ATXN7L1 Gene
Ataxin 7 Like 1: A Component of the SAGA Complex Involved in Transcriptional Regulation
Gene Information Card
| Symbol | ATXN7L1 |
|---|---|
| Full Name | Ataxin 7 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.3 |
| NCBI Gene ID | 222255 ncbi.nlm.nih.gov/gene/222255 |
| Ensembl ID | ENSG00000146587 |
| UniProt ID | Q9ULK2 |
| OMIM ID | 609950 |
| HGNC ID | 29361 |
| Aliases | SCA7L, ATXN7L, MGC10731 |
Description
ATXN7L1 (Ataxin 7 Like 1) is a protein-coding gene that encodes a component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) complex, a multiprotein complex involved in transcriptional regulation through histone acetylation and deubiquitination. The protein shares homology with ataxin 7, the product of the gene mutated in spinocerebellar ataxia type 7 (SCA7). ATXN7L1 is ubiquitously expressed and plays a role in chromatin remodeling and gene activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 7 (SCA7) | ATXN7L1 is a paralog of ATXN7; expanded polyglutamine tracts in ATXN7 cause SCA7, but ATXN7L1 is not directly implicated in the disease. | No direct evidence; homology-based inference from NCBI and OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Liver | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.4 | 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% | Predicted loss of function |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in ATXN7L1.
Dominant Negative (DN)
No dominant-negative mutations reported in ATXN7L1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SAGA complex pathway (Reactome: R-HSA-3322076)
• Chromatin modifying enzymes (KEGG: hsa05203)
Protein Summary
ATXN7L1 is a 945-amino acid protein with a molecular weight of approximately 105 kDa. It contains an SCA7 domain (ataxin-7 homology region) and interacts with other SAGA complex subunits such as GCN5 and TAF5L. The protein is localized to the nucleus and participates in histone deubiquitination and acetylation, thereby regulating gene expression. Its expression is highest in testis and cerebellum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN7L1 Knockout HEK293 Cell Line | EDJ-KQ9003 | Human | 222255 | Details Get a Quote |
| ATXN7L1 Knockout A-549 Cell Line | EDJ-KQ35442 | Human | 222255 | Details Get a Quote |
| ATXN7L1 Knockout HCT 116 Cell Line | EDJ-KQ35443 | Human | 222255 | Details Get a Quote |
| ATXN7L1 Knockout HeLa Cell Line | EDJ-KQ35444 | Human | 222255 | Details Get a Quote |
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