PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting

Ensembl:
ENSG00000158683
UniProt:
Q8TDX9
OMIM:
609721
Synonyms:
PRO19563

Cilia effects upon perturbation of PKD1L1

Ciliogenesis screen results (3 screens)

  • Kim2016: Not Reported
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
visceral heterotaxy; Situs inversus totalis

Ciliopathy associations

  • Visceral Heterotaxy / Situs Inversus
  • Biliary Atresia

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane

Function

Interacts with Pkd2 to form a complex that functions as the nodal flow sensor in the motile cilia. This interaction is required for left-right patterning (21307098, 21307093)

Model organism evidence

Mus musculus (1 reference)

It depends on extracellular leftward fluid flow (nodal flow), fibroblast growth factor receptor (FGFR)/sonic hedgehog (Shh) signaling, and the PKD1L1 polycystin subunit, of which interrelationship is still elusive.

PMIDs: 37413993