AAAS encodes ALADIN, a WD-repeat scaffold nucleoporin of the nuclear pore complex. ALADIN is anchored at the nuclear envelope through NDC1 and contributes to normal NPC-associated nucleocytoplasmic transport, especially in tissues affected by triple-A syndrome such as adrenal, gastrointestinal, and neural systems. In mitosis, ALADIN also localizes to spindle structures and helps spatially regulate inactive Aurora A and downstream spindle factors, supporting robust spindle formation and chromosome alignment.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0005643 nuclear pore | IBA GO_REF:0000033 | ACCEPT | Summary: AAAS/ALADIN is a nuclear pore complex nucleoporin. Disease-associated ALADIN variants lose NPC targeting, and NDC1 anchoring is required for ALADIN localization at the nuclear envelope. Reason: The nuclear pore annotation is a central, well-supported cellular component for AAAS. The PN nuclear-pore projection also agrees with existing GOA, but it adds no new term beyond this already captured location. Supporting Evidence: PMID:12730363 ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0006913 nucleocytoplasmic transport | IBA GO_REF:0000033 | ACCEPT | Summary: ALADIN is an NPC-associated protein implicated in normal nucleocytoplasmic transport rather than gross NPC structure. Existing IBA/NAS/IDA transport rows are consistent with the disease-mutant mislocalization evidence and NPC biology. Reason: Nucleocytoplasmic transport is more informative and better scoped for AAAS than the PN-projected broad parent protein transport. I retain this existing transport term and do not add GO:0015031 protein transport from the PN projection. Supporting Evidence: PMID:12730363 We propose that ALADIN plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues. PMID:27016207 The nuclear pore complex (NPC) is the principal gateway for molecular exchange between nucleus and cytoplasm across the nuclear envelope. |
| GO:0000922 spindle pole | IEA GO_REF:0000044 | ACCEPT | Summary: ALADIN localizes to mitotic spindle structures, including the spindle pole, in the AURKA/spindle study. Reason: The mitotic localization is experimentally supported and functionally tied to ALADIN-dependent spatial regulation of Aurora A. This is a genuine AAAS role, distinct from but compatible with its NPC identity. Supporting Evidence: PMID:26246606 Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment. PMID:26246606 ALADIN interacts with inactive Aurora A and is recruited to the spindle pole after Aurora A inhibition. |
| GO:0005635 nuclear envelope | IEA GO_REF:0000044 | ACCEPT | Summary: Nuclear envelope/nuclear membrane localization is consistent with ALADIN being an NPC nucleoporin anchored through NDC1. Reason: This cellular component is well supported by ALADIN-specific localization and anchoring evidence. For the HPA-derived nuclear membrane row, the term is less specific than nuclear pore but still consistent with the NPC location at the nuclear envelope. Supporting Evidence: PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0005643 nuclear pore | IEA GO_REF:0000044 | ACCEPT | Summary: AAAS/ALADIN is a nuclear pore complex nucleoporin. Disease-associated ALADIN variants lose NPC targeting, and NDC1 anchoring is required for ALADIN localization at the nuclear envelope. Reason: The nuclear pore annotation is a central, well-supported cellular component for AAAS. The PN nuclear-pore projection also agrees with existing GOA, but it adds no new term beyond this already captured location. Supporting Evidence: PMID:12730363 ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0005635 nuclear envelope | IDA PMID:24315095 Integrated structural analysis of the human nuclear pore com... | ACCEPT | Summary: The original structural NPC-scaffold source has only abstract text available locally, but independent ALADIN-specific evidence supports nuclear-envelope/NPC localization. Reason: Retain the nuclear envelope annotation because ALADIN is directly shown to be anchored in the nuclear envelope via NDC1. The unavailable original full text limits direct assessment of the 2013 structural study details, so the review also relies on ALADIN-specific localization evidence. Supporting Evidence: PMID:24315095 The nuclear pore complex (NPC) is a fundamental component of all eukaryotic cells that facilitates nucleocytoplasmic exchange of macromolecules. PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005643 nuclear pore | NAS PMID:24315095 Integrated structural analysis of the human nuclear pore com... | ACCEPT | Summary: AAAS/ALADIN is a nuclear pore complex nucleoporin. Disease-associated ALADIN variants lose NPC targeting, and NDC1 anchoring is required for ALADIN localization at the nuclear envelope. Reason: The nuclear pore annotation is a central, well-supported cellular component for AAAS. The PN nuclear-pore projection also agrees with existing GOA, but it adds no new term beyond this already captured