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FLASH GENE
Symbol OXR1 contributors: mct - updated : 17-12-2019
HGNC name oxidation resistance 1
HGNC id 15822
Corresponding disease
IDECA intellectual disability, epilepsy, and cerebellar anomalies
Location 8q23.1      Physical location : 107.282.472 - 107.764.917
Synonym name
  • putative protein product of Nbla00307
  • TBC/LysM-associated domain containing 3
  • Synonym symbol(s) Nbla00307, FLJ10125, FLJ38829, FLJ41673, FLJ42450, FLJ45656, TLDC3
    DNA
    TYPE functioning gene
    STRUCTURE 482.52 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • protein segment encoded by OXR1 exon 8 plays an important role in the anti-oxidative function of the human OXR1 protein
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text exon 8, especially the region encoding a large predicted helix-turn-helix region, is the key determinant for the oxidation resistance function of the OXR1 protein (PMID: 22873401)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4635 94 846 - 2012 22873401
    14 splicing 4465 93 839 - 2012 22873401
  • having a distinct 5' UTR and multiple differences in the 5' coding region compared to variant 1
  • translation initiation at a different ATG compared to variant 1
  • 17 - 4716 - 873 - 2012 22873401
    16 - 4490 - 874 - 2012 22873401
    7 - 2635 - 243 - 2012 22873401
    6 - 2554 - 216 - 2012 22873401
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Endocrineadrenal gland   highly
    Nervousbrain   highly
    Reproductivemale systemseminal vesicles  highly
    Respiratoryrespiratory tracttrachea  predominantly
     respiratory tractlarynx  moderately
    Urinarybladder   highly
     kidney   highly
    Visualeyeretina    Mus musculusAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Mus musculusAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text moderately in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a LysM repeat,(aa 97 to 142)
  • a GRAM domain,(aa 207 to 274)
  • a TLDc domain (which starts near the end of sequence encoded in exon 12) (aa 684 to 846); this TLDc domain, found in OXR1 exons 12-16 and common in many proteins with nuclear function, has an alternate (undefined) role other than oxidative repair
  • HOMOLOGY
    interspecies homolog to rattus Oxr1 (84.8 pc)
    homolog to murine Oxr1 (83.7 pc)
    intraspecies paralog to NCOA7
    Homologene
    FAMILY
  • OXR1 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    text
  • localizes to mitochondria, and appears to be excluded, or largely absent from nuclei
  • specific isoforms are associated with the outer mitochondrial membrane, while the full-length OXR1 protein is predominately cytoplasmic(
  • basic FUNCTION
  • may be involved in protection from oxidative damage
  • like its homologue, OXR1, NCOA7 is capable of reducing the DNA damaging effects of reactive oxygen species when expressed in bacteria, indicating the protein has an activity that can contribute to oxidation resistance
  • vital protein that controls the sensitivity of neuronal cells to oxidative stress
  • is potentially a novel neuroprotective factor in neurodegenerative disease
  • OXR1 and its close homolog NCOA7 are produced in many different forms either as a result of alternative splicing, or alternative transcription start sites
  • OXR1 as the first neuron-specific antioxidant modulator of pathogenesis and disease progression in SOD1-mediated amyotrophic lateral sclerosis
  • is a novel senolytic target that can be further exploited for the development of new senolytic agents
  • new molecular function for OXR1, establishing this protein as important player in neuronal survival, regulating both oxidative stress and glucose metabolism in the brain
  • OXR1 plays a critical role in lysosomal biology
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism other
    signaling
    cell wall catabolic process
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • upregulates the expression of antioxidant genes via the CDKN1A signaling pathway to suppress hydrogen peroxide-induced oxidative stress and maintain mtDNA integrity
  • important antioxidant protein that regulates the expression of a variety of antioxidant enzymes
  • OXR1 modulates the additional and less well-understood roles of GPI as a cytokine and neuroprotective factor
  • cell & other
    REGULATION
    induced by heat and oxidative stress
    Other phosphorylated upon DNA damage, probably by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s) IDECA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    neuronal over-expression is protective against ALS-associated mutant TARDBP mislocalisation in motor neurons and neuromuscular defects
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    may serve as a novel target for future therapeutic strategies in ALS
    ANIMAL & CELL MODELS
  • mice lacking Oxr1 display cerebellar neurodegeneration, and neurons are less susceptible to exogenous stress when the gene is over-expressed