XB-FEAT-487361: Difference between revisions

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Human name changed from slc9a3r1, SLC9A3 regulator 1 to nherf1, NHERF family PDZ scaffold protein 1
Human name changed from slc9a3r1, SLC9A3 regulator 1 to nherf1, NHERF family PDZ scaffold protein 1
=summary for human NHERF1 from NCBI=
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

Latest revision as of 10:07, 27 January 2023

nherf1

This is the community wiki page for the gene nherf1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

04/22/ 2016

Human name has changed for Entrez Gene: 9368. From solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 to SLC9A3 regulator 1


2023/01/26

Human name changed from slc9a3r1, SLC9A3 regulator 1 to nherf1, NHERF family PDZ scaffold protein 1

summary for human NHERF1 from NCBI

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]