HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP13A1
ATPase 13A1
Chromosome 19 · 19p13.11
NCBI Gene: 57130Ensembl: ENSG00000105726.18HGNC: HGNC:24215UniProt: Q9HD20
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembraneextraction of mislocalized protein from ER membranemembrane protein dislocase activityneurodegenerative diseaseliver diseasejaw diseaseAlzheimer disease
✦AI Summary

ATP13A1 is a P5-type ATPase localized to the endoplasmic reticulum (ER) that functions as a membrane protein dislocase, removing mislocalized proteins from the ER membrane 1. It specifically extracts mitochondrial tail-anchored transmembrane proteins and poorly hydrophobic transmembrane domains that have been mistargeted or misfold in the ER through ATP-dependent translocation 2. ATP13A1 recognizes substrates through an unusually large substrate-binding pocket that engages moderately hydrophobic transmembrane sequences via polar interactions, then cooperates with SEC61 for substrate-specific re-translocation and proper folding 3. This enzyme plays a critical quality-control role, correcting inverted topologies contrary to the positive-inside rule and enabling post-translational re-orientation of misfolded multi-spanning membrane proteins 4. Beyond protein folding, ATP13A1 regulates MR1 surface expression, affecting MR1-mediated antigen presentation to mucosal-associated invariant T cells 5. Disease relevance is indicated by ATP13A1 variants identified in intellectual disability families, suggesting its importance for normal neurological development 6. Evolutionary analysis reveals ATP13A1 as the highly conserved P5A clade ortholog of yeast Spf1p, distinct from the diversified mammalian P5B isoforms ATP13A2-5 1.

Sources cited
1
ATP13A1 localizes to the ER, contains 12 transmembrane helices, and carries out basic ER functions similar to yeast Spf1p
PMID: 29505581
2
ATP13A1 facilitates post-translational topogenesis and re-orientation of poorly hydrophobic transmembrane domains in multi-spanning proteins
PMID: 38723633
3
ATP13A1 substrate-binding pocket engages signal sequences through polar interactions and cooperates with SEC61 for translocation
PMID: 40498833
4
ATP13A1 (Spf1 ortholog) dislocates transmembrane proteins inserted contrary to the positive-inside rule, functioning as a quality controller
PMID: 37635876
5
ATP13A1 is a positive regulator of MR1 surface expression and MR1-mediated antigen presentation
PMID: 34968463
6
ATP13A1 variants identified as novel candidates in intellectual disability families
PMID: 28940097
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
liver diseaseOpen Targets
0.03Suggestive
jaw diseaseOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
Respiratory Syncytial Virus InfectionOpen Targets
0.01Suggestive
viral diseaseOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
celiac diseaseOpen Targets
0.00Suggestive
inflammatory bowel diseaseOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
supranuclear palsy, progressive, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCNX3Protein interaction79%ATP13A5Shared pathway51%ATP13A4Shared pathway44%TMEM63AShared pathway40%ANO10Shared pathway40%ATP13A3Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
80%
Lung
77%
Bone Marrow
56%
Heart
30%
Brain
24%
Gene Interaction Network
Click a node to explore
ATP13A1PCNX3ATP13A5ATP13A4TMEM63AANO10ATP13A3
PROTEIN STRUCTURE
Preparing viewer…
PDB9JBR · 3.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.47 [0.38–0.59]
RankingsWhere ATP13A1 stands among ~20K protein-coding genes
  • #5,924of 20,598
    Most Researched80
  • #4,022of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedATP13A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expanding the genetic heterogeneity of intellectual disability.
PMID: 28940097
Hum Genet · 2017
1.00
2
Getting membrane proteins into shape.
PMID: 38759622
Mol Cell · 2024
0.90
3
Parkinson disease related ATP13A2 evolved early in animal evolution.
PMID: 29505581
PLoS One · 2018
0.80
4
ATP13A1 engages SEC61 to facilitate substrate-specific translocation.
PMID: 40498833
Sci Adv · 2025
0.70
5
An ATP13A1-assisted topogenesis pathway for folding multi-spanning membrane proteins.
PMID: 38723633
Mol Cell · 2024
0.60