Gene Gene information from NCBI Gene database.
Entrez ID 55074
Gene name Oxidation resistance 1
Gene symbol OXR1
Synonyms (NCBI Gene)
CHEGDDNbla00307TLDC3
Chromosome 8
Chromosome location 8q23.1
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1587174071 C>G Pathogenic, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1587174948 A>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1587302415 G>T Pathogenic, likely-pathogenic Downstream transcript variant, genic downstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
604
miRTarBase ID miRNA Experiments Reference
MIRT052140 hsa-let-7b-5p CLASH 23622248
MIRT054917 hsa-miR-200b-3p Luciferase reporter assayqRT-PCRWestern blot 23404117
MIRT223805 hsa-miR-144-3p PAR-CLIP 23592263
MIRT471693 hsa-miR-875-5p PAR-CLIP 23592263
MIRT471692 hsa-miR-586 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IBA
GO:0005730 Component Nucleolus IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 15060142
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605609 15822 ENSG00000164830
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N573
Protein name Oxidation resistance protein 1
Protein function May be involved in protection from oxidative damage.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01476 LysM 101 143 LysM domain Domain
PF07534 TLD 738 874 TLD Domain
Sequence
MTKDKNSPGLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQK
HPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVESRDSLNSIALKFDTTP
NELVQLNKLFSRAVVTGQVLYVP
DPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDV
HPTEATPSSTFTGIRPARVVSSTSEEEEAFTEKFLKINCKYITSGKGTVSGVLLVTPNNI
MFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCH
SKKMTGSNTEEIDSRIRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQ
DKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEM
AIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQK
QSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQVSQKEAKHKITSADGH
IESSALLKEKQRHRLHKFLCLRVGKPMRKTFVSQASATMQQYAQRDKKHEYWFAVPQERT
DHLYAFFIQWSPEIYAEDTGEYTREPGFIVVKKIEESETIEDSSNQAAAREWEVVSVAEY
HRRIDALNTEELRTLCRRLQITTREDINSKQVATVKADLESESFRPNLSDPSELLLPDQI
EKLTKHLPPRTIGYPWTLVYGTGKHGTSLKTLYRTMTGLDTPVLMVIKDSDGQVFGALAS
EPLKVSDGFYGTGETFVFTFCPEFEVFKWTGDNMFFIKGDMDSLAFGGGGGEFALWLDGD
LYHGRSHSCKTFGNRTLSKKEDFFIQDIEIWAFE
Sequence length 874
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital cerebellar hypoplasia Pathogenic rs1587174071, rs1587302415 RCV000993804
RCV000993803
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1587174948, rs1333855063 -
Hearing impairment Conflicting classifications of pathogenicity rs200863692 RCV002292448
OXR1-related disorder Conflicting classifications of pathogenicity; Likely benign rs145739822, rs1827906095, rs750764834 RCV003966275
RCV003892294
RCV003941975
Uterine corpus endometrial carcinoma Uncertain significance rs772871191 RCV005930723
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 38212606
Asthma Associate 24152222
Autism Spectrum Disorder Stimulate 37958785
Carcinoma Renal Cell Associate 28662726
Cardiomyopathy Restrictive Associate 38212606
Cardiovascular Diseases Associate 36012132
Cerebellar Diseases Associate 37773136
Cognition Disorders Associate 37773136
Developmental Disabilities Associate 37773136
Diabetic Nephropathies Associate 34545296