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SLC9A3R1 (solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1)

Written2010-12Wendy S McDonough, Michael E Berens
The Translational Genomics Research Institute, 445 N Fifth Street, Phoenix, Arizona 85004, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namessolute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1
solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1
solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
Alias_symbol (synonym)NHERF
EBP50
Other aliasNHERF1
NPHLOP2
HGNC (Hugo) SLC9A3R1
LocusID (NCBI) 9368
Atlas_Id 46023
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 74748612 and ends at 74769360 bp from pter ( according to hg19-Feb_2009)  [Mapping SLC9A3R1.png]
 
  SLC9A3R1 Physical Map.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SLC9A3R1 (17q25.1) / MALAT1 (11q13.1)SLC9A3R1 (17q25.1) / RABEP1 (17p13.2)SLC9A3R1 (17q25.1) / SLC9A3R1 (17q25.1)
SLC9A3R1 (17q25.1) / VASH2 (1q32.3)TBCD (17q25.3) / SLC9A3R1 (17q25.1)TMEM104 (17q25.1) / SLC9A3R1 (17q25.1)
TNRC18 (7p22.1) / SLC9A3R1 (17q25.1)

DNA/RNA

 
  DNA size 20.71 Kb; mRNA size 1978 bp; 6 exons.
Description The SLC9A3R1 gene is comprised of 6 exons and spans approximately 20.7 kb of genomic DNA.
Transcription The SLC9A3R1 gene encodes a 1978 bp mRNA transcript.
Reported regulatory transcription factor binding sites upstream of the SLC9A3R1 promoter region include: NF-kappaB1, HNF-4alpha2, COUP-TF1, NF-kappaB, NRSF form 2, NRSF form 1, FOXD1, PPAR-gamma2, PPAR-gamma1, GATA-1.

Protein

 
  NHERF (human)-358 aminos acids.
Description The SLC9A3R1 protein is composed of 353 amino acids (389 kDa).
Post-transcriptional regulation of SLC9A3R1 occurs via Serines S77-p, S162-p, S339-p, S340-p.
SLC9A3R1 is also phosphroylated on T95-p.
SLC9A3R1 has two PDZ (DHR) domains.
SLC9A3R1 can exist as a homodimer or heterodimer with SLC9A3R2.
Expression SLC9A3R1 is expressed in liver, salivary glands, kidney, pancreas, trachea, small intestine, stomach, prostate and brain.
Localisation SLC9A3R1 is a cytoplasmic protein. SLC9A3R1 translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. SLC9A3R1 colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. SLC9A3R1 has been found in microvilli, ruffling membrane and filopodia of HeLa cells. SLC9A3R1 is also been discovered in lipid rafts of T-cells.
Subcellular localization is present in cells with apical specialized structure such as micorvili and cilia. SLC9A3R1 also has a membranous expression in cells of non-epithelial origin (astrocytes) and hematopoietic stem cells and has been found in membrane rafts in lymphocytes and at the rear edge of neutrophils.
Function SLC9A3R1 is a scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton to regulate their surface expression. SLC9A3R1 has been shown to be necessary for recycling of internalized ADRB2. SLC9A3R1 regulates SLC9A3 as well as its subcellular location. SLC9A3R1 is required for cAMP-mediated phosphorylation and inhibition of SLC9A3R1. SLC9A3R1 interacts with MCC. SLC9A3R1 may participate in HTR4 targeting to microvilli. SLC9A3R1 has been shown to play a role in the WNT signaling pathway.
Induction: SLC9A3R1 can be induced by estrogen.
SLC9A3R1 has been show to have binary interaction with the following proteins: CFTR, CLCN3, MSN, NF2, RDX.

Mutations

Note SLC9A3R1 has been shown to have three natural variants.
Natural variant 110L --> V in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cyclic AMP (cAMP) by parathyroid hormone (PTH) and inhibits phosphate transport.
Natural variant 153R --> Q in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport.
Natural variant 225E --> K in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport.

