MYSM1 Gene

HGNC Family	SANT/Myb domain containing
Name	Myb-like, SWIRM and MPN domains 1
Description	Enables deubiquitinase activity; histone binding activity; and transcription coactivator activity. Involved in chromatin remodeling; positive regulation of transcription by RNA polymerase II; and regulation of hemopoiesis. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMYSM1 is a chromatin‐binding deubiquitinase that specifically removes a single ubiquitin moiety from histone H2A, thereby modulating transcriptional activation. It functions by coordinating the removal of the ubiquitin mark with histone acetylation and destabilizing the binding of linker histone H1 to nucleosomes, a process that is further refined via interactions with transcriptional coregulators. Structural investigations have revealed that MYSM1 harbors a SWIRM domain with a helix–turn–helix–related fold and a SANT domain that can bind DNA, supporting its unique function as a transcription regulator. In addition, MYSM1 dysfunction or deficiency has been linked to impaired hematopoiesis and lymphocyte development in humans."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn cancer settings, MYSM1 exhibits complex roles that vary according to tumor type. For example, in colorectal cancer, MYSM1 is overexpressed in tumors compared with normal mucosa and correlates with advanced tumor status, increased invasion, and poor patient survival, making it a potential prognostic biomarker. Conversely, in castration-resistant prostate cancer, reduced MYSM1 levels have been associated with enhanced cell proliferation, diminished senescence, and increased tumorigenic potential through deregulation of androgen receptor signaling and activation of the Akt pathway."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond transcriptional regulation and oncogenesis, MYSM1 plays critical roles in immune modulation and genome integrity maintenance. In innate immunity, it is induced upon viral or intracellular DNA stimuli and interacts with STING by removing K63-linked ubiquitin chains, thereby dampening inflammatory signaling. In adaptive immunity, MYSM1 governs B cell functions by recruiting transcription factors such as c-Myc to activate microRNAs (e.g. miR-150) that in turn modulate key targets involved in B cell proliferation, with implications for autoimmune disorders such as systemic lupus erythematosus. Additionally, through its localization to DNA damage sites and interactions with proteins involved in DNA replication and repair, MYSM1 safeguards genomic stability—a function underscored by mouse models in which loss of its deubiquitinase activity recapitulates hematopoietic defects and immunodeficiency observed in human patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ping Zhu, Wenlai Zhou, Jianxun Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2007.07.024"}], "href": "https://doi.org/10.1016/j.molcel.2007.07.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17707232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17707232"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tangui Le Guen, Fabien Touzot, Isabelle André-Schmutz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Allergy Clin Immunol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jaci.2015.06.008"}], "href": "https://doi.org/10.1016/j.jaci.2015.06.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26220525"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26220525"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Misao Yoneyama, Naoya Tochio, Takashi Umehara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and functional differences of SWIRM domain subtypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2007.03.027"}], "href": "https://doi.org/10.1016/j.jmb.2007.03.027"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17428495"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17428495"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ehsan Bahrami, Maximilian Witzel, Tomas Racek, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Allergy Clin Immunol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jaci.2016.10.053"}], "href": "https://doi.org/10.1016/j.jaci.2016.10.053"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28115216"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28115216"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yongmin Li, Jingwen Li, He Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of MYSM1 is associated with tumor progression in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0177235"}], "href": "https://doi.org/10.1371/journal.pone.0177235"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28498834"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28498834"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Xu Chen, Wei Wang, Yufang Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYSM1 inhibits human colorectal cancer tumorigenesis by activating miR-200 family members/CDH1 and blocking PI3K/AKT signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-021-02106-2"}], "href": "https://doi.org/10.1186/s13046-021-02106-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34706761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34706761"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jinbo Sun, Xiangnan Hu, Yongheng Gao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYSM1-AR complex-mediated repression of Akt/c-Raf/GSK-3β signaling impedes castration-resistant prostate cancer growth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.102482"}], "href": "https://doi.org/10.18632/aging.102482"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31761786"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31761786"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xiao-Xia Jiang, Yu Liu, Hong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYSM1/miR-150/FLT3 inhibits B1a cell proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.11738"}], "href": "https://doi.org/10.18632/oncotarget.11738"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27590507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27590507"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Carsten Kroeger, Reinhild Roesler, Sebastian Wiese, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of Deubiquitinase 2A-DUB/MYSM1 with DNA Repair and Replication Factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms21113762"}], "href": "https://doi.org/10.3390/ijms21113762"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32466590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32466590"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Mingfu Tian, Weiyong Liu, Qi Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYSM1 Represses Innate Immunity and Autoimmunity through Suppressing the cGAS-STING Pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2020.108297"}], "href": "https://doi.org/10.1016/j.celrep.2020.108297"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33086059"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33086059"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Yue Liang, Garvit Bhatt, Lin Tze Tung, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deubiquitinase catalytic activity of MYSM1 is essential in vivo for hematopoiesis and immune cell development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-023-27486-7"}], "href": "https://doi.org/10.1038/s41598-023-27486-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36611064"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36611064"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Brendan Mathias, David O'Leary, Nermina Saucier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Allergy Clin Immunol (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jaci.2023.12.001"}], "href": "https://doi.org/10.1016/j.jaci.2023.12.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38065233"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38065233"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Kai-Li Zhong, Xiao-Hui Huang, Yu-Han Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Deubiquitinase MYSM1 Regulates Differentiation of Human B Cells to Plasma Cells]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhongguo Shi Yan Xue Ye Xue Za Zhi (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.19746/j.cnki.issn.1009-2137.2019.05.042"}], "href": "https://doi.org/10.19746/j.cnki.issn.1009-2137.2019.05.042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31607324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31607324"}]}]}]}
Synonyms	2A-DUB, 2ADUB, BMFS4
Proteins	MYSM1_HUMAN
NCBI Gene ID	114803
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MYSM1 has 5,183 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 108 datasets.

Click the + buttons to view associations for MYSM1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MYSM1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MYSM1 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 MYSM1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MYSM1 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 MYSM1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MYSM1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MYSM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MYSM1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing MYSM1 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 MYSM1 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 MYSM1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MYSM1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MYSM1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MYSM1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with MYSM1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MYSM1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 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 MYSM1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MYSM1 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 MYSM1 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 MYSM1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MYSM1 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 MYSM1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with MYSM1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing MYSM1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of MYSM1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of MYSM1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.