AGTPBP1
Function
Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin (PubMed:22170066, PubMed:24022482, PubMed:30420557). Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate (PubMed:24022482). Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of alpha-tubulin as well as non-tubulin proteins such as MYLK (PubMed:22170066). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216).
Involvement in disease
Neurodegeneration, childhood-onset, with cerebellar atrophy
CONDCA
An autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M14 family.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytosol
- Nucleus
- Mitochondrion
- Localizes in both the cytoplasm and nuclei of interphase and dividing cells.
Alternative names
CCP1, KIAA1035, NNA1, AGTPBP1, Cytosolic carboxypeptidase 1, ATP/GTP-binding protein 1, Nervous system nuclear protein induced by axotomy protein 1 homolog, Protein deglutamylase CCP1