Implicated in

Note
  
Entity Cancer progression
Note There is growing evidence SLC9A3R1 plays an important role in cancer progression. SLC9A3R1 functions as an adaptor protein to control cell transformation. In addition, recent evidence suggests that SLC9A3R1 has a dual role either acting as a tumor suppressor when it is localized as the cell membrane or as an oncogenic protein when it is localized in the cytoplasm (Georgescu et al., 2008).
  
  
Entity Glioblastoma
Note The invasive nature of glioblastoma multiforme presents a clinical problem rendering tumors incurable by conventional treatment modalities such as surgery, ionizing radiation, and temozolomide.
SLC9A3R1 has been implicated to play a role in sustaining glioma cell migration and invasion. SLC9A3R1 has been shown to be over-expressed in invading glioma cells as compared to the tumor core (Kislin et al., 2009).
  
  
Entity Breast cancer
Note Increased cytoplasmic expression of SLC9A3R1 in breast tumors suggests a key role of its localization and compartmentalization in defining cancerogenesis, progression, and invasion. SLC9A3R1 overexpression has been associated with increasing tumor cytohistological grade, aggressive clinical behavior, unfavorable prognosis, and increased tumor hypoxia. Moreover, SLC9A3R1 co-localizes with the oncogenic receptor HER2/neu in HER2/neu-overexpressing carcinoma and in distant metastases (Mangia et al., 2009).
The switch from apical membranous to cytoplasmic expression is compatible with a dual role for NHERF1 as a tumour suppressor or tumour promoter dependent on its subcellular localization (Georgescu et al., 2008).
  
  
Entity Cystic fibrosis
Note The inherited disease cystic fibrosis is one of the most common chronic lung diseases in children and young adults and may lead to an early death.
Cystic fibrosis transmembrane regulator (CFTR) functions as a cAMP-regulated chloride channel, and mutations in CFTR are contributory in cystic fibrosis. CFTR contains a C-terminal SLC9A3R1 consensus sequence affording the two proteins to bind with high affinity. Recent experiments have postulated two roles for SLC9A3R1 in CFTR function. Guggino, Stanton, and coworkers have proposed that NHERF functions as a membrane retention signal for CFTR (Moyer et al., 1999).
Raghuram et al. suggest that SLC9A3R1 facilitates the dimerization of CFTR leading to its full expression of chloride channel activity (Raghuram et al., 2001).
Lastly, ss2-adrenoceptors have been shown to physically interact with CFTR Na+/H+ Exchanger Regulatory Factor 1 SLC9A3R1 protein. This function of SLC9A3R1 could be a new therapeutic target in CF patients to facilitate the trafficking of mutated CFTR to plasma membrane (Bossard et al., 2011).
  
  
Entity Hypophosphatemia and nephrolithiasis
Note SLC9A3R1 plays an important role in tumor phosphorous transport. Inactivating missense mutations in SLC9AR1 have been identified in patients with hypercalciuria and neprolithiasis (Karim et al., 2008).
  

To be noted

We acknowledge the support of Michael Northrop for scientific illustrations.

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PMID 12004055
 
Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor.
Liedtke CM, Yun CH, Kyle N, Wang D.
J Biol Chem. 2002 Jun 21;277(25):22925-33. Epub 2002 Apr 15.
PMID 11956211
 
Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling.
Mahon MJ, Donowitz M, Yun CC, Segre GV.
Nature. 2002 Jun 20;417(6891):858-61.
PMID 12075354
 
Biological role of NHERF1 protein expression in breast cancer.
Mangia A, Chiriatti A, Bellizzi A, Malfettone A, Stea B, Zito FA, Reshkin SJ, Simone G, Paradiso A.
Histopathology. 2009 Nov;55(5):600-8.
PMID 19912366
 
Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Marangoni S, Novello JC, Maccarrone G, Turck CW, Dias-Neto E.
J Neural Transm. 2009b Mar;116(3):275-89. Epub 2008 Nov 26.
PMID 19034380
 
Platelet-derived growth factor receptor association with Na(+)/H(+) exchanger regulatory factor potentiates receptor activity.
Maudsley S, Zamah AM, Rahman N, Blitzer JT, Luttrell LM, Lefkowitz RJ, Hall RA.
Mol Cell Biol. 2000 Nov;20(22):8352-63.
PMID 11046132
 
