Comprehensive research report: **ATAD1 (UniProt Q8NBU5; human Thorase/MSP1 homolog)** Falcon Edison Scientific Literature 38 citations 2 artifacts 2026-06-07T04:54:36.962742

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Comprehensive research report: ATAD1 (UniProt Q8NBU5; human Thorase/MSP1 homolog)

0) Gene/protein verification (mandatory identity check)

The literature retrieved and cited here consistently describes human ATAD1 (UniProt Q8NBU5) as a membrane-anchored AAA+ ATPase (MSP1 subfamily) localized primarily to the outer mitochondrial membrane (OMM), with well-established roles as a membrane-protein extractase/dislocase that removes mislocalized membrane proteins (notably tail-anchored proteins) and stalled import substrates. This matches the UniProt description (“Outer mitochondrial transmembrane helix translocase”; AAA ATPase family; Thorase synonym) and is not a different gene with an ambiguous symbol. (wang2020msp1atad1inprotein pages 1-2, wang2022conservedstructuralelements pages 1-2)

1) Key concepts and definitions (current understanding)

1.1 ATAD1 is an ATP-driven membrane protein extractase

ATAD1 belongs to the AAA+ ATPase family and functions by hydrolyzing ATP to extract membrane proteins from the OMM into the cytosol, where they can be degraded or re-routed. This “extractase/dislocase” concept is central: ATAD1/Msp1 recognizes substrates embedded in the lipid bilayer (often tail-anchored proteins) and mechanically pulls them through its central pore. (wang2020msp1atad1inprotein pages 1-2, winter2022collateraldeletionof pages 1-2, winter2022collateraldeletionof pages 8-9)

1.2 Tail-anchored (TA) protein targeting and “proofreading”

Tail-anchored proteins have a single C-terminal transmembrane helix and are post-translationally inserted into membranes. Targeting is not perfectly faithful, so ER-destined TA proteins can mislocalize to mitochondria. Msp1/ATAD1 provides a proofreading layer by extracting mislocalized TA proteins from the OMM; extracted proteins may be degraded or handed off for correct targeting (e.g., to ER insertion pathways). (wang2020msp1atad1inprotein pages 2-4, matsumoto2023msp1mediatedproofreadingmechanism pages 5-6, matsumoto2023msp1mediatedproofreadingmechanism pages 1-2)

1.3 “Outer mitochondrial transmembrane helix translocase” as a functional label

In functional-annotation terms, ATAD1 is best conceptualized as an OMM transmembrane-helix removal/translocation factor (an extractase) rather than a classic importer: it recognizes membrane-embedded helices and uses ATP to move them out of the membrane environment, protecting organelle proteostasis. (wang2020msp1atad1inprotein pages 1-2, wang2022conservedstructuralelements pages 1-2)

2) Molecular function, mechanism, and key substrates

2.1 Subcellular localization and architecture

ATAD1 is described as membrane-anchored (single N-terminal transmembrane anchor) with the AAA domain facing the cytosol; it is predominantly at the OMM and is also discussed in the context of peroxisomal quality control in the broader Msp1/ATAD1 family. (fresenius2023developmentofaa pages 19-23, fresenius2023developmentofab pages 19-23, wang2020msp1atad1inprotein pages 1-2)

Structurally, human ATAD1 forms a hexameric AAA+ assembly adopting a right-handed spiral/“lock-washer” during substrate engagement, consistent with pore-threading translocation mechanisms used by AAA+ unfoldases. (wang2022conservedstructuralelements pages 1-2, wang2022conservedstructuralelements pages 2-3)

2.2 Central-pore substrate grip: aromatic pore loops specialize ATAD1

Cryo-EM and mutational analyses indicate human ATAD1’s central pore has features adapted for gripping hydrophobic substrates: pore-loop residues W166 and Y167 (among others) intercalate with substrate side chains, and mutations at these sites strongly reduce binding/activity (including reports of >100-fold reduced peptide binding for several mutants in vitro). (wang2022conservedstructuralelements pages 11-13, wang2022conservedstructuralelements pages 2-3)

