Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SLC9A3R1 | 9368 | Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1  | 17 | EBP50; NHERF; NHERF1; NHERF-1; NPHLOP2  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 19662090    | 2009 | Cell line : HCT 116, DLD 1, RKO, SW 480 and HT 29 Source : ATCC (Manassas, VA), Department of Pathology, The Johns Hopkins University, OncoMethylome Sciences (SartTilman, Belgium). Sample Type : CRC tumor, normal tissue and stool sample No. of Sample : 100 pairs of gDNA from primary colorectal cancers (PT) and matched normal adjacent colon mucosa (PN) and 13 normal colon epithelial tissues (NN) Stage : - | Sequencing and Combined Bisulfite Restriction Analysis (COBRA), Conventional methylation-specific PCR | Methylation | - | SLC9A3R1 were methylated both in cell lines and tissues. |
| 22440733    | 2012 | Cell line : - Source : Pathology Department, National Cancer Centre Giovanni Paolo II, Bari, Italy Sample Type : CRC tumor, normal tissue and stool sample No. of Sample : 51 specimens including primary tumors, synchronous lymph node and liver metastases Stage : TNM Stage I-IV | Immunohistochemistry, Immunohistofluorescence | Up-regulation | - | Results support the oncogenic role of NHERF1 and promote nuclear NHERF1 as a potential new biomarker of advanced CRC. The increasing NHERF1 expression during CRC progression and the strong correlation with HIF-1 before of transition from healthy colonic epithelia to carcinoma suggest that NHERF1 could be related to hostile, hypoxic tumor microenvironment, favoring a more invasive phenotype. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | 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 |
| Location | 17q25.1 |
| Start | 74748612   |
| End | 74769360   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 20749   |
| OMIM ID | 604990    |
| HGNC ID | HGNC:11075    |
| Unigene ID | Hs.724482    |
| Ensembl ID | ENSG00000109062    |
| PharmGKB ID | PA35931    |
mRNA Information
| mRNA ID | NM_004252.4 |
|---|---|
| Exon | join(1..676,13401..13562,14756..14909,18325..18365, 19536..19625,19857..20749)   | mRNA Sequence |    Download   Select all |
| Length | 2032   |
CDS Information
| Location | join(236..676,13401..13562,14756..14909,18325..18365, 19536..19625,19857..20045) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS11705.1 |    
Protein Information
| Protein ID | NP_004243.1 |
|---|---|
| Protein Name | Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 |
| Molecular Wt. (Da) | 38737 |
| Protein Sequence |    Download   Select all |
| Length | 358   |
| Uniprot ID | Q14249 |    
| Ensembl Protein ID | ENSP00000361725   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 290 |
| S | Phosphorylation | 290 |
| S | Phosphorylation | 280;- |
| S | Phosphorylation | 269;- |
| S | Phosphorylation | 46 |
| S | Phosphorylation | 288 |
| S | Phosphorylation | 291 |
| S | Phosphorylation | 294 |
| S | Phosphorylation | 302 |
| S | Phosphorylation | 317 |
| K | Acetylation | 32 |
| T | Phosphorylation | 293 |
| S | Phosphorylation | 299 |
| S | Phosphorylation | 2 |
| S | Phosphorylation | 326 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 154 |    ADRB2 |    187 |    NP_000015.1 |    in vitro;in vivo |    95   601   629   671   706    |
| 525 |    ATP6V1B1 |    1887 |    NP_001683.2 |    in vitro;in vivo |    10748165    |
| 529 |    ATP6V1E1 |    163 |    NP_001687.1 |    in vitro;in vivo |    10748165    |
| 1080 |    CFTR |    3883 |    NP_000483.3 |    in vitro;in vivo;yeast 2-hybrid |    10   852   925   967   741   200   000   000   000   000   000   000   000    |
| 1244 |    ABCC2 |    3065 |    NP_000383.1 |    in vitro |    12615054    |
