AP1S3

Chr 2q36.1

adaptor related protein complex 1 subunit sigma 3

Aliases:: sigma1C
MANE:: ENST00000396654.7

OMIM: 615781 ↗NCBI: 130340 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AP1S3 · Q96PC3

v62025-08-01

Predicted Aligned Error matrix for AP1S3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.4/ 100

Very high

154 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)10%
Low(50–70)4%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Generalised pustular psoriasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

psoriasis 14, pustular
0.57
HIV infectious disease
0.50
nephrolithiasis
0.44
pustular psoriasis
0.43
bladder calculus
0.42
palmoplantar pustulosis
0.37
generalized pustular psoriasis
0.37
childhood onset asthma
0.32
viral pneumonia
0.29
alcohol drinking
0.27

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

Protein function (UniProt)

AP-1 complex subunit sigma-3

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. Involved in TLR3 trafficking (PubMed:24791904)