SMARCE1

Chr 17q21.2

SWI/SNF related BAF chromatin remodeling complex subunit E1

Aliases:: BAF57
MANE:: ENST00000348513.12

OMIM: 603111 ↗NCBI: 6605 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SMARCE1 · Q969G3

v62025-08-01

Predicted Aligned Error matrix for SMARCE1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.6/ 100

Low

411 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)19%
Low(50–70)14%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial tumours of the nervous system
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Tumours Syndromes of the central & peripheral Nervous system
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

familial meningioma
0.75
Coffin-Siris syndrome
0.74
Inherited cancer-predisposing syndrome
0.55
hereditary neoplastic syndrome
0.55
neurodegenerative disease
0.53
meningioma
0.52
familial multiple meningioma
0.50
Coffin-Siris syndrome 1
0.37
endometrial endometrioid adenocarcinoma
0.37
hepatobiliary neoplasm
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1

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