| 1499 |    CTNNB1 |    286 |    NP_001895.1 |    in vitro;in vivo |    12830000    |
| 1811 |    SLC26A3 |    544 |    NP_000102.1 |    in vitro |    12369822    |
| 2776 |    GNAQ |    2998 |    NP_002063.2 |    in vivo |    12193606    |
| 4478 |    MSN |    2399 |    NP_002435.1 |    in vitro;in vivo;yeast 2-hybrid |    943   065   515   020   681    |
| 4843 |    NOS2 |    1225 |    NP_000616.3 |    in vitro;in vivo |    12080081    |
| 4986 |    OPRK1 |    1309 |    NP_000903.2 |    in vitro;in vivo |    1   200   405   515   070   900    |
| 5028 |    P2RY1 |    3103 |    NP_002554.1 |    in vitro |    9671706    |
| 5156 |    PDGFRA |    1429 |    NP_006197.1 |    in vitro |    1   188   266   311   046   130    |
| 5159 |    PDGFRB |    1423 |    NP_002600.1 |    in vitro;in vivo |    1   104   613   216   456   540    |
| 5330 |    PLCB2 |    4985 |    NP_004564.2 |    in vitro;in vivo |    10980202    |
| 5745 |    PTH1R |    1347 |    NP_000307.1 |    in vitro;in vivo |    12075354    |
| 5962 |    RDX |    1534 |    NP_002897.1 |    in vitro;in vivo |    124   995   639   430   655    |
| 6550 |    SLC9A3 |    1660 |    NP_004165.2 |    in vitro;yeast 2-hybrid |    14580213    |
| 6579 |    SLCO1A2 |    9112 |    NP_602307.1 |    yeast 2-hybrid |    15553237    |
| 6583 |    SLC22A4 |    9171 |    NP_003050.2 |    yeast 2-hybrid |    15553237    |
| 6584 |    SLC22A5 |    4539 |    NP_003051.1 |    yeast 2-hybrid |    15553237    |
| 7224 |    TRPC5 |    2273 |    NP_036603.1 |    in vitro;in vivo |    10980202    |
| 7430 |    EZR |    475 |    NP_003370.2 |    in vitro;in vivo |    931   453   715   020   681    |
| 9170 |    LPAR2 |    5487 |    AAC27728.1 |    in vitro |    16203867    |
| 11216 |    AKAP10 |    5259 |    NP_009133.2 |    in vitro |    14531806    |
| 114571 |    SLC22A9 |    6982 |    NP_543142.2 |    yeast 2-hybrid |    15553237    |
Pathway Information
No matching records could be found.
Structure Information
| PDB ID | 1G9O |
|---|---|
| Resolution | 1.5 |
| Method | X-RAY DIFFRACTION |
| Chains | A   |
| Molecule | NHE-RF   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00992 | Dec-91  | PDZ_signaling |
| cl00117 | Dec-91  | PDZ superfamily |
| cd00992 | 152-231  | PDZ_signaling |
| cl00117 | 152-231  | PDZ superfamily |
| smart00228 | Dec-93  | PDZ |
| smart00228 | 151-231  | PDZ |
| pfam09007 | 320-358  | EBP50_C-term |
| cl07569 | 320-358  | EBP50_C-term superfamily |
| cd00136 | 38-91  | PDZ |
| pfam00595 | 157-230  | PDZ |
| pfam00595 | 20-90  | PDZ |
| cd00136 | 162-231  | PDZ |
| cd00989 | 42-106  | PDZ_metalloprotease |
| cd00988 | 44-90  | PDZ_CTP_protease |
| cd00988 | 162-230  | PDZ_CTP_protease |
| cd00989 | 179-233  | PDZ_metalloprotease |
| cd00987 | 42-68  | PDZ_serine_protease |
| cd00987 | 172-231  | PDZ_serine_protease |
| pfam13180 | 36-82  | PDZ_2 |
| cd00990 | 24-69  | PDZ_glycyl_aminopeptidase |
| pfam13180 | 169-237  | PDZ_2 |
| TIGR02037 | 42-204  | degP_htrA_DO |
| COG0793 | 178-239  | CtpA |
| COG0793 | 42-99  | CtpA |
| PRK10779 | 42-80  | PRK10779 |
| TIGR02860 | 25-72  | spore_IV_B |
| TIGR00225 | 44-115  | prc |
| COG3975 | Aug-65  | COG3975 |
| PRK10779 | 182-233  | PRK10779 |
| TIGR02037 | 165-227  | degP_htrA_DO |
| TIGR00225 | 179-220  | prc |
| TIGR03900 | 42-82  | prc_long_Delta |
| COG3975 | 159-205  | COG3975 |
| TIGR02860 | 186-230  | spore_IV_B |
| COG0265 | 36-79  | DegQ |
| PRK13108 | 43-199  | PRK13108 |
| COG0265 | 169-231  | DegQ |
| TIGR00054 | 179-241  | TIGR00054 |
| COG0750 | 42-69  | RseP |
Ontology Information
| HPRD ID | 1554 |    
|---|---|
| Molecular Class | Membrane bound ligand |
| Molecular Function | Transmembrane receptor protein tyrosine kinase activity (GO:0004714) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
