Article

Genetic variants disrupt human RGS <sub>14</sub> binding to NHERF <sub>1</sub> and regulation of NPT <sub>2</sub> A-mediated phosphate transport

2019-02-05

Abstract excerpt

RGS14 is a multifunctional scaffolding protein that integrates G protein, MAPK, and Ca ++ /CaM signaling pathways. RGS14 contains an RGS domain, tandem Ras/Rap-binding domains, and a G protein regulatory motif. Human/primate RGS14 differ from rodent proteins by possessing a carboxy-terminal extension encoding a Type I PDZ ligand. RGS14 has been implicated in disordered phosphate metabolism. The human RGS14 gene...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 60234d0c-9406-5e8e-bf36-a75c12ac46bf
DOI: 10.1101/540781

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic variants disrupt human RGS <sub>14</sub> binding to NHERF <sub>1</sub> and regulation of NPT <sub>2</sub> A-mediated phosphate transportDOI 10.1101/540781Read

Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemiaSemantic proximity Read

Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia.Semantic proximity Read

Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box.Semantic proximity Read

Genetic Polymorphisms of RGS14 and Renal Stone Disease.Semantic proximity Read

Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neuronsSemantic proximity Read

Regulator of G-protein signaling (RGS) proteins in cancer biology.Semantic proximity Read

Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons.Semantic proximity Read

Genetic Analysis of Rare Human Variants of Regulators of G Protein Signaling Proteins and Their Role in Human Physiology and Disease.Semantic proximity Read

A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.Semantic proximity Read

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.Semantic proximity Read

Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.Semantic proximity Read

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and CardiomyopathySemantic proximity Read