ATXN7L3B Gene
Ataxin 7 Like 3B: A Component of the SAGA Complex and Its Role in Gene Regulation
Gene Information Card
| Symbol | ATXN7L3B |
|---|---|
| Full Name | Ataxin 7 Like 3B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q5SYB0 |
| OMIM ID | 615905 |
| HGNC ID | 37232 |
| Aliases | C12orf66, FLJ39653 |
Description
ATXN7L3B (Ataxin 7 Like 3B) is a protein-coding gene that encodes a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) transcriptional coactivator complex. The SAGA complex is involved in chromatin remodeling, histone acetylation, and deubiquitination, playing a critical role in transcriptional regulation. ATXN7L3B is part of the deubiquitination module of SAGA, which removes ubiquitin from histone H2B, thereby influencing gene expression. The gene is located on chromosome 12q24.31 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia (potential) | ATXN7L3B is a paralog of ATXN7, which is mutated in spinocerebellar ataxia type 7 (SCA7). Disruption of the SAGA complex may contribute to neurodegeneration. | Limited evidence; inferred from homology and functional studies. |
| Cancer (general) | Altered expression of SAGA complex components, including ATXN7L3B, may affect chromatin regulation and contribute to oncogenesis. | Inferred from pathway involvement; no direct mutation data in COSMIC. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 6.8 | Low |
| Heart | 4.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Embryonic kidney cells; moderate expression |
| HeLa | 6.2 | Cervical cancer cells; low expression |
| K562 | 4.8 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Not reported | Predicted to affect start codon; likely loss of function |
| c.100C>T | Nonsense | Not reported | Predicted to introduce premature stop codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations that truncate the protein, disrupting SAGA complex deubiquitination activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Potential if mutant ATXN7L3B interferes with SAGA complex assembly, but not experimentally confirmed.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003712 (GO:0003712) | • GO:0005634 (GO:0005634) |
| • GO:0006325 (GO:0006325) | • GO:0000122 (GO:0000122) |
| • GO:0004843 (GO:0004843) |
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3244103)
• Deubiquitination (Reactome: R-HSA-5688426)
Protein Summary
ATXN7L3B is a 374-amino acid protein that contains a zinc finger domain and is localized to the nucleus. It functions as a component of the SAGA complex's deubiquitination module, specifically interacting with USP22 and ENY2 to remove ubiquitin from histone H2B at lysine 120. This activity is essential for proper transcriptional elongation and gene activation. The protein shares homology with ATXN7L3 and ATXN7, which are associated with neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATXN7L3B Knockout HEK293 Cell Line | EDJ-KQ12493 | Human | 552889 | Details Get a Quote |
| ATXN7L3B Knockout A-549 Cell Line | EDJ-KQ40176 | Human | 552889 | Details Get a Quote |
| ATXN7L3B Knockout HCT 116 Cell Line | EDJ-KQ41462 | Human | 552889 | Details Get a Quote |
| ATXN7L3B Knockout HeLa Cell Line | EDJ-KQ41463 | Human | 552889 | Details Get a Quote |
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