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Details on Person UniProt:A2A259 Pkd2l1
| Class:Id | ReferenceGeneProduct:5433717 |
|---|---|
| _chainChangeLog | chain:1-760 added on Fri February 6 2015 |
| _displayName | UniProt:A2A259 Pkd2l1 |
| _timestamp | 2026-02-20 23:09:27 |
| chain | chain:1-760 |
| checksum | 4C76777051CFC2EF |
| comment | FUNCTION Homotetrameric, non-selective cation channel that is permeable to sodium, potassium, magnesium and calcium (PubMed:15548533, PubMed:28904867). Also forms functional heteromeric channels with PKD1, PKD1L1 and PKD1L3 (PubMed:15548533, PubMed:16891422, PubMed:18535624, PubMed:20538909, PubMed:21185261, PubMed:24336289, PubMed:34381056). Pore-forming subunit of a heterotetrameric, non-selective cation channel, formed by PKD1L2 and PKD1L3, that is permeable to sodium, potassium, magnesium and calcium and which may act as a sour taste receptor in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect (PubMed:16891422, PubMed:16929298, PubMed:18535624, PubMed:19464260, PubMed:20406802, PubMed:20538909, PubMed:21098668, PubMed:21185261, PubMed:21625513, PubMed:22420714, PubMed:29567962). The homomeric and heteromeric channels formed by PKD1L2 and PKD1L3 are activated by low pH and Ca(2+), but opens only when the extracellular pH rises again and after the removal of acid stimulus (PubMed:18535624, PubMed:19464260, PubMed:20406802, PubMed:20538909, PubMed:22420714, PubMed:28904867, PubMed:29567962). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336288, PubMed:24336289). The PKD1L1:PKD2L1 complex channel is mechanosensitive only at high pressures and is highly temperature sensitive (By similarity). Pore-forming subunit of a calcium-permeant ion channel formed by PKD1L2 and PKD1 that produces a transient increase in intracellular calcium concentration upon hypo-osmotic stimulation (200 mOsm) (PubMed:15548533). May play a role in the perception of carbonation taste (PubMed:19833970). 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 (PubMed:28553944).CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)CATALYTIC ACTIVITY Na(+)(in) = Na(+)(out)CATALYTIC ACTIVITY Mg(2+)(in) = Mg(2+)(out)CATALYTIC ACTIVITY K(+)(in) = K(+)(out)ACTIVITY REGULATION The non-selective cation channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application (PubMed:18535624, PubMed:19464260, PubMed:20406802, PubMed:22420714, PubMed:28904867, PubMed:29567962). Responses to acid stimulus are inhibited by capsaicin (PubMed:22420714).SUBUNIT Oligomer (By similarity). Functional PKD2L1 homotetramer can be formed either through C-terminal trimerization followed by N-terminal dimerization of a fourth subunit with a subunit in the trimer or through dimerization followed by trimerization (PubMed:25820328, PubMed:29567962). Heterotetramer with either PKD1L1, PKD1L3 or PKD1; the heterotetrameric complex probably contains 3 PKD1L2 chains plus one chain from another family member (PubMed:15548533, PubMed:16891422, PubMed:25820328, PubMed:29567962). Interacts with PKD1L1, forming a ciliary calcium channel (PubMed:24336289). Interacts with PKD1L3, forming a cation channel that is activated by low extracellular pH (PubMed:16891422, PubMed:18535624, PubMed:19464260, PubMed:20406802, PubMed:20538909, PubMed:22420714, PubMed:25820328, PubMed:29567962). Interacts with PKD1; this heteromeric functional cation channels is opened by hypo-osmotic stimulation (PubMed:15548533). Interacts with RACK1; inhibits the channel activity possibly by impairing localization to the cell membrane (By similarity).INTERACTION Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.TISSUE SPECIFICITY Detected in kidney, testis and brain, (PubMed:25820328). Expressed in all 4 taste areas in taste buds. Detected in the taste pore region of circumvallate papillae, foliate papillae, fungiform papillae and palate (PubMed:16891422, PubMed:16929298, PubMed:20538909, PubMed:21625513). Expressed in cells distinct from those mediating sweet, umami and bitter taste (at protein level) (PubMed:16891422). Expressed in type III taste cells (at protein level) (PubMed:18156604). Ubiquitous (PubMed:15548533). Detected in circumvallate, foliate, fungiform and palate taste buds, in cells distinct from those mediating sweet, umami and bitter taste (PubMed:16929298, PubMed:21625513). Detected in taste tissues and testis (PubMed:16891422).DOMAIN The EF-hand domain probably mediates calcium-binding. It is not required for channel activation.DOMAIN Interaction of the cytoplasmic N- and C-terminal domains is important for channel activity.PTM Palmitoylation is important for expression at the cell membrane and for channel activity.DISRUPTION PHENOTYPE Intestinal malrotation in 50% of animals, while other organs do not show major organ laterality defects. Intestinal malformations are associated with SHH pathway defects during early development (PubMed:24336288). Partial reduction of chorda tympani nerve response to sour stimuli, without affecting sweet, salty, bitter, and umami perception (PubMed:21625513).SIMILARITY Belongs to the polycystin family.CAUTION Pkd1l3 and Pkd2l1 have been defined as sour taste receptor in gustatory cells based on a number of indirect evidences: Pkd2l1 is expressed in a subset of taste receptor cells distinct from those responsible for sweet, bitter and unami taste and genetic elimination of cells expressing Pkd2l1 reduces gustatory nerve responses to sour taste stimuli (PubMed:16891422, PubMed:16929298). However, a number of experiments have recently shown that the sour taste receptor activity is probably indirect: mice lacking Pkd2l1 only show partial defects in sour taste perception (PubMed:21625513). Moreover, the PKD1L3-PKD2L1 heteromer, when expressed in cells does not respond to acid stimuli used to evoke proton currents in taste cells (PubMed:21098668). |
| created | [InstanceEdit:5433710] Weiser, JD |
| description | recommendedName: fullName evidence="26"Polycystin-2-like protein 1 shortName: Polycystin-2L1 alternativeName: Polycystic kidney disease 2-like 1 protein alternativeName: Polycystin-2 homolog |
| geneName | Pkd2l1 Trpp3 |
| identifier | A2A259 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Calcium Calcium channel Calcium transport Cell membrane Cell projection Cilium Coiled coil Cytoplasmic vesicle Disulfide bond Glycoprotein Ion channel Ion transport Lipoprotein Membrane Metal-binding Palmitate Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:9015733] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9616384] Weiser, JD [InstanceEdit:9627708] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9657908] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9796772] Weiser, Joel [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | Pkd2l1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | PK2L1_MOUSE Q14B55 Q14B73 Q80ZH4 |
| sequenceLength | 760 |
| species | [Species:48892] Mus musculus |
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No pathways have been reviewed or authored by UniProt:A2A259 Pkd2l1 (5433717)
