SFMBT1 Gene

HGNC Family	Sterile alpha motif (SAM) domain containing (SAMD)
Name	Scm-like with four mbt domains 1
Description	This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSFMBT1 is an MBT domain‐containing chromatin reader that functions primarily as a transcriptional repressor. Early studies demonstrated that SFMBT1 localizes to the nucleus where its four tandem MBT repeats mediate direct binding to the N‑terminal tail of histone H3, thereby promoting chromatin compaction and robust transcriptional repression, consistent with properties of Polycomb group proteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its general role in silencing gene expression, SFMBT1 contributes to cell fate decisions and differentiation. During myogenesis, SFMBT1 interacts with the myogenic transcription factor MyoD and recruits several corepressor complexes—including those containing LSD1, CtBP, and HDACs—to enforce epigenetic silencing and maintain the undifferentiated state of myogenic progenitors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, SFMBT1 has been implicated in epithelial-to-mesenchymal transition, acting downstream of Snai1 by binding di- and trimethylated H3K4 and enabling LSD1-mediated demethylation of H3K4me2 at epithelial marker gene promoters."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Its role in neurodevelopment—where altered SFMBT1 expression impacts dendritic spine density—as well as functional studies in colorectal cancer highlight additional contributions to processes such as synaptic morphogenesis and cell invasive behavior."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, aberrations in SFMBT1 have been linked with several human diseases. It was identified as a novel hypertension susceptibility gene in a Han Chinese population, underscoring its potential role in cardiovascular regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In clear cell renal cell carcinoma, dysregulation of SFMBT1—controlled by prolyl hydroxylation and pVHL-mediated degradation—affects downstream targets such as SPHK1, thereby contributing to tumor growth."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " A copy number loss within intron 2 of the SFMBT1 gene has been associated with increased risk for idiopathic normal pressure hydrocephalus"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", while in psoriasis, altered regulation of SFMBT1 by miR-20a-3p has been shown to modify keratinocyte proliferation and apoptosis via the TGF‑β1/Survivin pathway."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Shumin Wu, Raymond C Trievel, Judd C Rice "}, {"type": "b", "children": [{"type": "t", "text": "Human SFMBT is a transcriptional repressor protein that selectively binds the N-terminal tail of histone H3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2007.06.025"}], "href": "https://doi.org/10.1016/j.febslet.2007.06.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17599839"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17599839"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jin Zhang, Roberto Bonasio, Francesco Strino, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SFMBT1 functions with LSD1 to regulate expression of canonical histone genes and chromatin-related factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.210963.112"}], "href": "https://doi.org/10.1101/gad.210963.112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23592795"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23592795"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shuibin Lin, Huangxuan Shen, Jian-Liang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomic and functional analyses reveal the role of chromatin reader SFMBT1 in regulating epigenetic silencing and the myogenic gene program."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.429605"}], "href": "https://doi.org/10.1074/jbc.M112.429605"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23349461"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23349461"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ming Tang, Huangxuan Shen, Yue Jin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The malignant brain tumor (MBT) domain protein SFMBT1 is an integral histone reader subunit of the LSD1 demethylase complex for chromatin association and epithelial-to-mesenchymal transition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.482349"}], "href": "https://doi.org/10.1074/jbc.M113.482349"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23928305"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23928305"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuan Yuan, Jiandong Bao, Zhishan Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multi-omics analysis to identify susceptibility genes for colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddab021"}], "href": "https://doi.org/10.1093/hmg/ddab021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33481017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33481017"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yifan Li, Changguo Ma, Shiwu Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Sci (Weinh) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/advs.202104786"}], "href": "https://doi.org/10.1002/advs.202104786"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34978167"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34978167"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hsin-Chou Yang, Yu-Jen Liang, Jaw-Wen Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes in Han Chinese with a genome-wide gene-based association study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0032907"}], "href": "https://doi.org/10.1371/journal.pone.0032907"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22479346"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22479346"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xijuan Liu, Jeremy M Simon, Haibiao Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide Screening Identifies SFMBT1 as an Oncogenic Driver in Cancer with VHL Loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2020.01.009"}], "href": "https://doi.org/10.1016/j.molcel.2020.01.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32023483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32023483"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Hidenori Sato, Yoshimi Takahashi, Luna Kimihira, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0166615"}], "href": "https://doi.org/10.1371/journal.pone.0166615"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27861535"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27861535"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ronghua Li, Meng Qiao, Xintong Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-20a-3p regulates TGF-β1/Survivin pathway to affect keratinocytes proliferation and apoptosis by targeting SFMBT1 in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Signal (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cellsig.2018.06.003"}], "href": "https://doi.org/10.1016/j.cellsig.2018.06.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29886071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29886071"}]}]}]}
Synonyms	SFMBT, HSFMBT, RU1
Proteins	SMBT1_HUMAN
NCBI Gene ID	51460
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SFMBT1 has 6,415 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 114 datasets.

Click the + buttons to view associations for SFMBT1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SFMBT1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SFMBT1 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 SFMBT1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SFMBT1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SFMBT1 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 SFMBT1 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 SFMBT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SFMBT1 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 SFMBT1 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 SFMBT1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SFMBT1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SFMBT1 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 SFMBT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SFMBT1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SFMBT1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SFMBT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SFMBT1 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 SFMBT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SFMBT1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SFMBT1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SFMBT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SFMBT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SFMBT1 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 SFMBT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SFMBT1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SFMBT1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SFMBT1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with SFMBT1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SFMBT1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SFMBT1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with SFMBT1 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 SFMBT1 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 SFMBT1 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 SFMBT1 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 SFMBT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SFMBT1 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 SFMBT1 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 SFMBT1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SFMBT1 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 SFMBT1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with SFMBT1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.