Annotation inferences using phylogenetic trees
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
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia
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LRRC50 mutations in four families cause PCD with absence of both dynein arms, demonstrating a key role in cytoplasmic preassembly of dynein arms.
"support a key role for LRRC50, a member of the leucine-rich-repeat superfamily, in cytoplasmic preassembly of dynein arms"
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
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LRRC50 deficiency causes combined ODA and IDA defects, disrupting assembly of DNAH5/DNAI2-containing ODA and DNALI1-containing IDA complexes.
"combined defect involving assembly of the ODAs and IDAs"
Chlamydomonas flagellar outer row dynein assembly protein ODA7 interacts with both outer row and I1 inner row dyneins
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ODA7 is a 58-kDa leucine-rich repeat protein that forms a structural link between inner and outer row dyneins on the doublet surface.
"Oda7 participates in a previously uncharacterized structural link between inner and outer row dyneins"
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
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DNAAF1 interacts with IFT88 and RUVBL1, linking dynein arm assembly to intraflagellar transport and heart laterality determination.
"we identified interactions with members of a putative dynein arm assembly complex. These include the ciliary intraflagellar transport protein IFT88 and the AAA+...family proteins RUVBL1 (Pontin) and RUVBL2 (Reptin)"
LRRC50, a Conserved Ciliary Protein Implicated in Polycystic Kidney Disease
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Zebrafish lrrc50 mutants develop pronephric cysts with disorganized cilia lacking outer dynein arms.
"Electron microscopy analysis revealed ultrastructural irregularities of the dynein arms and misalignments of the outer-doublet microtubules on the ciliary axonemes"
Research notes on DNAAF1 in Anopheles gambiae