2.3 Foundational substrates: mislocalized TA proteins (Pex15/PEX26; Gos1/GOS28)

A foundational function is removing mislocalized TA proteins from mitochondria. In yeast, canonical substrates include Pex15 (peroxisomal TA) and Gos1 (Golgi v-SNARE), discovered using genetic and “substrate-trap” AAA mutants. Conservation to mammals is supported by increased mitochondrial localization/levels of substrates such as PEX26 and GOS28 when ATAD1 is depleted. (chen2014msp1atad1maintainsmitochondrial pages 6-7, chen2014msp1atad1maintainsmitochondrial pages 10-11, chen2014msp1atad1maintainsmitochondrial pages 9-10)

2.4 Rerouting vs degradation: coupling to GET/TRC and ubiquitin–proteasome systems

Mechanistically, extracted TA proteins may be rerouted to the ER via TA targeting machinery (GET/TRC pathway) rather than obligatorily destroyed, creating an intracellular proofreading system. Evidence includes time-lapse microscopy and biochemical interaction (e.g., Msp1-dependent association of extracted substrates with Get3). (matsumoto2023msp1mediatedproofreadingmechanism pages 5-6, matsumoto2023msp1mediatedproofreadingmechanism pages 1-2)

In other cases, extraction feeds into ubiquitination and proteasome-dependent degradation; a 2023 synthesis describes models where Msp1 binds non-ubiquitinated substrates, followed by ubiquitination (e.g., Doa10-dependent in yeast), engagement by Cdc48, and proteasomal degradation. (matsumoto2023msp1mediatedproofreadingmechanism pages 3-4)

2.5 Import stress and removal of stalled import substrates

ATAD1/Msp1 also extracts proteins that become stalled in the mitochondrial import channel/translocase, helping maintain mitochondrial protein import capacity and linking ATAD1 to mitochondrial import-stress quality control frameworks. (wang2020msp1atad1inprotein pages 1-2, wang2022conservedstructuralelements pages 1-2)

2.6 Human ATAD1 apoptotic substrate: direct extraction of BIM

A key human-specific mechanistic finding is that ATAD1 directly extracts the pro-apoptotic BH3-only protein BIM from membranes/mitochondria. In a reconstituted liposome assay, extraction was ATP-dependent, required membrane anchoring, and showed substrate selectivity (BIM extracted, while related proteins such as PUMA/BIK were not, under the tested conditions). (winter2022collateraldeletionof pages 8-9, winter2022collateraldeletionof media 8a98eb16)

3) Recent developments and latest research (prioritizing 2023–2024)

3.1 2024: hydrophobic mismatch as a substrate-recognition principle (reconstituted quantitative assays)

A 2024 bioRxiv preprint reports a quantitative reconstituted extraction assay and proposes that Msp1 recognizes substrates via hydrophobic mismatch between a substrate’s transmembrane domain (TMD) and the surrounding lipid bilayer; importantly, the authors conclude that TMD extraction from the bilayer is rate-limiting. While centered on yeast Msp1, the work explicitly frames relevance to the human homolog ATAD1 and provides a mechanistic model applicable to ATAD1-family substrate selectivity. (fresenius2024theaaa+protein pages 1-3, fresenius2024theaaa+protein pages 13-21)

3.2 2023: updated model of TA protein localization proofreading

A 2023 peer-reviewed review consolidates the “proofreading” model: Msp1/ATAD1 extracts mislocalized TA proteins from the OMM and supports their handoff to GET/TRC for ER targeting or channels them to degradation pathways, situating ATAD1 within a multilayer organelle targeting QC network. (matsumoto2023msp1mediatedproofreadingmechanism pages 3-4, matsumoto2023msp1mediatedproofreadingmechanism pages 1-2)

