AGTPBP1 Gene (ATP/GTP Binding Protein 1)
A cytosolic carboxypeptidase involved in tubulin deglutamylation and neurodegeneration
Gene Information Card
| Symbol | AGTPBP1 |
|---|---|
| Full Name | ATP/GTP Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.33 |
| NCBI Gene ID | 23287 ncbi.nlm.nih.gov/gene/23287 |
| Ensembl ID | ENSG00000135049 |
| UniProt ID | Q9UPW5 |
| OMIM ID | 606830 |
| HGNC ID | 17258 |
| Aliases | CCP1, NNA1, KIAA0821, CCP-1, AGTPBP1 |
Description
AGTPBP1 encodes a cytosolic carboxypeptidase (CCP1) that removes polyglutamate side chains from tubulin and other proteins. It is essential for normal neuronal function and survival. Loss-of-function mutations cause Purkinje cell degeneration in mice and are linked to human neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia (possible) | Loss of CCP1 activity leads to abnormal tubulin polyglutamylation and neuronal degeneration | ClinVar: pathogenic variants reported in patients with ataxia |
| Purkinje cell degeneration (mouse model) | Homozygous deletion of Agtpbp1 causes progressive loss of Purkinje cells | OMIM: 606830; mouse model pcd |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 5.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HeLa (cervical carcinoma) | 6.8 | Epithelial |
| HEK293 (embryonic kidney) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1790G>A (p.Arg597Gln) | Missense | Rare | Likely loss of function; associated with ataxia |
| c.2086C>T (p.Arg696*) | Nonsense | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and start-loss variants reduce or abolish CCP1 enzymatic activity, leading to tubulin hyperglutamylation and neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • metallocarboxypeptidase activity | • tubulin binding |
| • protein deglutamylation | • cytosol |
| • cytoplasm | • neuronal cell body |
Pathways
• Tubulin deglutamylation
• Cytoskeleton organization
Protein Summary
AGTPBP1 encodes CCP1, a 1226-amino-acid cytosolic carboxypeptidase that removes polyglutamate chains from tubulin. It is highly expressed in brain and testis. Loss of function disrupts microtubule stability and causes Purkinje cell degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGTPBP1 Knockout HEK293 Cell Line | EDJ-KQ7265 | Human | 23287 | Details Get a Quote |
| AGTPBP1 Knockout A-549 Cell Line | EDJ-KQ33611 | Human | 23287 | Details Get a Quote |
| AGTPBP1 Knockout HCT 116 Cell Line | EDJ-KQ33612 | Human | 23287 | Details Get a Quote |
| AGTPBP1 Knockout HeLa Cell Line | EDJ-KQ33613 | Human | 23287 | Details Get a Quote |
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