AP5Z1 Gene (Adaptor Related Protein Complex 5 Subunit Zeta 1)
AP5Z1: A key component of the AP-5 complex involved in endosomal trafficking and associated with hereditary spastic paraplegia.
Gene Information Card
| Symbol | AP5Z1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 5 Subunit Zeta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 9907 ncbi.nlm.nih.gov/gene/9907 |
| Ensembl ID | ENSG00000105974 |
| UniProt ID | Q9BRL6 |
| OMIM ID | 613653 |
| HGNC ID | 22191 |
| Aliases | SPG48, C7orf26, HSPC294, MSTP034, MSTP172 |
Description
AP5Z1 encodes the zeta subunit of the adaptor protein complex 5 (AP-5), a component of the endosomal trafficking machinery. AP-5 is involved in the sorting of transmembrane proteins from late endosomes to the trans-Golgi network. Mutations in AP5Z1 cause hereditary spastic paraplegia type 48 (SPG48), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 48 (SPG48) | Loss-of-function mutations in AP5Z1 disrupt AP-5 complex assembly and endosomal trafficking, leading to neuronal dysfunction and degeneration. | Multiple families with biallelic mutations (e.g., c.1282C>T, p.Arg428*) reported in OMIM and ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 4.8 | Low |
| Kidney | 3.1 | Low |
| Liver | 2.5 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Embryonic kidney cells |
| SH-SY5Y | 4.5 | Neuroblastoma cells |
| HeLa | 3.8 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.535C>T (p.Arg179*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.1174C>T (p.Arg392*) | Nonsense | Rare | Premature stop codon; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent AP5Z1 protein, impairing AP-5 complex function.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • intracellular protein transport |
| • endosomal transport | • Golgi to endosome transport |
| • AP-5 adaptor complex |
Pathways
• Endosomal trafficking
• AP-5 complex mediated transport
Protein Summary
AP5Z1 is a 783-amino acid protein that forms the zeta subunit of the AP-5 complex. It is essential for the stability and function of the complex, which mediates retrograde transport from late endosomes to the Golgi apparatus. Loss of AP5Z1 leads to mislocalization of cargo proteins and contributes to neurodegeneration in SPG48.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP5Z1 Knockout HEK293 Cell Line | EDJ-KQ6816 | Human | 9907 | Details Get a Quote |
| AP5Z1 Knockout A-549 Cell Line | EDJ-KQ31338 | Human | 9907 | Details Get a Quote |
| AP5Z1 Knockout HCT 116 Cell Line | EDJ-KQ31339 | Human | 9907 | Details Get a Quote |
| AP5Z1 Knockout HeLa Cell Line | EDJ-KQ31340 | Human | 9907 | Details Get a Quote |
