SMARCE1 Gene

Name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Description	The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSMARCE1, a core component of the SWI/SNF chromatin‐remodeling complex, has emerged as a critical tumor suppressor in the central nervous system. Loss‐of‐function mutations in SMARCE1 predispose to familial clear cell meningiomas that affect both the spinal and cranial compartments. In these cases, the complete loss of SMARCE1 protein expression underlies a distinct histological subtype with clear cell features and variable penetrance, allowing its immunohistochemical detection to serve as a sensitive diagnostic biomarker and to inform surveillance strategies in affected families."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in SMARCE1 are also implicated in congenital syndromes such as Coffin–Siris syndrome, where they account for a smaller fraction of cases relative to other BAF complex components. In this developmental context, altered SMARCE1 function can contribute to a wide spectrum of neurodevelopmental and dysmorphic features—including intellectual disability and hypoplasia of digits—thereby highlighting its broader role in early embryonic differentiation and organogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond developmental syndromes and meningioma predisposition, SMARCE1 has context‐dependent functions in other diseases. In early-stage breast lesions, for instance, SMARCE1 promotes invasive progression by regulating the expression of extracellular proteases that facilitate basement membrane degradation. Furthermore, SMARCE1 influences hepatitis B virus replication—its overexpression suppresses viral DNA replication and antigen production—whereas in neuroblastoma, elevated SMARCE1 expression cooperates with oncogenic factors such as MYCN to drive tumor aggressiveness. Finally, recent evidence suggests that SMARCE1 participates in mechanotransduction by modulating alternative splicing events in response to mechanical stress."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Miriam J Smith, James O'Sullivan, Sanjeev S Bhaskar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2552"}], "href": "https://doi.org/10.1038/ng.2552"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23377182"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23377182"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Miriam J Smith, Andrew J Wallace, Chris Bennett, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pathol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/path.4427"}], "href": "https://doi.org/10.1002/path.4427"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25143307"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25143307"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "E H Gerkes, J M Fock, W F A den Dunnen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-015-0472-y"}], "href": "https://doi.org/10.1007/s10048-015-0472-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26803492"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26803492"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Miriam J Smith, Soomin Ahn, Jung-Il Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMARCE1 mutation screening in classification of clear cell meningiomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Histopathology (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/his.13135"}], "href": "https://doi.org/10.1111/his.13135"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27891692"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27891692"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Arnault Tauziede-Espariat, Béatrice Parfait, Aurore Besnard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Pathol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bpa.12524"}], "href": "https://doi.org/10.1111/bpa.12524"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28474749"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28474749"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alireza Shoakazemi, Alan Hewitt, Miriam J Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61970"}], "href": "https://doi.org/10.1002/ajmg.a.61970"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33185983"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33185983"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Philipp Sievers, Martin Sill, Christina Blume, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-020-02247-2"}], "href": "https://doi.org/10.1007/s00401-020-02247-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33319313"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33319313"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Noriko Miyake, Yoshinori Tsurusaki, Naomichi Matsumoto "}, {"type": "b", "children": [{"type": "t", "text": "Numerous BAF complex genes are mutated in Coffin-Siris syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet C Semin Med Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.c.31406"}], "href": "https://doi.org/10.1002/ajmg.c.31406"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25081545"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25081545"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Tomoki Kosho, Nobuhiko Okamoto "}, {"type": "b", "children": [{"type": "t", "text": "Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet C Semin Med Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.c.31407"}], "href": "https://doi.org/10.1002/ajmg.c.31407"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25168959"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25168959"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Yuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.37722"}], "href": "https://doi.org/10.1002/ajmg.a.37722"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27264197"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27264197"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ethan S Sokol, Yu-Xiong Feng, Dexter X Jin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMARCE1 is required for the invasive progression of in situ cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1703931114"}], "href": "https://doi.org/10.1073/pnas.1703931114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28377514"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28377514"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Yuanyuan Wang, Jingmei Cao, Shiyun Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-802 induces hepatitis B virus replication and replication through regulating SMARCE1 expression in hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-019-1999-x"}], "href": "https://doi.org/10.1038/s41419-019-1999-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31611549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31611549"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Jianguo Feng, Xichao Xu, Xin Fan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BAF57/SMARCE1 Interacting with Splicing Factor SRSF1 Regulates Mechanical Stress-Induced Alternative Splicing of Cyclin D1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes12020306"}], "href": "https://doi.org/10.3390/genes12020306"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33670012"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33670012"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Xiaosong Hu, Ruochen Liu, Jianbing Hou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMARCE1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41388-022-02428-1"}], "href": "https://doi.org/10.1038/s41388-022-02428-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35978151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35978151"}]}]}]}
Synonyms	CSS5, BAF57
Proteins	SMCE1_HUMAN
NCBI Gene ID	6605
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SMARCE1 has 7,568 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 122 datasets.

Click the + buttons to view associations for SMARCE1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SMARCE1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by SMARCE1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SMARCE1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SMARCE1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SMARCE1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SMARCE1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SMARCE1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving SMARCE1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SMARCE1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SMARCE1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SMARCE1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SMARCE1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SMARCE1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SMARCE1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SMARCE1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SMARCE1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SMARCE1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SMARCE1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SMARCE1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SMARCE1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing SMARCE1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SMARCE1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SMARCE1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing SMARCE1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SMARCE1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SMARCE1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SMARCE1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SMARCE1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving SMARCE1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SMARCE1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with SMARCE1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SMARCE1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SMARCE1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SMARCE1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SMARCE1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SMARCE1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SMARCE1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SMARCE1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SMARCE1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SMARCE1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with SMARCE1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.