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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AP1S3
adaptor related protein complex 1 subunit sigma 3
Chromosome 2 · 2q36.1
NCBI Gene: 130340Ensembl: ENSG00000152056.19HGNC: HGNC:18971UniProt: Q96PC3
40PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein targetingvesicle-mediated transportlysosomal membranepsoriasis 14, pustularHIV infectionnephrolithiasisbladder calculus
✦AI Summary

AP1S3 (adaptor related protein complex 1 subunit sigma 3) is a subunit of the clathrin-associated adaptor protein complex 1 that plays critical roles in protein sorting and vesicle trafficking within the late-Golgi/trans-Golgi network and endosomes 1. The protein is distinctively elevated in keratinocytes, where it regulates autophagosome formation and maintains cellular homeostasis 1. AP1S3 functions as a key regulator of autophagy in keratinocytes, and its knockout disrupts this pathway, leading to abnormal accumulation of p62 and subsequent NF-κB activation 1. This disruption results in upregulation of IL-1 signaling and overexpression of IL-36α, a critical mediator of skin inflammation 1. Mutations in AP1S3 are associated with generalized pustular psoriasis (GPP), an autoinflammatory skin disorder characterized by sterile pustules and systemic inflammation 23. The gene has also been implicated in cancer progression, where it enhances tumor cell proliferation and migration by activating the PI3K/AKT/mTOR pathway and modulating lipid metabolism 45. These findings establish AP1S3 as a crucial regulator of keratinocyte autophagy and skin immunity, with therapeutic implications for autoinflammatory disorders and cancer treatment.

Sources cited
1
AP1S3 is distinctively elevated in keratinocytes and regulates autophagosome formation; its knockout disrupts autophagy leading to p62 accumulation, NF-κB activation, and IL-36α overexpression
PMID: 27388993
2
AP1S3 mutations are associated with generalized pustular psoriasis, a rare inflammatory skin disorder
PMID: 36779681
3
AP1S3 is identified as one of seven GPP-related genes contributing to excessive innate immune pathway activation
PMID: 39698752
4
AP1S3 is upregulated in breast cancer and promotes tumor progression by activating PI3K/AKT/mTOR pathway and affecting lipid metabolism
PMID: 40555003
5
AP1S3 is highly expressed in glioma and enhances cancer cell proliferation, invasion, and migration
PMID: 34367317
Disease Associationsⓘ21
psoriasis 14, pustularOpen Targets
0.57Moderate
HIV infectionOpen Targets
0.50Moderate
nephrolithiasisOpen Targets
0.47Moderate
bladder calculusOpen Targets
0.45Moderate
pustular psoriasisOpen Targets
0.42Moderate
childhood onset asthmaOpen Targets
0.38Weak
psoriasisOpen Targets
0.37Weak
palmoplantar pustulosisOpen Targets
0.37Weak
generalized pustular psoriasisOpen Targets
0.37Weak
viral pneumoniaOpen Targets
0.33Weak
cholelithiasisOpen Targets
0.32Weak
asthmaOpen Targets
0.29Weak
knee fractureOpen Targets
0.21Weak
Romano-Ward syndromeOpen Targets
0.11Weak
familial atrial fibrillationOpen Targets
0.08Suggestive
Brugada syndromeOpen Targets
0.08Suggestive
Familial short QT syndromeOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
long QT syndrome 11Open Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
Psoriasis 15, pustularUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLA-AProtein interaction100%AP2M1Protein interaction91%AP2A1Protein interaction91%AP1G2Protein interaction86%SYNRGProtein interaction86%AFTPHProtein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
72%
Liver
52%
Brain
39%
Ovary
19%
Heart
14%
Gene Interaction Network
Click a node to explore
AP1S3HLA-AAP2M1AP2A1AP1G2SYNRGAFTPH
PROTEIN STRUCTURE
Preparing viewer…
PDB9DDT · 1.68 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.48 [0.30–0.82]
RankingsWhere AP1S3 stands among ~20K protein-coding genes
  • #10,129of 20,598
    Most Researched40
  • #6,909of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedAP1S3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
AP1S3 affects lipid metabolism in breast cancer cells by regulating the PI3K/AKT/mTOR pathway.
PMID: 40555003
Biochem Biophys Res Commun · 2025
1.00
2
Monogenic autoinflammatory diseases: Cytokinopathies.
PMID: 25814341
Cytokine · 2015
0.90
3
Adaptor Protein Complex 1 Sigma 3 Is Highly Expressed in Glioma and Could Enhance Its Progression.
PMID: 34367317
Comput Math Methods Med · 2021
0.80
4
Current management of generalized pustular psoriasis.
PMID: 36779681
Exp Dermatol · 2023
0.70
5
Updated genetic background of generalized pustular psoriasis as an autoinflammatory keratinization disease.
PMID: 39698752
J Dermatol · 2025
0.60