AP1AR: AP-1 Complex Associated Regulatory Protein
A key regulator of AP-1 clathrin adaptor complex function in intracellular trafficking
Gene Information Card
| Symbol | AP1AR |
|---|---|
| Full Name | AP-1 complex associated regulatory protein |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.31 |
| NCBI Gene ID | 55435 ncbi.nlm.nih.gov/gene/55435 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q96BZ9 |
| OMIM ID | 617481 |
| HGNC ID | 29518 |
| Aliases | AP1AR, C4orf16, PRO0971, UNQ583/PRO1151 |
Description
AP1AR (AP-1 complex associated regulatory protein) is a protein-coding gene located on chromosome 4p15.31. The encoded protein is a component of the AP-1 clathrin adaptor complex, which plays a critical role in intracellular vesicle trafficking, particularly in the transport of cargo between the trans-Golgi network and endosomes. AP1AR regulates the assembly and function of the AP-1 complex, influencing protein sorting and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK 293 | 11.8 | Embryonic kidney cells |
| K562 | 9.5 | Leukemia cell line |
| A549 | 7.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • AP-1 adaptor complex (GO:0030121) | • intracellular protein transport (GO:0006886) |
| • vesicle-mediated transport (GO:0016192) | • cytoplasm (GO:0005737) |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Trans-Golgi network vesicle budding (Reactome: R-HSA-421837)
Protein Summary
The AP1AR protein is a regulatory subunit of the AP-1 clathrin adaptor complex. It is involved in the formation of clathrin-coated vesicles at the trans-Golgi network and endosomes, facilitating the sorting and transport of transmembrane proteins. The protein contains a conserved domain that mediates interaction with the AP-1 complex core, modulating its activity and cargo selection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1AR Knockout HEK293 Cell Line | EDJ-KQ12390 | Human | 55435 | Details Get a Quote |
| AP1AR Knockout A-549 Cell Line | EDJ-KQ41260 | Human | 55435 | Details Get a Quote |
| AP1AR Knockout HCT 116 Cell Line | EDJ-KQ41261 | Human | 55435 | Details Get a Quote |
| AP1AR Knockout HeLa Cell Line | EDJ-KQ41262 | Human | 55435 | Details Get a Quote |
