ATN1 (Atrophin 1) Gene
A comprehensive guide to ATN1, its function, associated diseases, and clinical significance.
Gene Information Card
| Symbol | ATN1 |
|---|---|
| Full Name | Atrophin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 1822 ncbi.nlm.nih.gov/gene/1822 |
| Ensembl ID | ENSG00000111676 |
| UniProt ID | P54259 |
| OMIM ID | 607462 |
| HGNC ID | 793 |
| Aliases | DRPLA, B37, D12S755E, HRS, NOD, TNRC1 |
Description
The ATN1 gene encodes atrophin 1, a protein involved in transcriptional regulation and nuclear receptor co-repression. It contains a polymorphic CAG repeat in the coding region; expansion beyond the normal range causes dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disorder. The protein interacts with other nuclear proteins and plays roles in development and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dentatorubral-pallidoluysian atrophy (DRPLA) | Expansion of CAG trinucleotide repeat in ATN1 leads to an extended polyglutamine tract in atrophin 1, causing protein aggregation and neuronal dysfunction. | ClinVar, OMIM |
| Haw River syndrome | A variant of DRPLA with similar CAG repeat expansion, reported in an African American family. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; relevant for neuronal studies |
| HeLa (cervical carcinoma) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CAG repeat expansion (normal 6-35; pathogenic >48) | Trinucleotide repeat expansion | Variable; pathogenic in DRPLA | Gain of toxic function; protein aggregation |
| c.2935C>T (p.Arg979Ter) | Nonsense | Rare | Loss of function; not associated with DRPLA |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense mutations may reduce atrophin 1 levels, but no clear disease association.
Gain of Function (GOF)
CAG repeat expansion leads to a toxic gain-of-function via polyglutamine aggregation.
Dominant Negative (DN)
Not established for ATN1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:212436 - Transcriptional regulation by RUNX1
• WP:WP4754 - Dentatorubral-pallidoluysian atrophy pathway
Protein Summary
Atrophin 1 is a 1185-amino acid nuclear protein with a conserved atrophin-1 family domain. It functions as a transcriptional corepressor, interacting with nuclear receptors and other transcription factors. The protein contains a polyglutamine tract near the N-terminus; expansion beyond 48 repeats causes DRPLA. Atrophin 1 is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATN1 Knockout HEK293 Cell Line | EDJ-KQ1679 | Human | 1822 | Details Get a Quote |
| ATN1 Knockout A-549 Cell Line | EDJ-KQ22781 | Human | 1822 | Details Get a Quote |
| ATN1 Knockout HCT 116 Cell Line | EDJ-KQ22782 | Human | 1822 | Details Get a Quote |
| ATN1 Knockout HeLa Cell Line | EDJ-KQ22783 | Human | 1822 | Details Get a Quote |