Modulation of renal apical organic anion transporter 4 function by two PDZ domain-containing proteins.
Miyazaki H, Anzai N, Ekaratanawong S, Sakata T, Shin HJ, Jutabha P, Hirata T, He X, Nonoguchi H, Tomita K, Kanai Y, Endou H.
J Am Soc Nephrol. 2005 Dec;16(12):3498-506. Epub 2005 Oct 19.
PMID 16236806
 
Yes-associated protein 65 localizes p62(c-Yes) to the apical compartment of airway epithelia by association with EBP50.
Mohler PJ, Kreda SM, Boucher RC, Sudol M, Stutts MJ, Milgram SL.
J Cell Biol. 1999 Nov 15;147(4):879-90.
PMID 10562288
 
Loss of PTEN binding adapter protein NHERF1 from plasma membrane in glioblastoma contributes to PTEN inactivation.
Molina JR, Morales FC, Hayashi Y, Aldape KD, Georgescu MM.
Cancer Res. 2010 Sep 1;70(17):6697-703. Epub 2010 Aug 24.
PMID 20736378
 
NHERF1/EBP50 head-to-tail intramolecular interaction masks association with PDZ domain ligands.
Morales FC, Takahashi Y, Momin S, Adams H, Chen X, Georgescu MM.
Mol Cell Biol. 2007 Apr;27(7):2527-37. Epub 2007 Jan 22.
PMID 17242191
 
A PDZ-interacting domain in CFTR is an apical membrane polarization signal.
Moyer BD, Denton J, Karlson KH, Reynolds D, Wang S, Mickle JE, Milewski M, Cutting GR, Guggino WB, Li M, Stanton BA.
J Clin Invest. 1999 Nov;104(10):1353-61.
PMID 10562297
 
The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane.
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J Biol Chem. 2000 Sep 1;275(35):27069-74.
PMID 10852925
 
NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
Murthy A, Gonzalez-Agosti C, Cordero E, Pinney D, Candia C, Solomon F, Gusella J, Ramesh V.
J Biol Chem. 1998 Jan 16;273(3):1273-6.
PMID 9430655
 
Cellular retinaldehyde-binding protein interacts with ERM-binding phosphoprotein 50 in retinal pigment epithelium.
Nawrot M, West K, Huang J, Possin DE, Bretscher A, Crabb JW, Saari JC.
Invest Ophthalmol Vis Sci. 2004 Feb;45(2):393-401.
PMID 14744877
 
ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC.
Ogura T, Furukawa T, Toyozaki T, Yamada K, Zheng YJ, Katayama Y, Nakaya H, Inagaki N.
FASEB J. 2002 Jun;16(8):863-5. Epub 2002 Apr 10.
PMID 11967229
 
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M.
Cell. 2006 Nov 3;127(3):635-48.
PMID 17081983
 
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Sen
Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21.
PMID 14702039
 
Suppression of breast cancer cell growth by Na+/H+ exchanger regulatory factor 1 (NHERF1).
Pan Y, Wang L, Dai JL.
Breast Cancer Res. 2006;8(6):R63.
PMID 17078868
 
The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.
Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I.
J Biol Chem. 2002 Dec 27;277(52):50503-9. Epub 2002 Oct 25.
PMID 12403779
 
The COOH termini of NBC3 and the 56-kDa H+-ATPase subunit are PDZ motifs involved in their interaction.
Pushkin A, Abuladze N, Newman D, Muronets V, Sassani P, Tatishchev S, Kurtz I.
Am J Physiol Cell Physiol. 2003 Mar;284(3):C667-73. Epub 2002 Nov 20.
PMID 12444018
 
Regulation of cystic fibrosis transmembrane conductance regulator single-channel gating by bivalent PDZ-domain-mediated interaction.
Raghuram V, Mak DO, Foskett JK.
Proc Natl Acad Sci U S A. 2001 Jan 30;98(3):1300-5. Epub 2001 Jan 23.
PMID 11158634
 
Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family.
Reczek D, Berryman M, Bretscher A.
J Cell Biol. 1997 Oct 6;139(1):169-79.
PMID 9314537
 
Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP.
Reczek D, Bretscher A.
J Cell Biol. 2001 Apr 2;153(1):191-206.
PMID 11285285
 
