protein
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Gene
SMARCE1
Organism
Homo sapiens(9606)
Length
411 aa
Mass
46,649 Da
SMARCE1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1) is a 411-amino acid protein component of chromatin remodeling complexes that regulates transcriptional activation and repression through ATP-dependent alterations of DNA-nucleosome topology (UniProt: Q969G3). The protein is a core member of both neural progenitor-specific (npBAF) and neuron-specific (nBAF) chromatin remodeling complexes, which undergo a critical compositional switch during neural development as stem cells differentiate into postmitotic neurons. SMARCE1 also participates in estrogen-responsive gene coactivation and neuronal gene repression through interaction with corepressor complexes.
SMARCE1 is essential for neural development, particularly in regulating neural stem cell self-renewal and dendrite growth during the transition from proliferating progenitors to differentiated neurons. The protein is associated with two clinical conditions: Coffin-Siris syndrome 5, characterized by intellectual disability, coarse facial features, and variable malformations of multiple organ systems; and meningioma, a CNS neoplasm (UniProt: Q969G3).
SMARCE1 carries SFARI classification tags for syndromic autism association (SFARI Cat S), indicating involvement in syndromic forms of autism spectrum disorder. This classification reflects the intellectual disability and neurodevelopmental features observed in Coffin-Siris syndrome 5 and the protein's critical role in neural development and chromatin-mediated gene regulation.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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. 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). 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
Disease associations
MeningiomaMNGMA
A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare.
Coffin-Siris syndrome 5CSS5
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.
Sources
Last updated 5/6/2026, 5:24:24 AM