CEP164

UniProt ID: Q9UPV0
Organism: Homo sapiens
Review Status: DRAFT
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Gene Description

CEP164 is a coiled-coil and WW-domain protein of mother-centriole distal appendages, extending toward their outer membrane-docking region. Its N-terminal region directly binds TTBK2 and recruits the kinase to the mother centriole, enabling early events in primary-cilium assembly. The C-terminal region targets CEP164 to appendages and binds Rabin8; CEP164 also supports ciliary membrane organization and centrosomal Rab8 accumulation; recent ultrastructure places its requirement after initial small-vesicle docking, in vesicle enlargement. Rab8 association in cell extracts is distinct from the direct Rabin8 interaction. Biallelic CEP164 variants cause a ciliopathy that can include nephronophthisis and retinal degeneration. Reported nuclear localization and DNA-damage-response functions remain contextually disputed.

Existing Annotations Review

GO Term Evidence Action Reason
GO:0005515 protein binding
IPI
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking r...
KEEP AS NON CORE
Summary: Weak CEP164–NPHP4 association in the original human-protein co-IP experiment.
Reason: The full 22863007 Results and NPHP interaction Methods report weak association after expressing human V5-CEP164 and FLAG-NPHP4 in HEK293T cells. This is positive complex-association evidence, not a purified binary interface or transfer of NPHP4 function. The current exact IntAct query did not return this pair, which does not negate the original experiment. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
PMID:22863007
We detected interaction of CEP164 with NPHP3 and weakly with NPHP4
file:human/CEP164/CEP164-manual-evidence.md
GO:0005515 protein binding
IPI
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking r...
KEEP AS NON CORE
Summary: CCDC92 is a supported CEP164 interaction partner.
Reason: The original Y2H study and subsequent pull-down/co-IP validation support this human pair. The bounded extract includes positive co-IP records EBI-6267702 and EBI-6267683 in COS-1 hosts; participant species are human. Its colocalization records are not treated as independent binding assays. A distinct CEP164 molecular activity cannot be assigned merely from CCDC92 association. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-6267702
GO:0005515 protein binding
IPI
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking r...
MODIFY
Summary: The TTBK2 interaction is specifically protein kinase binding.
Reason: The original human pair is supported by Y2H and co-IP records, including EBI-6267581 with mapped fragments. Independent human-protein studies establish the CEP164 WW-domain contact and recruitment of TTBK2 to mother centrioles. GO:0019901 captures this measured interaction. Recruitment does not imply that CEP164 catalyses phosphorylation or activates the kinase; the later isolated-NTD assay did not enhance TTBK2 autophosphorylation.
Proposed replacements: protein kinase binding
Supporting Evidence:
PMID:24982133
Cep164 and TTBK2 form a complex
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-6267581
GO:0005515 protein binding
IPI
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking r...
KEEP AS NON CORE
Summary: CEP164 associates with NPHP3 in tagged human-protein co-IP assays.
Reason: The original full Methods/Results and positive records EBI-6267735 and EBI-6267743 agree on the human CEP164–NPHP3 pair in HEK293T cells. The FLAG/V5 expression context supports association, without resolving an isolated binding interface or an additional molecular activity. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-6267735
GO:0005515 protein binding
IPI
PMID:22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking r...
KEEP AS NON CORE
Summary: DVL3 association is supported by the target-specific original experiments.
Reason: The paper reports endogenous-DVL3 immunoprecipitation/MS, CEP164-fragment pull-down and co-IP/domain mapping. Exact positive human-pair records include EBI-6284885 and EBI-6284852. These assays support the pair, not transfer of DVL3 Wnt-signaling activity to CEP164. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
PMID:22863007
using endogenous Dvl3 as bait
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-6284885
GO:0005515 protein binding
IPI
PMID:23530209
CCDC41 is required for ciliary vesicle docking to the mother...
KEEP AS NON CORE
Summary: The original source supports association with CEP83/CCDC41.
Reason: The authentic abstract explicitly reports the CEP164–CCDC41 interaction, and the original curator assigned IPI to this exact pair. The full target assay has not yet been independently recovered, so no purified direct interaction or precise construct is asserted. This is sufficient to retain the reported correct association; lack of a current IntAct pair is not a negative result. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
PMID:23530209
interacts with centrosomal protein 164 (Cep164), a distal appendage component.
file:human/CEP164/CEP164-manual-evidence.md
GO:0005515 protein binding
IPI
PMID:32296183
A reference map of the human binary protein interactome.
KEEP AS NON CORE
Summary: HuRI supplies positive CEP164–CLP1 binary-screen records.
Reason: The exact PMID/accession join returns three human-participant Y2H records: EBI-24375806 (validated), EBI-24826801 (pooling) and EBI-22960351 (array). The assay uses yeast hosts and fusion constructs, and all three records have negative=false. This supports the source-scoped screened pair, without proving physiological encounter or assigning CLP1 RNA-processing functions to CEP164. The ClinGen campaign retains supported generic binding as non-core when no better supported molecular activity is established.
