SMARCD1


Description

The SMARCD1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1) is a protein-coding gene located on chromosome 12.

SMARCD1 is a protein encoded by the SMARCD1 gene in humans. It belongs to the SWI/SNF family, known for their helicase and ATPase activities, which are believed to regulate gene transcription by modifying chromatin structure. SMARCD1 is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and shares similarities with the yeast Swp73 protein. Two different isoforms of SMARCD1 are produced from this gene. SMARCD1 has been shown to interact with the Glucocorticoid receptor.

SMARCD1 plays a role in regulating gene expression by altering chromatin structure. It is a component of SWI/SNF chromatin remodeling complexes, which use ATP to modify DNA-histone interactions within nucleosomes, leading to either activation or repression of gene transcription. SMARCD1 is found in both neural progenitor-specific (npBAF) and neuron-specific (nBAF) chromatin remodeling complexes. During neural development, npBAF complexes, which contain ACTL6A/BAF53A and PHF10/BAF45A, are replaced by nBAF complexes containing ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C, reflecting a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism. npBAF is crucial for the self-renewal and proliferation of neural stem cells, while nBAF, along with CREST, contributes to dendrite growth. SMARCD1 also influences vitamin D-mediated gene transcription and may link SWI/SNF complexes to the vitamin D receptor (VDR) heterodimer. It facilitates interactions between nuclear receptors and the BRG1/SMARCA4 chromatin-remodeling complex, which is important for gene activation. It interacts with AKIRIN2.

SMARCD1 is also known as BAF60A, CRACD1, CSS11, Rsc6p.

Associated Diseases



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