CEP41

UniProt ID: Q9BYV8
Organism: Homo sapiens
Review Status: DRAFT
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Gene Description

CEP41 is a centrosomal and ciliary protein that supports axonemal tubulin glutamylation and microtubule organization. It associates with the polyglutamylase TTLL6 and promotes its access to the cilium, without an established glutamylase activity of its own. CEP41 localizes to centrioles, basal bodies and cilia; loss of CEP41 can disrupt ciliary modification and architecture while leaving initial ciliogenesis intact. Purified human CEP41 also binds and stabilizes microtubules. In endothelial models, CEP41-dependent glutamylation influences ciliary disassembly and vascular cell behavior. Biallelic loss-of-function variants cause Joubert syndrome.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0005515 protein binding
IPI
PMID:22246503
CEP41 is mutated in Joubert syndrome and is required for tub...
MODIFY
Summary: TTLL6 enzyme association supports a more informative binding term.
Reason: PMID:22246503 Fig. 4b reports pairwise tagged CEP41–TTLL6 co-immunoprecipitation. TTLL6 is the tubulin polyglutamylase partner, supporting enzyme binding rather than an unspecified protein association. The experiment establishes complex association, not a purified binary interface. The Methods describe both human EGFP/HA and mouse GST/EGFP/FLAG CEP41 constructs; the HEK293 host alone does not establish the species of every Figure 4b construct. Preserve the original human IPI and Q8N841 partner; do not assign TTLL6 catalysis or a motor-adaptor bridge to CEP41.
Proposed replacements: enzyme binding
Supporting Evidence:
PMID:22246503
part of a complex
GO:0005813 centrosome
IDA
PMID:14654843
Proteomic characterization of the human centrosome by protei...
ACCEPT
Summary: Centrosomal localization is supported independently of the original proteomic screen.
Reason: The original human centrosome IDA is retained. PMID:14654843 is available as an abstract and the exact target-level original screen output was not recovered; no claim of reading its CEP41 image or peptide table is made. Independent target-specific localization in PMID:22246503 Fig. 2b establishes centriolar/centrosomal CEP41 in human hTERT-RPE1 cells, supporting the biological location without changing the original provenance.
Supporting Evidence:
GO:0005813 centrosome
IDA
PMID:21399614
Novel asymmetrically localizing components of human centroso...
ACCEPT
Summary: Centrosomal CEP41 agrees with independent target-specific microscopy.
Reason: Selected main text of the human PCP-SILAC/BAC/immunofluorescence study was read, but the preserved cache omits much of the target tables and the exact CEP41 output was not independently recovered. Retain the curated IDA because independent human CEP41 imaging in PMID:22246503 Fig. 2b supports the same location. This does not turn that independent experiment into the original screen evidence.
Supporting Evidence:
GO:0005813 centrosome
IEA
GO_REF:0000044
ACCEPT
Summary: The UniProt centrosome mapping is consistent with direct localization.
Reason: The conservative SL-0048 mapping agrees with target-specific centrosomal/centriolar imaging. Retain the broad location without assigning all functions of the centrosome to CEP41.
Supporting Evidence:
GO:0005814 centriole
IDA
PMID:22246503
CEP41 is mutated in Joubert syndrome and is required for tub...
ACCEPT
Summary: CEP41 is localized at centrioles.
Reason: PMID:22246503 Fig. 2b and Results report endogenous CEP41 at centrioles and cilia in human hTERT-RPE1 and mouse IMCD3 cells. This is a direct location assertion and does not imply that CEP41 catalyzes centriole duplication.
Supporting Evidence:
GO:0005814 centriole
IEA
GO_REF:0000120
ACCEPT
Summary: The combined centriole inference agrees with experimental localization.
Reason: Preserve the original ARBA and mouse/Ensembl source identifiers. Direct target localization and the mouse IDA from PMID:22246503 support the same compartment; no product-specific location is inferred from the unqualified row.
Supporting Evidence:
GO:0005829 cytosol
TAS
Reactome:R-HSA-2574840
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-2574840. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-2574840
GO:0005829 cytosol
TAS
Reactome:R-HSA-2574845
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-2574845. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-2574845
GO:0005829 cytosol
TAS
Reactome:R-HSA-3000310
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-3000310. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-3000310
GO:0005829 cytosol
TAS
Reactome:R-HSA-3000319
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-3000319. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-3000319
GO:0005829 cytosol
TAS
Reactome:R-HSA-380272
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380272. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380272
GO:0005829 cytosol
TAS
Reactome:R-HSA-380283
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380283. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380283
GO:0005829 cytosol
TAS
Reactome:R-HSA-380294
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380294. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380294
GO:0005829 cytosol
TAS
Reactome:R-HSA-380303
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380303. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380303
GO:0005829 cytosol
TAS
Reactome:R-HSA-380311
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380311. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380311
GO:0005829 cytosol
TAS
Reactome:R-HSA-380316
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380316. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380316
GO:0005829 cytosol
