AGBL1

Chr 15q25.3

AGBL carboxypeptidase 1

Aliases:: FLJ32310, CCP4
MANE:: ENST00000614907.3

OMIM: 615496 ↗NCBI: 123624 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AGBL1 · Q96MI9

v62025-08-01

Predicted Aligned Error matrix for AGBL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

1,112 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)18%
Low(50–70)5%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Corneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Fuchs endothelial corneal dystrophy
0.62
myasthenia gravis
0.41
smoking initiation
0.38
cystitis
0.33
pneumonia
0.31
alcohol drinking
0.31
placenta praevia
0.31
sign or symptom
0.29
dislocation
0.29
metabolic disease
0.29

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

Protein function (UniProt)

Cytosolic carboxypeptidase 4

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 tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK