EXOC4

exocyst complex component 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000131558
UniProt:
Q96A65
OMIM:
608185
Synonyms:
KIAA1699, MGC27170, SEC8, SEC8L1, SEC8P

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-10.40) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage, increased circulating sodium level

Subcellular localization

cilia

References: PMID:19454479, PMID:18552847

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Metabolism
  • Ciliary membrane

Function

Also known as SEC8. Sec6/8 complex cooperates with cooperate with syntaxin 3 and S P-25, ceing a candidate effector for Rab8 at the rhodopsin transport carriers (RTC) docking site (19454479). Together with Dvl and Rho, Sec8 is required for regulating the docking and maintenance of basal bodies to the apical plasma membrane in multi-ciliated cells (18552847).