{"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)"}],"specificitySources":[],"hgnc":"HGNC:29401","ensembl":"ENSG00000162601","uniprot":"Q5VVJ2","entrez":"114803","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11572484/","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/"}]}}