Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Combined Automated Annotation using Multiple IEA Methods
Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.
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CFAP410 depletion alters cortical actin organization in PC3 cells; its localization was not assayed by the GFP construct experiments.
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The GFP localization assay identifies a restricted set of proteins that does not include CFAP410.
A proteome-scale map of the human interactome network.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
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CFAP410 depletion impairs homologous recombination, while the protein remains cytoplasmic.
"Knockdown of both C21ORF2 and NEK1 resulted in defective HR repair"
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3.
Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.
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Human ALS-associated CFAP410 variants fail to cluster efficiently at the basal body; associated IFT-marker redistribution does not establish a motor or cargo-adaptor activity.
"failed to cluster at the basal body"
The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.
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Synthetic human CTD assembles into a tetrameric helical bundle, whereas the localization-mutant assays were performed in T. brucei.
"the same conformation as a
tetrameric helical bundle"
CFAP410 has a bimodular architecture with a conserved surface patch on its N-terminal leucine-rich repeat motif for binding interaction partners.
ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Falcon literature research report for human CFAP410
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Focused Primary-Evidence Audit: Human CFAP410 (O43822) Subcellular Localization for GO Curation
Author Correction: Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.
CFAP410 source evidence and prior-proposal provenance