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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]
SLC9A3R1 (SLC9A3 Regulator 1) is a Protein Coding gene. Diseases associated with SLC9A3R1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 and Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and PDGFR-beta signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is SLC9A3R2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IPI | 16456542 |
GO:0005515 | protein binding | IPI | 9430655 |
GO:0008013 | beta-catenin binding | IPI | 17242191 |
GO:0015185 | contributes_to gamma-aminobutyric acid transmembrane transporter activity | ISS | -- |
GO:0017081 | chloride channel regulator activity | IDA | 12881487 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IEA | -- |
GO:0005634 | NOT nucleus | IDA | 17895247 |
GO:0005737 | cytoplasm | IEA,IDA | 17895247 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005902 | microvillus | IEA,IDA | 17242191 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of CFTR activity (norm and CF) |
Regulation of CFTR activity (norm and CF)
.38
|
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
.38
|
2 | Neuroscience | ||
3 | Tyrosine Kinases / Adaptors | ||
4 | PI3K-Akt signaling pathway | ||
5 | Parathyroid hormone synthesis, secretion and action |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002009 | morphogenesis of an epithelium | NAS | 25775275 |
GO:0003096 | renal sodium ion transport | IEA | -- |
GO:0007009 | plasma membrane organization | ISS | 25775275 |
GO:0007097 | nuclear migration | IMP | 24862762 |
GO:0007191 | adenylate cyclase-activating dopamine receptor signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc9a3r1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc9a3r1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SLC9A3R1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC9A3R1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC9A3R1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC9A3R1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc9a3r1 30 |
|
||
Str.1984 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100329719 30 |
|
||
SLC9A3R1 (2 of 2) 31 |
|
OneToMany | |||
slc9a3r1 31 |
|
OneToMany | |||
Dr.17541 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sip1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8280 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
835074 | Uncertain Significance: not provided | 74,768,238(+) |
T/C NM_004252.5(SLC9A3R1):c.888+2T>C |
SPLICE_DONOR | |
959800 | Uncertain Significance: not provided | 74,762,039(+) |
A/C NM_004252.5(SLC9A3R1):c.469A>C (p.Met157Leu) |
MISSENSE | |
rs119486097 | Likely Benign: Nephrolithiasis; Hypophosphatemia; Nephrolithiasis/osteoporosis, hypophosphatemic, 2; not specified. Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] | 74,763,436(+) |
G/Ap.Glu225Lys NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) |
MISSENSE | |
rs139622189 | Uncertain Significance: not provided. Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] | 74,749,049(+) |
A/Cp.Glu68Ala NM_004252.5(SLC9A3R1):c.203A>C (p.Glu68Ala) |
MISSENSE | |
rs147104235 | Uncertain Significance: Nephrolithiasis/osteoporosis, hypophosphatemic, 2; not provided | 74,763,420(+) |
C/G NM_004252.5(SLC9A3R1):c.657C>G (p.Ile219Met) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
|
|
dominant hypophosphatemia with nephrolithiasis or osteoporosis |
|
|
hypophosphatemia |
|
|
nephrolithiasis |
|
|
nephrolithiasis, calcium oxalate |
|
|