3.3 2023: expanded functional landscape—ATAD1-family involvement in mitochondrial fission control

A 2023 PLOS Biology study of the fission yeast ATAD1 homolog (Yta4) reports a role in preventing excessive mitochondrial fission, including interaction with mitochondrial divisome components and ATPase/translocase-dependent delocalization of factors such as Fis1/Mdv1; while not human ATAD1 directly, it broadens mechanistic hypotheses about how ATAD1-family extractases can tune organelle dynamics beyond proteostasis. (he2023theaaaatpaseyta4atad1 pages 1-2)

3.4 2024: energetic and mechanistic plasticity in Msp1-family extraction

A 2024 bioRxiv preprint using covalently linked dimers suggests a non-linear relationship between ATP hydrolysis rate and membrane extraction efficiency and proposes a minimum ATPase rate for effective TMH extraction; these results are mechanistically informative for ATAD1 by orthology, though not yet direct human ATAD1 measurements in the retrieved set. (fresenius2024theaaa+protein pages 1-3)

4) Current applications and real-world implementations

4.1 Cancer vulnerability (“collateral lethality”) in PTEN/10q23 deletions

ATAD1 is near PTEN (10q23) and is frequently co-deleted with PTEN. The 2022 eLife study proposes a clinically actionable vulnerability: ATAD1 loss sensitizes cells to proteasome dysfunction through BIM-dependent apoptosis, and ATAD1-null cells/xenografts are hypersensitive to proteasome inhibitors. (winter2022collateraldeletionof pages 1-2, winter2022collateraldeletionof pages 11-13)

Quantitative/implementation-relevant details from the study and supporting excerpts include:
- PTEN deletion rates cited as >33% of metastatic prostate tumors and ~10% of melanoma and glioblastoma multiforme, contextualizing the prevalence of adjacent-locus deletions. (winter2022collateraldeletionof pages 1-2)
- Mouse xenografts: bortezomib dosing of 1 mg/kg reduced growth of ATAD1-deleted PC3 tumors (but not controls in the excerpted comparison). (winter2022collateraldeletionof pages 11-13)
- Tumorigenicity shift in a glioma model: EV-transduced SW1088 cells formed 0/17 tumors, while ATAD1-transduced formed 20/21 tumors in NOD/SCID mice (suggesting ATAD1 can promote tumor growth/fitness in that context). (winter2022collateraldeletionof pages 11-13)

4.2 Clinical association: overall survival differences in mCRPC with ATAD1/PTEN co-deletion

Across the cited mCRPC context, median overall survival is reported as 77 months for tumors that are PTEN-null and ATAD1-null vs 37 months for PTEN-null or unaltered tumors. (winter2022collateraldeletionof pages 11-13, fresenius2023developmentofa pages 67-73)

4.3 Disease-modifier concept in Zellweger spectrum disorder (ZSD) models

In ZSD model systems, overexpression of ATAD1 (as a mitochondrial QC factor) was sufficient to rescue aspects of mitochondrial function, supporting an organelle-proteostasis “modifier” approach. (fresenius2023developmentofaa pages 19-23)

5) Expert opinions and authoritative synthesis

5.1 High-authority review perspective on core function and open questions

An authoritative 2020 Annual Review article synthesizes the field: ATAD1/Msp1 is a central mitochondrial proteostasis factor extracting mislocalized membrane proteins and import-stalled substrates; extracted clients are triaged to proteasomal degradation or rerouting, and the review highlights unresolved questions about substrate selection and how ATAD1’s specialization enables membrane extraction. (wang2020msp1atad1inprotein pages 1-2, wang2020msp1atad1inprotein pages 2-4)

5.2 Noncanonical neuronal role: AMPAR trafficking and synaptic plasticity

The same review compiles biochemical and neuronal data indicating ATAD1 (Thorase) can regulate synaptic receptor trafficking: ATAD1 forms complexes with GluR2 and GRIP1; ATAD1 can disassemble GluR2–GRIP1 in an ATP-dependent manner; perturbing ATAD1 changes surface AMPAR levels and affects activity-dependent synaptic downscaling (e.g., bicuculline-induced AMPAR internalization). (wang2020msp1atad1inprotein pages 18-20)

6) Relevant statistics and data highlights (recent and/or mechanistically informative)

6.1 Cancer prevalence and impact estimates (from 2023 mechanistic/translational synthesis)

A 2023 thesis-like source summarizes quantitative epidemiology and survival metrics related to ATAD1 loss in cancer:
- ATAD1 deletion frequency: 4.1% in gastric cancer; using global gastric cancer mortality (~800,000 deaths/year), the text estimates ~32,000 deaths/year associated with ATAD1-deficient gastric cancer. (fresenius2023developmentofac pages 67-73, fresenius2023developmentofa pages 67-73)
- Median overall survival in mCRPC: 77 vs 37 months (ATAD1/PTEN co-deleted vs PTEN-null/unaltered). (fresenius2023developmentofa pages 67-73, winter2022collateraldeletionof pages 11-13)

6.2 Mechanistic assay evidence (visual and biochemical)

Figure evidence from Winter et al. 2022 directly supports ATP-dependent and selective extraction of BIM by ATAD1 in a reconstituted system. (winter2022collateraldeletionof media 8a98eb16, winter2022collateraldeletionof media eae7fce6)

6.3 Disease association databases (hypothesis-generating)

Open Targets lists ATAD1 associations with terms including hereditary hyperekplexia / hyperekplexia 4 and broader neurodegenerative disease categories. These associations are useful for prioritizing follow-up but should be interpreted cautiously without direct primary-study confirmation in the same evidence bundle. (OpenTargets Search: -ATAD1)

7) Practical functional annotation summary (for gene/protein annotation)

7.1 Primary function (best-supported)

ATAD1 is an OMM AAA+ ATPase extractase/translocase that uses ATP hydrolysis to remove membrane-embedded proteins—especially mislocalized tail-anchored proteins and stalled import substrates—from the mitochondrial outer membrane, promoting rerouting and/or degradation to maintain organelle proteostasis. (wang2020msp1atad1inprotein pages 1-2, wang2022conservedstructuralelements pages 1-2, chen2014msp1atad1maintainsmitochondrial pages 10-11)

7.2 Substrates and specificity

7.3 Localization

Evidence summary table

The following table consolidates key findings, evidence types, and DOI URLs:

