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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATAD1
ATPase family AAA domain containing 1
Chromosome 10 Β· 10q23.31
NCBI Gene: 84896Ensembl: ENSG00000138138.14HGNC: HGNC:25903UniProt: A0A7P0T9B4
74PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneperoxisomal membraneextraction of mislocalized protein from mitochondrial outer membranemitochondrial outer membranehyperekplexia 4hereditary hyperekplexianeurodegenerative diseaseplacenta praevia
✦AI Summary

ATAD1 is a mitochondrial AAA+ ATPase that serves as a critical quality control factor for protein homeostasis at the outer mitochondrial membrane. Its primary function involves ATP-dependent extraction of mislocalized tail-anchored transmembrane proteins from mitochondrial membranes, preventing their toxic accumulation and maintaining organellar integrity 1. The protein acts as a dislocase that recognizes and removes both mistargeted proteins and those clogged in the translocase of the outer membrane (TOM) complex, thereby clearing the mitochondrial protein import machinery 2. ATAD1 interacts directly with TOM and stalled proteins, with its knockout resulting in extensive accumulation of mitochondrial precursors and decreased protein import efficiency 2. Beyond mitochondrial quality control, ATAD1 regulates apoptosis by extracting the pro-apoptotic protein BIM from mitochondria to inactivate it 3. In disease contexts, ATAD1 downregulation correlates with poor prognosis in prostate adenocarcinoma and creates vulnerability to proteasome inhibitors in cancer cells lacking this protein 43. The protein's loss, often through co-deletion with PTEN on chromosome 10, sensitizes cancer cells to proteasome dysfunction-induced apoptosis, suggesting potential therapeutic applications 3. ATAD1 expression changes have also been implicated in Alzheimer's disease pathogenesis 5.

Sources cited
1
ATAD1 is an AAA+ ATPase that extracts mislocalized membrane proteins from outer mitochondrial membrane using ATP hydrolysis
PMID: 32886535
2
ATAD1 removes clogged proteins from TOM complex and interacts with both TOM and stalled proteins, with knockout causing accumulation of mitochondrial precursors
PMID: 39024102
3
ATAD1 extracts pro-apoptotic protein BIM from mitochondria and its loss sensitizes cancer cells to proteasome inhibitors
PMID: 36409067
4
ATAD1 downregulation correlates with poor prognosis in prostate adenocarcinoma
PMID: 36362897
5
ATAD1 expression changes are implicated in Alzheimer's disease pathogenesis
PMID: 40849350
Disease Associationsβ“˜21
hyperekplexia 4Open Targets
0.64Moderate
hereditary hyperekplexiaOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
placenta praeviaOpen Targets
0.28Weak
HypocalcemiaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
hypothyroidismOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
preeclampsiaOpen Targets
0.12Weak
infectionOpen Targets
0.10Weak
malariaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
synucleinopathyOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
secondary malignant neoplasmOpen Targets
0.06Suggestive
prostate adenocarcinomaOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
Hyperekplexia 4UniProt
Pathogenic Variants3
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)Pathogenic
Hyperekplexia 4|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 357
NM_001321967.2(ATAD1):c.826G>T (p.Glu276Ter)Pathogenic
Hyperekplexia 4|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 276
NM_001321967.2(ATAD1):c.690+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
GYPAProtein interaction88%OPA1Protein interaction83%ERV3-1Protein interaction80%ERVFRD-1Protein interaction80%CYP1A1Protein interaction77%TOMM70Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Brain
55%
Liver
24%
Ovary
23%
Lung
22%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
ATAD1GYPAOPA1ERV3-1ERVFRD-1CYP1A1TOMM70
PROTEIN STRUCTURE
Preparing viewer…
PDB7UPR Β· 3.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.30 [0.18–0.51]
RankingsWhere ATAD1 stands among ~20K protein-coding genes
  • #6,380of 20,598
    Most Researched74
  • #4,027of 5,498
    Most Pathogenic Variants3
  • #3,059of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedATAD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mitochondrial YME1L1 governs unoccupied protein translocase channels.
PMID: 39774271
Nat Cell Biol Β· 2025
1.00
2
Multi-Omics Analysis Reveals Clinical Value and Possible Mechanisms of ATAD1 Down-Regulation in Human Prostate Adenocarcinoma.
PMID: 36362897
Life (Basel) Β· 2022
0.90
3
Msp1/ATAD1 in Protein Quality Control and Regulation of Synaptic Activities.
PMID: 32886535
Annu Rev Cell Dev Biol Β· 2020
0.80
4
ATAD1 prevents clogging of TOM and damage caused by un-imported mitochondrial proteins.
PMID: 39024102
Cell Rep Β· 2024
0.70
5
Proteogenomic characterization unveils biomarkers associated with chemoresistance in muscle-invasive bladder cancer.
PMID: 40749681
Cell Rep Med Β· 2025
0.60