ADPRS Gene (ADP-Ribosylserine Hydrolase)
Key regulator of ADP-ribosylation dynamics in DNA damage repair and cellular stress responses
Gene Information Card
| Symbol | ADPRS |
|---|---|
| Full Name | ADP-ribosylserine hydrolase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 54936 ncbi.nlm.nih.gov/gene/54936 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9NX46 |
| OMIM ID | 618170 |
| HGNC ID | 25134 |
| Aliases | ADPRHL2, ARH3, ADPRS1 |
Description
The ADPRS gene encodes ADP-ribosylserine hydrolase (ARH3), an enzyme that specifically hydrolyzes ADP-ribosylserine linkages, reversing serine ADP-ribosylation. This activity is critical for regulating ADP-ribosylation dynamics during DNA damage repair, chromatin remodeling, and cellular stress responses. ADPRS is involved in the removal of poly(ADP-ribose) from proteins, thereby modulating PARP-dependent signaling pathways. Mutations in ADPRS have been linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with ataxia and spasticity (NEDCAS) | Loss-of-function mutations impair ADP-ribosylserine hydrolysis, leading to accumulation of ADP-ribosylated proteins and neuronal dysfunction | ClinVar, OMIM |
| Breast cancer | Altered ADPRS expression may affect DNA repair capacity and PARP inhibitor sensitivity | COSMIC, NCBI Gene |
| Ovarian cancer | Somatic mutations and copy number alterations observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | Embryonic kidney cells |
| HeLa | 11.2 | Cervical cancer cells |
| K562 | 9.5 | Leukemia cells |
| SH-SY5Y | 16.3 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144Trp) | Missense | Rare | Loss of hydrolase activity; associated with NEDCAS |
| c.694G>A (p.Gly232Arg) | Missense | Rare | Reduced protein stability and enzymatic function |
| c.1003C>T (p.Arg335*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that reduce or abolish ADP-ribosylserine hydrolase activity, leading to accumulation of ADP-ribosylated proteins and cellular dysfunction.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADPRS.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ADPRS.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000287 magnesium ion binding | • GO:0003824 catalytic activity |
| • GO:0003950 ADP-ribosylarginine hydrolase activity | • GO:0005634 nucleus |
| • GO:0005737 cytoplasm | • GO:0006281 DNA repair |
| • GO:0016787 hydrolase activity | • GO:0035609 ADP-ribosylserine hydrolase activity |
| • GO:0070213 protein ADP-ribosylation |
Pathways
• ADP-ribosylation and reversal (Reactome: R-HSA-6814756)
• DNA damage response (Reactome: R-HSA-73894)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
ADP-ribosylserine hydrolase (ARH3) is a 363-amino acid protein that belongs to the ADP-ribosylglycohydrolase family. It contains a conserved macrodomain fold and requires magnesium ions for catalytic activity. ARH3 specifically cleaves ADP-ribose from serine residues, reversing serine ADP-ribosylation. The protein is localized to both the nucleus and cytoplasm, where it participates in DNA repair and stress signaling. Structural studies reveal a deep catalytic cleft that accommodates the ADP-ribose moiety. ARH3 is essential for maintaining cellular ADP-ribosylation homeostasis and preventing neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADPRS Knockout HEK293 Cell Line | EDJ-KQ12297 | Human | 54936 | Details Get a Quote |
| ADPRS Knockout HCT 116 Cell Line | EDJ-KQ41110 | Human | 54936 | Details Get a Quote |
| ADPRS Knockout HeLa Cell Line | EDJ-KQ41111 | Human | 54936 | Details Get a Quote |
| ADPRS Knockout A-549 Cell Line | EDJ-KQ39861 | Human | 54936 | Details Get a Quote |
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