Functional aspect Key findings Evidence type Key sources with year + DOI URL
Gene/protein identity Human ATAD1 = Thorase, ortholog of yeast Msp1; UniProt Q8NBU5. Literature consistently matches a membrane-anchored AAA+ ATPase/extractase rather than an unrelated gene symbol. Belongs to the MSP1 subfamily and functions in outer mitochondrial membrane protein quality control (wang2020msp1atad1inprotein pages 1-2, fresenius2023developmentofa pages 19-23, wang2022conservedstructuralelements pages 1-2) Review, structure, database-aligned annotation Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840; Wang et al. 2022, doi: https://doi.org/10.7554/elife.73941
Localization ATAD1 is anchored by a single N-terminal transmembrane helix in the outer mitochondrial membrane (OMM) with the AAA domain exposed to the cytosol; several sources also note localization/function at peroxisomes for tail-anchored protein proofreading (wang2020msp1atad1inprotein pages 1-2, fresenius2023developmentofaa pages 19-23, fresenius2023developmentofab pages 19-23) Review, cell biology, structural interpretation Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840; Chen et al. 2014, doi: https://doi.org/10.15252/embj.201487943
Domain/oligomeric architecture Human ATAD1 is a hexameric AAA+ ATPase that forms a right-handed spiral/lock-washer assembly during substrate engagement. Conserved pore loops and a C-terminal helix adapt it for membrane protein extraction (wang2022conservedstructuralelements pages 1-2, wang2022conservedstructuralelements pages 11-13, wang2022conservedstructuralelements pages 2-3) Cryo-EM structure, mutagenesis Wang et al. 2022, doi: https://doi.org/10.7554/elife.73941; Wang et al. 2020, doi: https://doi.org/10.7554/elife.54031
Primary molecular activity ATAD1 is an ATP-driven membrane protein extractase/translocase that removes mislocalized membrane proteins and proteins stalled in the mitochondrial import machinery; ATP hydrolysis is required for direct substrate removal from membranes (wang2020msp1atad1inprotein pages 1-2, winter2022collateraldeletionof pages 1-2, winter2022collateraldeletionof pages 8-9) Review, biochemical reconstitution, cell biology Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840; Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860
Foundational substrate class: mistargeted tail-anchored proteins The founding quality-control role is extraction of mislocalized tail-anchored (TA) proteins from mitochondria. In yeast, Pex15 and Gos1 are canonical substrates; mammalian conservation is supported by increased mitochondrial localization of PEX26 and GOS28 after ATAD1 depletion/knockdown (chen2014msp1atad1maintainsmitochondrial pages 6-7, chen2014msp1atad1maintainsmitochondrial pages 10-11, chen2014msp1atad1maintainsmitochondrial pages 9-10) Genetics, substrate-trap biochemistry, microscopy Chen et al. 2014, doi: https://doi.org/10.15252/embj.201487943
Proofreading/rerouting pathway Msp1/ATAD1-dependent extraction can reroute mislocalized TA proteins from mitochondria to the ER via the GET/TRC pathway, establishing an intracellular proofreading system rather than simple destruction in all cases (wang2020msp1atad1inprotein pages 2-4, matsumoto2023msp1mediatedproofreadingmechanism pages 5-6, matsumoto2023msp1mediatedproofreadingmechanism pages 1-2) Time-lapse imaging, co-IP, review Matsumoto et al. 2019, doi: https://doi.org/10.1016/j.molcel.2019.07.006; Matsumoto 2023, doi: https://doi.org/10.1093/jb/mvad025
Degradation pathway coupling For some substrates, extraction precedes ubiquitination and proteasomal degradation; evidence places Msp1/ATAD1 upstream of ubiquitin-dependent Cdc48/proteasome clearance for mislocalized TA substrates (matsumoto2023msp1mediatedproofreadingmechanism pages 3-4) Genetics, inhibitor studies, biochemistry Matsumoto 2023, doi: https://doi.org/10.1093/jb/mvad025
