SMARCD1

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene.

SMARCD1

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 (PubMed:8804307, PubMed:29374058).
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). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).
Has a strong influence on vitamin D-mediated transcriptional activity from an enhancer vitamin D receptor element (VDRE). May be a link between mammalian SWI-SNF-like chromatin remodeling complexes and the vitamin D receptor (VDR) heterodimer (PubMed:14698202).
Mediates critical interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex for transactivation (PubMed:12917342).
Interacts with AKIRIN2 (By similarity).

Biological Process cellular response to fatty acidIEA:Ensembl
Biological Process chromatin remodelingManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process epigenetic maintenance of chromatin in transcription-competent conformationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of cell differentiation1 PublicationIC:ComplexPortal
Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process nucleosome disassemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process positive regulation of cell differentiation1 PublicationIC:ComplexPortal
Biological Process positive regulation of cell population proliferation1 PublicationIC:ComplexPortal
Biological Process positive regulation of double-strand break repair2 PublicationsIC:ComplexPortal
Biological Process positive regulation of myoblast differentiation2 PublicationsIC:ComplexPortal
Biological Process positive regulation of stem cell population maintenance2 PublicationsIC:ComplexPortal
Biological Process positive regulation of T cell differentiation1 PublicationIC:ComplexPortal
Biological Process regulation of G0 to G1 transition1 PublicationIC:ComplexPortal
Biological Process regulation of G1/S transition of mitotic cell cycle1 PublicationIC:ComplexPortal
Biological Process regulation of mitotic metaphase/anaphase transition2 PublicationsIC:ComplexPortal
Biological Process regulation of nucleotide-excision repair1 PublicationIC:ComplexPortal
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Coffin-Siris syndrome 11 (CSS11):
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.