ASH1L Gene

HGNC Family	Chromatin-modifying enzymes, Zinc fingers
Name	ash1 (absent, small, or homeotic)-like (Drosophila)
Description	This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ASH1L is an evolutionarily conserved member of the Trithorax group of histone methyltransferases that plays multifaceted roles in gene regulation, development, and disease. Functioning primarily through the mono‐ and dimethylation of histone H3 lysine 36, ASH1L helps maintain active transcriptional states at a wide range of loci—including key homeobox (Hox) genes—to orchestrate developmental programs (2."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In the hematopoietic system, ASH1L is essential for ensuring proper stem cell quiescence, niche occupancy, and self‐renewal; its deficiency leads to reduced expression of critical Hox genes and subsequent impairment in adult hematopoietic stem cell function (a role further underscored by studies linking its loss to profound HSC depletion)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In neuronal tissues, ASH1L is recruited to promoters upon neuronal activation where its H3K36 methyltransferase activity mediates long‐term transcriptional repression of genes such as neurexin1α; aberrations in its function have been implicated in neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and Tourette syndrome."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": " In the immune compartment, ASH1L contributes to the suppression of proinflammatory cytokines by promoting the expression of regulatory factors through H3K4 methylation at specific gene promoters, thus protecting against hyperactive immune responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Furthermore, ASH1L has been linked to muscle pathology and cancer; for instance, its recruitment by noncoding RNAs in facioscapulohumeral muscular dystrophy (FSHD) contributes to the de-repression of pathogenic genes"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ", and its overexpression in anaplastic thyroid cancer sustains tumor cell proliferation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the molecular level, structural studies have revealed that ASH1L’s catalytic activity is finely regulated by conformational changes—such as the release of an autoinhibitory loop upon binding to partners like Mrg15—which modulates substrate accessibility and enzymatic function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": " Collectively, these studies underscore the central importance of ASH1L as a chromatin regulator whose precise activity is critical for ensuring normal developmental processes, proper stem cell and immune functions, and the prevention of disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}, {"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sojin An, Kwon Joo Yeo, Young Ho Jeon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.203380"}], "href": "https://doi.org/10.1074/jbc.M110.203380"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21239497"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21239497"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michelle L Brinkmeier, Krista A Geister, Morgan Jones, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Histone Methyltransferase Gene Absent, Small, or Homeotic Discs-1 Like Is Required for Normal Hox Gene Expression and Fertility in Mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Reprod (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1095/biolreprod.115.131516"}], "href": "https://doi.org/10.1095/biolreprod.115.131516"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26333994"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26333994"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Chryssa Kanellopoulou, Timothy Gilpatrick, Gokhul Kilaru, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reprogramming of Polycomb-Mediated Gene Silencing in Embryonic Stem Cells by the miR-290 Family and the Methyltransferase Ash1l."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Stem Cell Reports (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.stemcr.2015.10.001"}], "href": "https://doi.org/10.1016/j.stemcr.2015.10.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26549848"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26549848"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Morgan Jones, Jennifer Chase, Michelle Brinkmeier, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ash1l controls quiescence and self-renewal potential in hematopoietic stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI78124"}], "href": "https://doi.org/10.1172/JCI78124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25866973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25866973"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Τao Zhu, Chen Liang, Dongdong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep26597"}], "href": "https://doi.org/10.1038/srep26597"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27229316"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27229316"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Shiguo Liu, Miaomiao Tian, Fan He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in ASH1L confer susceptibility to Tourette syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41380-019-0560-8"}], "href": "https://doi.org/10.1038/s41380-019-0560-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31673123"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31673123"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Luye Qin, Jamal B Williams, Tao Tan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-021-26972-8"}], "href": "https://doi.org/10.1038/s41467-021-26972-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34782621"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34782621"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel MCA/ID syndrome with ASH1L mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38193"}], "href": "https://doi.org/10.1002/ajmg.a.38193"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28394464"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28394464"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Meng Xia, Juan Liu, Xiaohui Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Histone methyltransferase Ash1l suppresses interleukin-6 production and inflammatory autoimmune diseases by inducing the ubiquitin-editing enzyme A20."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunity (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.immuni.2013.08.016"}], "href": "https://doi.org/10.1016/j.immuni.2013.08.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24012418"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24012418"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Daphne S Cabianca, Valentina Casa, Beatrice Bodega, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2012.03.035"}], "href": "https://doi.org/10.1016/j.cell.2012.03.035"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22541069"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22541069"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Charis L Himeda, Takako I Jones, Ching-Man Virbasius, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Ther (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymthe.2018.04.019"}], "href": "https://doi.org/10.1016/j.ymthe.2018.04.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29759937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29759937"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Bin Xu, Tingting Qin, Jingcheng Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel role of ASH1L histone methyltransferase in anaplastic thyroid carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.RA120.013530"}], "href": "https://doi.org/10.1074/jbc.RA120.013530"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32398261"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32398261"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Peini Hou, Chang Huang, Chao-Pei Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural Insights into Stimulation of Ash1L's H3K36 Methyltransferase Activity through Mrg15 Binding."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Structure (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.str.2019.01.015"}], "href": "https://doi.org/10.1016/j.str.2019.01.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30827843"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30827843"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Gregory D Gregory, Christopher R Vakoc, Tanya Rozovskaia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mammalian ASH1L is a histone methyltransferase that occupies the transcribed region of active genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00993-07"}], "href": "https://doi.org/10.1128/MCB.00993-07"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17923682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17923682"}]}]}]}
Synonyms	KMT2H, ASH1L1, MRD52
Proteins	ASH1L_HUMAN
NCBI Gene ID	55870
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ASH1L has 10,386 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for ASH1L from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ASH1L 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 ASH1L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ASH1L protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ASH1L 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 ASH1L gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ASH1L 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 ASH1L 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 ASH1L gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ASH1L 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 ASH1L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ASH1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ASH1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ASH1L 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 ASH1L 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 ASH1L 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 ASH1L 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 ASH1L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ASH1L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ASH1L gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ASH1L 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 ASH1L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ASH1L gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ASH1L 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 ASH1L 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 ASH1L 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 ASH1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ASH1L 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 ASH1L 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 ASH1L gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ASH1L gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.