STON1-GTF2A1L readthrough gene
A readthrough transcript encoding a fusion protein of STON1 and GTF2A1L, involved in transcriptional regulation and endocytosis.
Gene Information Card
| Symbol | STON1-GTF2A1L |
|---|---|
| Full Name | STON1-GTF2A1L readthrough (NMD candidate) |
| Gene Type | readthrough (protein-coding) |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | - |
| HGNC ID | HGNC:44249 |
| Aliases | STON1-GTF2A1L, STON1//GTF2A1L |
Description
STON1-GTF2A1L is a readthrough gene located on chromosome 7q22.1, resulting from the natural readthrough of the STON1 and GTF2A1L genes. The readthrough transcript produces a fusion protein that combines domains from stonin-1 (involved in endocytosis) and general transcription factor IIA subunit 1-like (involved in transcription initiation). This gene is a candidate for nonsense-mediated decay (NMD), and its biological significance is under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | - | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| K562 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Protein Summary
The STON1-GTF2A1L readthrough protein is a fusion of stonin-1 and general transcription factor IIA subunit 1-like. Stonin-1 is involved in clathrin-mediated endocytosis, while GTF2A1L is a testis-specific transcription factor. The fusion protein may have altered or combined functions, but its exact role remains uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STON1-GTF2A1L Knockout HEK293 Cell Line | EDJ-KQ52224 | Human | 286749 | Details Get a Quote |
| STON1-GTF2A1L Knockout HeLa Cell Line | EDJ-KQ59563 | Human | 286749 | Details Get a Quote |
| STON1-GTF2A1L Knockout A-549 Cell Line | EDJ-KQ68029 | Human | 286749 | Details Get a Quote |
| STON1-GTF2A1L Knockout HCT 116 Cell Line | EDJ-KQ76409 | Human | 286749 | Details Get a Quote |
