Homo sapiens Protein: SMARCC1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-31860.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | SMARCC1 | ||||||||||||||||||||||
Protein Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 | ||||||||||||||||||||||
Synonyms | BAF155; CRACC1; Rsc8; SRG3; SWI3; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000254480 | ||||||||||||||||||||||
InnateDB Gene | IDBG-31858 (SMARCC1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). May stimulate the ATPase activity of the catalytic subunit of the complex. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR- mediated transrepression of the CYP27B1 gene. 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 post-mitotic 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 post-mitotic 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). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. | ||||||||||||||||||||||
Disease Associations | |||||||||||||||||||||||
Tissue Specificity | Expressed in brain, heart, muscle, placenta, lung, liver, muscle, kidney and pancreas. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 143 experimentally validated interaction(s) in this database.
They are also associated with 25 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000953
Chromo domain/shadow IPR001005 SANT/Myb domain IPR001357 BRCT domain IPR007526 SWIRM domain IPR009057 Homeodomain-like IPR017877 Myb-like domain |
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PFAM |
PF00249
PF00533 PF12738 PF04433 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00298
SM00717 SM00292 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q92922 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q92922 | ||||||||||||||||||||||
TrEMBL | F8WE13 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 6599 | ||||||||||||||||||||||
UniGene | Hs.619293 | ||||||||||||||||||||||
RefSeq | NP_003065 | ||||||||||||||||||||||
HUGO | HGNC:11104 | ||||||||||||||||||||||
OMIM | 601732 | ||||||||||||||||||||||
CCDS | CCDS2758 | ||||||||||||||||||||||
HPRD | 03435 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC026318 AC112512 AC130472 BC039843 BC065253 BC113465 BC117213 U66615 | ||||||||||||||||||||||
GenPept | AAC50693 AAH39843 AAH65253 AAI13466 AAI17214 | ||||||||||||||||||||||