location. Supporting Evidence: PMID:12730363 ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0006913 nucleocytoplasmic transport | NAS PMID:27016207 The Structure Inventory of the Nuclear Pore Complex. | ACCEPT | Summary: ALADIN is an NPC-associated protein implicated in normal nucleocytoplasmic transport rather than gross NPC structure. Existing IBA/NAS/IDA transport rows are consistent with the disease-mutant mislocalization evidence and NPC biology. Reason: Nucleocytoplasmic transport is more informative and better scoped for AAAS than the PN-projected broad parent protein transport. I retain this existing transport term and do not add GO:0015031 protein transport from the PN projection. Supporting Evidence: PMID:12730363 We propose that ALADIN plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues. PMID:27016207 The nuclear pore complex (NPC) is the principal gateway for molecular exchange between nucleus and cytoplasm across the nuclear envelope. |
| GO:0005654 nucleoplasm | IDA GO_REF:0000052 | KEEP AS NON CORE | Summary: The HPA-derived nucleoplasm signal is plausible for an NPC-associated protein but is less specific than nuclear pore/nuclear envelope localization. Reason: AAAS should primarily be represented as a nuclear pore/nuclear envelope component. Nucleoplasm localization may reflect immunofluorescence signal or cell-state context and is not the best descriptor of the core site of action. Supporting Evidence: PMID:12730363 ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. |
| GO:0031965 nuclear membrane | IDA GO_REF:0000052 | ACCEPT | Summary: Nuclear envelope/nuclear membrane localization is consistent with ALADIN being an NPC nucleoporin anchored through NDC1. Reason: This cellular component is well supported by ALADIN-specific localization and anchoring evidence. For the HPA-derived nuclear membrane row, the term is less specific than nuclear pore but still consistent with the NPC location at the nuclear envelope. Supporting Evidence: PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0005515 protein binding | IPI PMID:28811369 Obesity-associated gene TMEM18 has a role in the central con... | REMOVE | Summary: This protein binding row comes from a TMEM18 study that reports interaction with NPC components. It does not define a specific AAAS molecular function. Reason: GO:0005515 protein binding is too generic for curation and the source is primarily about TMEM18 biology. The finding may identify AAAS as an NPC component/interactor, but that context is already captured by nuclear pore and nucleocytoplasmic transport annotations. Supporting Evidence: PMID:28811369 We provide evidence that TMEM18 has four, not three, transmembrane domains and that it physically interacts with key components of the nuclear pore complex. |
| GO:0005515 protein binding | IPI PMID:27754849 Identification of a novel putative interaction partner of th... | REMOVE | Summary: The PGRMC2 interaction with ALADIN is experimentally supported, but protein binding is uninformative as a GO molecular-function annotation. Reason: The interaction should be retained as biological evidence in the notes/reference findings, not as the generic GO:0005515 term. No more specific AAAS molecular-function term is supported strongly enough from this interaction alone. Supporting Evidence: PMID:27754849 In an attempt to identify new interaction partners of ALADIN, co-IP analyses showed that PGRMC2 precipitated with ALADIN. |
| GO:0005635 nuclear envelope | IDA PMID:27754849 Identification of a novel putative interaction partner of th... | ACCEPT | Summary: ALADIN is observed at the nuclear envelope/perinuclear region in adrenal-cell interaction experiments with PGRMC2. Reason: This is consistent with the core NPC/nuclear-envelope localization of AAAS. The PGRMC2 paper supports nuclear-envelope localization and an interaction context, but it should not be inflated into a specific transport or steroidogenesis GO process for AAAS. Supporting Evidence: PMID:27754849 We detected that PGRMC2 co-localises with ALADIN and with different FG-repeat NUPs [stained with anti-NPC proteins (mAb414)] to the nuclear envelope and the perinuclear ER. PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0000922 spindle pole | IDA PMID:26246606 The nucleoporin ALADIN regulates Aurora A localization to en... | ACCEPT | Summary: ALADIN localizes to mitotic spindle structures, including the spindle pole, in the AURKA/spindle study. Reason: The mitotic localization is experimentally supported and functionally tied to ALADIN-dependent spatial regulation of Aurora A. This is a genuine AAAS role, distinct from but compatible with its NPC identity. Supporting Evidence: PMID:26246606 Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment. PMID:26246606 ALADIN interacts with inactive Aurora A and is recruited to the spindle pole after Aurora A inhibition. |
