ADPRM (ADP-Ribose/Mg²⁺-Dependent Poly(A) Ribonuclease)
Gene encoding a ribonuclease involved in RNA metabolism and potential links to neurological disorders
Gene Information Card
| Symbol | ADPRM |
|---|---|
| Full Name | ADP-ribose/Mg²⁺-dependent poly(A) ribonuclease |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 56985 ncbi.nlm.nih.gov/gene/56985 |
| Ensembl ID | ENSG00000108784 |
| UniProt ID | Q9NX46 |
| OMIM ID | 617084 |
| HGNC ID | 21310 |
| Aliases | C17orf63, MGC13170, ADPRibase-Mg |
Description
ADPRM encodes a ribonuclease that specifically cleaves poly(A) tails of RNA in an ADP-ribose and magnesium-dependent manner. The enzyme is involved in RNA metabolism, particularly in the regulation of mRNA stability and turnover. Mutations in ADPRM have been associated with neurological phenotypes, including developmental delay and seizures.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with seizures and developmental delay | Loss-of-function mutations impair RNA poly(A) tail degradation, leading to dysregulated RNA metabolism | ClinVar, OMIM #617084 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| SH-SY5Y | 8.7 | Neuronal cell line |
| HeLa | 6.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish ribonuclease activity are associated with neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004518 (nuclease activity) | • GO:0003723 (RNA binding) |
| • GO:0000287 (magnesium ion binding) | • GO:0006397 (mRNA processing) |
| • GO:0006401 (RNA catabolic process) |
Pathways
• RNA degradation (Reactome: R-HSA-8953854)
• mRNA decay by 3' to 5' exoribonuclease
Protein Summary
ADPRM is a 369-amino acid protein that functions as a magnesium-dependent endoribonuclease specific for poly(A) sequences. It localizes to the cytoplasm and is involved in the regulation of mRNA stability. The protein contains a conserved nuclease domain and requires ADP-ribose as a cofactor for optimal activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADPRM Knockout HEK293 Cell Line | EDJ-KQ12296 | Human | 56985 | Details Get a Quote |
| ADPRM Knockout A-549 Cell Line | EDJ-KQ41106 | Human | 56985 | Details Get a Quote |
| ADPRM Knockout HCT 116 Cell Line | EDJ-KQ41107 | Human | 56985 | Details Get a Quote |
| ADPRM Knockout HeLa Cell Line | EDJ-KQ41108 | Human | 56985 | Details Get a Quote |
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