TAS
Reactome:R-HSA-380455
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380455. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380455
GO:0005829 cytosol
TAS
Reactome:R-HSA-380508
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-380508. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-380508
GO:0005829 cytosol
TAS
Reactome:R-HSA-5617816
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5617816. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5617816
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626220
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626220. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626220
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626223
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626223. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626223
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626227
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626227. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626227
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626228
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626228. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626228
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626681
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626681. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626681
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626699
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5626699. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5626699
GO:0005829 cytosol
TAS
Reactome:R-HSA-5638009
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-5638009. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-5638009
GO:0005829 cytosol
TAS
Reactome:R-HSA-8853405
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-8853405. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-8853405
GO:0005829 cytosol
TAS
Reactome:R-HSA-8853419
KEEP AS NON CORE
Summary: Reactome records CEP41 in the cytosolic centrosome inventory.
Reason: The exact human Reactome entity R-HSA-380269 identifies Q9BYV8 in GO:0005829 cytosol, and the current accession-to-reactions response includes R-HSA-8853419. Retain this broad curated compartment at non-core resolution. Membership in the centrosome entity used by this event does not establish that CEP41 performs the reaction named by its title. The ciliary/centriolar compartments are more informative for its major function.
Supporting Evidence:
Reactome:R-HSA-8853419
IDA
GO_REF:0000052
ACCEPT
Summary: Ciliary localization agrees with independent primary imaging.
Reason: The original immunofluorescence curation is preserved; its individual source image was not re-read. PMID:22246503 supplies independent target-specific ciliary localization and CEP41-dependent ciliary modification evidence.
Supporting Evidence:
IDA
PMID:22246503
CEP41 is mutated in Joubert syndrome and is required for tub...
ACCEPT
Summary: CEP41 localizes to cilia.
Reason: PMID:22246503 Fig. 2b localizes endogenous CEP41 at cilia and centrioles in ciliated mammalian cells, including human hTERT-RPE1. Retain the cilium location without assuming uniform axonemal distribution or identical localization of every alternative product.
Supporting Evidence:
IEA
GO_REF:0000120
ACCEPT
Summary: The combined cilium mapping is corroborated by target experiments.
Reason: Preserve mouse/Ensembl and SL-0066 support. Human and mouse localization evidence in PMID:22246503 is consistent with the cilium compartment. The mouse source also has an independent IDA from PMID:22326026 in the retrieved donor record, which is recorded as provenance rather than a newly inspected experiment.
Supporting Evidence:
GO:0016020 membrane
HDA
PMID:19946888
Defining the membrane proteome of NK cells.
UNDECIDED
Summary: The exact CEP41 membrane-proteomics detection remains unverified.
Reason: PMID:19946888 describes isolated YTS-cell membrane fractions analyzed by LC-MS and explicitly includes both integral and associated proteins. Its target-level supplementary workbook jms1696_Suppinfotable1.xls was identified on the publisher page, but retrieval returned access-denied HTML rather than a spreadsheet. The exact CEP41/Q9BYV8 hit therefore was not independently inspected. Preserve the HDA and use UNDECIDED; absence of a predicted transmembrane segment would not refute the broad GO membrane definition.
Supporting Evidence:
GO:0018095 protein polyglutamylation
ISS
GO_REF:0000024
KEEP AS NON CORE
Summary: CEP41 contributes noncatalytically to ciliary tubulin polyglutamylation.
Reason: The full study supports the broader involved_in assertion without assigning glutamyl-transfer activity to CEP41. Human patient fibroblasts retain cilia but lose tubulin GT335/PolyE modification, and exogenous CEP41 restores the modification endpoint. Tagged complex association with TTLL6 and the separate mouse IMCD3 experiment, in which Cep41 depletion restricts TTLL6 mainly to basal bodies, provide a mechanistic link through enzyme targeting. Together these support a noncatalytic contribution to ciliary polyglutamylation; lack of a purified reaction-level cofactor assay does not invalidate broader process involvement. Retain this modification process as non-core and describe the more directly resolved targeting work in the localization core. The original ISS assertion and zebrafish Q6GQN0 donor remain unchanged; the human outcome/rescue and mouse localization results are separately identified corroborating evidence, not a reissued fish or human targeting annotation.
Supporting Evidence:
PMID:22246503
block of entry of TTLL6
GO:0036064 ciliary basal body
IBA
GO_REF:0000033
ACCEPT
Summary: Basal-body activity is consistent with the inherited ciliary targeting role.
Reason: The PAINT assertion is an ancestral inference at PTN002893044, not a pairwise transfer. Target self-inclusion and a short donor list are legitimate. CEP41 localization together with TTLL6 complex association and restricted TTLL6 entry after Cep41 depletion corroborate a functional role at the basal-body/cilium interface. This supports retaining is_active_in without calling simple localization a catalytic assay. The complete ancestral-node history was not reconstructed.
Supporting Evidence:
GO:0036064 ciliary basal body
IDA
GO_REF:0000052
ACCEPT
Summary: CEP41 occupies the ciliary basal body.
Reason: Retain the original immunofluorescence-curation provenance. Basal-body localization and the basal-body/cilium TTLL6 targeting defect in PMID:22246503 support this anatomical assignment. The original qualifier remains located_in and is not rewritten to a claim of enzyme activity.
Supporting Evidence:
GO:0036064 ciliary basal body
IDA
PMID:22246503
CEP41 is mutated in Joubert syndrome and is required for tub...
ACCEPT
Summary: CEP41 occupies the ciliary basal body.
Reason: Retain the original direct experimental provenance. Basal-body localization and the basal-body/cilium TTLL6 targeting defect in PMID:22246503 support this anatomical assignment. The original qualifier remains located_in and is not rewritten to a claim of enzyme activity.
Supporting Evidence:
GO:0036064 ciliary basal body
IEA
GO_REF:0000107
ACCEPT
Summary: CEP41 occupies the ciliary basal body.
Reason: Retain the original Ensembl orthology provenance. Basal-body localization and the basal-body/cilium TTLL6 targeting defect in PMID:22246503 support this anatomical assignment. The original qualifier remains located_in and is not rewritten to a claim of enzyme activity.
Supporting Evidence:
GO:0060271 cilium assembly
IBA
GO_REF:0000033
ACCEPT
Summary: CEP41 contributes to ciliary architecture without being universally required for initial ciliogenesis.
Reason: PMID:22246503 reports abnormal zebrafish axonemal A-tubules and impaired ciliary motility after cep41 depletion, while human near-null fibroblasts retain ARL13B-positive cilia. PMID:31885126 also separates initial ciliation from glutamylation, ciliary length and disassembly in endothelial models. Retain the existing assembly assertion in its structural maturation context as a core structural role; do not describe CEP41 as an indispensable initiator of ciliogenesis. The PAINT node PTN002893044 and its descendant sources are preserved; no ancestral placement error is inferred from nonessentiality or self-donor support. Mouse ependymal structural and RNAi evidence independently corroborates multiciliogenesis involvement (PMID:40593728), with species and maturation limits retained.
GO:0060271 cilium assembly
IEA
GO_REF:0000120
ACCEPT
Summary: CEP41 contributes to ciliary architecture without being universally required for initial ciliogenesis.
Reason: PMID:22246503 reports abnormal zebrafish axonemal A-tubules and impaired ciliary motility after cep41 depletion, while human near-null fibroblasts retain ARL13B-positive cilia. PMID:31885126 also separates initial ciliation from glutamylation, ciliary length and disassembly in endothelial models. Retain the existing assembly assertion in its structural maturation context as a core structural role; do not describe CEP41 as an indispensable initiator of ciliogenesis. The electronic mouse/ARBA sources are preserved and evaluated against target and ortholog evidence. Mouse ependymal structural and RNAi evidence independently corroborates multiciliogenesis involvement (PMID:40593728), with species and maturation limits retained.
GO:0060271 cilium assembly
IMP
PMID:22246503
CEP41 is mutated in Joubert syndrome and is required for tub...
ACCEPT
Summary: CEP41 contributes to ciliary architecture without being universally required for initial ciliogenesis.
Reason: PMID:22246503 reports abnormal zebrafish axonemal A-tubules and impaired ciliary motility after cep41 depletion, while human near-null fibroblasts retain ARL13B-positive cilia. PMID:31885126 also separates initial ciliation from glutamylation, ciliary length and disassembly in endothelial models. Retain the existing assembly assertion in its structural maturation context as a core structural role; do not describe CEP41 as an indispensable initiator of ciliogenesis. The experimental IMP is preserved; the actual formation-versus-architecture distinction was read in the full original Results. Mouse ependymal structural and RNAi evidence independently corroborates multiciliogenesis involvement (PMID:40593728), with species and maturation limits retained.
Supporting Evidence:
PMID:22246503
not necessary for initial cilia assembly
GO:0008017 microtubule binding
IDA
PMID:38841887
CEP41, a ciliopathy-linked centrosomal protein, regulates mi...
NEW
Summary: Purified human CEP41 directly binds preformed microtubules.
Reason: PMID:38841887 tests full-length human CEP41 encoded by NM_018718.3 (373 residues), produced in bacteria with its His tag removed before the purified-protein experiments. CEP41 co-sediments with preformed taxol-stabilized microtubules assembled from goat-brain tubulin, whereas the protein remains soluble without microtubules under the same centrifugation conditions. This directly supports microtubule binding independently of the cellular co-IP, localization or perturbation assays. It does not establish a human atomic lattice interface, processive plus-end polymerase activity, a particular physiological tubulin subtype or equivalent activity of every alternative product. The existing enzyme-binding refinement concerns TTLL6 association and does not cover this direct microtubule interaction.
Supporting Evidence:
PMID:38841887
Purified CEP41 binds to preformed microtubules

