ENDOU (Endonuclease, Poly(U) Specific)
A gene encoding a uridine-specific endoribonuclease involved in RNA processing and potential roles in cancer and viral defense.
Gene Information Card
| Symbol | ENDOU |
|---|---|
| Full Name | Endonuclease, Poly(U) Specific |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 8909 ncbi.nlm.nih.gov/gene/8909 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9BQ52 |
| OMIM ID | 606846 |
| HGNC ID | 18289 |
| Aliases | PP11, PLAC1L, hPP11, endonuclease poly(U) specific |
Description
ENDOU encodes a uridine-specific endoribonuclease that cleaves RNA at poly(U) sequences. The protein is involved in RNA metabolism, including processing of non-coding RNAs and mRNA turnover. It has been implicated in placental development and is aberrantly expressed in various cancers, where it may influence tumor progression and immune evasion. Additionally, ENDOU has been studied for its role in antiviral defense by degrading viral RNA.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Aberrant expression of ENDOU may promote tumor growth and metastasis through altered RNA processing and immune modulation. | NCBI Gene, COSMIC |
| Placental dysfunction | ENDOU is highly expressed in placenta; dysregulation may contribute to pregnancy-related disorders. | OMIM, UniProt |
| Viral infections | ENDOU can degrade viral RNA, potentially limiting replication of certain RNA viruses. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 45.2 | High |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Kidney | 6.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line |
| A549 | 10.2 | Lung cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
| MCF7 | 5.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325G>A (p.Gly109Arg) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.602_603del (p.Leu201fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu201fs) are predicted to result in a truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ENDOU.
Dominant Negative (DN)
No dominant-negative mutations have been described for ENDOU.
View complete mutation data：
Gene Ontology (GO)
| • Endonuclease activity (GO:0004519) | • RNA binding (GO:0003723) |
| • Uridine-specific endoribonuclease activity (GO:1990837) | • Nucleus (GO:0005634) |
| • Cytoplasm (GO:0005737) |
Pathways
• RNA degradation (Reactome: R-HSA-8953854)
• Metabolism of RNA (Reactome: R-HSA-8953854)
Protein Summary
ENDOU is a 55 kDa protein that specifically cleaves RNA at poly(U) tracts, generating 3'-phosphate ends. It is localized to both the nucleus and cytoplasm and is highly expressed in placenta. The protein contains a conserved endonuclease domain and is involved in RNA turnover, including processing of small non-coding RNAs. Its expression is upregulated in several cancers, suggesting a role in tumor biology. ENDOU also exhibits antiviral activity by targeting viral RNA for degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ENDOU Knockout HEK293 Cell Line | EDJ-KQ6394 | Human | 8909 | Details Get a Quote |
| ENDOU Knockout HeLa Cell Line | EDJ-KQ55032 | Human | 8909 | Details Get a Quote |
| ENDOU Knockout A-549 Cell Line | EDJ-KQ63517 | Human | 8909 | Details Get a Quote |
| ENDOU Knockout HCT 116 Cell Line | EDJ-KQ71984 | Human | 8909 | Details Get a Quote |
