ATXN3L
Ataxin 3 Like
Gene Information Card
| Symbol | ATXN3L |
|---|---|
| Full Name | Ataxin 3 Like |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 100130502 ncbi.nlm.nih.gov/gene/100130502 |
| Ensembl ID | ENSG00000204099 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 300854 |
| HGNC ID | 33820 |
| Aliases | ATXN3L1, ATXN3L2, dJ63E11.1 |
Description
ATXN3L (Ataxin 3 Like) is a protein coding gene located on chromosome Xq22.1. It encodes a deubiquitinating enzyme with a Josephin domain, similar to ATXN3. The protein is involved in ubiquitin-dependent proteolysis and may play a role in protein quality control. Expression is enriched in testis and certain brain regions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 3 (Machado-Joseph disease) | ATXN3L shares homology with ATXN3; expanded polyQ repeats in ATXN3 cause disease, but ATXN3L does not contain a polyQ tract and is not directly implicated. | No direct evidence; homology-based inference from NCBI and OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain - cerebellum | 5.2 | Low |
| Brain - frontal cortex | 3.8 | Low |
| Heart | 1.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.1 | Moderate expression |
| HeLa | 4.3 | Low expression |
| K562 | 2.0 | Low expression |
| HepG2 | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin-proteasome pathway
Protein Summary
ATXN3L encodes a 364-amino acid protein (UniProt Q5VUJ9) containing a Josephin domain characteristic of deubiquitinating enzymes. It shares structural similarity with ataxin-3 but lacks the polyglutamine tract. The protein is localized to the nucleus and cytoplasm and is involved in ubiquitin-dependent protein degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN3L Knockout HEK293 Cell Line | EDJ-KQ10971 | Human | 92552 | Details Get a Quote |
| ATXN3L Knockout HeLa Cell Line | EDJ-KQ57842 | Human | 92552 | Details Get a Quote |
| ATXN3L Knockout A-549 Cell Line | EDJ-KQ66338 | Human | 92552 | Details Get a Quote |
| ATXN3L Knockout HCT 116 Cell Line | EDJ-KQ74764 | Human | 92552 | Details Get a Quote |
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