ERI1: Exoribonuclease 1
A 3'-5' exoribonuclease involved in RNA metabolism, histone mRNA processing, and regulation of gene expression.
Gene Information Card
| Symbol | ERI1 |
|---|---|
| Full Name | Exoribonuclease 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 90459 ncbi.nlm.nih.gov/gene/90459 |
| Ensembl ID | ENSG00000104626 |
| UniProt ID | Q8IV48 |
| OMIM ID | 609029 |
| HGNC ID | HGNC:15982 |
| Aliases | 3' exoribonuclease, ERI-1, HEXO1, 3'hExo |
Description
ERI1 encodes a 3'-5' exoribonuclease that processes the 3' ends of replication-dependent histone mRNAs, degrades RNA in the cytoplasm, and participates in RNA interference pathways. It is involved in cell cycle regulation and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of RNA metabolism and histone mRNA processing | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodevelopmental disorders | Loss-of-function mutations impair RNA processing | ClinVar records pathogenic variants associated with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 6.8 | Leukemia cells |
| HepG2 | 5.1 | Liver cancer cells |
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.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of function |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing exoribonuclease activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5' exoribonuclease activity | • RNA binding |
| • nucleic acid binding | • cytoplasm |
| • nucleus | • histone mRNA catabolic process |
| • RNA processing | • gene silencing by RNA |
Pathways
• Histone mRNA 3' end processing
• RNA degradation
Protein Summary
ERI1 is a 3'-5' exoribonuclease that processes the 3' ends of replication-dependent histone mRNAs, degrades RNA in the cytoplasm, and participates in RNA interference pathways. It is involved in cell cycle regulation and has been implicated in cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERI1 Knockout HEK293 Cell Line | EDJ-KQ10603 | Human | 90459 | Details Get a Quote |
| ERI1 Knockout A-549 Cell Line | EDJ-KQ38084 | Human | 90459 | Details Get a Quote |
| ERI1 Knockout HeLa Cell Line | EDJ-KQ38086 | Human | 90459 | Details Get a Quote |
| ERI1 Knockout HCT 116 Cell Line | EDJ-KQ36780 | Human | 90459 | Details Get a Quote |
