AGBL3
ATP/GTP Binding Protein Like 3
Gene Information Card
| Symbol | AGBL3 |
|---|---|
| Full Name | ATP/GTP Binding Protein Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 440059 ncbi.nlm.nih.gov/gene/440059 |
| Ensembl ID | ENSG00000146540 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615496 |
| HGNC ID | 26166 |
| Aliases | CCP3, ATP/GTP binding protein-like 3, cytosolic carboxypeptidase 3 |
Description
AGBL3 (ATP/GTP Binding Protein Like 3) is a protein-coding gene located on chromosome 7q33. It encodes a member of the cytosolic carboxypeptidase (CCP) family, also known as CCP3. The protein functions as a metallocarboxypeptidase that removes C-terminal glutamates from tubulin, thereby regulating microtubule stability and dynamics. AGBL3 is involved in post-translational modification of tubulin and may play roles in neuronal function and cell cycle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Potential role in ciliary microtubule modification; loss of function may disrupt photoreceptor structure | Limited; inferred from tubulin deglutamylation studies |
| Neurodegenerative disorders | Altered tubulin glutamylation affects neuronal microtubule stability | Indirect; based on functional homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| SH-SY5Y | 18.4 | Higher expression in neuronal line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Likely loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function by truncating the protein, impairing tubulin deglutamylation.
Gain of Function (GOF)
No gain-of-function mutations reported for AGBL3.
Dominant Negative (DN)
No dominant-negative mutations reported for AGBL3.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity | • tubulin binding |
| • protein C-terminal glutamyl amino acid removal | • microtubule depolymerization |
| • cytoplasm | • cytosol |
Pathways
• Tubulin post-translational modification
• Microtubule dynamics
Protein Summary
AGBL3 (CCP3) is a cytosolic carboxypeptidase that specifically removes polyglutamate chains from the C-terminal tails of tubulin. This deglutamylation activity is critical for regulating microtubule stability, neuronal function, and ciliary maintenance. The protein is expressed in brain and testis, with lower levels in other tissues. Mutations that truncate the protein are predicted to disrupt tubulin modification and may contribute to ciliopathies or neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGBL3 Knockout HEK293 Cell Line | EDJ-KQ11548 | Human | 340351 | Details Get a Quote |
| AGBL3 Knockout A-549 Cell Line | EDJ-KQ41129 | Human | 340351 | Details Get a Quote |
| AGBL3 Knockout HCT 116 Cell Line | EDJ-KQ41131 | Human | 340351 | Details Get a Quote |
| AGBL3 Knockout HeLa Cell Line | EDJ-KQ41132 | Human | 340351 | Details Get a Quote |
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