Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55074
Gene name Gene Name - the full gene name approved by the HGNC.
Oxidation resistance 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OXR1
Synonyms (NCBI Gene) Gene synonyms aliases
CHEGDD, Nbla00307, TLDC3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHEGDD
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.1
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT052140 hsa-let-7b-5p CLASH 23622248
MIRT054917 hsa-miR-200b-3p Luciferase reporter assay, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005634 Component Nucleus IBA 21873635
GO:0005739 Component Mitochondrion IEA
GO:0006979 Process Response to oxidative stress IBA 21873635
GO:0006979 Process Response to oxidative stress NAS 11114193
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605609 15822 ENSG00000164830
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Unknown
Disease term Disease name Evidence References Source
Cerebellar Hypoplasia isolated cerebellar hypoplasia/agenesis GenCC
Neuroticism Neuroticism GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
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