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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 integ... See more...
Aliases for SLC9A3R1 Gene
Aliases for SLC9A3R1 Gene
- SLC9A3 Regulator 1 2 3 5
- NHERF1 2 3 4
- EBP50 2 3 4
- NHERF 2 3 4
- Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 1 2 3
- Na(+)/H(+) Exchange Regulatory Cofactor NHE-RF1 3 4
- Regulatory Cofactor Of Na(+)/H(+) Exchanger 3 4
- NHERF-1 3 4
- Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1 2
- Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 2
- Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 2
- Solute Carrier Family 9 Isoform A3 Regulatory Factor 1 4
- Ezrin-Radixin-Moesin Binding Phosphoprotein-50 3
- Ezrin-Radixin-Moesin-Binding Phosphoprotein 50 4
- Sodium-Hydrogen Exchanger Regulatory Factor 1 4
- Na+/H+ Exchange Regulatory Co-Factor 3
- SLC9A3R1 5
- NPHLOP2 3
External Ids for SLC9A3R1 Gene
- HGNC: 11075
- NCBI Entrez Gene: 9368
- Ensembl: ENSG00000109062
- OMIM®: 604990
- UniProtKB/Swiss-Prot: O14745
Previous GeneCards Identifiers for SLC9A3R1 Gene
- GC17P072760
- GC17P075802
- GC17P073208
- GC17P073341
- GC17P070256
- GC17P068155
- GC17P072744
Summaries for SLC9A3R1 Gene
-
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]
GeneCards Summary for SLC9A3R1 Gene
SLC9A3R1 (SLC9A3 Regulator 1) is a Protein Coding gene. Diseases associated with SLC9A3R1 include Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 and Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and PDGFR-beta signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is SLC9A3R2.
UniProtKB/Swiss-Prot Summary for SLC9A3R1 Gene
-
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 and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.
Additional gene information for SLC9A3R1 Gene
- HGNC (11075)
- NCBI Entrez Gene (9368)
- Ensembl (ENSG00000109062)
- OMIM® (604990)
- UniProtKB/Swiss-Prot (O14745)
- Open Targets Platform(ENSG00000109062)
- Monarch Initiative
- Search for SLC9A3R1 at DataMed
- Search for SLC9A3R1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A3R1 Gene
Genomics for SLC9A3R1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC9A3R1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC9A3R1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A3R1
- Top Transcription factor binding sites by QIAGEN in the SLC9A3R1 gene promoter:
-
- CBF-A
- CBF-B
- E47
- GATA-3
- HNF-4alpha1
- NF-kappaB1
- Nkx2-5
- POU2F1
- POU2F1a
- Tal-1beta
Genomic Locations for SLC9A3R1 Gene
Latest Assembly
- chr17:74,748,628-74,769,353
- (GRCh38/hg38)
- Size:
- 20,726 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:72,744,767-72,765,492
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 20,726 bases
- Orientation:
- Plus strand
- chr17:72,744,791-72,765,492
- (GRCh37/hg19 by Ensembl)
- Size:
- 20,702 bases
- Orientation:
- Plus strand
Genomic View for SLC9A3R1 Gene
Genes around SLC9A3R1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
SLC9A3R1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC9A3R1 Gene
Proteins for SLC9A3R1 Gene
-
Protein details for SLC9A3R1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14745-NHRF1_HUMAN
- Recommended name:
- Na(+)/H(+) exchange regulatory cofactor NHE-RF1
- Protein Accession:
- O14745
- B3KY21
- O43552
- Q86WQ5
Protein attributes for SLC9A3R1 Gene
- Size:
- 358 amino acids
- Molecular mass:
- 38868 Da
- Quaternary structure:
-
- Homodimer, and heterodimer with SLC9A3R2. Binds the N-termini of EZR, RDX and MSN. Binds the C-termini of PDGFRA, PDGFRB, ADRB2, NOS2 and CFTR. Binds ARHGAP17, EPI64, RACK1, OPRK1, GNAQ, CTNNB1 and PLCB3. Binds PDZK1 (By similarity). Interacts with CLCN3. Binds the C-terminus of PAG1. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Forms a complex with CFTR and SLC4A7. Forms a complex with SLC4A7 and ATP6V1B1. Interacts with TRPC4 (via the PDZ-binding domain). Directly interacts with HTR4 (By similarity). Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); interaction is not detected in glomerular epithelium cells. Interacts (via the PDZ 1 domain) with PODXL (via the C-terminal PDZ-binding motif DTHL); the interaction take place early in the secretory pathway and is necessary for its apical membrane sorting (By similarity). Interacts with SLC26A3 (By similarity). Interacts with MCC. Interacts with SLC34A1. Interacts (via the PDZ domains) with SLC26A6 isoform 4 and isoform 5.
