ATXN1L (Ataxin 1 Like)
A gene encoding a protein with similarity to ataxin-1, involved in transcriptional regulation and RNA processing.
Gene Information Card
| Symbol | ATXN1L |
|---|---|
| Full Name | Ataxin 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.2 |
| NCBI Gene ID | 342371 ncbi.nlm.nih.gov/gene/342371 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q8N4S6 |
| OMIM ID | 614596 |
| HGNC ID | 28469 |
| Aliases | ATX1L, BOAT, BOAT1, FLJ38975 |
Description
ATXN1L (Ataxin 1 Like) is a protein-coding gene located on chromosome 16q22.2. The encoded protein shares structural similarity with ataxin-1 (ATXN1) and is involved in transcriptional regulation and RNA processing. It is expressed in various tissues and may play a role in cellular signaling and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia (potential modifier) | ATXN1L may interact with ATXN1 pathways; altered expression could modify disease severity | Limited; inferred from homology and interaction studies (NCBI, OMIM) |
| Cancer (various) | Dysregulation of ATXN1L expression observed in some tumor types | COSMIC database reports somatic mutations in colorectal and lung cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; likely loss of function |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) are predicted to cause loss of function via nonsense-mediated decay.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ATXN1L.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • transcription regulator activity | • RNA binding |
| • nucleus | • cytoplasm |
| • protein binding |
Pathways
• RNA processing
• Transcriptional regulation
Protein Summary
The ATXN1L protein (UniProt Q8N4S6) is a 689-amino acid protein containing a polyglutamine tract and an AXH domain, similar to ataxin-1. It localizes to the nucleus and cytoplasm, binds RNA, and modulates transcription. Its precise cellular functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN1L Knockout HEK293 Cell Line | EDJ-KQ12490 | Human | 342371 | Details Get a Quote |
| ATXN1L Knockout A-549 Cell Line | EDJ-KQ41456 | Human | 342371 | Details Get a Quote |
| ATXN1L Knockout HCT 116 Cell Line | EDJ-KQ41457 | Human | 342371 | Details Get a Quote |
| ATXN1L Knockout HeLa Cell Line | EDJ-KQ41458 | Human | 342371 | Details Get a Quote |
