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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 Neuroscience and ADP signalling through P2Y purinoceptor 12. 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:0005623 | cell | IEA | -- |
GO:0005634 | NOT nucleus | IDA | 17895247 |
GO:0005737 | cytoplasm | IEA,IDA | 17895247 |
GO:0005886 | plasma membrane | IEA | -- |
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 |
---|---|---|---|---|---|
708596 | Benign: not provided | 74,749,113(+) | G/A | SYNONYMOUS_VARIANT | |
715086 | Likely Benign: not provided | 74,762,088(+) | C/T | MISSENSE_VARIANT | |
720539 | Benign: not provided | 74,748,978(+) | C/T | SYNONYMOUS_VARIANT | |
731308 | Benign: not provided | 74,763,390(+) | G/A | SYNONYMOUS_VARIANT | |
835074 | Uncertain Significance: not provided | 74,768,238(+) | T/C | SPLICE_DONOR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
|
|
dominant hypophosphatemia with nephrolithiasis or osteoporosis |
|
|
hypophosphatemia |
|
|
nephrolithiasis |
|
|
cystic fibrosis |
|