| DOT Name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 (SMARCD3)
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| Synonyms |
60 kDa BRG-1/Brm-associated factor subunit C; BRG1-associated factor 60C; BAF60C |
| Gene Name |
SMARCD3
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| Related Disease |
- Plasma cell myeloma ( )
- Triple negative breast cancer ( )
- Al amyloidosis ( )
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| UniProt ID |
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| 3D Structure |
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| Pfam ID |
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| Sequence |
MAADEVAGGARKATKSKLFEFLVHGVRPGMPSGARMPHQGAPMGPPGSPYMGSPAVRPGL
APAGMEPARKRAAPPPGQSQAQSQGQPVPTAPARSRSAKRRKMADKILPQRIRELVPESQ
AYMDLLAFERKLDQTIMRKRVDIQEALKRPMKQKRKLRLYISNTFNPAKPDAEDSDGSIA
SWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKDLYGPDNHLVEWHRTPTTQETDGFQV
KRPGDLSVRCTLLLMLDYQPPQFKLDPRLARLLGLHTQSRSAIVQALWQYVKTNRLQDSH
DKEYINGDKYFQQIFDCPRLKFSEIPQRLTALLLPPDPIVINHVISVDPSDQKKTACYDI
DVEVEEPLKGQMSSFLLSTANQQEISALDSKIHETIESINQLKIQRDFMLSFSRDPKGYV
QDLLRSQSRDLKVMTDVAGNPEEERRAEFYHQPWSQEAVSRYFYCKIQQRRQELEQSLVV
RNT
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| Function |
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.
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| Tissue Specificity |
Isoform 2 and isoform 1 are expressed in brain, heart, kidney, placenta, prostate, salivary gland, spleen, testis, thyroid, trachea and uterus. Isoform 1 is also expressed in skeletal muscle and adipose tissue.
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| KEGG Pathway |
- ATP-dependent chromatin remodeling (hsa03082 )
- Thermogenesis (hsa04714 )
- Hepatocellular carcinoma (hsa05225 )
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| Reactome Pathway |
- BMAL1 (R-HSA-1368108 )
- PPARA activates gene expression (R-HSA-1989781 )
- Transcriptional activation of mitochondrial biogenesis (R-HSA-2151201 )
- Activation of gene expression by SREBF (SREBP) (R-HSA-2426168 )
- RMTs methylate histone arginines (R-HSA-3214858 )
- Transcriptional regulation of white adipocyte differentiation (R-HSA-381340 )
- Regulation of lipid metabolism by PPARalpha (R-HSA-400206 )
- Circadian Clock (R-HSA-400253 )
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known (R-HSA-8939243 )
- Cytoprotection by HMOX1 (R-HSA-9707564 )
- Heme signaling (R-HSA-9707616 )
- RORA activates gene expression (R-HSA-1368082 )
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