- SequenceCaution:
-
- Sequence=AAH49220.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for SLC9A3R1 Gene
Protein Expression for SLC9A3R1 Gene
Post-translational modifications for SLC9A3R1 Gene
- Phosphorylated on serine residues.
-
Ubiquitination at Lys351
- NX_O14745 (NX_O14745-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SLC9A3R1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ SLC9A3R1 Antibody
- GeneTex Anti-NHERF1 antibody and Anti-NHERF1 antibody [JJ0946]
-
Custom Antibody ServicesOriGene Antibodies for SLC9A3R1
- Novus Biologicals Antibodies for SLC9A3R1
- Invitrogen Antibodies for SLC9A3R1 (AFLGC-SLC9A3R1)
- antibodies-online: Show 32 available SLC9A3R1 Antibodies ranked by validation data
- Compare Top SLC9A3R1 Antibodies
-
Recommended
- 91 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 23 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 21 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
-
Custom Antibody ServicesProSci Antibodies for SLC9A3R1
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [13-051]
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [49-112]
- Na(+)/H(+) exchange regulatory cofactor NHE-RF1 [62-072]
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [XW-7871]
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC9A3R1
- Sino Biological Antibodies for SLC9A3R1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC9A3R1
- Origene Custom Protein Services for SLC9A3R1
-
Abcam proteins for SLC9A3R1
Assay products for research
No data available for DME Specific Peptides for SLC9A3R1 Gene
Domains & Families for SLC9A3R1 Gene
Gene Families for SLC9A3R1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for SLC9A3R1 Gene
- InterPro:
- Blocks:
-
- PDZ/DHR/GLGF domain
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC9A3R1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ46618 fis, clone TLIVE2007736, highly similar to Ezrin-radixin-moesin-binding phosphoprotein 50 (B3KY21_HUMAN)
- Solute carrier family 9 isoform A3 regulatory factor 1 (NHRF1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SLC9A3R1 Gene
Function for SLC9A3R1 Gene
Molecular function for SLC9A3R1 Gene
- UniProtKB/Swiss-Prot Function:
- 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 and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa.
- UniProtKB/Swiss-Prot Induction:
- By estrogen.
- GENATLAS Biochemistry:
- solute carrier family 9 (sodium/hydrogen exchanger) isoform 3,regulatory factor 1,ezrin-radixin-myosin (ERM) binding phosphoprotein,widely expressed,principally in polarized epithelia,colocolizing with actin ezrin in apical microvilli of epithelial cells and of placental syncytiotrophoblast
Phenotypes From GWAS Catalog for SLC9A3R1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IPI | 16456542 |
| GO:0005515 | protein binding | IPI | 9430655 |
| GO:0008013 | beta-catenin binding | IPI | 17242191 |
| GO:0015185 | contributes_to gamma-aminobutyric acid transmembrane transporter activity | ISS | -- |
| GO:0017081 | chloride channel regulator activity | IDA | 12881487 |
Phenotypes for SLC9A3R1 Gene
- MGI mutant phenotypes for SLC9A3R1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SLC9A3R1:
Animal Models for SLC9A3R1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC9A3R1 - Starting at $85 >
- * SLC9A3R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC9A3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC9A3R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC9A3R1
miRNA for SLC9A3R1 Gene
- miRTarBase miRNAs that target SLC9A3R1
-
- dre-miR-1 (MIRT004555)
- hsa-miR-335-5p (MIRT018193)
- hsa-let-7b-5p (MIRT032319)
- hsa-miR-877-3p (MIRT036977)
- hsa-miR-423-5p (MIRT038082)
- hsa-miR-1249-5p (MIRT736467)
- hsa-miR-1321 (MIRT737369)
- hsa-miR-1827 (MIRT738149)
- hsa-miR-1910-3p (MIRT738439)
- hsa-miR-3150b-3p (MIRT740333)
- hsa-miR-3612 (MIRT741606)
- hsa-miR-4276 (MIRT743674)
- hsa-miR-4419a (MIRT744207)
- hsa-miR-4510 (MIRT745647)
- hsa-miR-4689 (MIRT747045)
- hsa-miR-4739 (MIRT748086)
- hsa-miR-4756-5p (MIRT748458)
- hsa-miR-4779 (MIRT748767)
- hsa-miR-4784 (MIRT748850)
- hsa-miR-5007-5p (MIRT749432)
- hsa-miR-5190 (MIRT749923)
- hsa-miR-6127 (MIRT752121)
- hsa-miR-6129 (MIRT752194)
- hsa-miR-6130 (MIRT752282)
- hsa-miR-6133 (MIRT752386)
- hsa-miR-650 (MIRT753054)
- hsa-miR-6511a-5p (MIRT753164)
- hsa-miR-6797-5p (MIRT756227)
- hsa-miR-6858-5p (MIRT757803)
- hsa-miR-765 (MIRT759590)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC9A3R1
