AQR (Aquarius Intron-Binding Spliceosomal Factor)
A key component of the spliceosome involved in pre-mRNA splicing and genome stability
Gene Information Card
| Symbol | AQR |
|---|---|
| Full Name | Aquarius intron-binding spliceosomal factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 9716 ncbi.nlm.nih.gov/gene/9716 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | O60306 |
| OMIM ID | 605592 |
| HGNC ID | 24013 |
| Aliases | KIAA0560, ZNF231, FUN61 |
Description
The AQR gene encodes a protein that is a component of the spliceosome, specifically involved in the recognition and binding of intronic sequences during pre-mRNA splicing. It plays a role in the second catalytic step of splicing and is also implicated in DNA repair and maintenance of genome stability. The protein contains a zinc finger domain and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations in AQR may alter splicing fidelity, contributing to tumorigenesis | COSMIC |
| Breast cancer | Overexpression or mutation of AQR linked to genomic instability | COSMIC |
| Lung cancer | Recurrent mutations in AQR observed in lung adenocarcinoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Brain | 18.7 | Medium |
| Lung | 12.4 | Low |
| Colon | 11.8 | Low |
| Breast | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.5 | Embryonic kidney |
| HeLa | 18.2 | Cervical carcinoma |
| A549 | 15.1 | Lung carcinoma |
| MCF7 | 12.8 | Breast carcinoma |
| HCT116 | 11.4 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg722Trp | Missense | <1% | Unknown; predicted damaging |
| p.Glu1045Lys | Missense | <1% | Unknown; predicted benign |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function |
| p.Leu1230Pro | Missense | <0.1% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of function, impairing splicing and genomic stability.
Gain of Function (GOF)
No evidence of gain-of-function mutations in AQR.
Dominant Negative (DN)
No evidence of dominant-negative effects for AQR mutations.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • zinc ion binding (GO:0008270) | • nucleus (GO:0005634) |
| • RNA binding (GO:0003723) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The AQR protein (UniProt O60306) is a 1489-amino acid component of the spliceosome, containing a zinc finger domain. It binds to intronic sequences and facilitates the second catalytic step of pre-mRNA splicing. The protein is localized to the nucleus and is involved in maintaining genome stability through its role in splicing and potential DNA repair functions.
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