Epithelial genes in chronic rhinosinusitis with and without nasal polyps.
Richer SL, Truong-Tran AQ, Conley DB, Carter R, Vermylen D, Grammer LC, Peters AT, Chandra RK, Harris KE, Kern RC, Schleimer RP.
Am J Rhinol. 2008 May-Jun;22(3):228-34.
PMID 18588753
 
Galphaq-coupled receptor internalization specifically induced by Galphaq signaling. Regulation by EBP50.
Rochdi MD, Parent JL.
J Biol Chem. 2003 May 16;278(20):17827-37. Epub 2003 Mar 7.
PMID 12626493
 
Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50).
Rochdi MD, Watier V, La Madeleine C, Nakata H, Kozasa T, Parent JL.
J Biol Chem. 2002 Oct 25;277(43):40751-9. Epub 2002 Aug 21.
PMID 12193606
 
Inhibition of T cell activation by cyclic adenosine 5'-monophosphate requires lipid raft targeting of protein kinase A type I by the A-kinase anchoring protein ezrin.
Ruppelt A, Mosenden R, Gronholm M, Aandahl EM, Tobin D, Carlson CR, Abrahamsen H, Herberg FW, Carpen O, Tasken K.
J Immunol. 2007 Oct 15;179(8):5159-68.
PMID 17911601
 
EBP50, a beta-catenin-associating protein, enhances Wnt signaling and is over-expressed in hepatocellular carcinoma.
Shibata T, Chuma M, Kokubu A, Sakamoto M, Hirohashi S.
Hepatology. 2003 Jul;38(1):178-86.
PMID 12830000
 
An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton.
Short DB, Trotter KW, Reczek D, Kreda SM, Bretscher A, Boucher RC, Stutts MJ, Milgram SL.
J Biol Chem. 1998 Jul 31;273(31):19797-801.
PMID 9677412
 
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
Smyth DJ, Howson JM, Payne F, Maier LM, Bailey R, Holland K, Lowe CE, Cooper JD, Hulme JS, Vella A, Dahlman I, Lam AC, Nutland S, Walker NM, Twells RC, Todd JA.
BMC Med Genet. 2006 Mar 6;7:20.
PMID 16519819
 
Activation-independent parathyroid hormone receptor internalization is regulated by NHERF1 (EBP50).
Sneddon WB, Syme CA, Bisello A, Magyar CE, Rochdi MD, Parent JL, Weinman EJ, Abou-Samra AB, Friedman PA.
J Biol Chem. 2003 Oct 31;278(44):43787-96. Epub 2003 Aug 14.
PMID 12920119
 
Expression and clinicopathological significance of oestrogen-responsive ezrin-radixin-moesin-binding phosphoprotein 50 in breast cancer.
Song J, Bai J, Yang W, Gabrielson EW, Chan DW, Zhang Z.
Histopathology. 2007 Jul;51(1):40-53.
PMID 17593079
 
Defining the human deubiquitinating enzyme interaction landscape.
Sowa ME, Bennett EJ, Gygi SP, Harper JW.
Cell. 2009 Jul 23;138(2):389-403. Epub 2009 Jul 16.
PMID 19615732
 
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA; Mammalian Gene Collection Program Team.
Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
PMID 12477932
 
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S.
Genome Res. 2004 Sep;14(9):1711-8.
PMID 15342556
 
PTEN tumor suppressor associates with NHERF proteins to attenuate PDGF receptor signaling.
Takahashi Y, Morales FC, Kreimann EL, Georgescu MM.
EMBO J. 2006 Feb 22;25(4):910-20. Epub 2006 Feb 2.
PMID 16456542
 
Association of mammalian trp4 and phospholipase C isozymes with a PDZ domain-containing protein, NHERF.
Tang Y, Tang J, Chen Z, Trost C, Flockerzi V, Li M, Ramesh V, Zhu MX.
J Biol Chem. 2000 Dec 1;275(48):37559-64.
PMID 10980202
 
Stimulation of beta 2-adrenergic receptor increases cystic fibrosis transmembrane conductance regulator expression in human airway epithelial cells through a cAMP/protein kinase A-independent pathway.
Taouil K, Hinnrasky J, Hologne C, Corlieu P, Klossek JM, Puchelle E.
J Biol Chem. 2003 May 9;278(19):17320-7. Epub 2003 Mar 5.
PMID 12621035
 
