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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
SLC9A3R1 9368 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1  17EBP50; 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   2009Cell 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 PCRMethylation-SLC9A3R1 were methylated both in cell lines and tissues.

22440733   2012Cell 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, ImmunohistofluorescenceUp-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



Chromosome: 17; NC_000017.10 (72744751..72765499)

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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

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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

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Length 2032  



CDS Information


   
Locationjoin(236..676,13401..13562,14756..14909,18325..18365, 19536..19625,19857..20045)
CDS Sequence

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CCDS ID CCDS11705.1



Protein Information


      
Protein IDNP_004243.1
Protein NameSolute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Molecular Wt. (Da)38737
Protein Sequence

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Length 358  
Uniprot IDQ14249
Ensembl Protein ID ENSP00000361725  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation290
SPhosphorylation290
SPhosphorylation280;-
SPhosphorylation269;-
SPhosphorylation46
SPhosphorylation288
SPhosphorylation291
SPhosphorylation294
SPhosphorylation302
SPhosphorylation317
KAcetylation32
TPhosphorylation293
SPhosphorylation299
SPhosphorylation2
SPhosphorylation326

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
154ADRB2187NP_000015.1in vitro;in vivo95   601   629   671   706   
525ATP6V1B11887NP_001683.2in vitro;in vivo10748165   
529ATP6V1E1163NP_001687.1in vitro;in vivo10748165   
1080CFTR3883NP_000483.3in vitro;in vivo;yeast 2-hybrid10   852   925   967   741   200   000   000   000   000   000   000   000   
1244ABCC23065NP_000383.1in vitro12615054   
1499CTNNB1286NP_001895.1in vitro;in vivo12830000   
1811SLC26A3544NP_000102.1in vitro12369822   
2776GNAQ2998NP_002063.2in vivo12193606   
4478MSN2399NP_002435.1in vitro;in vivo;yeast 2-hybrid943   065   515   020   681   
4843NOS21225NP_000616.3in vitro;in vivo12080081   
4986OPRK11309NP_000903.2in vitro;in vivo1   200   405   515   070   900   
5028P2RY13103NP_002554.1in vitro9671706   
5156PDGFRA1429NP_006197.1in vitro1   188   266   311   046   130   
5159PDGFRB1423NP_002600.1in vitro;in vivo1   104   613   216   456   540   
5330PLCB24985NP_004564.2in vitro;in vivo10980202   
5745PTH1R1347NP_000307.1in vitro;in vivo12075354   
5962RDX1534NP_002897.1in vitro;in vivo124   995   639   430   655   
6550SLC9A31660NP_004165.2in vitro;yeast 2-hybrid14580213   
6579SLCO1A29112NP_602307.1yeast 2-hybrid15553237   
6583SLC22A49171NP_003050.2yeast 2-hybrid15553237   
6584SLC22A54539NP_003051.1yeast 2-hybrid15553237   
7224TRPC52273NP_036603.1in vitro;in vivo10980202   
7430EZR475NP_003370.2in vitro;in vivo931   453   715   020   681   
9170LPAR25487AAC27728.1in vitro16203867   
11216AKAP105259NP_009133.2in vitro14531806   
114571SLC22A96982NP_543142.2yeast 2-hybrid15553237   


Pathway Information


No matching records could be found.

Structure Information


PDB ID1G9O
Resolution1.5
MethodX-RAY DIFFRACTION
Chains A  
Molecule NHE-RF  
Model View



Domain Information




ID Location Description
cd00992Dec-91  PDZ_signaling
cl00117Dec-91  PDZ superfamily
cd00992152-231  PDZ_signaling
cl00117152-231  PDZ superfamily
smart00228Dec-93  PDZ
smart00228151-231  PDZ
pfam09007320-358  EBP50_C-term
cl07569320-358  EBP50_C-term superfamily
cd0013638-91  PDZ
pfam00595157-230  PDZ
pfam0059520-90  PDZ
cd00136162-231  PDZ
cd0098942-106  PDZ_metalloprotease
cd0098844-90  PDZ_CTP_protease
cd00988162-230  PDZ_CTP_protease
cd00989179-233  PDZ_metalloprotease
cd0098742-68  PDZ_serine_protease
cd00987172-231  PDZ_serine_protease
pfam1318036-82  PDZ_2
cd0099024-69  PDZ_glycyl_aminopeptidase
pfam13180169-237  PDZ_2
TIGR0203742-204  degP_htrA_DO
COG0793178-239  CtpA
COG079342-99  CtpA
PRK1077942-80  PRK10779
TIGR0286025-72  spore_IV_B
TIGR0022544-115  prc
COG3975Aug-65  COG3975
PRK10779182-233  PRK10779
TIGR02037165-227  degP_htrA_DO
TIGR00225179-220  prc
TIGR0390042-82  prc_long_Delta
COG3975159-205  COG3975
TIGR02860186-230  spore_IV_B
COG026536-79  DegQ
PRK1310843-199  PRK13108
COG0265169-231  DegQ
TIGR00054179-241  TIGR00054
COG075042-69  RseP


Ontology Information


   
HPRD ID1554
Molecular ClassMembrane bound ligand
Molecular FunctionTransmembrane receptor protein tyrosine kinase activity (GO:0004714)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO