AGBL5
ATP/GTP Binding Protein Like 5
Gene Information Card
| Symbol | AGBL5 |
|---|---|
| Full Name | ATP/GTP Binding Protein Like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 60509 ncbi.nlm.nih.gov/gene/60509 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8NDL9 |
| OMIM ID | 615900 |
| HGNC ID | 26160 |
| Aliases | CCP5, dJ1009E9.1 |
Description
AGBL5 (ATP/GTP Binding Protein Like 5) encodes a member of the cytosolic carboxypeptidase (CCP) family. The protein functions as a tubulin deglutamylase, removing polyglutamate side chains from tubulin and other proteins, thereby regulating microtubule stability and function. Mutations in AGBL5 are associated with autosomal recessive retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations in AGBL5 impair tubulin deglutamylation, leading to photoreceptor degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Eye | 7.1 | Medium |
| Kidney | 5.6 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Likely damaging; reported in retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity (GO:0004181) | • tubulin binding (GO:0015631) |
| • protein deglutamylation (GO:0035607) | • cytoplasm (GO:0005737) |
| • microtubule (GO:0005874) |
Pathways
• Tubulin deglutamylation
• Microtubule organization
Protein Summary
AGBL5 (CCP5) is a 562-amino-acid cytosolic carboxypeptidase that specifically removes polyglutamate chains from the C-terminal tails of tubulin. This deglutamylase activity is critical for normal microtubule dynamics and neuronal function. The protein is expressed in multiple tissues, with highest levels in testis and brain. Loss of function leads to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGBL5 Knockout HEK293 Cell Line | EDJ-KQ12306 | Human | 60509 | Details Get a Quote |
| AGBL5 Knockout A-549 Cell Line | EDJ-KQ41133 | Human | 60509 | Details Get a Quote |
| AGBL5 Knockout HCT 116 Cell Line | EDJ-KQ41134 | Human | 60509 | Details Get a Quote |
| AGBL5 Knockout HeLa Cell Line | EDJ-KQ41135 | Human | 60509 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
