{"entity":{"id":"smc1a","kind":"target","name":"SMC1A","aka":["structural maintenance of chromosomes 1A","Structural maintenance of chromosomes protein 1A","DXS423E","KIAA0178","SB1.8","Smcb","SMC1L1"],"tldr":"SMC1A (Structural maintenance of chromosomes protein 1A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication.\n\nIntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11111","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111"},{"label":"UniProt Q14683","url":"https://www.uniprot.org/uniprotkb/Q14683/entry"},{"label":"NCBI Gene 8243","url":"https://www.ncbi.nlm.nih.gov/gene/8243"},{"label":"Ensembl ENSG00000072501","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072501"}],"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 an activating (Act) driver in 2 cohorts; UniProt keyword \"DNA repair\". 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":"SMC1A","role":["oncogene-driver","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11111","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14683","url":"https://www.uniprot.org/uniprotkb/Q14683/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SMC1A","url":"https://www.intogen.org/search?gene=SMC1A","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:11111","ensembl":"ENSG00000072501","uniprot":"Q14683","entrez":"8243","biology":"Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Location: Nucleus; Chromosome; Chromosome, centromere, kinetochore (UniProt). Locus Xp11.22 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 2 cohorts (AML)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/smc1a/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"}]}}