ATP13A3

Chr 3q29

ATPase 13A3

Aliases:: AFURS1
MANE:: ENST00000645319.2

OMIM: 610232 ↗NCBI: 79572 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATP13A3 · Q9H7F0

v62025-08-01

Predicted Aligned Error matrix for ATP13A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.7/ 100

Confident

1,226 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)57%
Low(50–70)9%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pulmonary arterial hypertension
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pulmonary hypertension, primary, 5
0.69
pulmonary arterial hypertension
0.63
heritable pulmonary arterial hypertension
0.37
tympanic membrane disorder
0.26
multinodular goiter
0.12
aortic stenosis
0.12
alcohol drinking
0.11
stroke disorder
0.11
aortic valve calcification
0.11
neuroblastoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polyamine-transporting ATPase 13A3

ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol