ALMS1 is a large centrosome-associated protein concentrated at the proximal ends of centrioles and ciliary basal bodies. It supports centrosome cohesion and the organization of intracellular trafficking, including endosomal recycling. Loss of ALMS1 disrupts the localization of centrosome-cohesion machinery and alters transferrin recycling and actin organization in human cells. Its precise molecular activity and the relationship between its centriolar and trafficking roles remain incompletely defined. Biallelic pathogenic variants cause AlstrΓΆm syndrome, with progressive sensory, metabolic and other organ involvement.
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0000922 spindle pole | IEA GO_REF:0000044 | ACCEPT | Summary: ALMS1 is associated with centrosomal spindle poles. Reason: The source UniProt subcellular-location mapping is consistent with centrosomal ALMS1 persisting at mitotic spindle poles. The MDCK antibody observations in PMID:22693585 corroborate this in canine cells and are not represented as a human construct assay. Supporting Evidence: PMID:22693585 ALMS1-Ntr localized to the centrosomal spindle poles throughout mitosis |
| GO:0005515 protein binding | IPI PMID:31413325 HENA, heterogeneous network-based data set for Alzheimer's d... | UNDECIDED | Summary: The precise ALMS1βDISC1 experimental interaction record remains unverified. Reason: The HENA paper reports experimental yeast-two-hybrid and integrated interaction data, but the target-specific ALMS1βDISC1 supplementary record has not been independently recovered. Generic protein binding is uninformative and would normally be replaced by a supported specific activity or removed for lack of functional information. Here the relevant experimental evidence remains unresolved, so the explicit source-access rule takes precedence and the annotation remains UNDECIDED. Verified paper identity does not verify this interaction record. This judgment neither rejects the interaction nor asserts that network experiments cannot inform molecular function; no specific replacement is established. |
| GO:0005515 protein binding | IPI PMID:33961781 Dual proteome-scale networks reveal cell-specific remodeling... | UNDECIDED | Summary: The precise ALMS1βDISC1 experimental interaction record remains unverified. Reason: The BioPlex paper reports human affinity-purification mass-spectrometry networks, but the target-specific ALMS1βDISC1 supplementary record has not been independently recovered. Generic protein binding is uninformative and would normally be replaced by a supported specific activity or removed for lack of functional information. Here the relevant experimental evidence remains unresolved, so the explicit source-access rule takes precedence and the annotation remains UNDECIDED. Verified paper identity does not verify this interaction record. This judgment neither rejects the interaction nor asserts that network experiments cannot inform molecular function; no specific replacement is established. |
| GO:0005737 cytoplasm | IEA GO_REF:0000044 | ACCEPT | Summary: Retain the cytoplasmic localization of ALMS1. Reason: The UniProt subcellular-location mapping is consistent with the cytoplasmic centrosomal and trafficking-associated pools documented for ALMS1. A broad location is not non-core merely because more precise locations are available. The compact core records the experimentally resolved centriolar sites. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005813 centrosome | IBA GO_REF:0000033 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IBA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005813 centrosome | IDA GO_REF:0000052 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IDA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005813 centrosome | IDA PMID:15855349 Subcellular localization of ALMS1 supports involvement of ce... | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: The original abstract explicitly reports ALMS1 centrosome and ciliary-base localization by immunofluorescence. Human high-resolution imaging in PMID:20844083 independently supports the same compartment; the original source is abstract-only here. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies PMID:15855349 We show that ALMS1 is widely expressed and localizes to centrosomes and to the base of cilia. |
| GO:0005813 centrosome | IDA PMID:21399614 Novel asymmetrically localizing components of human centroso... | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Retain the curated centrosome IDA: the source describes human centrosome proteomics and imaging, and independent ALMS1 microscopy directly supports the location. Its target-specific supplementary record was not independently recovered; absence from the extracted narrative is not a wrong-gene finding. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005813 centrosome | IEA GO_REF:0000044 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IEA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005814 centriole | IBA GO_REF:0000033 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IBA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005814 centriole | IDA GO_REF:0000052 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IDA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005814 centriole | IDA PMID:20844083 Centriolar association of ALMS1 and likely centrosomal funct... | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IDA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0005829 cytosol | IBA GO_REF:0000033 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: Retain the PAINT localization judgment. Independent human-cell immunofluorescence in the Human Protein Atlas reports supported cytosol localization, including two antibodies in U2OS. The target occurring among descendant evidence is expected for IBA and is not circular. This corroboration does not claim that the complete PAINT ancestral-node placement was independently re-curated. |
