AGAP1

Chr 2q37.2

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Aliases:: KIAA1099, GGAP1
MANE:: ENST00000304032.13

OMIM: 608651 ↗NCBI: 116987 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AGAP1 · Q9UPQ3

v62025-08-01

Predicted Aligned Error matrix for AGAP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.0/ 100

Confident

857 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)21%
Low(50–70)4%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Abnormality of the skeletal system
0.46
alcohol drinking
0.38
central nervous system infectious disorder
0.32
placental abruption
0.31
gestational diabetes
0.31
adrenal gland hyperfunction
0.30
hyperaldosteronism
0.30
pelvic organ prolapse
0.29
urolithiasis
0.29
Second degree atrioventricular block
0.29

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

Protein function (UniProt)

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1

GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system