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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OARD1
O-acyl-ADP-ribose deacylase 1
Chromosome 6 · 6p21.1
NCBI Gene: 221443Ensembl: ENSG00000124596.17HGNC: HGNC:21257UniProt: C9J5P1
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
purine nucleoside bindingprotein bindingnucleoplasmnucleoluslate-onset Alzheimers diseaseAlzheimer diseaseLeft bundle branch blockesophageal carcinoma
✦AI Summary

OARD1 (O-acyl-ADP-ribose deacylase 1) is an ADP-ribose glycohydrolase that functions as a key regulator of ADP-ribosylation signaling by removing ADP-ribose modifications from proteins. The enzyme specifically acts as a glutamate mono-ADP-ribosylhydrolase, mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins, but cannot directly process poly-ADP-ribosylated proteins 1. OARD1 also catalyzes the deacylation of O-acetyl-ADP-ribose, O-propionyl-ADP-ribose, and O-butyryl-ADP-ribose, yielding ADP-ribose plus the corresponding organic acids. The enzyme's mechanism involves hydrolysis of ADP-ribose linkages and acts on substrates that have been processed by other enzymes like PARG 1. OARD1 has emerging clinical relevance, as genetic variants in the OARD1/NFYA/TREML1 genomic region are significantly associated with Alzheimer's disease risk 23. Additionally, OARD1 variants show associations with diabetic retinopathy through shared genetic pathways with Alzheimer's disease 4, and with Kashin-Beck disease, an endemic osteoarthritis-like condition 5. OARD1 also demonstrates responsiveness to metabolic changes, with expression levels positively correlating with insulin sensitivity in human skeletal muscle 6. These associations suggest OARD1 plays important roles in neurodegeneration, metabolic regulation, and cartilage homeostasis.

Sources cited
1
OARD1 functions as mono-ADP-ribosylhydrolase with substrate specificity
PMID: 30097869
2
OARD1/NFYA/TREML1 variants significantly associated with Alzheimer's disease
PMID: 37693453
3
Confirmation of OARD1 variants association with Alzheimer's disease in whole genome sequencing data
PMID: 38511601
4
OARD1 identified as shared risk gene between diabetic retinopathy and Alzheimer's disease
PMID: 38699385
5
OARD1 variants significantly associated with Kashin-Beck disease
PMID: 33964467
6
OARD1 expression positively correlates with insulin sensitivity in human skeletal muscle
PMID: 29986096
Disease Associationsⓘ20
late-onset Alzheimers diseaseOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.11Weak
Left bundle branch blockOpen Targets
0.06Suggestive
esophageal carcinomaOpen Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
deep vein thrombosisOpen Targets
0.04Suggestive
dementiaOpen Targets
0.03Suggestive
ocular hypotensionOpen Targets
0.02Suggestive
neurodegenerative diseaseOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
osteoarthritis, hipOpen Targets
0.00Suggestive
osteoarthritis, kneeOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
rhabdomyosarcomaOpen Targets
0.00Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.00Suggestive
Duane retraction syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARGProtein interaction81%ADPRSProtein interaction81%PARP10Protein interaction81%MACROD1Protein interaction77%MACROD2Protein interaction65%IGHMBP2Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
90%
Brain
68%
Heart
65%
Ovary
55%
Lung
36%
Gene Interaction Network
Click a node to explore
OARD1PARGADPRSPARP10MACROD1MACROD2IGHMBP2
PROTEIN STRUCTURE
Preparing viewer…
PDB4J5R · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.57–1.76]
RankingsWhere OARD1 stands among ~20K protein-coding genes
  • #13,473of 20,598
    Most Researched23
  • #16,397of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedOARD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mono-ADP-Ribosylhydrolase Assays.
PMID: 30097869
Methods Mol Biol · 2018
1.00
2
Alzheimer's disease as a causal risk factor for diabetic retinopathy: a Mendelian randomization study.
PMID: 38699385
Front Endocrinol (Lausanne) · 2024
0.90
3
A coding and non-coding transcriptomic perspective on the genomics of human metabolic disease.
PMID: 29986096
Nucleic Acids Res · 2018
0.80
4
Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data.
PMID: 37693453
medRxiv · 2023
0.70
5
Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.
PMID: 38511601
Alzheimers Dement · 2024
0.60