| GO:0005829 cytosol | IDA GO_REF:0000052 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: GO_REF:0000052 is the curated immunofluorescence source. The Human Protein Atlas ALMS1 page reports cytosol as a supported main location; both HPA035276 and HPA043200 show cytosol in U2OS, with additional cell lines listed. This is actual cytosol evidence, distinct from proximal-centriole imaging. Retain the location without inferring an autonomous molecular activity from antibody staining. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-2574840 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "AJUBA facilitates AURKA autophosphorylation" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-2574845 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "AJUBA binds centrosome-associated AURKA" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-3000310 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "AURKA phosphorylates PLK1" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-3000319 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "BORA binds PLK1 and AURKA" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380272 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Plk1-mediated phosphorylation of Nlp" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380283 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380294 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Loss of C-Nap-1 from centrosomes" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380303 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Dissociation of Phospho-Nlp from the centrosome" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380311 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Recruitment of Plk1 to centrosomes" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380316 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Association of NuMA with microtubules" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380455 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Recruitment of CDK11p58 to the centrosomes" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-380508 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Translocation of NuMA to the centrosomes" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5617816 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "RAB3IP stimulates nucleotide exchange on RAB8A " supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626220 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "C2CD3 binds the mother centriole" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626223 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626227 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "CP110 and CEP97 dissociate from the centriole" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626228 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "The distal appendage proteins recruit TTBK2" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626681 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "Recruitment of transition zone proteins" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5626699 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "MARK4 binds ODF2 in the centriole" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-5638009 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-8853405 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "TPX2 binds AURKA at centrosomes" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0005829 cytosol | TAS Reactome:R-HSA-8853419 | ACCEPT | Summary: Retain the cytosol location, supported by human-cell immunofluorescence. Reason: The cached event "TPX2 promotes AURKA autophosphorylation" supplies a curated location assertion in a larger centrosomal/ciliary model. The current Human Protein Atlas ALMS1 page independently reports supported cytosol staining in human cells, including two antibodies in U2OS. Retain this location; the event summary does not independently establish an ALMS1-specific assay or show that ALMS1 performs the reaction named in its title. Proximal-centriole imaging is not used as proof of fluid cytosol localization. |
| GO:0015630 microtubule cytoskeleton | IDA GO_REF:0000052 | KEEP AS NON CORE | Summary: Retain the observed microtubule-associated pool as non-core. Reason: The GO_REF:0000052 immunofluorescence annotation is corroborated by the Human Protein Atlas: HPA035276 labels microtubules in U2OS, and microtubules are a supported additional location. The independently characterized organizational roles concern centriolar cohesion and endosomal recycling; the function of this additional staining pattern remains undefined. Retain the observation as non-core without equating localization with direct microtubule-binding activity. Centriole imaging is not offered as evidence for the separate microtubule staining pattern. |
