MYO1A Gene

HGNC Family	Myosins (MYH, MYO)
Name	myosin IA
Description	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMYO1A, a member of the unconventional myosin I family, functions as an actin‐based motor that is exquisitely sensitive to mechanical tension. Under very low (piconewton scale) forces, MYO1A prolongs its attachment to actin by a dramatic decrease in detachment rate—thereby transitioning to a high duty‐ratio state that allows it to serve as a molecular force sensor. In polarized epithelial cells, MYO1A is enriched in the brush border where its tail domain mediates specific membrane binding and rapid turnover, ensuring proper apical targeting and maintenance of microvillar architecture. Notably, mutations affecting conserved residues can disrupt its mechanochemical cycle and impair correct localization, highlighting that active motor function is essential for its role at the cell membrane."}, {"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": "\nBeyond its mechanical and targeting properties, MYO1A has been implicated as a tumor suppressor in epithelial tissues such as the colon and stomach. Loss of MYO1A function—whether through frameshift mutations, promoter hypermethylation, or mislocalization from the membrane—leads to reduced cellular polarization and differentiation. This compromised brush border integrity is associated with accelerated tumor growth and poorer clinical outcomes, indicative of its critical role in maintaining epithelial homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMYO1A has also been explored as a candidate gene for autosomal dominant non‐syndromic sensorineural hearing loss. Initial mapping studies and mutation analyses—including identification of missense and nonsense variants within the DFNA48 locus—suggested a potential auditory role. However, subsequent evaluations involving population frequency data, genotypic ascertainment, and functional analyses have challenged these claims, indicating that MYO1A may be largely dispensable for normal auditory function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "M J Tyska, M S Mooseker "}, {"type": "b", "children": [{"type": "t", "text": "MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biophys J (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0006-3495(02)75537-9"}], "href": "https://doi.org/10.1016/S0006-3495(02"}, {"type": "t", "text": "75537-9) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11916846"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11916846"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Christopher M Yengo, Shobana K Ananthanarayanan, Chris A Brosey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biophys J (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1529/biophysj.107.122689"}], "href": "https://doi.org/10.1529/biophysj.107.122689"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17981900"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17981900"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Joseph M Laakso, John H Lewis, Henry Shuman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myosin I can act as a molecular force sensor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1159419"}], "href": "https://doi.org/10.1126/science.1159419"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18599791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18599791"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jessica N Mazerik, Matthew J Tyska "}, {"type": "b", "children": [{"type": "t", "text": "Myosin-1A targets to microvilli using multiple membrane binding motifs in the tail homology 1 (TH1) domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.336313"}], "href": "https://doi.org/10.1074/jbc.M111.336313"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22367206"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22367206"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rocco Mazzolini, Higinio Dopeso, Silvia Mateo-Lozano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Brush border myosin Ia has tumor suppressor activity in the intestine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1108411109"}], "href": "https://doi.org/10.1073/pnas.1108411109"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22307608"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22307608"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rocco Mazzolini, Paulo Rodrigues, Sarah Bazzocco, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Brush border myosin Ia inactivation in gastric but not endometrial tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.27856"}], "href": "https://doi.org/10.1002/ijc.27856"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23002058"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23002058"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Pio D'Adamo, Maura Pinna, Saverio Capobianco, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-002-0880-6"}], "href": "https://doi.org/10.1007/s00439-002-0880-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12596055"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12596055"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Francesca Donaudy, Antonella Ferrara, Laura Esposito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/375654"}], "href": "https://doi.org/10.1086/375654"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12736868"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12736868"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Tobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted and genomewide NGS data disqualify mutations in MYO1A, the \"DFNA48 gene\", as a cause of deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22532"}], "href": "https://doi.org/10.1002/humu.22532"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24616153"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24616153"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Tae-Jun Kwon, Se-Kyung Oh, Hong-Joon Park, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Open Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1098/rsob.140107"}], "href": "https://doi.org/10.1098/rsob.140107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25080041"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25080041"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "John Patton, Carmen Brewer, Wade Chien, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2016.140"}], "href": "https://doi.org/10.1038/ejhg.2016.140"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27759032"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27759032"}]}]}]}
Synonyms	MYHL, BBMI, DFNA48
Proteins	MYO1A_HUMAN
NCBI Gene ID	4640
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MYO1A has 4,102 functional associations with biological entities spanning 9 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, sequence feature) extracted from 111 datasets.

Click the + buttons to view associations for MYO1A from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MYO1A 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 MYO1A 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 MYO1A 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 MYO1A 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 MYO1A 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 MYO1A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MYO1A 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 MYO1A 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 MYO1A 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 MYO1A 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 MYO1A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MYO1A 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 MYO1A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MYO1A 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 MYO1A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MYO1A 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 MYO1A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with MYO1A gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MYO1A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MYO1A gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MYO1A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MYO1A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MYO1A 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 MYO1A 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 MYO1A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MYO1A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MYO1A gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MYO1A gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MYO1A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving MYO1A gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MYO1A 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 MYO1A 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 MYO1A 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 MYO1A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MYO1A 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 MYO1A 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 MYO1A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MYO1A 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 MYO1A from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with MYO1A gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with MYO1A gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.