Aliases for SMARCD3 Gene
- SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3 2 3 5
- BAF60C 2 3 4
- SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily D Member 3 3 4
- Mammalian Chromatin Remodeling Complex BRG1-Associated Factor 60C 2 3
- 60 KDa BRG-1/Brm-Associated Factor Subunit C 3 4
- SWI/SNF Complex 60 KDa Subunit C 2 3
External Ids for SMARCD3 Gene
Previous GeneCards Identifiers for SMARCD3 Gene
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. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for SMARCD3 Gene
SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3) is a Protein Coding gene. Diseases associated with SMARCD3 include Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin organization. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and transcription coactivator activity. An important paralog of this gene is SMARCD1.
UniProtKB/Swiss-Prot Summary for SMARCD3 Gene
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. Stimulates nuclear receptor mediated transcription. 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).