ERI3: Exoribonuclease 3, 3'-5' Exoribonuclease Family Member
A key RNA processing enzyme involved in mRNA decay and quality control
Gene Information Card
| Symbol | ERI3 |
|---|---|
| Full Name | Exoribonuclease 3, 3'-5' Exoribonuclease Family Member |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 79033 ncbi.nlm.nih.gov/gene/79033 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9H1H9 |
| OMIM ID | 618571 |
| HGNC ID | 28673 |
| Aliases | PRNPIP, PIRI, EXOSC10L, 3'-5' exoribonuclease 3 |
Description
ERI3 encodes a 3'-5' exoribonuclease that belongs to the DEDD superfamily of exonucleases. The protein is involved in RNA metabolism, specifically in the degradation of RNA substrates, including mRNA decay and quality control pathways. It interacts with the exosome complex and plays a role in processing of structured RNAs. ERI3 is ubiquitously expressed with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair RNA processing leading to neuronal dysfunction | ClinVar, OMIM |
| Cancer (pan-cancer) | Altered expression and somatic mutations may affect RNA stability and gene expression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Medium expression |
| HeLa | 7.5 | Medium expression |
| K562 | 6.2 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing RNA degradation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA degradation (KEGG: hsa03018)
• mRNA surveillance pathway (KEGG: hsa03015)
• Exosome complex pathway (Reactome: R-HSA-73886)
Protein Summary
ERI3 is a 3'-5' exoribonuclease that degrades RNA substrates from the 3' end. It is a component of the exosome complex and participates in RNA quality control, processing of ribosomal RNA, and degradation of defective mRNAs. The protein contains a DEDD catalytic domain essential for exonuclease activity. Mutations in ERI3 are associated with neurodevelopmental disorders and have been implicated in cancer through altered RNA metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERI3 Knockout HEK293 Cell Line | EDJ-KQ13316 | Human | 79033 | Details Get a Quote |
| ERI3 Knockout A-549 Cell Line | EDJ-KQ42780 | Human | 79033 | Details Get a Quote |
| ERI3 Knockout HCT 116 Cell Line | EDJ-KQ42781 | Human | 79033 | Details Get a Quote |
| ERI3 Knockout HeLa Cell Line | EDJ-KQ42782 | Human | 79033 | Details Get a Quote |
