CFAP36
cilia and flagella associated protein 36
- Ensembl:
- ENSG00000163001
- UniProt:
- Q96G28
- Synonyms:
- BARTL1, CCDC104, MGC15407
Cilia effects upon perturbation of CFAP36
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- increased bone mineral density, increased bone mineral content, decreased circulating alkaline phosphatase level
Subcellular localization
cilia, transition zone
Functional category
- Ciliary assembly/disassembly
- Transition zone
Function
Contains a BART-like domain (also called BARTL1). Recognizes the LLxILxxL motif at the N-terminal amphipathic helix of Arl3 (PMID 26455799). This interaction is crucial for the ciliary localization of Arl3 itself, which acts as a release factor for myristoylated and farnesylated ciliary cargo molecules by binding the effectors Unc119 and PDE6delta. BARTL1 may aid the presentation of active Arl3 to its GTPase-activating protein RP2 or hinder Arl3 membrane binding in the area of the transition zone. Crystal structure of the BART-like domain bound to Arl3 has been determined (PDB 4ZI2). Renamed from CCDC104 to CFAP36 by HGNC.