Supporting Evidence:
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-24375806
GO:0005515 protein binding
IPI
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling...
MODIFY
Summary: The BioPlex TTBK2 pair can be refined to protein kinase binding.
Reason: Record EBI-54792267 matches the original human CEP164–TTBK2 pair and PMID, with C-terminally tagged CEP164 bait in HEK293T cells. Affinity co-complex evidence alone is not a direct interface assay; independent 24982133/34499853 binding, mapping and rescue studies establish the specific kinase interaction and its recruitment role. Preserve the original screen assertion while refining its MF.
Proposed replacements: protein kinase binding
Supporting Evidence:
PMID:34499853
CEP1641βˆ’109 and TTBK21074βˆ’1087 are sufficient to bind to each other
file:human/CEP164/CEP164-source-evidence.yaml
intact:EBI-54792267
GO:0005576 extracellular region
HDA
PMID:22664934
Comparison of tear protein levels in breast cancer patients ...
KEEP AS NON CORE
Summary: CEP164 is listed in the original human tear-fluid proteomics table.
Reason: Full XML Table II (tII-or-28-02-0429) contains CE164_HUMAN / CEP164, directly resolving the target omitted from the text-only cache. The pooled Schirmer-strip tear proteomics observation supports the HDA located_in assertion as a non-core sample detection. It does not establish secretion, extracellular activity, or the route by which CEP164 entered the sample; cell debris is not proven.
Supporting Evidence:
file:human/CEP164/CEP164-source-evidence.yaml
CE164_HUMAN
GO:0005634 nucleus
IEA
GO_REF:0000044
UNDECIDED
Summary: The nucleus mapping has conflicting experimental localization evidence.
Reason: Preserve the UniProt SL-0191 electronic source. The original 18283122 Fig. 1C and fractionation report nuclear endogenous and GFP-CEP164 in HeLa cells, using a 1455-aa construct. In 26966185, human RPE-1 knockout/rescue and multiple tagged forms/antibodies did not reproduce nuclear localization or a DNA-repair defect in the tested contexts. HPA also reports a nuclear signal in some cell lines. A context-specific pool versus reagent/construct effects is unresolved; neither universal nuclear absence nor proven antibody cross-reactivity follows.
Supporting Evidence:
PMID:26966185
we observed no localisation of CEP164 to the nucleus
file:human/CEP164/CEP164-source-evidence.yaml
file:human/CEP164/CEP164-manual-evidence.md
GO:0005654 nucleoplasm
IDA
GO_REF:0000052
UNDECIDED
Summary: The actual HPA nucleoplasm call remains unresolved against contrasting studies.
Reason: Current HPA037606 ICC/IF records list nucleoplasm and centrosome in A-431 and U-251MG, whereas HPA061504 lists centrosome without nucleoplasm in U-251MG; U2OS is centrosomal in both. The records and image URLs were inspected, not reclassified. The later human-cell localization experiments in 26966185 did not reproduce a nuclear pool. This is a source/context discrepancy, not evidence that the curator or all nuclear staining is wrong.
Supporting Evidence:
GO_REF:0000052
PMID:26966185
we observed no localisation of CEP164 to the nucleus
file:human/CEP164/CEP164-source-evidence.yaml
file:human/CEP164/CEP164-manual-evidence.md
GO:0005813 centrosome
IBA
GO_REF:0000033
ACCEPT
Summary: The phylogenetic centrosomal-activity assertion agrees with direct human recruitment function.
Reason: The original PAINT ancestral node and target-containing evidence list are preserved. Independent human CEP164 loss/rescue and TTBK2-targeting experiments establish molecular recruitment work at the centrosome, beyond localization alone. No donor-count or self-reference objection is warranted; the historical node reconstruction was not independently reproduced.
Supporting Evidence:
GO_REF:0000033
GO:0005813 centrosome
IDA
GO_REF:0000052
ACCEPT
Summary: HPA centrosomal localization is corroborated by direct human-cell and ultrastructural evidence.
Reason: Both inspected HPA antibodies report centrosome in multiple human cell lines. The mother-centriole distal appendage localization established by primary microscopy is the spatial site of the recruitment core. The separate uncertain nuclear call does not invalidate the centrosomal staining.
Supporting Evidence:
GO_REF:0000052
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005813 centrosome
IDA
PMID:21399614
Novel asymmetrically localizing components of human centroso...
ACCEPT
Summary: CEP164 is a mature-centriole appendage component in the human centrosome study.
Reason: The full source discusses CEP164 as an asymmetric appendage marker of the mature mother centriole, consistent with its original IDA and independently established immunogold localization. Retain centrosome as a correct location of the core recruitment activity; do not transfer functions of the newly identified proteins in this study.
Supporting Evidence:
PMID:21399614
CEP170 and CEP164 that localize to the appendage structures of the mature centriole
GO:0005814 centriole
IBA
GO_REF:0000033
ACCEPT
Summary: Centriolar activity is supported by the localized TTBK2-recruitment mechanism.
Reason: The IBA node and human/mouse evidence identifiers remain intact. The human WW-domain-dependent recruitment and targeted-fusion rescue experiments establish CEP164 activity at the mother centriole, not merely a centriolar signal. The phylogenetic assertion is concordant with these target experiments; its ancestry has not been re-inferred from donor counts.
Supporting Evidence:
GO_REF:0000033
GO:0005814 centriole
IDA
PMID:23348840
Centriole distal appendages promote membrane docking, leadin...
ACCEPT
Summary: CEP164 is one of the original distal-appendage components localized to centrioles.
