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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.
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).
IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Malignant Tumour.
In plain words · 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.
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.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
No product in this corpus aims at SMARCD1 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
First described 1996. Earliest sequence paper UniProt cites for the protein: Wang et al, Genes Dev, 1996, "Diversity and specialization of mammalian SWI/SNF complexes". Source.
Sources: HGNC HGNC:11106 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q96GM5 (protein name, function text, keywords and locations (REST API)); IntOGen SMARCD1 (driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
Query for this target: (TITLE:"SMARCD1" OR ABSTRACT:"SMARCD1" OR TITLE:"SWI/SNF related BAF chromatin remodeling complex subunit D1" OR ABSTRACT:"SWI/SNF related BAF chromatin remodeling complex subunit D1" OR TITLE:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1" OR ABSTRACT:"SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1" OR TITLE:"BAF60A" OR ABSTRACT:"BAF60A" OR TITLE:"Rsc6p" OR ABSTRACT:"Rsc6p" OR TITLE:"CRACD1" OR ABSTRACT:"CRACD1") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SMARCD1, not a curated reading list.