SLC9A3R1

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]

Description

SLC9A3 regulator 1

Tissue specificity

Tissue enhanced (esophagus)

Subcell location

Vesicles, Plasma membrane, Centriolar satellite

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

17 (74748628 - 74769353)

Ensembl ID

ENSG00000109062  (ver. 103.38)

Orthologs

Mouse Slc9a3r1: ENSMUSG00000020733

UniProt

O14745

neXtProt

NX_O14745

Human splice variants
Mouse splice variants

Protein structure