PACSIN1

protein kinase C and casein kinase substrate in neurons 1

Ensembl:
ENSG00000124507
UniProt:
Q9BY11
OMIM:
606512
Synonyms:
SDPI

Cilia effects upon perturbation of PACSIN1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Unknown
Overexpression effect:
Unknown

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.66) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse ciliopathy phenotype:
increased circulating alanine transamise level

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Promotes mother centriole to basal body transition at early stages in ciliogenesis. Required for the establishment of an extracellular membrane channel, through interaction with EHD1 to form the membrane tubules that connect the developing cilium to the cell surface. Regulates actin and microtubule cytoskeleton assembly (30683896).

Model organism evidence

Danio rerio (1 reference)

Here, we demonstrate in human cells and zebrafish that the F-BAR domain containing proteins PACSIN1 and -2 play an essential role in ciliogenesis, similar to their binding partner and membrane reorganizer EHD1.

PMIDs: 30683896