AP3S1
Adaptor Related Protein Complex 3 Subunit Sigma 1
Gene Information Card
| Symbol | AP3S1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Sigma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q22.1 |
| NCBI Gene ID | 1176 ncbi.nlm.nih.gov/gene/1176 |
| Ensembl ID | ENSG00000113575 |
| UniProt ID | Q92572 |
| OMIM ID | 601528 |
| HGNC ID | 568 |
| Aliases | CLAPS3, sigma3A, AP-3 complex subunit sigma-1 |
Description
AP3S1 encodes the sigma-1 subunit of the adaptor protein complex 3 (AP-3), which is involved in the sorting of transmembrane proteins to lysosomes and lysosome-related organelles. The AP-3 complex mediates clathrin-dependent and clathrin-independent vesicle trafficking from the trans-Golgi network and endosomes. Mutations in AP3S1 are associated with Hermansky-Pudlak syndrome type 10 (HPS10), characterized by oculocutaneous albinism and bleeding diathesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 10 (HPS10) | Loss-of-function mutations in AP3S1 disrupt AP-3 complex assembly, impairing cargo sorting to lysosome-related organelles, leading to melanosome and platelet dense granule defects. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; associated with HPS10 |
| c.346C>T (p.Arg116*) | Nonsense | Rare | Premature truncation; loss of function |
| c.448G>A (p.Gly150Arg) | Missense | Rare | Impaired AP-3 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent sigma1A protein, disrupting AP-3 function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein transport | • intracellular protein transport |
| • vesicle-mediated transport | • clathrin adaptor activity |
| • protein binding |
Pathways
• Lysosome vesicle biogenesis
• Clathrin-mediated endocytosis
• AP-3 complex pathway
Protein Summary
AP3S1 encodes the sigma-1A subunit of the AP-3 complex. This small (22 kDa) protein is essential for the structural integrity of the heterotetrameric AP-3 complex. It interacts with the delta and mu subunits to form the core of the complex. The sigma subunit is critical for cargo recognition and vesicle budding. Loss of sigma1A leads to mislocalization of lysosomal membrane proteins and defects in organelle biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3S1 Knockout HEK293 Cell Line | EDJ-KQ50198 | Human | 1176 | Details Get a Quote |
| AP3S1 Knockout HeLa Cell Line | EDJ-KQ52921 | Human | 1176 | Details Get a Quote |
| AP3S1 Knockout A-549 Cell Line | EDJ-KQ61388 | Human | 1176 | Details Get a Quote |
| AP3S1 Knockout HCT 116 Cell Line | EDJ-KQ69883 | Human | 1176 | Details Get a Quote |
