AutismKB 2.0

Annotation Details for SLC9A3R1


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Basic Information Top
Gene Symbol:SLC9A3R1 ( EBP50,NHERF,NHERF1,NPHLOP2 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Band: 17q25.1
Quick LinksEntrez ID:9368; OMIM: 604990; Uniprot ID:NHRF1_HUMAN; ENSEMBL ID: ENSG00000109062; HGNC ID: 11075
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001726IEA-ruffle-
GO:0005634IDANOTnucleus17895247
GO:0005737IDA-cytoplasm17895247
GO:0005902IDA-microvillus17242191
GO:0012505IEA-endomembrane system-
GO:0015629TAS-actin cytoskeleton9430655
GO:0016020IDA-membrane20736378
GO:0016324IDA-apical plasma membrane24862762
GO:0030175IEA-filopodium-
GO:0031526IEA-brush border membrane-
GO:0031528ISS-microvillus membrane-
GO:0031982IDA-vesicle19190083
GO:0032426IEA-stereocilium tip-
GO:0045121IEA-membrane raft-
GO:0048471IDA-perinuclear region of cytoplasm24862762
GO:0070062IDA-extracellular exosome19056867
GO:0071944IDA-cell periphery17895247
GO:0097225ISS-sperm midpiece-
GO ID Evidence Qualifier GO_term References
GO:0005102IPI-receptor binding16456542
GO:0005515IPI-protein binding9430655
GO:0008013IPI-beta-catenin binding17242191
GO:0017081IDA-chloride channel regulator activity12881487
GO:0019902IPI-phosphatase binding16456542
GO:0030165IPI-PDZ domain binding16236806
GO:0031698IPI-beta-2 adrenergic receptor binding9560162
GO:0032403IEA-protein complex binding-
GO:0032947IEA-protein complex scaffold-
GO:0043621IDA-protein self-association17242191
GO:0045159IEA-myosin II binding-
GO:0050780IEA-dopamine receptor binding-
GO:0070851IPI-growth factor receptor binding17242191
GO ID Evidence Qualifier GO_term References
GO:0003096IEA-renal sodium ion transport-
GO:0006461TAS-protein complex assembly9430655
GO:0007191IEA-adenylate cyclase-activating dopamine receptor signaling pathway-
GO:0007605IEA-sensory perception of sound-
GO:0008285IDA-negative regulation of cell proliferation20012548
GO:0008285IMP-negative regulation of cell proliferation20736378
GO:0008360IMP-regulation of cell shape24862762
GO:0008361IMP-regulation of cell size24862762
GO:0010642ISS-negative regulation of platelet-derived growth factor receptor signaling pathway-
GO:0014067ISS-negative regulation of phosphatidylinositol 3-kinase signaling-
GO:0016055IEA-Wnt signaling pathway-
GO:0019933IEA-cAMP-mediated signaling-
GO:0022612IMP-gland morphogenesis24862762
GO:0030033IMP-microvillus assembly20937695
GO:0030036IEA-actin cytoskeleton organization-
GO:0030336IEA-negative regulation of cell migration-
GO:0030643IEA-cellular phosphate ion homeostasis-
GO:0032415NAS-regulation of sodium:proton antiporter activity9560162
GO:0032416IEA-negative regulation of sodium:proton antiporter activity-
GO:0032782ISS-bile acid secretion-
GO:0034635ISS-glutathione transport-
GO:0035414IMP-negative regulation of catenin import into nucleus24862762
GO:0040023IMP-establishment of nucleus localization24862762
GO:0044062IEA-regulation of excretion-
GO:0045198IMP-establishment of epithelial cell apical/basal polarity24862762
GO:0045859ISS-regulation of protein kinase activity-
GO:0045930IMP-negative regulation of mitotic cell cycle24862762
GO:0051683IMP-establishment of Golgi localization24862762
GO:0051898IMP-negative regulation of protein kinase B signaling20736378
GO:0060088IEA-auditory receptor cell stereocilium organization-
GO:0060158IEA-phospholipase C-activating dopamine receptor signaling pathway-
GO:0070293ISS-renal absorption-
GO:0070373IDA-negative regulation of ERK1 and ERK2 cascade20012548
GO:0090002IMP-establishment of protein localization to plasma membrane24862762
GO:0097291IMP-renal phosphate ion absorption18784102
GO:2001244IDA-positive regulation of intrinsic apoptotic signaling pathway20012548
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SLC9A3R1ADRB21147699560162 9671706 11882663 Co-crystal Structure; Reconstituted Complex
SLC9A3R1ADRB21066639560162 9671706 11882663 Co-crystal Structure; Reconstituted Complex
SLC9A3R1CFTR1147699613608 9671706 9677412 10852925 12403779 12471024 12615054 Affinity Capture-Western; Protein-peptide; Reconstituted Complex
SLC9A3R1CFTR1075069613608 9671706 9677412 10852925 12403779 12471024 12615054 Affinity Capture-Western; Protein-peptide; Reconstituted Complex
SLC9A3R1CLCN310759612471024 Reconstituted Complex
SLC9A3R1CLCN311476912471024 Reconstituted Complex
SLC9A3R1ABCC211476912615054 Reconstituted Complex
SLC9A3R1ABCC210764712615054 Reconstituted Complex
SLC9A3R1CTNNB111476912830000 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1CTNNB110788012830000 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1GNAQ10903812193606 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1GNAQ11476912193606 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1KCNJ111476914604981 Reconstituted Complex; Two-hybrid
SLC9A3R1KCNJ110996014604981 Reconstituted Complex; Two-hybrid
SLC9A3R1MSN1147699430655 Reconstituted Complex
SLC9A3R1MSN1105849430655 Reconstituted Complex
SLC9A3R1NF21147699430655 Reconstituted Complex
SLC9A3R1NF21108449430655 Reconstituted Complex
SLC9A3R1NOS211476912080081 Reconstituted Complex
SLC9A3R1NOS211090612080081 Reconstituted Complex
SLC9A3R1OPRK111476912004055 15070904 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1OPRK111103112004055 15070904 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1P2RY11110679671706 Reconstituted Complex
SLC9A3R1P2RY11147699671706 Reconstituted Complex
SLC9A3R1PDGFRA11476911046132 Affinity Capture-Western; Far Western; Reconstituted Complex
SLC9A3R1PDGFRA11118211046132 Affinity Capture-Western; Far Western; Reconstituted Complex
SLC9A3R1PDGFRB11118511046132 Affinity Capture-Western; Far Western; Reconstituted Complex
SLC9A3R1PDGFRB11476911046132 Affinity Capture-Western; Far Western; Reconstituted Complex
SLC9A3R1PDZK111120014531806 Reconstituted Complex; Two-hybrid
SLC9A3R1PDZK111476914531806 Reconstituted Complex; Two-hybrid
SLC9A3R1PIK3CA11476912954600 Reconstituted Complex
SLC9A3R1PIK3CA11130812954600 Reconstituted Complex
SLC9A3R1PTH1R11476912075354 Affinity Capture-Western; Far Western
SLC9A3R1PTH1R11171712075354 Affinity Capture-Western; Far Western
SLC9A3R1SCN4A1122349677412 Protein-peptide
SLC9A3R1SCN4A1147699677412 Protein-peptide
SLC9A3R1SLC9A311476914580213 Affinity Capture-Western
SLC9A3R1SLC9A311244014580213 Affinity Capture-Western
SLC9A3R1EZR1147699314537 11684085 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1EZR1132719314537 11684085 Affinity Capture-Western; Reconstituted Complex
SLC9A3R1YES111476910562288 Reconstituted Complex
SLC9A3R1YES111335710562288 Reconstituted Complex
YAP1SLC9A3R111476910562288 Affinity Capture-Western; Reconstituted Complex
YAP1SLC9A3R111568410562288 Affinity Capture-Western; Reconstituted Complex
PLCB1SLC9A3R111476910980202 Affinity Capture-Western
PLCB1SLC9A3R111684110980202 Affinity Capture-Western
SLC9A3R1SLC9A3R111476911046132 15070904 Far Western; Reconstituted Complex
TBC1D10ASLC9A3R111476911285285 Reconstituted Complex
TBC1D10ASLC9A3R112378711285285 Reconstituted Complex
PAG1SLC9A3R111476911684085 Affinity Capture-Western; Co-fractionation; Far Western; Two-hybrid
PAG1SLC9A3R112093111684085 Affinity Capture-Western; Co-fractionation; Far Western; Two-hybrid
GNB2L1SLC9A3R111476911956211 Affinity Capture-Western
GNB2L1SLC9A3R111567111956211 Affinity Capture-Western
SLC4A8SLC9A3R111476912403779 12444018 Reconstituted Complex
SLC4A8SLC9A3R111487712403779 12444018 Reconstituted Complex
PHLPP2SLC9A3R111476919615732 Affinity Capture-MS
PHLPP2SLC9A3R111667419615732 Affinity Capture-MS
Gene Symbol Interactant Interaction ID References Description
SLC9A3R1MSN548559430655 moesin interacts with hNHE-RF.
SLC9A3R1RDX548569430655 Radixin interacts with hNHE-RF. This interaction was modeled on a demonstrated interaction between chicken radixin and human hNHE-RF.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1349482
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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