ATP6V1H Gene

HGNC Family	ATPases
Name	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Description	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ATP6V1H, which encodes the H subunit of the vacuolar‐type H<sup>+</sup>‐ATPase (V‑ATPase), plays a central role in ensuring proper assembly and function of the entire proton pump complex. In cancer cells, for example, its interaction with TM9SF4 is critical for the assembly of the V‑ATPase V1/V0 sectors, a process that contributes to tumor cell pH dysregulation, invasiveness, and drug resistance (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the bone, ATP6V1H is equally important; mutations in this gene have been linked to short stature, osteoporosis, and craniofacial developmental defects. Loss‐of‐function studies in zebrafish and clinical observations in humans and mice reveal that ATP6V1H deficiency leads to reduced formation of calcified bone and aberrant expression of matrix metalloproteinases (MMP9/MMP13), thereby disrupting bone homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, altered expression of ATP6V1H is observed in metabolic disorders; significant down‐regulation of its transcript accompanies the transition to type 2 diabetes, suggesting that impaired V‑ATPase activity may contribute to the metabolic dysregulation seen in diabetic patients."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In bone marrow stromal cells under a type 2 diabetes–simulating environment, ATP6V1H promotes osteogenic differentiation by modulating signaling pathways such as Akt/GSK3β; overexpression supports, whereas knockdown impairs, osteogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its roles in bone and metabolism, ATP6V1H is subject to regulation via post‐translational modifications in cancer. In epithelial ovarian cancer cells, SGK2 directly phosphorylates ATP6V1H, thereby influencing the V‑ATPase function in lysosomal acidification and autophagy. This modification affects the autophagic flux and modulates cellular sensitivity to platinum‐based chemotherapy"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", highlighting a link between ATP6V1H activity, lysosome-mediated degradation pathways, and drug response. Moreover, genetic variation within ATP6V1H has been associated with altered cerebrospinal fluid BACE activity, suggesting that ATP6V1H may have implications in neurodegenerative disease pathogenesis such as Alzheimer’s disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings position ATP6V1H as a key regulator of V‑ATPase assembly and function, with critical downstream effects on cellular pH homeostasis, bone formation, metabolic regulation, and autophagy. Variations in its expression and post‐translational modification have significant consequences for both normal physiology and disease states.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "F Lozupone, M Borghi, F Marzoli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TM9SF4 is a novel V-ATPase-interacting protein that modulates tumor pH alterations associated with drug resistance and invasiveness of colon cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2014.437"}], "href": "https://doi.org/10.1038/onc.2014.437"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25659576"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25659576"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yihan Zhang, Haigen Huang, Gexin Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1006481"}], "href": "https://doi.org/10.1371/journal.pgen.1006481"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28158191"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28158191"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Wanmin Zhao, Yanli Zhang, Shaoqing Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of two transcript isoforms of vacuolar ATPase subunit H in mouse and zebrafish."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2017.09.065"}], "href": "https://doi.org/10.1016/j.gene.2017.09.065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28970149"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28970149"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Melanie F Molina, Hui-Qi Qu, Anne R Rentfro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Decreased expression of ATP6V1H in type 2 diabetes: a pilot report on the diabetes risk study in Mexican Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2011.08.041"}], "href": "https://doi.org/10.1016/j.bbrc.2011.08.041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21871445"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21871445"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lin Li, Shaoqing Yang, Yanli Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATP6V1H regulates the growth and differentiation of bone marrow stromal cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2018.05.124"}], "href": "https://doi.org/10.1016/j.bbrc.2018.05.124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29782852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29782852"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Valentina Ranzuglia, Ilaria Lorenzon, Ilenia Pellarin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum- and glucocorticoid- inducible kinase 2, SGK2, is a novel autophagy regulator and modulates platinum drugs response in cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41388-020-01433-6"}], "href": "https://doi.org/10.1038/s41388-020-01433-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32848212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32848212"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hao Hu, Haiyan Li, Jieqiong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-018-0603-z"}], "href": "https://doi.org/10.1186/s12881-018-0603-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29751835"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29751835"}]}]}]}
Synonyms	VMA13, MSTP042, CGI-11, SFDBETA, SFDALPHA
Proteins	VATH_HUMAN
NCBI Gene ID	51606
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ATP6V1H has 7,446 functional associations with biological entities spanning 8 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) extracted from 120 datasets.

Click the + buttons to view associations for ATP6V1H from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ATP6V1H gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ATP6V1H 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 ATP6V1H gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ATP6V1H protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ATP6V1H 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 ATP6V1H gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ATP6V1H protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ATP6V1H protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H 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 ATP6V1H gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ATP6V1H gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ATP6V1H gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ATP6V1H 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 ATP6V1H 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 ATP6V1H gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ATP6V1H 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 ATP6V1H 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 ATP6V1H gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ATP6V1H 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 ATP6V1H from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ATP6V1H gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ATP6V1H 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 ATP6V1H from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of ATP6V1H gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.