AGTPBP1

Chr 9q21.33

ATP/GTP binding carboxypeptidase 1

Aliases:: KIAA1035, Nna1, CCP1
MANE:: ENST00000357081.8

OMIM: 606830 ↗NCBI: 23287 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AGTPBP1 · Q9UPW5

v62025-08-01

Predicted Aligned Error matrix for AGTPBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.3/ 100

Confident

1,226 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)18%
Low(50–70)4%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration, childhood-onset, with cerebellar atrophy
0.80
Global developmental delay
0.43
Aplasia/Hypoplasia of the cerebellum
0.43
pontocerebellar hypoplasia type 1
0.39
alcohol drinking
0.35
neurodegenerative disease
0.34
amyotrophic lateral sclerosis
0.32
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
0.31
multiple sclerosis
0.31
celiac disease
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytosolic carboxypeptidase 1

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)