Aliases for OXR1 Gene

Aliases for OXR1 Gene

  • Oxidation Resistance 1 2 3 5
  • TBC/LysM-Associated Domain Containing 3 2 3
  • Oxidation Resistance Protein 1 3 4
  • Putative Protein Product Of Nbla00307 3
  • Nbla00307 3
  • TLDC3 3

External Ids for OXR1 Gene

Previous GeneCards Identifiers for OXR1 Gene

  • GC08P106704
  • GC08P107697
  • GC08P107299
  • GC08P107586
  • GC08P107626
  • GC08P107699
  • GC08P107282
  • GC08P102604

Summaries for OXR1 Gene

GeneCards Summary for OXR1 Gene

OXR1 (Oxidation Resistance 1) is a Protein Coding gene. Diseases associated with OXR1 include Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay and Visual Epilepsy. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is NCOA7.

UniProtKB/Swiss-Prot Summary for OXR1 Gene

Gene Wiki entry for OXR1 Gene

Additional gene information for OXR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OXR1 Gene

Genomics for OXR1 Gene

GeneHancer (GH) Regulatory Elements for OXR1 Gene

Promoters and enhancers for OXR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J106269 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.6 592 3.6 FOXK2 EP300 CTCF NRF1 BCLAF1 JUND ZIC2 POLR2A ZBTB10 GABPA ENSG00000254615 OXR1 RF00017-7258
GH08J106656 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 522.9 +388.4 388373 4.3 FOXK2 ZNF217 POLR2G SP1 NCOR1 BCLAF1 PHF8 JUND TEAD4 ZFX OXR1 ENSG00000253582 LOC105375700 piR-35547 RNU7-84P RF00017-7260
GH08J106725 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 506 +456.5 456459 2.3 ZBTB40 SP1 POLR2A RFX1 TOE1 MYC NFYB ZNF341 RBM25 MBD2 OXR1 RF00066-190 TAGLN2P1
GH08J106757 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +490.0 490023 7.2 EP300 CTCF USF1 REST CUX1 MYC RAD21 TEAD1 SMC3 MXI1 OXR1 RNU7-84P HSALNG0067619 ABRA
GH08J106617 Promoter/Enhancer 1.2 Ensembl ENCODE 16.5 +347.9 347893 1.4 CTCF TEAD1 ZBTB26 ZSCAN9 KMT2B KLF9 KAT7 USF1 TFDP1 RAD21 OXR1 piR-35547 ENSG00000253582 RF00017-7259
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXR1

Top Transcription factor binding sites by QIAGEN in the OXR1 gene promoter:
  • AP-4
  • ATF
  • Cart-1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • S8
  • TBP

Genomic Locations for OXR1 Gene

Genomic Locations for OXR1 Gene
chr8:106,270,178-106,752,694
(GRCh38/hg38)
Size:
482,517 bases
Orientation:
Plus strand
chr8:107,282,406-107,764,922
(GRCh37/hg19)
Size:
482,517 bases
Orientation:
Plus strand

Genomic View for OXR1 Gene

Genes around OXR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXR1 Gene

Proteins for OXR1 Gene

  • Protein details for OXR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N573-OXR1_HUMAN
    Recommended name:
    Oxidation resistance protein 1
    Protein Accession:
    Q8N573
    Secondary Accessions:
    • A6NK11
    • A8KA34
    • B3KXL1
    • B7Z402
    • B7Z8N5
    • D3HIS6
    • Q3LIB5
    • Q6ZVK9
    • Q8N8V0
    • Q9H266
    • Q9NWC7

    Protein attributes for OXR1 Gene

    Size:
    874 amino acids
    Molecular mass:
    97970 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG25715.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH32710.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAY26396.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA91456.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF85588.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAI46186.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for OXR1 Gene

neXtProt entry for OXR1 Gene

Post-translational modifications for OXR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OXR1 Gene

Domains & Families for OXR1 Gene

Gene Families for OXR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OXR1 Gene

Blocks:
  • Peptidoglycan-binding LysM
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OXR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79052, highly similar to Oxidation resistance protein 1 (B7Z8N5_HUMAN)
  • Oxidation resistance protein 1 (OXR1_HUMAN)
  • OXR1 protein (Q05CY8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N573

UniProtKB/Swiss-Prot:

OXR1_HUMAN :
  • Belongs to the OXR1 family.
Family:
  • Belongs to the OXR1 family.
genes like me logo Genes that share domains with OXR1: view

Function for OXR1 Gene

Molecular function for OXR1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in protection from oxidative damage.
UniProtKB/Swiss-Prot Induction:
By heat shock and oxidative stress.

