SLC9A3R1

GENE INFORMATION

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Gene name

SLC9A3R1 (HGNC Symbol)

Synonyms

EBP50, NHERF

Description

solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

17 (Chromosome progress)

Cytoband

q25.1

Chromosome location (bp)

72744791 - 72765492

Ensembl

ENSG00000109062 (version 73.37)

Entrez gene

9368

UniProt

O14745 (UniProt - Evidence at protein level)

neXtProt

NX_O14745

Antibodypedia

SLC9A3R1 antibodies
 

PROTEIN VIEW

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SLC9A3R1-001
 
SLC9A3R1-002
 
SLC9A3R1-005
 
SLC9A3R1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC9A3R1-001 ENSP00000262613
ENST00000262613
O14745
Show all »
Show » Show » 358 38.9 No 0
SLC9A3R1-002 ENSP00000464982
ENST00000413388
B3KY21
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Show » 202 22 No 0
SLC9A3R1-005 ENSP00000464117
ENST00000581356
35 3.9 No 0
SLC9A3R1-006 ENSP00000464321
ENST00000583369
J3QRP6
Show all »
Show » 215 22.9 No 0