ATP13A3 Gene
ATPase 13A3: A P-type ATPase implicated in pulmonary arterial hypertension and cancer
Gene Information Card
| Symbol | ATP13A3 |
|---|---|
| Full Name | ATPase 13A3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 79572 ncbi.nlm.nih.gov/gene/79572 |
| Ensembl ID | ENSG00000133657 |
| UniProt ID | Q9H7F0 |
| OMIM ID | 610232 |
| HGNC ID | 24113 |
| Aliases | AFURS1, ATP13A3, ATPase type 13A3 |
Description
ATP13A3 encodes a member of the P-type ATPase family, which transports cations across cellular membranes. The protein is involved in polyamine transport and has been linked to pulmonary arterial hypertension (PAH) and various cancers. Mutations in ATP13A3 are associated with autosomal dominant PAH and may influence tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary arterial hypertension (PAH) | Loss-of-function mutations impair polyamine transport, leading to vascular remodeling | PMID: 30578397, ClinVar |
| Breast cancer | Overexpression may promote cell proliferation and metastasis | COSMIC, PMID: 25691885 |
| Prostate cancer | Altered expression linked to tumor aggressiveness | COSMIC, PMID: 27050079 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Brain | 3.8 | Low |
| Heart | 4.1 | Low |
| Liver | 2.9 | Low |
| Kidney | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 8.5 | Moderate expression |
| MCF7 (breast cancer) | 12.3 | High expression |
| PC3 (prostate cancer) | 10.1 | High expression |
| HEK293 (embryonic kidney) | 7.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1846C>T (p.Arg616Trp) | Missense | <0.01% | Loss of function, associated with PAH |
| c.2470G>A (p.Glu824Lys) | Missense | <0.01% | Unknown significance |
| c.3349_3350del (p.Leu1117fs) | Frameshift | <0.01% | Loss of function, PAH |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in ATP13A3 reduce polyamine transport activity, contributing to PAH pathogenesis.
Gain of Function (GOF)
Not well documented; overexpression in cancer may suggest gain-of-function effects.
Dominant Negative (DN)
Not established for ATP13A3.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • P-type ATPase activity |
| • polyamine transmembrane transporter activity | • membrane |
| • integral component of membrane | • cation transport |
Pathways
• Polyamine transport
• Ion transport by P-type ATPases
Protein Summary
ATP13A3 is a 1206-amino acid transmembrane protein belonging to the P5 subfamily of P-type ATPases. It localizes to the plasma membrane and endosomes, mediating polyamine import. The protein contains ten transmembrane domains and conserved ATP-binding and phosphorylation domains. Mutations disrupt polyamine homeostasis, linking to PAH and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP13A3 Knockout HEK293 Cell Line | EDJ-KQ12488 | Human | 79572 | Details Get a Quote |
| ATP13A3 Knockout A-549 Cell Line | EDJ-KQ41450 | Human | 79572 | Details Get a Quote |
| ATP13A3 Knockout HCT 116 Cell Line | EDJ-KQ41451 | Human | 79572 | Details Get a Quote |
| ATP13A3 Knockout HeLa Cell Line | EDJ-KQ41452 | Human | 79572 | Details Get a Quote |
