AGBL5

Chr 2p23.3

AGBL carboxypeptidase 5

Aliases:: FLJ21839, CCP5
MANE:: ENST00000360131.5

OMIM: 615900 ↗NCBI: 60509 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AGBL5 · Q8NDL9

v62025-08-01

Predicted Aligned Error matrix for AGBL5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.8/ 100

Low

886 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.76
Retinal dystrophy
0.50
inherited retinal dystrophy
0.37
autosomal recessive retinitis pigmentosa
0.34
neurodegenerative disease
0.30
hereditary disease
0.19
spermatogenic failure
0.08
non-syndromic male infertility due to sperm motility disorder
0.07
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.07
partial chromosome Y deletion
0.07

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

Protein function (UniProt)

Cytosolic carboxypeptidase-like protein 5

Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. 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. Cleaves alpha- and gamma-linked polyglutamate tubulin side-chain, as well as the branching point glutamate. Also catalyzes the removal of alpha-linked glutamate residues from the carboxy-terminus of alpha-tubulin. Mediates deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation