2ozf
The crystal structure of the 2nd PDZ domain of the human NHERF-1 (SLC9A3R1)The crystal structure of the 2nd PDZ domain of the human NHERF-1 (SLC9A3R1)
Structural highlights
Disease[NHRF1_HUMAN] Defects in SLC9A3R1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]. Hypophosphatemia results from idiopathic renal phosphate loss. It contributes to the pathogenesis of hypophosphatemic urolithiasis (formation of urinary calculi) as well to that of hypophosphatemic osteoporosis (bone demineralization).[1] [2] Function[NHRF1_HUMAN] Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules.[3] [4] [5] [6] Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
|
| ||||||||||||||||
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCA- Human
- Large Structures
- Arrowsmith, C H
- Berridge, G
- Bray, J
- Colebrook, S
- Delft, F von
- Doyle, D A
- Edwards, A
- Elkins, J
- Fedorov, O
- Gileadi, C
- Gileadi, O
- Gorrec, F
- Papagrigoriou, E
- Phillips, C
- Structural genomic
- Salah, E
- Savitsky, P
- Schoch, G
- Smee, C
- Sundstrom, M
- Turnbull, A P
- Umeano, C
- Uppenberg, J
- Weigelt, J
- Pdz domain
- Protein binding
- Sgc