PKD2L1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined. [provided by RefSeq]

Full Name

polycystic kidney disease 2-like 1

Function

Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca2+ (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:23212381, PubMed:30004384).
Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, but does not affect cytoplasmic calcium concentration (PubMed:24336289).
The channel formed by PKD1L2 and PKD1L1 in primary cilia regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289).
Pore-forming subunit of a channel formed by PKD1L2 and PKD1L3 that contributes to sour taste perception in gustatory cells (PubMed:19812697).
The heteromeric channel formed by PKD1L2 and PKD1L3 is activated by low pH, but opens only when the extracellular pH rises again (PubMed:23212381).
May play a role in the perception of carbonation taste (By similarity).
May play a role in the sensory perception of water, via a mechanism that activates the channel in response to dilution of salivary bicarbonate and changes in salivary pH (By similarity).

Biological Process

Cation transportISS:BHF-UCL
Cellular response to acidic pHISS:BHF-UCL
Detection of chemical stimulus involved in sensory perception of sour tasteISS:BHF-UCL
Detection of chemical stimulus involved in sensory perception of tasteISS:UniProtKB
Detection of mechanical stimulusManual Assertion Based On ExperimentIBA:GO_Central
Inorganic cation transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Protein homotetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Response to waterIEA:Ensembl
Sensory perception of sour tasteManual Assertion Based On ExperimentIMP:UniProtKB
Smoothened signaling pathwayISS:UniProtKB
Sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL

Cellular Location

Cell projection, cilium membrane
Cell membrane
Cytoplasmic vesicle
Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.

Topology

Cytoplasmic: 1-103
Helical: 104-124
Extracellular: 125-356
Helical: 357-376
Cytoplasmic: 377-384
Helical: 385-405
Extracellular: 406-433
Helical: 434-454
Cytoplasmic: 455-479
Helical: 480-499
Extracellular: 500-511
Helical: 512-526
Cytoplasmic: 527-536
Helical: 537-557
Extracellular: 558-805

PTM

Palmitoylation is important for expression at the cell membrane and for channel activity.