- Browse OriGene Inhibitory RNA Products For SLC9A3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A3R1
Clone products for research
- Applied Biological Materials (abm): Clones for SLC9A3R1 - Starting at $45 >
- * SLC9A3R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC9A3R1
- Addgene plasmids for SLC9A3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC9A3R1
Cell Lines for research
-
Horizon Cell Lines for SLC9A3R1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC9A3R1 Gene
Localization for SLC9A3R1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC9A3R1 Gene
- Cytoplasm. Apical cell membrane. Endomembrane system. Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| extracellular | 4 |
| nucleus | 3 |
| cytosol | 3 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
- Centriolar satellite (2)
- Plasma membrane (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | IEA | -- |
| GO:0005634 | NOT nucleus | IDA | 17895247 |
| GO:0005737 | cytoplasm | IEA,IDA | 17895247 |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005902 | microvillus | IEA,IDA | 17242191 |
Pathways & Interactions for SLC9A3R1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of CFTR activity (norm and CF) |
Regulation of CFTR activity (norm and CF)
.38
|
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
.38
|
| 2 | Neuroscience | ||
| 3 | Tyrosine Kinases / Adaptors | ||
| 4 | PI3K-Akt signaling pathway | ||
| 5 | Parathyroid hormone synthesis, secretion and action | ||
Pathways by source for SLC9A3R1 Gene
2 BioSystems pathways for SLC9A3R1 Gene
1 PharmGKB pathway for SLC9A3R1 Gene
4 KEGG pathways for SLC9A3R1 Gene
4 GeneGo (Thomson Reuters) pathways for SLC9A3R1 Gene
- CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
- Regulation of CFTR activity (norm and CF)
- wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
- wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
2 Cell Signaling Technology pathways for SLC9A3R1 Gene
Interacting Proteins for SLC9A3R1 Gene
Selected Interacting proteins:
O14745-NHRF1_HUMAN
ENSP00000262613
for SLC9A3R1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SLC9A3R1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002009 | morphogenesis of an epithelium | NAS | 25775275 |
| GO:0003096 | renal sodium ion transport | IEA | -- |
| GO:0007009 | plasma membrane organization | ISS | 25775275 |
| GO:0007097 | nuclear migration | IMP | 24862762 |
| GO:0007191 | adenylate cyclase-activating dopamine receptor signaling pathway | IEA | -- |
Drugs & Compounds for SLC9A3R1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cyclic amp | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SLC9A3R1 Gene
mRNA/cDNA for SLC9A3R1 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262613 1993 nts (view in UCSC)
- ENST00000413388 1285 nts (view in UCSC)
- ENST00000578958 714 nts (view in UCSC)
- ENST00000581356 519 nts (view in UCSC)
- ENST00000583369 841 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SLC9A3R1 - Starting at $85 >
- * SLC9A3R1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SLC9A3R1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC9A3R1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC9A3R1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC9A3R1
- Browse OriGene Inhibitory RNA Products For SLC9A3R1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A3R1
Clone products for research
- Applied Biological Materials (abm): Clones for SLC9A3R1 - Starting at $45 >
- * SLC9A3R1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SLC9A3R1
- Addgene plasmids for SLC9A3R1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC9A3R1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: | - |
Relevant External Links for SLC9A3R1 Gene
- GeneLoc Exon Structure for
- SLC9A3R1
Expression for SLC9A3R1 Gene
mRNA differential expression in normal tissues according to GTEx for SLC9A3R1 Gene
This gene is overexpressed in Esophagus - Mucosa (x5.6), Whole Blood (x5.1), Liver (x4.5), and Kidney - Cortex (x4.0).
This gene is overexpressed in Nasal epithelium (8.0) and Peripheral blood mononuclear cells (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC9A3R1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A3R1
SOURCE GeneReport for Unigene cluster for SLC9A3R1 Gene:
Hs.724482mRNA Expression by UniProt/SwissProt for SLC9A3R1 Gene:
O14745-NHRF1_HUMAN
Tissue specificity:
Detected in liver, kidney, pancreas, prostate, spleen, small intestine and placenta, in particular in the syncytiotrophoblast.
