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

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 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
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