Reason: The target-specific source abstract and accessible Results/figure text identify CEP164 among five distal appendage proteins. Independent human immunogold and super-resolution evidence localizes it to the mother-centriole appendage blades. Retain the IDA without claiming every panel or supplement was independently inspected.
Supporting Evidence:
PMID:23348840
including one previously described (CEP164)
GO:0005814 centriole
IDA
PMID:23530209
CCDC41 is required for ciliary vesicle docking to the mother...
ACCEPT
Summary: The CCDC41 study identifies CEP164 as a mother-centriole distal appendage marker.
Reason: The original source explicitly places the interacting CEP164 at the distal appendage. The exact full target microscopy panel remains access-limited, but independent human primary microscopy establishes this same core location. Retain the correct original IDA and distinguish corroboration from a claimed reread of its complete assay.
GO:0005814 centriole
IDA
PMID:24421332
The CP110-interacting proteins Talpid3 and Cep290 play overl...
ACCEPT
Summary: The Talpid3 study actually visualizes the CEP164 appendage ring in human RPE-1 cells.
Reason: Full Results/Fig. 3A–E use super-resolution localization to place the Talpid3 ring inside the CEP164 distal-appendage ring in cycling and serum-starved RPE-1 cells. Thus the target is directly assayed even though the title foregrounds Talpid3/CEP290. Retain the centriolar IDA.
Supporting Evidence:
GO:0005814 centriole
IDA
PMID:26337392
MDM1 is a microtubule-binding protein that negatively regula...
ACCEPT
Summary: Human RPE-1 CEP164 co-staining directly supports the centriolar location.
Reason: In 26337392 Fig. 2A, CEP164 marks the distal appendage alongside MDM1 in human RPE-1 cells. The separate mouse tracheal epithelial experiments are not silently transferred as human assays. The source supports CEP164 location, not an inferred microtubule-binding or duplication function for CEP164.
Supporting Evidence:
GO:0005814 centriole
IDA
PMID:27623382
A Conserved Role for Girdin in Basal Body Positioning and Ci...
ACCEPT
Summary: The Girdin study uses CEP164 to mark basal bodies in human RPE-1 cells.
Reason: The genuine newly fetched full text, preserved separately from the original abstract-only cache, explicitly reports anti-CEP164-labelled basal bodies in control and Girdin-depleted human RPE-1 cells (Figs. 5F, 6A and S6E). Localization of CEP164 remains detectable after Girdin depletion. This is target-specific localization evidence, distinct from the worm experiments and Girdin function.
Supporting Evidence:
file:human/CEP164/CEP164-manual-evidence.md
GO:0005814 centriole
IEA
GO_REF:0000120
ACCEPT
Summary: The combined electronic centriole assignment agrees with direct human localization.
Reason: Preserve ARBA00088571 and UniProt SL-0046. Independent human immunogold and super-resolution localization establishes CEP164 at mother-centriole distal appendages, the site of the recruitment core. This confirms the biological location without claiming the complete historical automated rule chain was reconstructed.
Supporting Evidence:
GO_REF:0000120
GO:0005829 cytosol
TAS
Reactome:R-HSA-2574840
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event AJUBA facilitates AURKA autophosphorylation.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-2574840
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-2574845
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event AJUBA binds centrosome-associated AURKA.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-2574845
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-3000310
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event AURKA phosphorylates PLK1.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-3000310
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-3000319
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event BORA binds PLK1 and AURKA.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-3000319
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380272
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Plk1-mediated phosphorylation of Nlp.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380272
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380283
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380283
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380294
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Loss of C-Nap-1 from centrosomes.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380294
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380303
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Dissociation of Phospho-Nlp from the centrosome.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380303
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380311
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Recruitment of Plk1 to centrosomes.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380311
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380316
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Association of NuMA with microtubules.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380316
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380455
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Recruitment of CDK11p58 to the centrosomes.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380455
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-380508
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Translocation of NuMA to the centrosomes.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-380508
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5617816
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event RAB3IP stimulates nucleotide exchange on RAB8A.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5617816