Import-stress / translocase quality control Beyond TA proteins, ATAD1/Msp1 extracts stuck import substrates from the mitochondrial outer membrane/translocase system, helping maintain mitochondrial protein import capacity and linking the protein to mitoCPR/import-stress pathways (wang2020msp1atad1inprotein pages 1-2, wang2022conservedstructuralelements pages 1-2, castanzo2020theaaa+atpase pages 1-2) Review, genetics, mechanistic studies Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840; Castanzo et al. 2020, doi: https://doi.org/10.1073/pnas.1920109117
Mechanism of substrate engagement Structural work shows substrate threading through a hydrophobic/aromatic central pore. Human ATAD1 uses pore-loop residues including W166/Y167 to grip substrate; mutations impair activity or peptide binding by >100-fold in some assays (wang2022conservedstructuralelements pages 11-13, wang2022conservedstructuralelements pages 2-3) Cryo-EM, mutagenesis, peptide-binding assays Wang et al. 2022, doi: https://doi.org/10.7554/elife.73941
Processive unfoldase/translocase behavior Msp1/ATAD1-family enzymes act as processive protein translocases/unfoldases that thread substrates through the pore; ATPase activity depends on oligomeric state, supporting a mechanical extraction model for hydrophobic membrane proteins (castanzo2020theaaa+atpase pages 1-2) Biochemical reconstitution, EM Castanzo et al. 2020, doi: https://doi.org/10.1073/pnas.1920109117
Human apoptotic substrate: BIM A key human ATAD1-specific finding is direct, specific extraction of BIM from membranes/mitochondria to inactivate this pro-apoptotic factor. In liposome assays, extraction is ATP-dependent, requires membrane anchoring, and is lost with the catalytic E193Q mutant (winter2022collateraldeletionof pages 1-2, winter2022collateraldeletionof pages 8-9, winter2022collateraldeletionof media 8a98eb16) Reconstituted biochemistry, co-IP, genetics, figure-level assay evidence Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860
Substrate selectivity in apoptosis ATAD1 extraction is selective, not universal for BH3-only proteins: in the reported reconstitution, ATAD1 extracted BIM but not BIK, PUMA, or yeast Fis1 under the same conditions (winter2022collateraldeletionof pages 8-9, winter2022collateraldeletionof media 8a98eb16) Reconstituted biochemistry, figure quantification Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860
Cancer relevance / collateral lethality ATAD1 is adjacent to PTEN on 10q23 and is often co-deleted with PTEN in tumors. ATAD1 loss sensitizes cells and xenografts to proteasome inhibitors by increasing BIM-dependent apoptotic priming, suggesting a therapeutic vulnerability in ATAD1-null cancers (winter2022collateraldeletionof pages 1-2, winter2022collateraldeletionof pages 8-9) Cancer genetics, cell biology, xenografts Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860
Disease/application concept Proposed application: exploit proteasome dysfunction/proteasome inhibitor sensitivity in cancers with ATAD1 loss; this is a preclinical therapeutic concept rather than an approved ATAD1-targeted therapy (winter2022collateraldeletionof pages 1-2) Preclinical translational study Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860
Mitochondrial dynamics (newer role) A 2023 study of the homolog Yta4/ATAD1 identified a role in inhibiting mitochondrial fission by acting on divisome components (Fis1, Mdv1, Dnm1), expanding the conceptual landscape of ATAD1-family biology beyond proteostasis alone (he2023theaaaatpaseyta4atad1 pages 1-2) Genetics, interaction assays, in vitro assembly assays He et al. 2023, doi: https://doi.org/10.1371/journal.pbio.3002247
2023 conceptual update on proofreading 2023 synthesis emphasized Msp1/ATAD1 as a proofreading system for TA protein localization, integrating extraction, GET-mediated rerouting, and selective degradation as a multilayer quality-control network (matsumoto2023msp1mediatedproofreadingmechanism pages 3-4, matsumoto2023msp1mediatedproofreadingmechanism pages 1-2) Review Matsumoto 2023, doi: https://doi.org/10.1093/jb/mvad025
