.gov/gene/114803"},{"label":"Ensembl ENSG00000162601","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162601"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"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":"MYSM1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29401","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VVJ2","url":"https://www.uniprot.org/uniprotkb/Q5VVJ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162601","url":"https://platform.opentargets.org/target/ENSG00000162601/associations","note":"per-cancer scores at or above 0.5: myelodysplastic syndrome 0.56 (GraphQL API, CC0)"}],"hgnc":"HGNC:29401","ensembl":"ENSG00000162601","uniprot":"Q5VVJ2","entrez":"114803","biology":"Metalloprotease with deubiquitinase activity that plays important regulator roles in haematopoietic stem cell function, blood cell production and immune response. Participates in the normal programming of B-cell responses to antigen after the maturation process. Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity. Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes. Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component. Suppresses the CGAS-STING1 signalling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains. Location: Nucleus; Cytoplasm (UniProt). Locus 1p32.1 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/mysm1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"}]}}