protein
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Gene
SMARCB1
Organism
Homo sapiens(9606)
Length
385 aa
Mass
44,141 Da
SMARCB1 encodes a core component of the BAF chromatin-remodeling complex, an ATP-dependent machine that alters DNA-histone interactions to regulate gene expression and cell proliferation (UniProt: Q12824). The protein stimulates remodeling activity of SMARCA4 and is essential for proper chromatin dynamics during development and in response to cellular signals.
SMARCB1 is particularly critical in neural development, where it functions in both neural progenitor-specific (npBAF) and neuron-specific (nBAF) chromatin complexes that control the transition from stem cell proliferation to postmitotic neuronal differentiation. Mutations cause multiple disease states: rhabdoid tumor predisposition syndrome 1, an aggressive pediatric cancer; Schwannomatosis 1, characterized by multiple benign nerve sheath tumors; and Coffin-Siris syndrome 3, a congenital syndrome featuring intellectual disability, facial dysmorphism, and multi-system malformations (UniProt: Q12824).
SMARCB1 carries SFARI classification S (Syndromic) (SFARI Cat S), indicating a curated association with autism in the context of genetic syndromes. This reflects the protein's documented role in neurodevelopmental processes and the intellectual disability phenotypes observed in SMARCB1-related Coffin-Siris syndrome, though autism appears as part of broader syndromic presentations rather than as an isolated ASD phenotype.
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
Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1
Disease associations
Rhabdoid tumor predisposition syndrome 1RTPS1
A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Schwannomatosis 1SWN1
An autosomal dominant tumor predisposition syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas on cranial, spinal, and peripheral nerves, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas.
Coffin-Siris syndrome 3CSS3
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, 5:24:25 AM