NT5C1B-RDH14 Gene: Structure, Expression, and Clinical Significance | Biomedical Resource

NT5C1B-RDH14 is a readthrough transcript that arises from the natural fusion of two adjacent genes on chromosome 14: NT5C1B (5'-nucleotidase, cytosolic IB) and RDH14 (retinol dehydrogenase 14). This locus produces a chimeric mRNA that is predicted to be a candidate for nonsense-mediated decay (NMD), suggesting that the fusion transcript may not yield a stable protein product. The individual genes encode proteins involved in nucleotide metabolism (NT5C1B) and retinol metabolism (RDH14), respectively. The readthrough transcript is expressed in various tissues, but its functional significance remains largely unexplored. This gene is listed in the HGNC database as a readthrough locus, and its existence is supported by transcript evidence in Ensembl and NCBI.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• No specific pathways associated with the readthrough transcript. Individual genes may participate in nucleotide metabolism (NT5C1B) and retinol metabolism (RDH14).

The NT5C1B-RDH14 readthrough transcript is predicted to encode a fusion protein that combines the N-terminal region of NT5C1B with the C-terminal region of RDH14. However, due to the presence of a premature stop codon, the transcript is a candidate for nonsense-mediated decay, and thus the protein may not be expressed in vivo. If expressed, the protein could potentially have altered enzymatic activities, but no experimental evidence is available.