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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
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Variation

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See Variation Viewer (GRCh37.p13)

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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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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