Structural basis for NHERF recognition by ERM proteins.
Terawaki S, Maesaki R, Hakoshima T.
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PMID 16615918
 
Phosphorylation of PDZ1 domain attenuates NHERF-1 binding to cellular targets.
Voltz JW, Brush M, Sikes S, Steplock D, Weinman EJ, Shenolikar S.
J Biol Chem. 2007 Nov 16;282(46):33879-87. Epub 2007 Sep 25.
PMID 17895247
 
Na/H exchanger regulatory factors control parathyroid hormone receptor signaling by facilitating differential activation of G(alpha) protein subunits.
Wang B, Ardura JA, Romero G, Yang Y, Hall RA, Friedman PA.
J Biol Chem. 2010 Aug 27;285(35):26976-86. Epub 2010 Jun 18.
PMID 20562104
 
NHERF1 regulates parathyroid hormone receptor membrane retention without affecting recycling.
Wang B, Bisello A, Yang Y, Romero GG, Friedman PA.
J Biol Chem. 2007 Dec 14;282(50):36214-22. Epub 2007 Sep 19.
PMID 17884816
 
NHERF1 regulates parathyroid hormone receptor desensitization: interference with beta-arrestin binding.
Wang B, Yang Y, Abou-Samra AB, Friedman PA.
Mol Pharmacol. 2009 May;75(5):1189-97. Epub 2009 Feb 2.
PMID 19188335
 
Peptide binding consensus of the NHE-RF-PDZ1 domain matches the C-terminal sequence of cystic fibrosis transmembrane conductance regulator (CFTR).
Wang S, Raab RW, Schatz PJ, Guggino WB, Li M.
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Mol Cell Biol. 2010 Feb;30(3):711-21. Epub 2009 Dec 7.
PMID 19995908
 
Assembly and trafficking of a multiprotein ROMK (Kir 1.1) channel complex by PDZ interactions.
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J Biol Chem. 2004 Feb 20;279(8):6863-73. Epub 2003 Nov 5.
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Pharm Res. 2010 Apr;27(4):589-96. Epub 2010 Feb 6.
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Citation

This paper should be referenced as such :
McDonough, WS ; Berens, ME
SLC9A3R1 (solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(8):637-644.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SLC9A3R1ID46023ch17q25.html


