MACF1

microtubule actin crosslinking factor 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000127603
UniProt:
Q9UPN3
OMIM:
608271
Synonyms:
ABP620, ACF7, FLJ45612, FLJ46776, KIAA0465, KIAA0754, KIAA1251, LNC-PMIF, MACF

Cilia effects upon perturbation of MACF1

Loss-of-function effect:
Abolished ciliogenesis

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.10) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.57) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

basal body

References: PMID:41005307, PMID:27783952, PMID:29305615

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Cell migration & adhesion

Function

Role in coordination of actin and , critical in ciliogenesis, maintenance and regulation of apicobasal polarity. Potential interacting partner with basal body protein Mkks and TALPID3. It may be required for cilia- targeted vesicle exchange at this actin/microtubule interface. Loss of Macf1 abolished docking of the basal body and subsequent extension of the ciliary axoneme (27783952). Ablation of Macf1 in the developing retina abolishes ciliogenesis, and basal bodies fail to dock to ciliary vesicles or migrate apically. (27783952) Deletion of Macf1 in mice results in … failed docking of the basal body to ciliary vesicles … and loss of primary cilia.(29305615)