2023-2024 reconstituted assay advance New quantitative reconstituted assays using split-luciferase/defined proteoliposomes enabled controlled testing of substrate selectivity and membrane determinants of extraction, creating a more rigorous platform for ATAD1/Msp1 mechanism studies (fresenius2024theaaa+protein pages 1-3, fresenius2023developmentofac pages 110-116) Method development, reconstitution Fresenius et al. 2024, doi: https://doi.org/10.1101/2023.07.11.548587
2024 substrate-recognition model 2024 work proposed that substrate recognition depends strongly on hydrophobic mismatch between the substrate transmembrane segment and the surrounding bilayer; extraction of a substrate TMD from the membrane appears to be the rate-limiting step (fresenius2024theaaa+protein pages 1-3, fresenius2024theaaa+protein pages 13-21) Reconstituted biochemistry, membrane engineering Fresenius et al. 2024, doi: https://doi.org/10.1101/2023.07.11.548587
2024 energetic/mechanistic direction Emerging 2024 linked-dimer/energetic studies indicate a minimum ATP hydrolysis rate is needed for efficient TMH extraction and suggest mechanistic plasticity in subunit coordination during extraction; relevant to ATAD1 by homology but not yet a direct human ATAD1 paper in the retrieved evidence set (fresenius2024theaaa+protein pages 1-3) Preprint mechanistic biochemistry (family-level inference) Smith et al. 2024, doi: https://doi.org/10.1101/2024.09.23.614443
Synaptic regulation ATAD1/Thorase also has a noncanonical neuronal role in AMPA receptor trafficking. It forms complexes with GluR2 and GRIP1, can disassemble the GluR2–GRIP1 complex in an ATP-dependent manner, and is required for activity-dependent AMPAR internalization/downscaling (wang2020msp1atad1inprotein pages 1-2, wang2020msp1atad1inprotein pages 18-20) Biochemistry, neuronal cell biology, mouse genetics Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840
Neurological phenotypes ATAD1 loss/function compromise is associated with seizures, impaired fear conditioning, worsened post-stroke deficits in mice, and severe human encephalopathy/stiffness/arthrogryposis in homozygous mutation cases; AMPAR antagonists reportedly ameliorated some defects (fresenius2023developmentofac pages 19-23, wang2020msp1atad1inprotein pages 18-20) Mouse genetics, clinical association, review Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840
Other disease associations / databases Open Targets lists ATAD1 associations with hereditary hyperekplexia/hyperekplexia 4 and broader neurodegenerative phenotypes, but these database-level links should be interpreted as hypothesis-generating unless supported by primary studies (OpenTargets Search: -ATAD1) Database Open Targets platform query (context evidence)
Organelle-disease modifier role In Zellweger-spectrum models, ATAD1 overexpression was reported to rescue aspects of mitochondrial dysfunction caused by mislocalized peroxisomal proteins, suggesting a disease-modifier role in organelle proteostasis (fresenius2023developmentofaa pages 19-23) Cell biology, disease-model study Nuebel et al. 2021, doi: https://doi.org/10.15252/embr.202051991
Overall functional annotation Best-supported primary annotation for human ATAD1 is: outer mitochondrial membrane AAA+ extractase/translocase that removes mislocalized TA proteins and stalled import substrates, coupling ATP hydrolysis to membrane protein extraction; additional metazoan-specialized roles include apoptosis control via BIM extraction and neuronal AMPAR trafficking (wang2020msp1atad1inprotein pages 1-2, winter2022collateraldeletionof pages 1-2, wang2022conservedstructuralelements pages 1-2, wang2020msp1atad1inprotein pages 18-20) Integrated review of structure, biochemistry, genetics, disease evidence Chen et al. 2014, doi: https://doi.org/10.15252/embj.201487943; Wang & Walter 2020, doi: https://doi.org/10.1146/annurev-cellbio-031220-015840; Wang et al. 2022, doi: https://doi.org/10.7554/elife.73941; Winter et al. 2022, doi: https://doi.org/10.7554/elife.82860

