{"entity":{"id":"pcmtd1","kind":"target","name":"PCMTD1","aka":["protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1","Protein-L-isoaspartate O-methyltransferase domain-containing protein 1","FLJ10883"],"tldr":"PCMTD1 (Protein-L-isoaspartate O-methyltransferase domain-containing protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Specifically binds to the methyltransferase cofactor S-adenosylmethionine (AdoMet) via the N-terminal AdoMet binding motif, but does not display methyltransferase activity. May provide an alternate maintenance pathway for modified proteins by acting as a damage-specific E3 ubiquitin ligase adaptor protein.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30483","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30483"},{"label":"UniProt Q96MG8","url":"https://www.uniprot.org/uniprotkb/Q96MG8/entry"},{"label":"NCBI Gene 115294","url":"https://www.ncbi.nlm.nih.gov/gene/115294"},{"label":"Ensembl ENSG00000168300","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168300"}],"tags":["cancer-genes-wave"],"related":["intogen"],"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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" 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":"PCMTD1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30483","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30483","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96MG8","url":"https://www.uniprot.org/uniprotkb/Q96MG8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PCMTD1","url":"https://www.intogen.org/search?gene=PCMTD1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:30483","ensembl":"ENSG00000168300","uniprot":"Q96MG8","entrez":"115294","biology":"Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Specifically binds to the methyltransferase cofactor S-adenosylmethionine (AdoMet) via the N-terminal AdoMet binding motif, but does not display methyltransferase activity. May provide an alternate maintenance pathway for modified proteins by acting as a damage-specific E3 ubiquitin ligase adaptor protein. Location: Cytoplasm; Membrane (UniProt). Locus 8q11.23 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/pcmtd1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"}]}}