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FLASH GENE
Symbol PKD2L1 contributors: mct/shn - updated : 22-11-2018
HGNC name polycystic kidney disease 2-like 1
HGNC id 9011
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • PKD2L1 N terminus interacts with the receptor for activated C kinase 1 (RACK1), a scaffolding/anchoring protein implicated in various cellular functions , and PKD2L1 N-terminus is critical for dimerization
  • six transmembrane segments (6TM)
  • a large extracellular loop between TM5 and 6
  • a C terminal tail with a EF-hand-like domain, C-terminal fragments having roles in its channel function , and C-terminal coiled-coil domain forms a trimer in solution and in crystal, and has a crucial role in the assembly and surface expression of the PKD1L3/TRPP3 complex
  • HOMOLOGY
    interspecies ortholog to Pkd2l1, Mus musculus
    ortholog to Pkd2l1, Rattus norvegicus
    ortholog to pkd2l1, Danio rerio
    ortholog to PKD2L1, Pan troglodytes
    intraspecies homolog to PKD2,highly
    Homologene
    FAMILY polycystin protein family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • may act as a transducer of calcium-mediated signalling
  • calcium modulated non selective cation channel permeable to Na+, K+, Ca++ ions
  • transient receptor potential (TRP) channel members
  • PKD1L3 and PKD2L1 heteromers may function as sour taste receptors
  • is also part of an acid-triggered off-response cation channel complex
  • is involved in hedgehog signaling, intestinal development, and sour tasting
  • PKD2L1 and PKD2L1/PKD1L3 channels share the PKD2L1 trimerization process
  • influx-operated Ca(2+) entry via PKD2L1 and PKD1L3 Channels facilitates sensory responses to polymodal transient stimuli
  • selectivity filter is partially selective to calcium ions (Ca(2+)) moving into the cell, but blocked by high internal Ca(2+)concentrations, a unique feature of this transient receptor potential (TRP) channel family member
  • PKD2L1 take part in hedgehog signaling in renal primary cilia and sour tasting coupling with PKD1L3
  • inhibitory effect of PKD2L1 on cardiac hypertrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of integral membrane
  • part of PKD1L3/PKD2L1 channel (a new type of ion channel, designated as an off-channel; activation of PKD1L3/PKD2L1 channels might occur shortly after acid stimulation, as a slight increase in pH from the initial acidification at pH 2.5 is sufficient to open the channels)
  • PKD1L1-PKD2L1 heteromeric channel establishes the cilia as a unique calcium compartment within cells that modulates established hedgehog pathways
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Troponin I
  • polycystic kidney disease 1-like 3, PKD1L3
  • PKD1L1-PKD2L1 acts as a ciliary calcium channel controlling ciliary calcium concentration and thereby modifying SMO-activated GLI2 translocation and GLI1 expression
  • PKD1L3, is a protein that associates with PKD1L2 in taste cells and may play a role in sour taste
  • PKD1L3 associates with PKD2L1 in taste cells and may play a role in sour taste
  • cell & other
    REGULATION
    activated by by various acids when coexpressed in heterologous cells but not by other classes of tastants
    inhibited by RACK1 (RACK1 inhibits the function of PKD2L1 channel on the plasma membrane in addition to reducing its total and plasma membrane expression)
    Other downregulated in adult
    calcium modulated
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    deleted in mice with kidney and retinal defects