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Proteins/UNIPROT:Q8NEP3

DNAAF1

Protein·UNIPROT:Q8NEP3

Open in the graph

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli..

Function from UniProtKB (Q8NEP3), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

Inferred

Inferred — not reported by a source. Evidence key

GenCC submitters' classifications

2 rows

primary ciliary dyskinesia has a germline basis in DNAAF1DiseaseGenCC HGNC:30539|MONDO:0016575Inferred only
primary ciliary dyskinesia 13 has a germline basis in DNAAF1DiseaseGenCC HGNC:30539|MONDO:0013174Inferred only

Statements

4 statements

4 statements · 3 reference databases · Subject: DNAAF1 · Sources: gene ontology, Hetionet, WikiPathways

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CDT1 covaries with DNAAF1ProteinHetionet hetionet:covaries:123872-81620Inferred only
UBC interacts with DNAAF1ProteinHetionet hetionet:interacts:123872-7316Inferred only
DNAAF1 participates in CiliopathiesPathwayWikiPathways WP4803Inferred only
DNAAF1 regulates regulation of cilium beat frequencyBiological processgene ontology Q8NEP3|GO:0003356Inferred only

Other names

3 names

Resolves to: DNAAF1

Also called: Dynein axonemal assembly factor 1Leucine-rich repeat-containing protein 50LRRC50

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