{"entity":{"id":"smarcd1","kind":"target","name":"SMARCD1","aka":["SWI/SNF related BAF chromatin remodeling complex subunit D1","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1","BAF60A","Rsc6p","CRACD1"],"tldr":"SMARCD1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 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 Breast cancer.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex).\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Malignant Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11106"},{"label":"UniProt Q96GM5","url":"https://www.uniprot.org/uniprotkb/Q96GM5/entry"},{"label":"NCBI Gene 6602","url":"https://www.ncbi.nlm.nih.gov/gene/6602"},{"label":"Ensembl ENSG00000066117","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066117"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"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 2 cohorts. 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":"SMARCD1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11106","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96GM5","url":"https://www.uniprot.org/uniprotkb/Q96GM5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SMARCD1","url":"https://www.intogen.org/search?gene=SMARCD1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:11106","ensembl":"ENSG00000066117","uniprot":"Q96GM5","entrez":"6602","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). Location: Nucleus (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/smarcd1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"}]}}