• Gene id: 9368

Gene Summary

• Gene Symbol: SLC9A3R1   Gene   UCSC   Ensembl
• Aliases: EBP50, NHERF, NHERF-1, NHERF1, NPHLOP2
• Gene name: SLC9A3 regulator 1
• Alternate names: Na(+)/H(+) exchange regulatory cofactor NHE-RF1, Na+/H+ exchange regulatory co-factor, ezrin-radixin-moesin binding phosphoprotein-50, regulatory cofactor of Na(+)/H(+) exchanger, solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory facto,
• Gene location: 17q25.1 (147670523: 147626181)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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 rec
• OMIM: 604990

Protein Summary

• Protein general information: O14745  
  • Name: Na(+)/H(+) exchange regulatory cofactor NHE RF1 (NHERF 1) (Ezrin radixin moesin binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory
  • Length: 358  
  • Mass: 38868
  • Tissue specificity: Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast. {ECO
• Sequence:

  MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQV
  VSRIRAALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQREL
  RPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDE
  TKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQ
  DSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL

• Structural information:
  • Protein Domains: (14..9-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (154..23-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR015098  IPR031199  IPR017300  IPR001478  IPR041489   IPR036034  
  • Prosite: PS50106
  • PDB: 1G9O 1GQ4 1GQ5 1I92 1SGH 2D10 2JXO 2KJD 2KRG 2M0T 2M0U 2M0V 2OZF 4JL7 4LMM 4MPA 4N6X 4PQW 4Q3H
  • PDBsum: 1G9O 1GQ4 1GQ5 1I92 1SGH 2D10 2JXO 2KJD 2KRG 2M0T 2M0U 2M0V 2OZF 4JL7 4LMM 4MPA 4N6X 4PQW 4Q3H
  • DIP: 29092
  • STRING: ENSP00000262613
• Other Databases: GeneCards:  SLC9A3R1  Malacards:  SLC9A3R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0015185	gamma-aminobutyric acid transmembrane transporter activity	ISS	contributes to
GO:0031799	type 2 metabotropic glutamate receptor binding	IPI	molecular function
GO:0031800	type 3 metabotropic glutamate receptor binding	IPI	molecular function
GO:0098739	import across plasma membrane	ISS	biological process
GO:0007009	plasma membrane organization	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	ISS	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	IMP	biological process
GO:0044782	cilium organization	ISS	biological process
GO:0098797	plasma membrane protein complex	ISS	is active in
GO:0090660	cerebrospinal fluid circulation	ISS	biological process
GO:0090660	cerebrospinal fluid circulation	ISS	biological process
GO:0002009	morphogenesis of an epithelium	NAS	biological process
GO:0051939	gamma-aminobutyric acid import	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0097225	sperm midpiece	ISS	cellular component
GO:0070293	renal absorption	ISS	biological process
GO:0034635	glutathione transport	ISS	biological process
GO:0010642	negative regulation of platelet-derived growth factor receptor signaling pathway	ISS	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0097291	renal phosphate ion absorption	IMP	biological process
GO:0070851	growth factor receptor binding	IPI	molecular function
GO:0051898	negative regulation of protein kinase B signaling	IMP	biological process
GO:0045859	regulation of protein kinase activity	ISS	biological process
GO:0032782	bile acid secretion	ISS	biological process
GO:0031528	microvillus membrane	ISS	cellular component
GO:0030033	microvillus assembly	IMP	biological process
GO:0019902	phosphatase binding	IPI	molecular function
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003096	renal sodium ion transport	IEA	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IEA	biological process
GO:0010642	negative regulation of platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0019933	cAMP-mediated signaling	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030643	cellular phosphate ion homeostasis	IEA	biological process
GO:0032426	stereocilium tip	IEA	cellular component
GO:0034635	glutathione transport	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	IEA	biological process
GO:0070293	renal absorption	IEA	biological process
GO:0090660	cerebrospinal fluid circulation	IEA	biological process
GO:0097225	sperm midpiece	IEA	cellular component
GO:2000146	negative regulation of cell motility	IEA	biological process
GO:0015185	gamma-aminobutyric acid transmembrane transporter activity	IEA	molecular function
GO:0034767	positive regulation of ion transmembrane transport	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0045159	myosin II binding	IEA	molecular function
GO:0098739	import across plasma membrane	IEA	biological process
GO:0007009	plasma membrane organization	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0010766	negative regulation of sodium ion transport	IEA	biological process
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0019902	phosphatase binding	IEA	molecular function
GO:0031526	brush border membrane	IEA	cellular component
GO:0032416	negative regulation of sodium:proton antiporter activity	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0032782	bile acid secretion	IEA	biological process
GO:0034613	cellular protein localization	IEA	biological process
GO:0044062	regulation of excretion	IEA	biological process
GO:0044782	cilium organization	IEA	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	IEA	biological process
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0050780	dopamine receptor binding	IEA	molecular function
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0031528	microvillus membrane	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0051939	gamma-aminobutyric acid import	IEA	biological process
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0098797	plasma membrane protein complex	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:0071944	cell periphery	IDA	cellular component
GO:0043621	protein self-association	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0017081	chloride channel regulator activity	IDA	molecular function
GO:0005902	microvillus	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031982	vesicle	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031698	beta-2 adrenergic receptor binding	IPI	molecular function
GO:0030165	PDZ domain binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0032415	regulation of sodium:proton antiporter activity	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0045930	negative regulation of mitotic cell cycle	IMP	biological process
GO:0045198	establishment of epithelial cell apical/basal polarity	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008361	regulation of cell size	IMP	biological process
GO:0007097	nuclear migration	IMP	biological process
GO:0022612	gland morphogenesis	IMP	biological process
GO:0051683	establishment of Golgi localization	IMP	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Nephrolithiasis/osteoporosis, hypophosphatemic	KEGG:H00888
Nephrolithiasis/osteoporosis, hypophosphatemic	KEGG:H00888
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq