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.
Combined Automated Annotation using Multiple IEA Methods.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
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CFAP418 mutations cause autosomal recessive retinal dystrophies
"C8orf37 localization at the base of the primary cilium of human retinal pigment epithelium cells and at the base of connecting cilia of mouse photoreceptors"
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CFAP418 localizes specifically to ciliary bases in retinal cells
"Immunohistochemical studies revealed C8orf37 localization at the base of the primary cilium of human retinal pigment epithelium cells and at the base of connecting cilia of mouse photoreceptors"
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CFAP418 mutations cause cone-rod dystrophy and retinitis pigmentosa
"Clinical assessment revealed CRD in four individuals and RP with early macular involvement in two individuals"
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
CFAP418 Bioinformatics Analysis Results
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CFAP418 contains extensive coiled-coil regions supporting scaffolding function
"Major coiled-coil domain spanning positions 0-259 (high confidence) with additional regions at positions 273-315 and 350-441, consistent with protein-protein interaction and structural roles"
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Multiple protein interaction domains predicted including WD40 and TPR-like motifs
"4 potential WD40-like repeat patterns detected, 6 potential TPR-like motifs identified"
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Ciliary localization features detected consistent with CFAP family proteins
"3 VxPx-like motifs detected, pattern consistent with ciliary/flagellar localization (CFAP family)"
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Basic protein with elevated serine content suggesting phosphorylation regulation
"Theoretical pI: Basic (>7.0), Serine content: 8.4% (elevated, potential phosphorylation sites)"
Deep research on CFAP418 function