| GO:0016197 endosomal transport | IMP PMID:22693585 The AlstrΓΆm syndrome protein, ALMS1, interacts with Ξ±-actini... | ACCEPT | Summary: ALMS1 contributes to normal endosomal recycling in human fibroblasts. Reason: The original study directly measures delayed transferrin exit from the recycling compartment in human patient fibroblasts. Positive interaction evidence also connects ALMS1 to actin-associated recycling machinery: mouse C-terminal bait interactions with ACTN1/4, MYO5B and RINT1, mouse-kidney ACTN4 co-immunoprecipitation, and canine MDCK localization. Retain the curator-supported endosomal-transport assertion with these organism and assay boundaries. The proposed CART-associated transport subcomplex is explicitly a model: no rescue or separation-of-function experiment connects an ALMS1 binding interface to the human recycling defect. The evidence does not establish a motor or transporter molecular activity, and the compact core therefore retains qualified recycling prose without a separately asserted directly_involved_in process. This core boundary does not depend on the inert source qualifier. Supporting Evidence: PMID:22693585 the exit of Tf-Alexa 647 from the recycling compartment was significantly delayed in ALMS fibroblasts compared to controls |
| GO:0036064 ciliary basal body | IDA GO_REF:0000052 | ACCEPT | Summary: ALMS1 localizes at the proximal ends of centrioles and ciliary basal bodies. Reason: Human ALMS1 imaging in PMID:20844083 directly resolves this localization. This supports the existing IDA assertion independently of whether the source is a direct assay, curated imaging resource, or ancestral localization inference. Localization does not imply an enzymatic activity. Supporting Evidence: PMID:20844083 ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies |
| GO:0046599 regulation of centriole replication | IBA GO_REF:0000033 | UNDECIDED | Summary: The ancestral centriole-replication inference needs resolution against ALMS1-specific assembly and cohesion evidence. Reason: Human ALMS1 depletion in PMID:20844083 affects C-Nap1 retention and parental-centriole cohesion, while centriole acetylated-tubulin staining persists. The same paper separately assays KIAA1731, and those findings are not interchangeable with ALMS1. The PAINT node represents a phylogenetic judgment, not a pairwise donor transfer; its full placement has not been independently resolved here. These observations do not refute conserved duplication regulation, but do not establish which replication step human ALMS1 regulates. The newer full article PMID:40021845 places human ALMS1 recruitment after procentriole initiation, whereas the Plk4-Ana2 amplification and cartwheel perturbation experiments are in flies. Its discussion explicitly considers mammalian divergence or shared function. This supports retaining UNDECIDED about the human replication inference, rather than rejecting the positive fly mechanism or transferring it without resolving the ancestral placement. Propagation Review Root cause: UNRESOLVED Sources checked: PANTHER:PTN000489313 Β· PANTHER:PTN000489313 UNRESOLVED The source node is retained from GOA. Complete PAINT node placement has not been independently resolved; ALMS1 cohesion and KIAA1731 duplication findings must be distinguished. No donor-count or pairwise-transfer argument is made. Supporting Evidence: PMID:20844083 depletion of ALMS1 leads to a reduction in the level of C-Nap1 at the centrosome, resulting in compromised centrosome cohesion |
| GO:0051492 regulation of stress fiber assembly | IMP PMID:22693585 The AlstrΓΆm syndrome protein, ALMS1, interacts with Ξ±-actini... | KEEP AS NON CORE | Summary: Altered actin stress-fiber organization is a supported cellular consequence of ALMS1 disruption. Reason: Patient fibroblasts in the cited study retain long stress fibers but exhibit abnormal cross-filaments and shortened perinuclear actin structures. Retain regulation of stress-fiber assembly as a non-core cellular role. The study does not show that ALMS1 itself crosslinks actin; the mouse ALMS1/alpha-actinin interaction assays do not identify a purified human activity. Supporting Evidence: PMID:22693585 Similar to controls, ALMS fibroblast displayed long, dense stress fibers, however many cells had nonuniform cross filaments. |
| GO:0120162 positive regulation of cold-induced thermogenesis | ISS PMID:27803297 Defective adaptive thermogenesis contributes to metabolic sy... | UNDECIDED | Summary: The mouse thermogenesis phenotype does not resolve the scope of the human ISS assertion. Reason: The available primary abstract reports impaired cold/high-fat-diet thermogenic adaptation, lower sympathetic tone in brown adipose tissue, and improvement after intermittent cold exposure in foz/foz mice. The official mouse annotation record independently preserves an IMP donor assertion from this study. GO:0120162 describes positive regulation and can include neural or endocrine control; it does not require ALMS1 to be a brown-adipocyte enzyme or local thermogenic executor. The full donor experiments remain inaccessible, leaving the regulatory role, tissue of action and scope of transfer to human ALMS1 unresolved. Retain UNDECIDED rather than deny the positive mouse phenotype, demand direct human experiments for ISS, or infer a regulatory mechanism solely from the whole-animal defect. Supporting Evidence: PMID:27803297 Thermogenic adaptation to high-fat diet (HFD) or to cold exposure was severely impaired in foz/foz mice compared with HFD-fed WT littermates due to lower sympathetic tone in their brown adipose tissue (BAT). |
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Download this section (compressed HTML)Q: Which ALMS1 domains couple proximal centriole organization and C-Nap1 retention to ciliary elongation, and how are these functions separated from centriole duplication?
Q: Do ALMS1 interactions with ACTN4, MYO5B or RINT1 directly organize an endosomal recycling complex in human cells, and can interface-specific rescue separate recycling from centrosomal defects?
Q: Does ALMS1 promote adaptive thermogenesis through neural or endocrine control, an adipocyte-autonomous role, or secondary systemic effects, and which regulatory function is conserved between mouse and human?
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