External links

Nomenclature
HGNC (Hugo)SLC9A3R1   11075
Cards
AtlasSLC9A3R1ID46023ch17q25
Entrez_Gene (NCBI)SLC9A3R1  9368  SLC9A3 regulator 1
AliasesEBP50; NHERF; NHERF-1; NHERF1; 
NPHLOP2
GeneCards (Weizmann)SLC9A3R1
Ensembl hg19 (Hinxton)ENSG00000109062 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109062 [Gene_View]  chr17:74748612-74769360 [Contig_View]  SLC9A3R1 [Vega]
ICGC DataPortalENSG00000109062
TCGA cBioPortalSLC9A3R1
AceView (NCBI)SLC9A3R1
Genatlas (Paris)SLC9A3R1
WikiGenes9368
SOURCE (Princeton)SLC9A3R1
Genetics Home Reference (NIH)SLC9A3R1
Genomic and cartography
GoldenPath hg38 (UCSC)SLC9A3R1  -     chr17:74748612-74769360 +  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC9A3R1  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblSLC9A3R1 - 17q25.1 [CytoView hg19]  SLC9A3R1 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBISLC9A3R1 [Mapview hg19]  SLC9A3R1 [Mapview hg38]
OMIM604990   612287   
Gene and transcription
Genbank (Entrez)AF015926 AF036241 AI203594 AK026581 AK094467
RefSeq transcript (Entrez)NM_004252
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC9A3R1
Cluster EST : UnigeneHs.744126 [ NCBI ]
CGAP (NCI)Hs.744126
Alternative Splicing GalleryENSG00000109062
Gene ExpressionSLC9A3R1 [ NCBI-GEO ]   SLC9A3R1 [ EBI - ARRAY_EXPRESS ]   SLC9A3R1 [ SEEK ]   SLC9A3R1 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC9A3R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9368
GTEX Portal (Tissue expression)SLC9A3R1
Human Protein AtlasENSG00000109062-SLC9A3R1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14745   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14745  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14745
Splice isoforms : SwissVarO14745
PhosPhoSitePlusO14745
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)EBP50_C-term    NHERF-1    NHERF-1/NHERF-2    PDZ   
Domain families : Pfam (Sanger)EBP50_C (PF09007)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam09007    pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Domain structure : Prodom (Prabi Lyon)EBP50_C-term (PD283022)   
Conserved Domain (NCBI)SLC9A3R1
DMDM Disease mutations9368
Blocks (Seattle)SLC9A3R1
PDB (SRS)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
PDB (PDBSum)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
PDB (IMB)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
PDB (RSDB)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
Structural Biology KnowledgeBase1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
SCOP (Structural Classification of Proteins)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
CATH (Classification of proteins structures)1G9O    1GQ4    1GQ5    1I92    1SGH    2D10    2JXO    2KJD    2KRG    2M0T    2M0U    2M0V    2OZF    4JL7    4LMM    4MPA    4N6X    4PQW    4Q3H   
SuperfamilyO14745
Human Protein Atlas [tissue]ENSG00000109062-SLC9A3R1 [tissue]
Peptide AtlasO14745
HPRD05406
IPIIPI00003527   IPI00902652   
Protein Interaction databases
DIP (DOE-UCLA)O14745
IntAct (EBI)O14745
FunCoupENSG00000109062
BioGRIDSLC9A3R1
STRING (EMBL)SLC9A3R1
ZODIACSLC9A3R1
Ontologies - Pathways
QuickGOO14745
Ontology : AmiGOruffle  renal sodium ion transport  receptor binding  protein binding  nucleus  cytoplasm  microvillus  protein complex assembly  adenylate cyclase-activating dopamine receptor signaling pathway  sensory perception of sound  beta-catenin binding  negative regulation of cell proliferation  negative regulation of cell proliferation  regulation of cell shape  regulation of cell size  negative regulation of platelet-derived growth factor receptor signaling pathway  endomembrane system  negative regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton  membrane  Wnt signaling pathway  apical plasma membrane  chloride channel regulator activity  phosphatase binding  cAMP-mediated signaling  gland morphogenesis  microvillus assembly  actin cytoskeleton organization  PDZ domain binding  filopodium  negative regulation of cell migration  cellular phosphate ion homeostasis  brush border membrane  microvillus membrane  beta-2 adrenergic receptor binding  vesicle  protein complex binding  regulation of sodium:proton antiporter activity  negative regulation of sodium:proton antiporter activity  stereocilium tip  bile acid secretion  protein complex scaffold  glutathione transport  negative regulation of catenin import into nucleus  establishment of nucleus localization  protein self-association  regulation of excretion  membrane raft  myosin II binding  establishment of epithelial cell apical/basal polarity  regulation of protein kinase activity  negative regulation of mitotic cell cycle  perinuclear region of cytoplasm  dopamine receptor binding  establishment of Golgi localization  negative regulation of protein kinase B signaling  auditory receptor cell stereocilium