AP1G1: Adaptor Related Protein Complex 1 Subunit Gamma 1
A key component of the AP-1 clathrin-associated adaptor complex involved in intracellular vesicle trafficking and protein sorting.
Gene Information Card
| Symbol | AP1G1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 1 Subunit Gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 164 ncbi.nlm.nih.gov/gene/164 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | O43747 |
| OMIM ID | 603533 |
| HGNC ID | 560 |
| Aliases | ADTG, CLAPB1, gamma-adaptin |
Description
AP1G1 encodes the gamma-1 subunit of the adaptor protein complex 1 (AP-1), which is involved in clathrin-coated vesicle trafficking between the trans-Golgi network and endosomes. The protein mediates cargo selection and vesicle budding, playing a critical role in intracellular membrane transport and protein sorting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Mutations in AP1G1 disrupt AP-1 function, impairing endosomal trafficking and leading to axonal degeneration. | ClinVar, OMIM |
| Intellectual disability | Loss-of-function variants in AP1G1 are associated with neurodevelopmental disorders due to defective neuronal protein sorting. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| SH-SY5Y | 13.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | <0.01% | Loss of function; associated with HSP |
| c.1546G>A (p.Gly516Arg) | Missense | <0.01% | Impaired AP-1 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated gamma-adaptin protein, disrupting AP-1 complex formation and vesicle trafficking.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations that interfere with AP-1 complex assembly may act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • vesicle-mediated transport | • Golgi to endosome transport |
| • protein localization to plasma membrane |
Pathways
• Clathrin-mediated endocytosis
• AP-1 complex-mediated transport
• Membrane trafficking
Protein Summary
Gamma-adaptin (AP1G1) is a ~90 kDa subunit of the AP-1 adaptor complex. It contains an N-terminal trunk domain that binds clathrin and cargo proteins, and a C-terminal ear domain involved in regulatory interactions. The protein is essential for sorting transmembrane proteins at the trans-Golgi network and endosomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1G1 Knockout HEK293 Cell Line | EDJ-KQ4023 | Human | 164 | Details Get a Quote |
| AP1G1 Knockout A-549 Cell Line | EDJ-KQ25022 | Human | 164 | Details Get a Quote |
| AP1G1 Knockout HCT 116 Cell Line | EDJ-KQ26362 | Human | 164 | Details Get a Quote |
| AP1G1 Knockout HeLa Cell Line | EDJ-KQ26363 | Human | 164 | Details Get a Quote |
