PKD1L1

polycystin 1 like 1, transient receptor potential channel interacting

Tier: Gold Standard Ciliary Genes

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

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

Biliary Atresia
Visceral Heterotaxy / Situs Inversus

References: PMID:31026592, PMID:41405813, PMID:38460793

Subcellular localization

cilia

References: PMID:21307098, PMID:21307093

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)

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