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
Electronic Gene Ontology annotations created by ARBA machine learning models
FAP57/WDR65 targets assembly of a subset of inner arm dyneins and connects to regulatory hubs in cilia.
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FAP57 targets or stabilizes the attachment of a subset of inner dyneins.
"Collectively, these observations strongly suggested that FAP57 targets or stabilizes the attachment of these dyneins to their unique binding sites in the 96 nm repeat"
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FAP57 forms an extended structure interconnecting IDAs and regulatory complexes.
"Cryo-electron tomography coupled with epitope tagging and gold labeling reveal that FAP57 forms an extended structure that interconnects multiple IDAs and regulatory complexes"
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
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CFAP57 localizes throughout the axoneme of human airway cilia.
"In normal human nasal epithelial cells, CFAP57 localizes throughout the ciliary axoneme"
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Loss of axonemal CFAP57 reduces beat frequency and alters waveform.
"A reduced beat frequency and an alteration in ciliary waveform was observed"
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
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Loss of long-isoform CFAP57 disrupts inner dynein arm assembly in sperm.
"Subsequent examinations of the spermatozoa from Cfap57-mutant mice revealed that CFAP57 deficiency disrupted the inner dynein arm (IDA) assembly in sperm flagella and that single-headed IDAs were more likely to be affected"
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The mouse model recapitulates MMAF.
"A mouse model mimicking the mutation (c.2872C>T) was generated and recapitulated the typical MMAF phenotype of CFAP57-mutated individuals"
Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.
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CFAP57 localizes to sperm flagella.
"Immunofluorescence analysis confirmed that both MYH10 and CFAP57 localize to the sperm flagella"
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CFAP57 mutant mice reproduce MMAF and infertility.
"CRISPR-Cas9-generated CFAP57 mutant mice recapitulated human MMAF phenotypes, exhibiting structural flagellar defects and complete infertility"
A novel CFAP57 nonsense mutation causes asthenozoospermia in a consanguineous Emirati family.
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A homozygous CFAP57 nonsense variant causes asthenozoospermia without PCD.
"Notably, the patient exhibited no signs of primary ciliary dyskinesia (PCD), suggesting that the mutation selectively affects the sperm-specific isoform of CFAP57"
CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility.