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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ATP13A5
ATPase 13A5
Chromosome 3 · 3q29
NCBI Gene: 344905Ensembl: ENSG00000187527.12HGNC: HGNC:31789UniProt: Q4VNC0
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polyamine transmembrane transportlate endosome membranepolyamine transmembrane transporter activityATPase-coupled monoatomic cation transmembrane transporter activityresponse to xenobiotic stimuluspoisoningHodgkins lymphomafrozen shoulder
✦AI Summary

ATP13A5 is a P5-type ATPase localized to the endosomal system with tissue-restricted expression in brain and epithelial glandular cells 1. It belongs to the P5B clade of ATPases that diversified in mammals and likely contains 10 transmembrane helices 1. While the precise substrate specificity remains incompletely characterized, ATP13A5 is implicated in polyamine transmembrane transport based on comparative studies of P5B-ATPases 1, and a genome-wide association study identified ATP13A5 as a novel locus regulating salivary creatinine levels 2. Clinically, ATP13A5 has been identified as a candidate diagnostic gene for allergic dermatitis, emerging from differential expression analysis and immune response profiling in AD patients 3. Additionally, ATP13A5 variants were detected in a family with atypical Hailey-Hailey disease alongside the primary ATP2C1 mutation, suggesting potential modifying effects on disease expressivity through altered ATPase protein levels 4. Recent evidence indicates ATP13A5 expression correlates with hydrogen sulfide-related pathways in breast cancer subtypes, where it contributes to molecular classification and prognostic stratification 5. The specialized tissue distribution and emerging disease associations suggest ATP13A5 may exert compartment-specific functions in cellular ion homeostasis and metabolite regulation, though functional mechanisms require further investigation.

Sources cited
1
ATP13A5 is a P5B-ATPase isoform residing in endosomal system with tissue-restricted expression in brain and epithelial glandular cells; likely contains 10 transmembrane helices
PMID: 29505581
2
ATP13A5 is a novel genome-wide association locus regulating salivary creatinine levels
PMID: 31960908
3
ATP13A5 identified as candidate diagnostic gene for allergic dermatitis based on differential expression and immune response analysis
PMID: 35028126
4
ATP13A5 variants detected in atypical Hailey-Hailey disease family; may influence disease expressivity through modulating ATPase protein levels
PMID: 25837627
5
ATP13A5 expression associates with hydrogen sulfide-related pathways and contributes to breast cancer molecular subtypes and prognostic stratification
PMID: 40193637
Disease Associationsⓘ20
response to xenobiotic stimulusOpen Targets
0.35Weak
poisoningOpen Targets
0.35Weak
Hodgkins lymphomaOpen Targets
0.35Weak
frozen shoulderOpen Targets
0.31Weak
Phenotypic abnormalityOpen Targets
0.29Weak
auditory system diseaseOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.13Weak
phototoxic dermatitisOpen Targets
0.12Weak
immunodeficiency 88Open Targets
0.05Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.05Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
ichthyosis prematurity syndromeOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
acute myelomonocytic leukemiaOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
hypothyroidismOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
Cerebral degenerationOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP13A4Shared pathway70%ATP13A3Shared pathway60%ATP13A1Shared pathway51%TMEM63AShared pathway40%ANO10Shared pathway40%ZACNShared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Lung
69%
Liver
5%
Bone Marrow
5%
Ovary
3%
Gene Interaction Network
Click a node to explore
ATP13A5ATP13A4ATP13A3ATP13A1TMEM63AANO10ZACN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q4VNC0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.80–1.07]
RankingsWhere ATP13A5 stands among ~20K protein-coding genes
  • #16,995of 20,598
    Most Researched10
  • #10,851of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedATP13A5
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Candidate Genes of Allergic Dermatitis Are Associated with Immune Response.
PMID: 35028126
J Healthc Eng · 2022
1.00
2
A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
PMID: 25837627
PLoS One · 2015
0.88
3
Parkinson disease related ATP13A2 evolved early in animal evolution.
PMID: 29505581
PLoS One · 2018
0.75
4
Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.
PMID: 31960908
Hum Mol Genet · 2020
0.63
5
Characterization of the P5 subfamily of P-type transport ATPases in mice.
PMID: 15381061
Biochem Biophys Res Commun · 2004
0.50