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    OXR1 oxidation resistance 1 [ Homo sapiens (human) ]

    Gene ID: 55074, updated on 14-Nov-2024

    Summary

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    Official Symbol
    OXR1provided by HGNC
    Official Full Name
    oxidation resistance 1provided by HGNC
    Primary source
    HGNC:HGNC:15822
    See related
    Ensembl:ENSG00000164830 MIM:605609; AllianceGenome:HGNC:15822
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TLDC3; CHEGDD; Nbla00307
    Summary
    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, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 30.5), testis (RPKM 21.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OXR1 in Genome Data Viewer
    Location:
    8q23.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (106270178..106752694)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (107398439..107880522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (107282406..107764922)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902003 Neighboring gene Sharpr-MPRA regulatory region 12229 Neighboring gene solute carrier family 16 member 14 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27799 Neighboring gene OXR1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107672614-107673114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107673115-107673615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:107676087-107676587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27802 Neighboring gene MPRA-validated peak7139 silencer Neighboring gene transgelin 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27803 Neighboring gene RNA, U7 small nuclear 84 pseudogene Neighboring gene uncharacterized LOC124902004 Neighboring gene actin binding Rho activating protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OXR1 maintains the retromer to delay brain aging under dietary restriction.
      Title: OXR1 maintains the retromer to delay brain aging under dietary restriction.
    2. A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
      Title: A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
    3. A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
      Title: A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
    4. MiR-616 promotes the progression of pancreatic carcinoma by targeting OXR1.
      Title: MiR-616 promotes the progression of pancreatic carcinoma by targeting OXR1.
    5. Oxidation resistance 1 prevents genome instability through maintenance of G2/M arrest in gamma-ray-irradiated cells.
      Title: Oxidation resistance 1 prevents genome instability through maintenance of G2/M arrest in gamma-ray-irradiated cells.
    6. Over-expression of Oxr1 was able to delay neuromuscular abnormalities in the hSOD1G93A amyotrophic lateral sclerosis mouse model.
      Title: Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.
    7. Loss of OXR1 is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
      Title: Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
    8. Low OXR1 expression is associated with the development of esophageal squamous cell carcinoma.
      Title: MicroRNA-373 promotes the development of esophageal squamous cell carcinoma by targeting LATS2 and OXR1.
    9. findings provide new insights into the mechanism by which senescent cells are highly resistant to oxidative stress and suggest that OXR1 is a novel senolytic target that can be further exploited for the development of new senolytic agents
      Title: Oxidation resistance 1 is a novel senolytic target.
    10. The results of the present study indicated that sevoflurane exerts its neurotoxic effect by regulating the hsamiR302e/OXR1 axis. Therefore, the manipulation of the hsamiR302e/OXR1 pathway will be useful for preventing sevofluraneinduced neurotoxicity.
      Title: Sevoflurane‑induced neurotoxicity is driven by OXR1 post‑transcriptional downregulation involving hsa‑miR‑302e.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital cerebellar hypoplasia
    MedGen: C5231391 OMIM: 213000 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10125, FLJ38829, FLJ40849, FLJ41673, FLJ42450, FLJ45656

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of peptidyl-cysteine S-nitrosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to oxidative stress NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    oxidation resistance protein 1
    Names
    TBC/LysM-associated domain containing 3
    putative protein product of Nbla00307

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198532.1 → NP_001185461.1  oxidation resistance protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001185461.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AK296561, BM668428, FN650108
      Consensus CDS
      CCDS56548.1
      UniProtKB/Swiss-Prot
      A6NK11, A8KA34, B3KXL1, B7Z402, B7Z8N5, D3HIS6, Q3LIB5, Q6ZVK9, Q8N573, Q8N8V0, Q9H266, Q9NWC7
      Related
      ENSP00000405424.2, ENST00000442977.6
      Conserved Domains (3) summary
      smart00584
      Location:712 → 874
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:72 → 143
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:101 → 143
      LysM; LysM domain

    2. NM_001198533.2 → NP_001185462.1  oxidation resistance protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001185462.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' sequence, compared to variant 3. The resulting isoform (4) has a distinct and one aa shorter N-terminus, as compared to isoform 3.
      Source sequence(s)
      AC023344, AC027031, AC090579, AP000430, AP002090
      Consensus CDS
      CCDS56547.1
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000429205.2, ENST00000517566.7
      Conserved Domains (3) summary
      smart00584
      Location:711 → 873
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:71 → 142
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:100 → 142
      LysM; LysM domain

    3. NM_001198534.1 → NP_001185463.1  oxidation resistance protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001185463.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks multiple 5' exons and has an alternate 5' exon, compared to variant 3. The resulting isoform (5) has a distinct and much shorter N-terminus, as compared to isoform 3.
      Source sequence(s)
      AB075503, BC032710, BM668428, DC366184, FN650108
      Consensus CDS
      CCDS56549.1
      UniProtKB/TrEMBL
      B7Z833
      Related
      ENSP00000297447.6, ENST00000297447.10
      Conserved Domains (1) summary
      smart00584
      Location:81 → 243
      TLDc; domain in TBC and LysM domain containing proteins

    4. NM_001198535.1 → NP_001185464.1  oxidation resistance protein 1 isoform 6

      See identical proteins and their annotated locations for NP_001185464.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks multiple 5' exons and an internal in-frame exon, and has an alternate 5' exon, compared to variant 3. The resulting isoform (6) has a distinct and much shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      BM668428, DC366184, FN650108, FN650109
      Consensus CDS
      CCDS56550.1
      UniProtKB/TrEMBL
      B7Z833
      Related
      ENSP00000408659.2, ENST00000449762.6
      Conserved Domains (1) summary
      smart00584
      Location:54 → 216
      TLDc; domain in TBC and LysM domain containing proteins

    5. NM_018002.3 → NP_060472.2  oxidation resistance protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has an alternate 5' sequence and lacks an internal in-frame exon, compared to variant 3. The resulting isoform (1) has a distinct and one aa shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      AK124441, BC032710, BM668428, DA232248, FN650108
      Consensus CDS
      CCDS47909.1
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000431966.1, ENST00000531443.6
      Conserved Domains (3) summary
      smart00584
      Location:684 → 846
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:71 → 142
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:100 → 142
      LysM; LysM domain

    6. NM_181354.4 → NP_851999.2  oxidation resistance protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' sequence and lacks an internal in-frame exon, compared to variant 3. The resulting isoform (2) has a distinct and shorter N-terminus and lacks an internal segment, as compared to isoform 3.
      Source sequence(s)
      AC023344, BC032710, BM682193, DA544318
      Consensus CDS
      CCDS6304.2
      UniProtKB/Swiss-Prot
      Q8N573
      Related
      ENSP00000311026.6, ENST00000312046.10
      Conserved Domains (3) summary
      smart00584
      Location:677 → 839
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:93 → 135
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:93 → 135
      LysM; LysM domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      106270178..106752694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716595.3 → XP_006716658.1  oxidation resistance protein 1 isoform X2

      Conserved Domains (3) summary
      smart00584
      Location:685 → 847
      TLDc; domain in TBC and LysM domain containing proteins
      COG1388
      Location:72 → 143
      LysM; LysM repeat [Cell wall/membrane/envelope biogenesis]
      pfam01476
      Location:101 → 143
      LysM; LysM domain

    2. XM_017013591.2 → XP_016869080.1  oxidation resistance protein 1 isoform X4

    3. XM_047421919.1 → XP_047277875.1  oxidation resistance protein 1 isoform X8

    4. XM_017013590.2 → XP_016869079.1  oxidation resistance protein 1 isoform X3

    5. XM_047421918.1 → XP_047277874.1  oxidation resistance protein 1 isoform X7

    6. XM_017013589.3 → XP_016869078.1  oxidation resistance protein 1 isoform X1

    7. XM_017013593.3 → XP_016869082.1  oxidation resistance protein 1 isoform X6

    8. XM_017013592.2 → XP_016869081.1  oxidation resistance protein 1 isoform X5

    9. XM_047421920.1 → XP_047277876.1  oxidation resistance protein 1 isoform X9

    10. XM_047421921.1 → XP_047277877.1  oxidation resistance protein 1 isoform X10

    11. XM_047421922.1 → XP_047277878.1  oxidation resistance protein 1 isoform X11

      Related
      ENSP00000430701.2, ENST00000519415.6

    RNA

    1. XR_001745547.2 RNA Sequence

    2. XR_007060735.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      107398439..107880522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360734.1 → XP_054216709.1  oxidation resistance protein 1 isoform X2

    2. XM_054360736.1 → XP_054216711.1  oxidation resistance protein 1 isoform X4

    3. XM_054360740.1 → XP_054216715.1  oxidation resistance protein 1 isoform X8

    4. XM_054360735.1 → XP_054216710.1  oxidation resistance protein 1 isoform X3

    5. XM_054360739.1 → XP_054216714.1  oxidation resistance protein 1 isoform X7

    6. XM_054360733.1 → XP_054216708.1  oxidation resistance protein 1 isoform X1

    7. XM_054360738.1 → XP_054216713.1  oxidation resistance protein 1 isoform X6

    8. XM_054360737.1 → XP_054216712.1  oxidation resistance protein 1 isoform X5

    9. XM_054360741.1 → XP_054216716.1  oxidation resistance protein 1 isoform X9

    10. XM_054360742.1 → XP_054216717.1  oxidation resistance protein 1 isoform X10

    11. XM_054360743.1 → XP_054216718.1  oxidation resistance protein 1 isoform X11

    RNA

    1. XR_008487853.1 RNA Sequence

    2. XR_008487854.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N573.2 GenPept UniProtKB/Swiss-Prot:Q8N573

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