OXR1 Gene Summary [Human]
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 neuron death; and negative regulation of peptidyl-cysteine S-nitrosylation. Predicted to be located in mitochondrion and nucleolus. Predicted to be active in nucleus. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | OXR1 |
| Official Name | oxidation resistance 1 [Source:HGNC Symbol;Acc:HGNC:15822] |
| Ensembl ID | ENSG00000164830 |
| Bio databases IDs | |
| Aliases | oxidation resistance 1, TBC/LysM-associated domain containing 3 |
| Synonyms | 2210416C20Rik, C7, C7B, CHEGDD, Nbla00307, oxidation resistance 1, TLDC3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human OXR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LysM domain
- oxidoreductase
- Lysin Motif is a small domain involved in binding peptidoglycan
- TLD
- enzyme
- protein binding
- Lysin motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- peripheral arterial disease
- Huntington disease
- insomnia
- Alzheimer disease
- neuroticism
- neurodegeneration
- pervasive developmental disorder
role in cell
- apoptosis
- expression in
- growth
- cell death
- response by
- methylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OXR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to oxidative stress
- adult walking behavior
- negative regulation of cellular response to oxidative stress
- cellular response to hydroperoxide
- neuron apoptotic process
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- nucleolus
Molecular Function
What the gene product does at the molecular level
- oxidoreductase activity