AP1G1

Chr 16q22.2

adaptor related protein complex 1 subunit gamma 1

MANE:: ENST00000299980.9

OMIM: 603533 ↗NCBI: 164 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AP1G1 · O43747

v62025-08-01

Predicted Aligned Error matrix for AP1G1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.8/ 100

Confident

822 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)19%
Low(50–70)1%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Usmani-Riazuddin syndrome, autosomal dominant
0.71
Usmani-Riazuddin syndrome, autosomal recessive
0.63
HIV infectious disease
0.50
hereditary disease
0.47
epilepsy
0.47
Intellectual disability
0.46
complex neurodevelopmental disorder
0.46
neurodegenerative disease
0.32
neurodevelopmental disorder
0.27
myasthenia gravis
0.16

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

Protein function (UniProt)

AP-1 complex subunit gamma-1

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025)