Table: This table summarizes the main functional annotation evidence for human ATAD1/Thorase (UniProt Q8NBU5), spanning localization, molecular mechanism, substrates, pathways, disease relevance, and translational implications. It highlights both foundational studies and newer 2023-2024 developments in substrate recognition and membrane-extraction mechanism.

Key figure support (extracted image)

Panels from Winter et al. 2022 eLife Figure 2 show ATP-dependent, selective extraction of BIM by ATAD1 in a reconstituted liposome assay. (winter2022collateraldeletionof media 8a98eb16, winter2022collateraldeletionof media eae7fce6)

References (URLs + publication dates where available)

References

  1. (wang2020msp1atad1inprotein pages 1-2): Lan Wang and Peter Walter. Msp1/atad1 in protein quality control and regulation of synaptic activities. Annual Review of Cell and Developmental Biology, 36:141-164, Oct 2020. URL: https://doi.org/10.1146/annurev-cellbio-031220-015840, doi:10.1146/annurev-cellbio-031220-015840. This article has 62 citations and is from a domain leading peer-reviewed journal.

  2. (wang2022conservedstructuralelements pages 1-2): Lan Wang, Hannah Toutkoushian, Vladislav Belyy, Claire Y Kokontis, and Peter Walter. Conserved structural elements specialize atad1 as a membrane protein extraction machine. May 2022. URL: https://doi.org/10.7554/elife.73941, doi:10.7554/elife.73941. This article has 27 citations and is from a domain leading peer-reviewed journal.

  3. (winter2022collateraldeletionof pages 1-2): Jacob M Winter, Heidi L Fresenius, Corey N Cunningham, Peng Wei, Heather R Keys, Jordan Berg, Alex Bott, Tarun Yadav, Jeremy Ryan, Deepika Sirohi, Sheryl R Tripp, Paige Barta, Neeraj Agarwal, Anthony Letai, David M Sabatini, Matthew L Wohlever, and Jared Rutter. Collateral deletion of the mitochondrial aaa+ atpase atad1 sensitizes cancer cells to proteasome dysfunction. eLife, Nov 2022. URL: https://doi.org/10.7554/elife.82860, doi:10.7554/elife.82860. This article has 22 citations and is from a domain leading peer-reviewed journal.

  4. (winter2022collateraldeletionof pages 8-9): Jacob M Winter, Heidi L Fresenius, Corey N Cunningham, Peng Wei, Heather R Keys, Jordan Berg, Alex Bott, Tarun Yadav, Jeremy Ryan, Deepika Sirohi, Sheryl R Tripp, Paige Barta, Neeraj Agarwal, Anthony Letai, David M Sabatini, Matthew L Wohlever, and Jared Rutter. Collateral deletion of the mitochondrial aaa+ atpase atad1 sensitizes cancer cells to proteasome dysfunction. eLife, Nov 2022. URL: https://doi.org/10.7554/elife.82860, doi:10.7554/elife.82860. This article has 22 citations and is from a domain leading peer-reviewed journal.

  5. (wang2020msp1atad1inprotein pages 2-4): Lan Wang and Peter Walter. Msp1/atad1 in protein quality control and regulation of synaptic activities. Annual Review of Cell and Developmental Biology, 36:141-164, Oct 2020. URL: https://doi.org/10.1146/annurev-cellbio-031220-015840, doi:10.1146/annurev-cellbio-031220-015840. This article has 62 citations and is from a domain leading peer-reviewed journal.

  6. (matsumoto2023msp1mediatedproofreadingmechanism pages 5-6): Shunsuke Matsumoto. Msp1-mediated proofreading mechanism for localization of tail-anchored membrane proteins. Journal of biochemistry, 174:13-20, Mar 2023. URL: https://doi.org/10.1093/jb/mvad025, doi:10.1093/jb/mvad025. This article has 4 citations and is from a peer-reviewed journal.

  7. (matsumoto2023msp1mediatedproofreadingmechanism pages 1-2): Shunsuke Matsumoto. Msp1-mediated proofreading mechanism for localization of tail-anchored membrane proteins. Journal of biochemistry, 174:13-20, Mar 2023. URL: https://doi.org/10.1093/jb/mvad025, doi:10.1093/jb/mvad025. This article has 4 citations and is from a peer-reviewed journal.

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Artifacts

Citations

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  2. winter2022collateraldeletionof pages 11-13
  3. fresenius2023developmentofaa pages 19-23
  4. wang2020structureofthe pages 1-2
  5. wang2022conservedstructuralelements pages 1-2
  6. winter2022collateraldeletionof pages 8-9
  7. fresenius2023developmentofab pages 19-23
  8. wang2022conservedstructuralelements pages 2-3
  9. wang2022conservedstructuralelements pages 11-13
  10. fresenius2023developmentofa pages 67-73
  11. fresenius2023developmentofac pages 67-73
  12. fresenius2023developmentofa pages 19-23
  13. fresenius2023developmentofac pages 110-116
  14. fresenius2023developmentofac pages 19-23
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