| GO:0001578 microtubule bundle formation | IMP PMID:26246606 The nucleoporin ALADIN regulates Aurora A localization to en... | KEEP AS NON CORE | Summary: ALADIN depletion produces shorter, less robust spindles and affects spindle microtubule organization. Reason: The phenotype supports a role in spindle organization, but microtubule bundle formation is a less direct and less informative description than mitotic spindle assembly/AURKA localization. Keep the row as non-core supporting phenotype rather than the main process term. Supporting Evidence: PMID:26246606 Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment. PMID:26246606 ALADIN interacts with inactive Aurora A and is recruited to the spindle pole after Aurora A inhibition. |
| GO:0072686 mitotic spindle | IDA PMID:26246606 The nucleoporin ALADIN regulates Aurora A localization to en... | ACCEPT | Summary: ALADIN localizes to mitotic spindle structures, including the mitotic spindle, in the AURKA/spindle study. Reason: The mitotic localization is experimentally supported and functionally tied to ALADIN-dependent spatial regulation of Aurora A. This is a genuine AAAS role, distinct from but compatible with its NPC identity. Supporting Evidence: PMID:26246606 Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment. PMID:26246606 ALADIN interacts with inactive Aurora A and is recruited to the spindle pole after Aurora A inhibition. |
| GO:0090307 mitotic spindle assembly | IMP PMID:26246606 The nucleoporin ALADIN regulates Aurora A localization to en... | ACCEPT | Summary: ALADIN is required for robust mitotic spindle formation and timely chromosome alignment through spatial regulation of Aurora A and associated spindle factors. Reason: This is directly supported by depletion experiments in human and Drosophila cells and by phenotypes in triple-A patient fibroblasts. It should be retained as a well-supported AAAS biological process. Supporting Evidence: PMID:26246606 Without ALADIN, Aurora A spreads from centrosomes onto spindle microtubules, which affects the distribution of a subset of microtubule regulators and slows spindle assembly and chromosome alignment. PMID:26246606 ALADIN interacts with inactive Aurora A and is recruited to the spindle pole after Aurora A inhibition. |
| GO:0005643 nuclear pore | IDA PMID:12730363 The nuclear pore complex protein ALADIN is mislocalized in t... | ACCEPT | Summary: AAAS/ALADIN is a nuclear pore complex nucleoporin. Disease-associated ALADIN variants lose NPC targeting, and NDC1 anchoring is required for ALADIN localization at the nuclear envelope. Reason: The nuclear pore annotation is a central, well-supported cellular component for AAAS. The PN nuclear-pore projection also agrees with existing GOA, but it adds no new term beyond this already captured location. Supporting Evidence: PMID:12730363 ALADIN localizes to nuclear pore complexes (NPCs), large multiprotein assemblies that are the sole sites of nucleocytoplasmic transport. PMID:19782045 We identified NDC1 but not GP210 and POM121 as the main anchor of ALADIN within the NPC. |
| GO:0016020 membrane | HDA PMID:19946888 Defining the membrane proteome of NK cells. | MARK AS OVER ANNOTATED | Summary: AAAS was detected in a high-throughput membrane proteomics study, but generic membrane localization is much less informative than nuclear envelope/nuclear pore. Reason: The term is not strictly false because the NPC is embedded in the nuclear envelope, but this HDA row loses the important nuclear-pore context and the source study includes many proteins predicted to be transiently associated with membranes. Supporting Evidence: PMID:19946888 The remaining species were largely involved in cellular processes and molecular functions that could be predicted to be transiently associated with membranes. |
| GO:0005634 nucleus | HDA PMID:21630459 Proteomic characterization of the human sperm nucleus. | MARK AS OVER ANNOTATED | Summary: AAAS was detected in a sperm nucleus proteomics data set, but generic nucleus localization is broader than the established nuclear pore/nuclear envelope site. Reason: The nucleus term is broadly compatible with an NPC protein but over-generalizes the curated AAAS localization. Nuclear pore and nuclear envelope should be preferred for functional interpretation. Supporting Evidence: PMID:21630459 With this approach, 403 different proteins have been identified from the isolated sperm nuclei. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-1176059 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-165043 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-165047 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-170796 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-180622 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-192627 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-192925 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-2990880 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-2990882 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-3000348 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-3000399 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-3000411 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4551649 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4551679 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4570493 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4615872 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4615987 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-4655355 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-5228508 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-5228523 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-5252041 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-5661474 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-6783483 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-75096 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-75097 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-75098 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-9614367 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-9614369 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0005635 nuclear envelope | TAS Reactome:R-HSA-9708889 | ACCEPT | Summary: AAAS is correctly placed at the nuclear envelope/NPC, but the Reactome source event should be treated as location context only for this nuclear envelope row. Reason: The Reactome row should be interpreted only as cellular-component support for AAAS/ALADIN being part of the nuclear-envelope/NPC machinery. The specific Reactome events range across viral transport, mRNA/tRNA transport, SUMOylation, and disease pathways and should not be used to infer those pathway processes for AAAS without separate gene-level evidence. Supporting Evidence: PMID:19782045 Based on our findings we conclude that ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. |
| GO:0006913 nucleocytoplasmic transport | IDA PMID:12730363 The nuclear pore complex protein ALADIN is mislocalized in t... | ACCEPT | Summary: ALADIN is an NPC-associated protein implicated in normal nucleocytoplasmic transport rather than gross NPC structure. Existing IBA/NAS/IDA transport rows are consistent with the disease-mutant mislocalization evidence and NPC biology. Reason: Nucleocytoplasmic transport is more informative and better scoped for AAAS than the PN-projected broad parent protein transport. I retain this existing transport term and do not add GO:0015031 protein transport from the PN projection. Supporting Evidence: PMID:12730363 We propose that ALADIN plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues. PMID:27016207 The nuclear pore complex (NPC) is the principal gateway for molecular exchange between nucleus and cytoplasm across the nuclear envelope. |
| GO:0046822 regulation of nucleocytoplasmic transport | NAS PMID:12730363 The nuclear pore complex protein ALADIN is mislocalized in t... | ACCEPT | Summary: The original ALADIN disease-mutant study explicitly proposed a regulatory role in nucleocytoplasmic transport. Reason: This term is a conservative way to capture ALADIN as an NPC-associated regulator/support factor rather than a transport receptor or cargo-specific transporter. It is preferable to adding broad protein transport from the PN projection. Supporting Evidence: PMID:12730363 We propose that ALADIN plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues. PMID:27016207 The nuclear pore complex (NPC) is the principal gateway for molecular exchange between nucleus and cytoplasm across the nuclear envelope. |
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Download this section (compressed HTML)Q: Should AAAS be annotated to a more specific nuclear protein import/export term only if future gene-level evidence identifies affected protein cargos, rather than adding the broad PN-projected GO:0015031 protein transport?
Suggested experts: Cronshaw JM, Matunis MJ, Kind B, Huebner A
Q: Is the ALADIN-PGRMC2 association functionally upstream of adrenal steroidogenesis in vivo, or should it remain an interaction note without a GO process annotation?
Suggested experts: Juehlen R, Koehler K, Huebner A
Experiment: Perform quantitative nuclear/cytoplasmic proteomics or live import/export reporter assays in AAAS-null and rescue human adrenal/neural cell models, with cargo-level validation for candidate proteins.
Hypothesis: ALADIN loss selectively alters nuclear import or export of stress-response or DNA-repair proteins in adrenal and neural cell types.
Type: nucleocytoplasmic transport assay
Experiment: Compare steroidogenic enzyme activity, PGRMC2 localization, and CYP-dependent steroid output in AAAS knockout, NDC1-anchoring-defective rescue, and wild-type rescue adrenocortical cells.
Hypothesis: The ALADIN-PGRMC2 interaction has a specific steroidogenic consequence rather than representing proximity at the perinuclear ER/NPC.
Type: functional rescue and steroidogenesis assay
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