Phenotypes From GWAS Catalog for OXR1 Gene

Gene Ontology (GO) - Molecular Function for OXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with OXR1: view
genes like me logo Genes that share phenotypes with OXR1: view

Animal Models for OXR1 Gene

MGI Knock Outs for OXR1:
  • Oxr1 Oxr1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OXR1 Gene

Localization for OXR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXR1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXR1 gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005739 mitochondrion IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with OXR1: view

Pathways & Interactions for OXR1 Gene

PathCards logo

SuperPathways for OXR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OXR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress NAS 11114193
GO:0007628 adult walking behavior IEA --
GO:0043524 negative regulation of neuron apoptotic process IEA --
GO:0051402 neuron apoptotic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with OXR1: view

No data available for Pathways by source and SIGNOR curated interactions for OXR1 Gene

Drugs & Compounds for OXR1 Gene

No Compound Related Data Available

Transcripts for OXR1 Gene

mRNA/cDNA for OXR1 Gene

6 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OXR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - -
SP2: - -
SP3:
SP4: - - - -
SP5: - - - -
SP6: -
SP7: - - - - - - - - - - - - -
SP8: -

Relevant External Links for OXR1 Gene

GeneLoc Exon Structure for
OXR1

Expression for OXR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXR1 Gene

Protein differential expression in normal tissues from HIPED for OXR1 Gene

This gene is overexpressed in Frontal cortex (19.6), Brain (16.4), and Heart (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OXR1 Gene



Protein tissue co-expression partners for OXR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXR1

SOURCE GeneReport for Unigene cluster for OXR1 Gene:

Hs.127286

Evidence on tissue expression from TISSUES for OXR1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lymph node(4.2)
  • Eye(2.9)
  • Lung(2.7)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with OXR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXR1 Gene

Orthologs for OXR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OXR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OXR1 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OXR1 31 30
  • 91.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OXR1 31
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Oxr1 17 31 30
  • 84.49 (n)
rat
(Rattus norvegicus)
Mammalia Oxr1 30
  • 84.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OXR1 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OXR1 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves OXR1 31 30
  • 74.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OXR1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oxr1 30
  • 71.07 (n)
Str.9341 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16133 30
zebrafish
(Danio rerio)
Actinopterygii OXR1 (3 of 3) 31
  • 79 (a)
OneToMany
oxr1a 31 30
  • 65.6 (n)
OneToMany
oxr1b 31
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F52E1.13b 32
  • 37 (a)
F52E1.13a 32
  • 37 (a)
F52E1.13c 32
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7690 31
  • 33 (a)
OneToOne
Cin.10480 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10480 30
Species where no ortholog for OXR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OXR1 Gene

ENSEMBL:
Gene Tree for OXR1 (if available)
TreeFam:
Gene Tree for OXR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXR1: view image

Paralogs for OXR1 Gene

Paralogs for OXR1 Gene

(8) SIMAP similar genes for OXR1 Gene using alignment to 7 proteins:

  • OXR1_HUMAN
  • C9JY63_HUMAN
  • E5RFD1_HUMAN
  • E5RII8_HUMAN
  • E9PLW2_HUMAN
  • H0YC07_HUMAN
  • Q05CY8_HUMAN

Pseudogenes.org Pseudogenes for OXR1 Gene

genes like me logo Genes that share paralogs with OXR1: view

Variants for OXR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXR1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
694396 Pathogenic: Congenital cerebellar hypoplasia 106,706,621(+) C/G NONSENSE
694397 Pathogenic: Congenital cerebellar hypoplasia 106,739,584(+) G/T SPLICE_DONOR_VARIANT
rs28921397 - p.Glu100Gly
rs28921419 - p.Gln360Pro
rs28921420 - p.Lys516Arg

