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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OXNAD1
oxidoreductase NAD binding domain containing 1
Chromosome 3 · 3p25.1-p24.3
NCBI Gene: 92106Ensembl: ENSG00000154814.14HGNC: HGNC:25128UniProt: C9JLB7
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrionoxidoreductase activitypyelonephritismajor salivary gland cancergastric cancerhypertension
✦AI Summary

OXNAD1 (oxidoreductase NAD binding domain containing 1) is a mitochondrial protein containing an NAD-binding oxidoreductase domain with emerging roles in metabolic regulation and immune aging. OXNAD1 is transcriptionally regulated by PGC-1α and estrogen-related receptor α (ERRα), key regulators of mitochondrial biogenesis and metabolic homeostasis in skeletal muscle 1. The gene is located within a bidirectional promoter shared with DPH3, and frequent somatic UV-signature mutations in this promoter region have been identified across skin cancers, particularly in basal cell carcinoma (42%) and squamous cell carcinoma (39%), though functional consequences remain unclear 23. OXNAD1 functions as a hub gene in immune aging pathways, with age-related expression variations shared between Asian and Caucasian populations 4. Notably, circular RNA circOXNAD1 derived from hypoxia-treated mesenchymal stem cell exosomes demonstrates neuroprotective effects against spinal cord ischemia-reperfusion injury through a miR-29a-3p/FOXO3a regulatory axis 5. Proteomic analysis indicates elevated OXNAD1 expression in lung metastatic colorectal cancer compared to primary lung adenocarcinomas 6. These findings suggest OXNAD1 participates in mitochondrial metabolism, immune system aging, and stress-responsive cellular protection mechanisms.

Sources cited
1
OXNAD1 shares a bidirectional promoter with DPH3; frequent UV-signature somatic mutations in this promoter occur in skin cancers (melanoma 10%, BCC 42%, SCC 39%)
PMID: 26416425
2
OXNAD1 promoter mutations are identified as frequent non-coding mutations in BCC carcinogenesis
PMID: 29165358
3
OXNAD1 is regulated by PGC-1α and ERRα in skeletal muscle; upregulated by AICAR; linked to metabolic functions including oxido-reductase activity
PMID: 25192891
4
OXNAD1 is a top hub gene shared between Asian and Caucasian aging-related modules in immune system aging
PMID: 35822054
5
Circular RNA circOXNAD1 from hypoxia-treated mesenchymal stem cells provides neuroprotection against spinal cord injury through miR-29a-3p/FOXO3a axis
PMID: 36969321
6
OXNAD1 protein is upregulated in lung metastatic colorectal cancer compared to primary lung adenocarcinomas
PMID: 38608841
Disease Associationsⓘ20
pyelonephritisOpen Targets
0.30Weak
major salivary gland cancerOpen Targets
0.29Weak
gastric cancerOpen Targets
0.15Weak
hypertensionOpen Targets
0.11Weak
essential hypertensionOpen Targets
0.10Suggestive
jaw diseaseOpen Targets
0.04Suggestive
pregnancy disorderOpen Targets
0.04Suggestive
osteitis deformansOpen Targets
0.04Suggestive
nephrotic syndromeOpen Targets
0.03Suggestive
obesityOpen Targets
0.03Suggestive
overnutritionOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
renal osteodystrophyOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
rheumatic diseaseOpen Targets
0.02Suggestive
refractive errorOpen Targets
0.02Suggestive
Abnormality of refractionOpen Targets
0.02Suggestive
SepsisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CAPN7Protein interaction90%DHODHProtein interaction87%UMPSProtein interaction87%DPYDProtein interaction86%XIRP1Protein interaction84%DPH3Protein interaction61%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
95%
Heart
77%
Lung
39%
Brain
37%
Ovary
32%
Gene Interaction Network
Click a node to explore
OXNAD1CAPN7DHODHUMPSDPYDXIRP1DPH3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96HP4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.79–1.42]
RankingsWhere OXNAD1 stands among ~20K protein-coding genes
  • #15,643of 20,598
    Most Researched15
  • #14,631of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedOXNAD1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Frequent DPH3 promoter mutations in skin cancers.
PMID: 26416425
Oncotarget · 2015
1.00
2
Gene Expression Analysis Reveals Age and Ethnicity Signatures Between Young and Old Adults in Human PBMC.
PMID: 35822054
Front Aging · 2021
0.86
3
Understanding the Molecular Genetics of Basal Cell Carcinoma.
PMID: 29165358
Int J Mol Sci · 2017
0.71
4
New gene targets of PGC-1α and ERRα co-regulation in C2C12 myotubes.
PMID: 25192891
Mol Biol Rep · 2014
0.57
5
Integrating Single-Cell RNA-Seq and Bulk RNA-Seq to Construct a Novel γδT Cell-Related Prognostic Signature for Human Papillomavirus-Infected Cervical Cancer.
PMID: 39206965
Cancer Control · 2024
0.43