AP3B1
Adaptor Related Protein Complex 3 Subunit Beta 1
Gene Information Card
| Symbol | AP3B1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 8546 ncbi.nlm.nih.gov/gene/8546 |
| Ensembl ID | ENSG00000133794 |
| UniProt ID | O00203 |
| OMIM ID | 603401 |
| HGNC ID | 566 |
| Aliases | ADTB3A, HPS2, AP-3 complex beta-3A subunit |
Description
AP3B1 encodes the beta-3A subunit of the adaptor protein complex 3 (AP-3), which is involved in the formation of clathrin-coated vesicles and mediates protein trafficking from the trans-Golgi network to lysosomes and lysosome-related organelles. Mutations in AP3B1 cause Hermansky-Pudlak syndrome type 2 (HPS2), characterized by oculocutaneous albinism, bleeding diathesis, and neutropenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome type 2 (HPS2) | Loss-of-function mutations in AP3B1 disrupt AP-3 complex assembly, impairing trafficking of lysosomal membrane proteins, leading to defects in melanosomes, platelet dense granules, and neutrophil granules. | ClinVar, OMIM |
| Hermansky-Pudlak syndrome without neutropenia | Some AP3B1 variants may cause a milder HPS phenotype with less severe neutropenia. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.2 | Medium |
| Bone marrow | 10.5 | Medium |
| Spleen | 8.9 | Medium |
| Lung | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| HEK 293 | 8.7 | Embryonic kidney |
| HeLa | 6.2 | Cervical carcinoma |
| Hep G2 | 5.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1201C>T (p.Arg401*) | Nonsense | Rare | Loss of function; truncation of beta-3A subunit |
| c.1648_1649del (p.Leu550Glufs*13) | Frameshift | Rare | Loss of function; premature termination |
| c.280C>T (p.Arg94Trp) | Missense | Rare | Likely loss of function; disrupts AP-3 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Most AP3B1 mutations are loss-of-function, leading to HPS2 due to impaired AP-3 complex 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)
| • GO:0006886 (intracellular protein transport) | • GO:0016192 (vesicle-mediated transport) |
| • GO:0030123 (AP-3 adaptor complex) | • GO:0043231 (intracellular membrane-bounded organelle) |
| • GO:0005764 (lysosome) | • GO:0005794 (Golgi apparatus) |
Pathways
• Lysosome (KEGG hsa04142)
• Clathrin-mediated endocytosis (KEGG hsa04144)
• AP-3 complex mediated transport (Reactome R-HSA-432722)
Protein Summary
AP3B1 encodes the beta-3A subunit of the AP-3 complex, a heterotetrameric adaptor protein complex that sorts cargo proteins into clathrin-coated vesicles for transport to lysosomes and lysosome-related organelles. The beta-3A subunit is essential for complex stability and cargo recognition. Defects in this protein lead to Hermansky-Pudlak syndrome type 2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3B1 Knockout HEK293 Cell Line | EDJ-KQ6287 | Human | 8546 | Details Get a Quote |
| AP3B1 Knockout A-549 Cell Line | EDJ-KQ30189 | Human | 8546 | Details Get a Quote |
| AP3B1 Knockout HCT 116 Cell Line | EDJ-KQ30190 | Human | 8546 | Details Get a Quote |
| AP3B1 Knockout HeLa Cell Line | EDJ-KQ28874 | Human | 8546 | Details Get a Quote |
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