OXR1 Gene

Name	oxidation resistance 1
Description	Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cysteine S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOXR1 is a highly conserved gene that is rapidly induced under oxidative and heat stress, with its protein product localizing primarily to mitochondria to protect cells from oxidative damage. Initial studies in yeast and human cells demonstrated that OXR1 functions in antioxidant defense by reducing oxidative DNA damage and maintaining mitochondrial integrity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its basal protective role, OXR1 contributes to cellular homeostasis by upregulating antioxidant enzymes via pathways such as p21 signaling. Depletion of OXR1 increases reactive oxygen species, compromises mitochondrial DNA integrity, perturbs cell cycle regulation (notably through shortened G2/M arrest), and promotes apoptosis. These functions have been underscored in studies demonstrating that loss of OXR1 sensitizes cells to oxidative stress and leads to aberrant expression of key antioxidant genes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nOXR1 also plays diverse roles in specialized cell types and in pathological contexts. In senescent cells, for example, OXR1 is directly targeted by molecules like piperlongumine, linking its degradation via the ubiquitin‐proteasome system to senolytic activity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Similarly, in neuronal models, downregulation of OXR1—such as that mediated by hsa‐miR‑302e in sevoflurane-induced cytotoxicity—can be counteracted by its overexpression to alleviate neurotoxicity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Moreover, elevated levels of OXR1 have been shown to rescue key features of amyotrophic lateral sclerosis (ALS), where OXR1 modulates the subcellular distribution and aggregation of pathological proteins like TDP-43."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Its significance extends to maintaining proper lysosomal function, as loss of OXR1 leads to aberrant lysosomal morphology and neurodegeneration, and to preserving genome stability following oxidative insults."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " In the sensory system, pathogenic variants in OXR1 have been associated with sensorineural hearing loss, and in the brain, loss-of-function mutations result in cerebellar atrophy and developmental delay. Finally, studies in model organisms implicate OXR1 in the stabilization of the retromer complex, a function that is critical for neuronal health and longevity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nathan A Elliott, Michael R Volkert "}, {"type": "b", "children": [{"type": "t", "text": "Stress induction and mitochondrial localization of Oxr1 proteins in yeast and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.24.8.3180-3187.2004"}], "href": "https://doi.org/10.1128/MCB.24.8.3180-3187.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15060142"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15060142"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Mathieu Durand, Adrianne Kolpak, Timothy Farrell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The OXR domain defines a conserved family of eukaryotic oxidation resistance proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2121-8-13"}], "href": "https://doi.org/10.1186/1471-2121-8-13"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17391516"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17391516"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kenan C Murphy, Michael R Volkert "}, {"type": "b", "children": [{"type": "t", "text": "Structural/functional analysis of the human OXR1 protein: identification of exon 8 as the anti-oxidant encoding function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Mol Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2199-13-26"}], "href": "https://doi.org/10.1186/1471-2199-13-26"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22873401"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22873401"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mingyi Yang, Luisa Luna, Jan Gunnar Sørbø, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Free Radic Biol Med (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.freeradbiomed.2014.09.003"}], "href": "https://doi.org/10.1016/j.freeradbiomed.2014.09.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25236744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25236744"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mattéa J Finelli, Kevin X Liu, Yixing Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv104"}], "href": "https://doi.org/10.1093/hmg/ddv104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25792726"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25792726"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mingyi Yang, Xiaolin Lin, Alexander Rowe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptome analysis of human OXR1 depleted cells reveals its role in regulating the p53 signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep17409"}], "href": "https://doi.org/10.1038/srep17409"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26616534"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26616534"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Xin Zhang, Suping Zhang, Xingui Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxidation resistance 1 is a novel senolytic target."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging Cell (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/acel.12780"}], "href": "https://doi.org/10.1111/acel.12780"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29766639"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29766639"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Leilei Yang, Qian Shen, Yanqiong Xia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sevoflurane‑induced neurotoxicity is driven by OXR1 post‑transcriptional downregulation involving hsa‑miR‑302e."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2018.9442"}], "href": "https://doi.org/10.3892/mmr.2018.9442"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30221705"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30221705"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Matthew G Williamson, Mattéa J Finelli, James N Sleigh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddz190"}], "href": "https://doi.org/10.1093/hmg/ddz190"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31642482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31642482"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Julia Wang, Justine Rousseau, Emily Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2019.11.002"}], "href": "https://doi.org/10.1016/j.ajhg.2019.11.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31785787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31785787"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ako Matsui, Junya Kobayashi, Shin-Ichiro Kanno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Oxidation resistance 1 prevents genome instability through maintenance of G2/M arrest in gamma-ray-irradiated cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Radiat Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jrr/rrz080"}], "href": "https://doi.org/10.1093/jrr/rrz080"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31845986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31845986"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Yuan Li, Guozhu Ning, Baoling Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddac229"}], "href": "https://doi.org/10.1093/hmg/ddac229"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36130215"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36130215"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Xiaolin Lin, Wei Wang, Mingyi Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Biol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13059-023-03037-1"}], "href": "https://doi.org/10.1186/s13059-023-03037-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37773136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37773136"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Kenneth A Wilson, Sudipta Bar, Eric B Dammer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OXR1 maintains the retromer to delay brain aging under dietary restriction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-023-44343-3"}], "href": "https://doi.org/10.1038/s41467-023-44343-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38212606"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38212606"}]}]}]}
Synonyms	NBLA00307, TLDC3
Proteins	OXR1_HUMAN
NCBI Gene ID	55074
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

OXR1 has 7,621 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 112 datasets.

Click the + buttons to view associations for OXR1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of OXR1 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 OXR1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of OXR1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of OXR1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with OXR1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of OXR1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of OXR1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing OXR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing OXR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing OXR1 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 OXR1 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 OXR1 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 OXR1 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 OXR1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with OXR1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with OXR1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with OXR1 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 OXR1 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 OXR1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving OXR1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with OXR1 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 OXR1 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 OXR1 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 OXR1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with OXR1 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 OXR1 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 OXR1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of OXR1 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 OXR1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with OXR1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.