Core Functions

CEP41 associates with TTLL6 and supports its ciliary access, thereby facilitating axonemal tubulin glutamylation. The measured binding/targeting role is noncatalytic; tagged complex association and mammalian localization experiments do not by themselves identify an IFT motor bridge.

Molecular Function:
enzyme binding
Directly Involved In:
Cellular Locations:
Supporting Evidence:

Human CEP41 binds microtubules and promotes their assembly and stability in purified-protein assays. Mouse ependymal evidence links its microtubule-associated structural role to motile-cilium maturation; initial human fibroblast ciliation can remain intact without CEP41.

Molecular Function:
microtubule binding
Directly Involved In:
Supporting Evidence:

References

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Suggested Questions for Experts

Q: Which CEP41 surfaces directly recognize TTLL6, and does CEP41 couple it to a defined ciliary entry or motor complex?

Q: How are direct microtubule binding and TTLL6 targeting separated across the four CEP41 products and in different ciliary cell types?

Q: What establishes the original membrane-proteomic CEP41 identification, and which membrane-associated pool did it measure?

Q: How does the luminal CEP41 assignment in motile cilia relate to TTLL6-dependent modification of externally exposed tubulin tails?

Suggested Experiments

Experiment: Compare human CEP41 products and separation-of-function mutants in CEP41-deficient cells, measuring TTLL6 entry, axonemal glutamylation, ciliary architecture and direct microtubule binding independently.

Experiment: Reconstitute CEP41–TTLL6 association with purified, sequence-defined proteins before testing candidate ciliary trafficking partners; distinguish binary binding from cellular complex association.

πŸ“š Additional Documentation

Notes

(CEP41-notes.md)

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