motifs/domains
| N-terminal region with an extracellular portion of >3000 amino acids, which is predicted to be a site of protein-protein or receptor-ligand interactions  , 11 transmembrane spanning this extracellular region containing a number of adhesive domains |
|
a large extracellular segment, with (from NH2) two leucine rich repeats |
|
a homer-binding motif (PPxxF), which lies within its purported cytoplasmic domain |
|
a C-type lectin domain |
|
a LDL-A domain, 16 copies of a repeat |
|
the PKD domain with low homology to the Ig superfamily |
|
four type III fibronectin |
|
one REJ (receptor for egg jelly) domain |
|
one GPS domain (cleavage essential for the normal function) |
|
11 transmembrane domains (TM11) |
|
extracellular information across the plasma membrane |
|
a probable coiled-coil domain interacting with PKD2 and TSC2 |
|
a cytoplasmic C-terminal tail (CTT), transmiting extracellular information across the plasma membrane, associating with beta-catenin and acting as an inhibitor of Wnt-dependent intracellular signaling (cleavage and release of CTT may be necessary components of a biological switch that acts to modulate Wnt-dependent signal transduction in renal epithelia), and can undergo proteolytic cleavage and nuclear translocation |
|
a conserved amino acid sequence, KVHPSST, in the C-terminus that serves as a ciliary-targeting signal , and |
|
interacts with numerous signaling molecules, including GNA12 |
SUBCELLULAR LOCALIZATION
| plasma membrane,junction,desmosome
|
| intracellular
|
|
| intracellular,cytoplasm,organelle,Golgi
|
|
| intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
|
|
| intracellular,cytoplasm,cytoskeleton,microfilament
|
| text
| localizes in cilia and has been observed in the centrosome of endothelial cells |
|
predicted to traverse the membrane 11 times and includes a massive extracellular amino terminal domain and a short intracellular carboxy terminal tail |
|
with PKD2, colocalize to cilia, where they may enable a mechano/chemosensory response triggering a rise in intracellular Ca2+ |
| basic FUNCTION
| may be functioning through a signaling pathway necessary for normal tubulogenesis and involved in adhesive protein-protein and protein-carbohydrate interactions |
|
involved in regulating ion transport required for the structural integrity of blood vessels |
|
maintaining cell adhesion, protein sorting and cell polarity (features disrupted in cystic epithelium) |
|
involved in chondrocyte development and in renal epithelium development |
|
mediating mechanosensation in the primary cilium of kidney cells |
|
acting as a regulator of G1 checkpoint, which controls entry into the S phase and prevents the replication of damaged DNA |
|
playing a role in preventing immortalized proliferation of renal tubular epithelial cells through the induction of TP53 and activation of MAPK8 |
|
modulating renal tubular fluid and electrolyte transport |
|
having a central role in regulating morphogenic protein signaling at cell-matrix interfaces in non-confluent cells |
|
role in modulating cell proliferation through calcium oscillations in kidney cells |
|
regulates induction of cell death by wild-type PTRH2 following loss of cell attachment to the extracellular matrix |
|
one of the signaling molecules through which integrin-mediated cell attachment controls PTRH2 activity and anoikis |
|
acting as an upstream activating kinase that regulates the function of PTRH2 in anoikis by phosphorylating the Ser5 and Ser87 residues |
|
may play a role in regulating the stability of a pool of the beta-catenin protein |
|
tumor suppressive function that may be at least partially dependent upon the ability of the free CTT to inhibit beta-catenin-dependent Wnt signaling |
|
critical in both epithelium and chondrocyte development ( |
|
regulates tubular morphology in both developing and adult kidney ( |
|
can inhibit the mTOR pathway and regulate cell size |
|
phosphorylates SSH1 in response to RhoA activation and blocks it in the cytoplasm, consequently blocking the formation of free actin-filament barbed ends |
|
inhibits Ca2+ release, perhaps opposing the effect of PKD2, which facilitates Ca2+ release through the IP3R |
|
plays a novel role in the regulation of ITPR1 to modulate intracellular Ca2+ signaling |
|
may mediate the function of PRKX in kidney development |
|
involved in cell/cell/matrix interaction and the regulation of several signalling pathways linked to cell proliferation |
|
can both activate and coactivate multiple STATs, and STAT activation requires the membrane-anchored PC1 tail, whereas STAT coactivation requires the cleaved, soluble PKD1 tail |
|
plays an essential role in stereocilia structure and maintenance but not directly in mechanoelectrical transduction channel function or planar cell polarity ( |
|
acts as a negative regulator of STAT3 |
|
MTOR-mediated inhibition of PKD1 expression drives renal cyst formation in tuberous sclerosis complex |
|
PKD1, PKD2 form an ion channel complex that may mediate ciliary sensory processes and regulate endoplasmic reticulum (ER) Ca2+ release |
|
role for PKD1, PKD2 in sensing and responding to cellular O2 levels |
|
PKD1 is required to couple mechanical deflection of cilia to MTOR in tubular cells |
