RPS10-NUDT3 readthrough (NUDT3)
A readthrough transcript encoding a fusion protein of ribosomal protein S10 and Nudix hydrolase 3
Gene Information Card
| Symbol | RPS10-NUDT3 |
|---|---|
| Full Name | RPS10-NUDT3 readthrough (NUDT3) |
| Gene Type | readthrough (protein-coding) |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | O95989 |
| OMIM ID | 617827 |
| HGNC ID | 44249 |
| Aliases | RPS10-NUDT3 readthrough, NUDT3 |
Description
RPS10-NUDT3 is a readthrough gene located on chromosome 6p21.31. It produces a naturally occurring readthrough transcript that fuses exons from the upstream RPS10 gene (ribosomal protein S10) with the downstream NUDT3 gene (nudix hydrolase 3). The resulting mRNA is translated into a protein that is essentially identical to NUDT3, as the RPS10 portion is not translated due to a stop codon in the readthrough junction. NUDT3 encodes a Nudix hydrolase that cleaves diphosphate bonds in substrates such as diphosphoinositol polyphosphates and mRNA cap analogs, playing roles in mRNA decapping and phosphate metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 7.9 | Low expression |
| K562 | 6.5 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data:
Gene Ontology (GO)
Pathways
• mRNA decapping (Reactome: R-HSA-429958)
• Purine metabolism (KEGG: hsa00230)
Protein Summary
The RPS10-NUDT3 readthrough transcript produces a protein that is functionally identical to NUDT3 (UniProt O95989). NUDT3 is a 172-amino acid Nudix hydrolase that catalyzes the hydrolysis of diphosphate bonds in various substrates, including diphosphoinositol polyphosphates and mRNA cap analogs (e.g., m7GpppN). It is involved in mRNA decapping and phosphate metabolism. The protein contains a Nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue) essential for its catalytic activity. It is localized in the cytoplasm and cytosol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS10-NUDT3 Knockout HEK293 Cell Line | EDJ-KQ52495 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout HeLa Cell Line | EDJ-KQ60958 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout A-549 Cell Line | EDJ-KQ69433 | Human | 100529239 | Details Get a Quote |
| RPS10-NUDT3 Knockout HCT 116 Cell Line | EDJ-KQ77784 | Human | 100529239 | Details Get a Quote |