organization  phospholipase C-activating dopamine receptor signaling pathway  extracellular exosome  renal absorption  negative regulation of ERK1 and ERK2 cascade  growth factor receptor binding  cell periphery  establishment of protein localization to plasma membrane  sperm midpiece  renal phosphate ion absorption  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIruffle  renal sodium ion transport  receptor binding  protein binding  nucleus  cytoplasm  microvillus  protein complex assembly  adenylate cyclase-activating dopamine receptor signaling pathway  sensory perception of sound  beta-catenin binding  negative regulation of cell proliferation  negative regulation of cell proliferation  regulation of cell shape  regulation of cell size  negative regulation of platelet-derived growth factor receptor signaling pathway  endomembrane system  negative regulation of phosphatidylinositol 3-kinase signaling  actin cytoskeleton  membrane  Wnt signaling pathway  apical plasma membrane  chloride channel regulator activity  phosphatase binding  cAMP-mediated signaling  gland morphogenesis  microvillus assembly  actin cytoskeleton organization  PDZ domain binding  filopodium  negative regulation of cell migration  cellular phosphate ion homeostasis  brush border membrane  microvillus membrane  beta-2 adrenergic receptor binding  vesicle  protein complex binding  regulation of sodium:proton antiporter activity  negative regulation of sodium:proton antiporter activity  stereocilium tip  bile acid secretion  protein complex scaffold  glutathione transport  negative regulation of catenin import into nucleus  establishment of nucleus localization  protein self-association  regulation of excretion  membrane raft  myosin II binding  establishment of epithelial cell apical/basal polarity  regulation of protein kinase activity  negative regulation of mitotic cell cycle  perinuclear region of cytoplasm  dopamine receptor binding  establishment of Golgi localization  negative regulation of protein kinase B signaling  auditory receptor cell stereocilium organization  phospholipase C-activating dopamine receptor signaling pathway  extracellular exosome  renal absorption  negative regulation of ERK1 and ERK2 cascade  growth factor receptor binding  cell periphery  establishment of protein localization to plasma membrane  sperm midpiece  renal phosphate ion absorption  positive regulation of intrinsic apoptotic signaling pathway  
Pathways : BIOCARTACystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway [Genes]   
NDEx NetworkSLC9A3R1
Atlas of Cancer Signalling NetworkSLC9A3R1
Wikipedia pathwaysSLC9A3R1
Orthology - Evolution
OrthoDB9368
GeneTree (enSembl)ENSG00000109062
Phylogenetic Trees/Animal Genes : TreeFamSLC9A3R1
HOVERGENO14745
HOGENOMO14745
Homologs : HomoloGeneSLC9A3R1
Homology/Alignments : Family Browser (UCSC)SLC9A3R1
Gene fusions - Rearrangements
Fusion : MitelmanSLC9A3R1/RABEP1 [17q25.1/17p13.2]  
Fusion : MitelmanTBCD/SLC9A3R1 [17q25.3/17q25.1]  [t(17;17)(q25;q25)]  
Fusion : MitelmanTNRC18/SLC9A3R1 [7p22.1/17q25.1]  [t(7;17)(p22;q25)]  
Fusion: TCGASLC9A3R1 17q25.1 RABEP1 17p13.2 BRCA
Fusion: TCGATBCD 17q25.3 SLC9A3R1 17q25.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC9A3R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC9A3R1
dbVarSLC9A3R1
ClinVarSLC9A3R1
1000_GenomesSLC9A3R1 
Exome Variant ServerSLC9A3R1
ExAC (Exome Aggregation Consortium)ENSG00000109062
GNOMAD BrowserENSG00000109062
Genetic variants : HAPMAP9368
Genomic Variants (DGV)SLC9A3R1 [DGVbeta]
DECIPHERSLC9A3R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC9A3R1 
Mutations
ICGC Data PortalSLC9A3R1 
TCGA Data PortalSLC9A3R1 
Broad Tumor PortalSLC9A3R1
OASIS PortalSLC9A3R1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC9A3R1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC9A3R1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC9A3R1
DgiDB (Drug Gene Interaction Database)SLC9A3R1
DoCM (Curated mutations)SLC9A3R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC9A3R1 (select a term)
intoGenSLC9A3R1
NCG5 (London)SLC9A3R1
Cancer3DSLC9A3R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604990    612287   
Orphanet19477   
MedgenSLC9A3R1
Genetic Testing Registry SLC9A3R1
NextProtO14745 [Medical]
TSGene9368
GENETestsSLC9A3R1
Target ValidationSLC9A3R1
Huge Navigator SLC9A3R1 [HugePedia]
snp3D : Map Gene to Disease9368
BioCentury BCIQSLC9A3R1
ClinGenSLC9A3R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9368
Chemical/Pharm GKB GenePA35931
Clinical trialSLC9A3R1
Miscellaneous
canSAR (ICR)SLC9A3R1 (select the gene name)
Probes
Litterature
PubMed205 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC9A3R1
EVEXSLC9A3R1
GoPubMedSLC9A3R1
iHOPSLC9A3R1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:33:54 CEST 2017

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