InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMARCE1

Summary

InnateDB Protein

IDBP-47849.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMARCE1

Protein Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Synonyms

BAF57;

Species

Homo sapiens

Ensembl Protein

ENSP00000323967

InnateDB Gene

IDBG-47847 (SMARCE1)

Protein Structure

UniProt Annotation

Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). 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). Required for the coactivation of estrogen responsive promoters by Swi/Snf complexes and the SRC/p160 family of histone acetyltransferases (HATs). Also specifically interacts with the CoREST corepressor resulting in repression of neuronal specific gene promoters in non-neuronal cells. 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. {ECO:0000250, ECO:0000269PubMed:12837248}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00267, ECO:0000269PubMed:12192000}.

Disease Associations

Note=Defects in SMARCE1 may be a cause of Coffin-Siris syndrome, a highly variable disease characterized by mental retardation associated with a broad spectrum of different clinical features.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 115 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.

Experimentally validated
Total	115 [view]
Protein-Protein	112 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	17 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0003682	chromatin binding
GO:0003713	transcription coactivator activity
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008080	N-acetyltransferase activity
GO:0016922	ligand-dependent nuclear receptor binding
GO:0031492	nucleosomal DNA binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0006337	nucleosome disassembly
GO:0006338	chromatin remodeling
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007399	nervous system development
GO:0008152	metabolic process
GO:0043044	ATP-dependent chromatin remodeling
GO:0045087	innate immune response (InnateDB)
GO:0045892	negative regulation of transcription, DNA-templated

Cellular Component

GO:0000228	nuclear chromosome
GO:0000790	nuclear chromatin
GO:0005634	nucleus
GO:0016514	SWI/SNF complex
GO:0017053	transcriptional repressor complex
GO:0043234	protein complex
GO:0071564	npBAF complex
GO:0071565	nBAF complex