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626223
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5626223
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626227
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event CP110 and CEP97 dissociate from the centriole.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5626227
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626228
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event The distal appendage proteins recruit TTBK2.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5626228
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626681
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event Recruitment of transition zone proteins.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5626681
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5626699
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event MARK4 binds ODF2 in the centriole.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5626699
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-5638009
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-5638009
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-8853405
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event TPX2 binds AURKA at centrosomes.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-8853405
file:human/CEP164/CEP164-source-evidence.yaml
GO:0005829 cytosol
TAS
Reactome:R-HSA-8853419
KEEP AS NON CORE
Summary: Broad cytosolic compartment annotation from the Reactome event TPX2 promotes AURKA autophosphorylation.
Reason: The official event identity/version and GO:0005829 compartment were verified in the bounded source extract. This TAS located_in assertion is compatible with CEP164 in cytosolic centriolar assemblies and a cytosolic pool, but the specific core location is the mother-centriole distal appendage. The event model is not a target-specific localization assay, and its reaction title does not assign the other components' enzymatic activities to CEP164. The complete recursive participant tree was not reconstructed.
Supporting Evidence:
Reactome:R-HSA-8853419
file:human/CEP164/CEP164-source-evidence.yaml
GO:0060271 cilium assembly
IBA
GO_REF:0000033
ACCEPT
Summary: The conserved cilium-assembly role is supported by human recruitment and docking experiments.
Reason: Retain the original PAINT node and target evidence. CEP164 supplies molecular recruitment of TTBK2 and contributes distal-appendage membrane organization; it therefore performs assembly work. Human depletion/rescue, interaction-domain mutants and targeted kinase fusions support this role beyond a nonspecific loss-of-cilia phenotype.
Supporting Evidence:
GO_REF:0000033
GO:0060271 cilium assembly
IMP
PMID:17954613
Cep164, a novel centriole appendage protein required for pri...
ACCEPT
Summary: CEP164 depletion blocks primary-cilium formation in the original human-cell study.
Reason: Full Results in 17954613 test CEP164 siRNA in human hTERT-RPE1 cells followed by serum withdrawal and ciliation scoring. Together with later human molecular recruitment/rescue experiments, this supports a core cilium-assembly role. It is not inferred solely from disease association.
Supporting Evidence:
PMID:17954613
One newly identified protein, Cep164, was indispensable for PC formation
GO:0060271 cilium assembly
IMP
PMID:23348840
Centriole distal appendages promote membrane docking, leadin...
ACCEPT
Summary: The original distal-appendage study supports CEP164 participation in cilium assembly.
Reason: The source identifies CEP164 among the five distal-appendage components required for ciliogenesis; independent CEP164-specific human recruitment and rescue experiments establish the performed assembly role. The especially detailed membrane-docking perturbation in that source targets CEP83, so it is not mislabeled as a CEP164-only experiment.
Supporting Evidence:
PMID:23348840
All five DAP components are essential for ciliogenesis
GO:0097539 ciliary transition fiber
IBA
GO_REF:0000033
ACCEPT
Summary: The ciliary transition fiber is the core CEP164-containing distal-appendage complex.
Reason: The original PAINT node is preserved. Human immunogold and dSTORM map CEP164 to the distal appendage blades, including the outer region near membrane docking. Current GO:0097539 describes the transition-fiber protein complex and descends from protein-containing complex; membership and core in_complex use are appropriate.
Supporting Evidence:
GO_REF:0000033
PMID:29789620
CEP164 extending to the tip near the membrane-docking site
GO:0097539 ciliary transition fiber
IDA
PMID:23348840
Centriole distal appendages promote membrane docking, leadin...
ACCEPT
Summary: CEP164 is an experimentally identified distal-appendage/transition-fiber component.
Reason: Retain the original IDA and target identification in the five-component distal-appendage study. Independent human ultrastructural and super-resolution work directly corroborates physical membership in this core complex; no general scaffold or catalytic activity is inferred from membership alone.
Supporting Evidence:
PMID:23348840
identified five DAP components
PMID:29789620
CEP83, CEP89, SCLT1, and CEP164 form the backbone of pinwheel blades
GO:0097539 ciliary transition fiber
IEA
GO_REF:0000117
ACCEPT
Summary: The ARBA transition-fiber assignment matches directly established CEP164 complex membership.
Reason: Preserve ARBA00091172 and the part_of qualifier. Human appendage ultrastructure and super-resolution placement independently support this complex assignment. The exact historic rule execution is not reconstructed, but there is no target-specific biological conflict with its assertion.
Supporting Evidence:
GO_REF:0000117
PMID:17954613
Cep164 could be localized to the distal appendages of mature centrioles

