ADPRHL1
ADP-Ribosylhydrolase Like 1
Gene Information Card
| Symbol | ADPRHL1 |
|---|---|
| Full Name | ADP-Ribosylhydrolase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 113622 ncbi.nlm.nih.gov/gene/113622 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8N3Y3 |
| OMIM ID | 610620 |
| HGNC ID | 21307 |
| Aliases | ARH3, ADPRHL1 |
Description
ADPRHL1 encodes a member of the ADP-ribosylhydrolase family. The protein catalyzes the hydrolysis of poly(ADP-ribose) to ADP-ribose, playing a role in the regulation of ADP-ribosylation, a post-translational modification involved in DNA repair, chromatin remodeling, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Brain | 0.5 | Low |
| Heart | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Very low expression |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • ADP-ribosylhydrolase activity | • poly(ADP-ribose) binding |
| • hydrolase activity |
Pathways
• Metabolism of poly(ADP-ribose)
Protein Summary
ADPRHL1 is a 363-amino acid protein that belongs to the ADP-ribosylhydrolase family. It localizes to the nucleus and cytoplasm and is involved in the catabolism of poly(ADP-ribose) chains, thereby modulating cellular ADP-ribosylation dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADPRHL1 Knockout HEK293 Cell Line | EDJ-KQ7427 | Human | 113622 | Details Get a Quote |
| ADPRHL1 Knockout A-549 Cell Line | EDJ-KQ32625 | Human | 113622 | Details Get a Quote |
| ADPRHL1 Knockout HCT 116 Cell Line | EDJ-KQ32626 | Human | 113622 | Details Get a Quote |
| ADPRHL1 Knockout HeLa Cell Line | EDJ-KQ32627 | Human | 113622 | Details Get a Quote |
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