Target intelligence / Profile preview

Cilia and flagella associated protein 53 (CFAP53)

Target
CFAP53
Molecular classification
Other (axonemal/coiled-coil domain protein), Cytoskeletal-associated protein (functions with microtubules in cilia/flagella), Ciliary motor/interacting protein
01

Overview

Cilia and flagella associated protein 53 (CFAP53; also known as coiled-coil domain containing 11, CCDC11) is a conserved structural and regulatory protein essential for the assembly and motility of motile cilia and flagella in mammals[1][3][4][5][6]. CFAP53 localizes to centriolar satellites, the base, and the axoneme of cilia and flagella, where it stabilizes and promotes the transport and docking of dynein motor proteins and other cargoes[1][3]. Its loss disrupts ciliary/flagellar biogenesis, results in impaired sperm motility and morphology, and underlies developmental abnormalities such as visceral heterotaxy and primary ciliary dyskinesia, indicating a key role in left-right axis patterning during embryogenesis[4][5][6]. Although critical for cellular and developmental function, it is not a direct pharmacological target and currently lacks pathways for small-molecule modulation or therapeutic intervention.

Other names
CFAP53CCDC11 (Coiled-coil domain containing 11)HTX6FLJ32743cilia and flagella associated protein 53coiled-coil domain-containing protein 11
02

Mechanism of action

Not applicable — no drugs are known to act directly on CFAP53; its functional mechanism is structural/regulatory: - Cargo stabilization and transport to cilia/flagella via microtubule-associated mechanisms and interaction with molecular motors and dynein complexes[1][3].

03

Biological functions

Regulates motility patterns of motile cilia (both 9+0 node and 9+2 tracheal cilia)Involved in protein transport and cargo stabilization during sperm flagellum biogenesisInteracts with axonemal dyneins, TTC25, KIF3A, CCDC42, IFT88Regulates left-right asymmetric patterning during development
04

Disease associations

Visceral heterotaxy (Heterotaxy-6)Disorders of left-right patterning/congenital heart defectsPrimary ciliary dyskinesia (due to motility/assembly defects)Male infertility due to defects in sperm flagellum biogenesis (multiple morphological abnormalities of the sperm flagella, MMAF)Possible contribution to ciliopathies
05

Safety considerations

Deficiency or mutations in CFAP53 can lead to developmental and reproductive disorders.Targeted therapies or direct modulation have not been described (therapeutic challenge).

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