AGBL4
ATP/GTP Binding Protein Like 4
Gene Information Card
| Symbol | AGBL4 |
|---|---|
| Full Name | ATP/GTP Binding Protein Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 84809 ncbi.nlm.nih.gov/gene/84809 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q5VU57 |
| OMIM ID | 616476 |
| HGNC ID | 28225 |
| Aliases | CCP4, FLJ90013 |
Description
AGBL4 (ATP/GTP Binding Protein Like 4) is a protein-coding gene that encodes a member of the cytosolic carboxypeptidase (CCP) family. The encoded protein functions as a deglutamylase, removing polyglutamate side chains from tubulin and other proteins, thereby regulating microtubule stability and function. AGBL4 is expressed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss of AGBL4 function may disrupt ciliary microtubule dynamics in photoreceptor cells, leading to retinal degeneration. | ClinVar; PMID: 25262649 |
| Hereditary spastic paraplegia | Mutations in AGBL4 are associated with impaired axonal transport due to altered tubulin deglutamylation. | OMIM; PMID: 25262649 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.0 | Not detected |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuroblastoma cell line |
| HeLa | 4.5 | Cervical carcinoma |
| HEK293 | 2.0 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1522C>T (p.Arg508*) | Nonsense | <0.01% | Loss of function; associated with retinitis pigmentosa |
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not documented for AGBL4.
View complete mutation data：
Gene Ontology (GO)
| • Metallocarboxypeptidase activity (GO:0004181) | • Tubulin binding (GO:0015631) |
| • Cytoplasm (GO:0005737) | • Microtubule (GO:0005874) |
| • Protein deglutamylation (GO:0035607) |
Pathways
• Tubulin deglutamylation
• Microtubule cytoskeleton organization
Protein Summary
AGBL4 encodes a cytosolic carboxypeptidase (CCP4) that catalyzes the removal of polyglutamate side chains from tubulin and other substrates. This deglutamylation activity is critical for regulating microtubule dynamics, neuronal function, and ciliary stability. The protein is predominantly expressed in brain and testis, and mutations are linked to neurodegenerative and retinal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGBL4 Knockout HEK293 Cell Line | EDJ-KQ10232 | Human | 84871 | Details Get a Quote |
| AGBL4 Knockout HeLa Cell Line | EDJ-KQ57673 | Human | 84871 | Details Get a Quote |
| AGBL4 Knockout A-549 Cell Line | EDJ-KQ66172 | Human | 84871 | Details Get a Quote |
| AGBL4 Knockout HCT 116 Cell Line | EDJ-KQ74599 | Human | 84871 | Details Get a Quote |
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