Additional dbSNP identifiers (rs#s) for OXR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for OXR1 Gene

Variant ID Type Subtype PubMed ID
dgv3874n106 CNV deletion 24896259
dgv3875n106 CNV deletion 24896259
dgv467n21 CNV loss 19592680
esv1172684 CNV deletion 17803354
esv1610500 CNV deletion 17803354
esv2178363 CNV deletion 18987734
esv2283630 CNV deletion 18987734
esv2421125 CNV deletion 18987734
esv2456389 CNV insertion 19546169
esv2497761 CNV deletion 19546169
esv25447 CNV gain 19812545
esv2602152 CNV deletion 19546169
esv26205 CNV gain 19812545
esv2646049 CNV deletion 19546169
esv2659632 CNV deletion 23128226
esv2672249 CNV deletion 23128226
esv2678972 CNV deletion 23128226
esv2737399 CNV deletion 23290073
esv2737400 CNV deletion 23290073
esv2737401 CNV deletion 23290073
esv2737402 CNV deletion 23290073
esv2737403 CNV deletion 23290073
esv2737404 CNV deletion 23290073
esv2838 CNV loss 18987735
esv29304 CNV loss 19812545
esv3302457 CNV tandem duplication 20981092
esv3304432 CNV mobile element insertion 20981092
esv3305229 CNV mobile element insertion 20981092
esv3306557 CNV mobile element insertion 20981092
esv3365556 CNV insertion 20981092
esv3370976 CNV insertion 20981092
esv3377584 CNV insertion 20981092
esv33830 CNV loss 17666407
esv3390747 CNV duplication 20981092
esv3421726 CNV insertion 20981092
esv3543969 CNV deletion 23714750
esv3543971 CNV deletion 23714750
esv3618305 CNV loss 21293372
esv3618306 CNV loss 21293372
esv3618309 CNV loss 21293372
esv3618312 CNV gain 21293372
esv3618314 CNV loss 21293372
esv3618317 CNV loss 21293372
esv5529 CNV loss 19470904
esv5816 CNV loss 19470904
esv988911 CNV deletion 20482838
nsv1032991 CNV gain 25217958
nsv1075161 CNV deletion 25765185
nsv1075162 CNV deletion 25765185
nsv1143371 CNV deletion 24896259
nsv1146099 CNV deletion 26484159
nsv396328 CNV deletion 16902084
nsv396629 CNV deletion 16902084
nsv396739 CNV deletion 16902084
nsv397388 CNV deletion 16902084
nsv397838 CNV deletion 16902084
nsv472028 CNV novel sequence insertion 20440878
nsv611844 CNV loss 21841781
nsv611845 CNV loss 21841781
nsv6342 CNV deletion 18451855
nsv824701 CNV loss 20364138
nsv831419 CNV loss 17160897
nsv956030 CNV deletion 24416366
nsv957686 CNV deletion 24416366
nsv971345 CNV duplication 23825009
nsv971692 CNV duplication 23825009
nsv981973 CNV duplication 23825009

Variation tolerance for OXR1 Gene

Residual Variation Intolerance Score: 7.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXR1 Gene

Human Gene Mutation Database (HGMD)
OXR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXR1 Gene

Disorders for OXR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OXR1 Gene - From: OMIM, ClinVar, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search OXR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OXR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OXR1 Gene

Publications for OXR1 Gene

  1. Functional genomics reveals a family of eukaryotic oxidation protection genes. (PMID: 11114193) Volkert MR … Housman DE (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 54
  2. Structural/functional analysis of the human OXR1 protein: identification of exon 8 as the anti-oxidant encoding function. (PMID: 22873401) Murphy KC … Volkert MR (BMC molecular biology 2012) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for OXR1 Gene

  • Signalway ELISA kits for OXR1
  • Signalway Proteins for OXR1

Sources for OXR1 Gene