Core Functions

Binds TTBK2 through its N-terminal WW-domain region and recruits it to mother-centriole distal appendages to initiate cilium assembly. Human domain-mutant and targeted-fusion rescue experiments establish the recruitment role. This is kinase binding and positioning, not CEP164 kinase or kinase-activator activity. A complementary C-terminal Rabin8-binding route contributes ciliary membrane organization and Rab8 accumulation; direct Rab8 contact and a specific CEP164-mediated ternary bridge remain unestablished. Recent human-cell ultrastructure refines an obligatory initial-docking model toward membrane expansion after small-vesicle docking. The Rabin8 evidence remains a distinct interaction route; it does not establish an additional GEF or defined ternary-adaptor activity for CEP164.

Molecular Function:
protein kinase binding
Directly Involved In:
Cellular Locations:
Supporting Evidence:

References

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Suggested Questions for Experts

Q: Do cell-type or construct differences explain the positive nuclear CEP164 reports and HPA staining versus the negative localization/DDR results in genome-edited cells? Matched endogenous tagging and antibody controls in the same cell lines would distinguish these possibilities.

Q: How does the direct CEP164–Rabin8 contact promote vesicle docking relative to the TTBK2-recruitment route, given that direct CEP164–Rab8 binding and centrosomal Rabin8 recruitment were not demonstrated in the tested purified-protein/imaging assays?

Suggested Experiments

Experiment: Compare endogenous-tag CEP164 localization with HPA037606 and HPA061504 staining in matched parental and CEP164-null A-431, U-251MG and RPE-1 cells, before and after defined DNA damage; pair imaging with expression-matched rescue.

Deep Research

Falcon

(CEP164-deep-research-falcon.md)

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πŸ“š Additional Documentation

Notes

(CEP164-notes.md)

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Manual Evidence

(CEP164-manual-evidence.md)

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πŸ“„ View Raw YAML

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