Seroatlas · Human Serome Atlas

OXR1

Oxidation resistance protein 1

Also known as: OXR1_HUMAN, TLDC3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N573
Gene: OXR1
Ensembl: ENSG00000164830
Chromosome: 8
Canonical length: 874 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

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, Apr 2025]

Canonical amino-acid sequenceUniProt

874 residues, UniProt reviewed canonical sequence.

>Q8N573|OXR1
     1  MTKDKNSPGL KKKSQSVDIN APGFNPLAGA GKQTPQASKP PAPKTPIIEE EQNNAANTQK
    61  HPSRRSELKR FYTIDTGQKK TLDKKDGRRM SFQKPKGTIE YTVESRDSLN SIALKFDTTP
   121  NELVQLNKLF SRAVVTGQVL YVPDPEYVSS VESSPSLSPV SPLSPTSSEA EFDKTTNPDV
   181  HPTEATPSST FTGIRPARVV SSTSEEEEAF TEKFLKINCK YITSGKGTVS GVLLVTPNNI
   241  MFDPHKNDPL VQENGCEEYG IMCPMEEVMS AAMYKEILDS KIKESLPIDI DQLSGRDFCH
   301  SKKMTGSNTE EIDSRIRDAG NDSASTAPRS TEESLSEDVF TESELSPIRE ELVSSDELRQ
   361  DKSSGASSES VQTVNQAEVE SLTVKSESTG TPGHLRSDTE HSTNEVGTLC HKTDLNNLEM
   421  AIKEDQIADN FQGISGPKED STSIKGNSDQ DSFLHENSLH QEESQKENMP CGETAEFKQK
   481  QSVNKGKQGK EQNQDSQTEA EELRKLWKTH TMQQTKQQRE NIQQVSQKEA KHKITSADGH
   541  IESSALLKEK QRHRLHKFLC LRVGKPMRKT FVSQASATMQ QYAQRDKKHE YWFAVPQERT
   601  DHLYAFFIQW SPEIYAEDTG EYTREPGFIV VKKIEESETI EDSSNQAAAR EWEVVSVAEY
   661  HRRIDALNTE ELRTLCRRLQ ITTREDINSK QVATVKADLE SESFRPNLSD PSELLLPDQI
   721  EKLTKHLPPR TIGYPWTLVY GTGKHGTSLK TLYRTMTGLD TPVLMVIKDS DGQVFGALAS
   781  EPLKVSDGFY GTGETFVFTF CPEFEVFKWT GDNMFFIKGD MDSLAFGGGG GEFALWLDGD
   841  LYHGRSHSCK TFGNRTLSKK EDFFIQDIEI WAFE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OXR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

retina: 74 nTPM
cerebral cortex: 64 nTPM
tongue: 56 nTPM
adrenal gland: 55 nTPM
testis: 52 nTPM
epididymis: 51 nTPM

Single-cell type

rod photoreceptor cells: 2,239 nCPM
retinal amacrine cells: 1,346 nCPM
microglia: 1,319 nCPM
renal collecting duct intercalated cells: 1,235 nCPM
loop of henle epithelial cells: 1,093 nCPM
proximal tubule cells: 903 nCPM

Immune cell

basophil: 38 nTPM
non-classical monocyte: 20 nTPM
eosinophil: 18 nTPM
intermediate monocyte: 18 nTPM
naive CD4 T-cell: 16 nTPM
memory B-cell: 12 nTPM

Brain region

cerebral cortex: 148 nTPM
white matter: 88 nTPM
pons: 88 nTPM
basal ganglia: 87 nTPM
cerebellum: 72 nTPM
thalamus: 66 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OXR1.

Disease | AllUniProt

Conditions OXR1 is implicated in, by any mechanism.

Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (CHEGDD) MIM:213000

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 181 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital cerebellar hypoplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.34
gnomAD pLI: 0.84
gnomAD missense Z: 1.02
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

oxidoreductase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OXR1 as an antibody target. Whether an autoantibody or antibody against OXR1 could matter depends on whether native OXR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OXR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OXR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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