Evidence on tissue expression from TISSUES for SLC9A3R1 Gene
- Nervous system(5)
- Blood(4.8)
- Pancreas(4.8)
- Liver(4.7)
- Intestine(4.5)
- Kidney(4.3)
- Lung(3.9)
- Eye(3.9)
- Skin(3.1)
- Lymph node(2.5)
- Heart(2.5)
- Bone marrow(2.4)
- Spleen(2.4)
- Gall bladder(2.4)
- Stomach(2.4)
- Muscle(2.2)
- Adrenal gland(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A3R1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- diaphragm
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
- ureter
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- red blood cell
- spinal column
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for SLC9A3R1
-
OriGene qPCR primer pairs and template standards for SLC9A3R1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC9A3R1 Gene
Orthologs for SLC9A3R1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC9A3R1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Slc9a3r1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc9a3r1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SLC9A3R1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC9A3R1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC9A3R1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SLC9A3R1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc9a3r1 30 |
|
||
| Str.1984 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100329719 30 |
|
||
| SLC9A3R1 (2 of 2) 31 |
|
OneToMany | |||
| slc9a3r1 31 |
|
OneToMany | |||
| Dr.17541 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sip1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8280 31 |
|
OneToMany |
- Species where no ortholog for SLC9A3R1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for SLC9A3R1 Gene
- ENSEMBL:
- Gene Tree for SLC9A3R1 (if available)
- TreeFam:
- Gene Tree for SLC9A3R1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC9A3R1: view image
Paralogs for SLC9A3R1 Gene
Variants for SLC9A3R1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A3R1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835074 | Uncertain Significance: not provided | 74,768,238(+) |
T/C NM_004252.5(SLC9A3R1):c.888+2T>C |
SPLICE_DONOR | |
| 959800 | Uncertain Significance: not provided | 74,762,039(+) |
A/C NM_004252.5(SLC9A3R1):c.469A>C (p.Met157Leu) |
MISSENSE | |
| rs119486097 | Likely Benign: Nephrolithiasis; Hypophosphatemia; Nephrolithiasis/osteoporosis, hypophosphatemic, 2; not specified. Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] | 74,763,436(+) |
G/Ap.Glu225Lys NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) |
MISSENSE | |
| rs139622189 | Uncertain Significance: not provided. Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] | 74,749,049(+) |
A/Cp.Glu68Ala NM_004252.5(SLC9A3R1):c.203A>C (p.Glu68Ala) |
MISSENSE | |
| rs147104235 | Uncertain Significance: Nephrolithiasis/osteoporosis, hypophosphatemic, 2; not provided | 74,763,420(+) |
C/G NM_004252.5(SLC9A3R1):c.657C>G (p.Ile219Met) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.48;
43.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC9A3R1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A3R1 Gene
Disorders for SLC9A3R1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
|
|
| dominant hypophosphatemia with nephrolithiasis or osteoporosis |
|
|
| hypophosphatemia |
|
|
| nephrolithiasis |
|
|
| nephrolithiasis, calcium oxalate |
|
|
Search SLC9A3R1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NHRF1_HUMAN- Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287]: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. {ECO:0000269 PubMed:18784102, ECO:0000269 PubMed:22506049}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for SLC9A3R1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SLC9A3R1 Gene
Publications for SLC9A3R1 Gene
- NHERF1 mutations and responsiveness of renal parathyroid hormone. (PMID: 18784102) Karim Z … Prié D (The New England journal of medicine 2008) 3 4 23 74
- NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins. (PMID: 9430655) Murthy A … Ramesh V (The Journal of biological chemistry 1998) 2 3 4 23
- Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family. (PMID: 9314537) Reczek D … Bretscher A (The Journal of cell biology 1997) 2 3 4 23
- Structural basis for NHERF recognition by ERM proteins. (PMID: 16615918) Terawaki S … Hakoshima T (Structure (London, England : 1993) 2006) 3 4 23
- The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. (PMID: 12471024) Gentzsch M … Riordan JR (The Journal of biological chemistry 2003) 3 4 23
ExternalLinks
Products for SLC9A3R1 Gene
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- antibodies-online: Show 32 available SLC9A3R1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for SLC9A3R1
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- Custom Antibody ServicesProSci Antibodies for SLC9A3R1
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [13-051]
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [49-112]
- Na(+)/H(+) exchange regulatory cofactor NHE-RF1 [62-072]
- solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 [XW-7871]
- Search for SLC9A3R1 Proteins at ProSci
- Horizon Cell Lines for SLC9A3R1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC9A3R1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A3R1
Sources for SLC9A3R1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
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- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
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- (84) COMPARTMENTS
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- (149) LncRNADisease
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- (152) DiseaseEnhancer
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- (154) Biorbyt
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- (156) Mastermind
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- (158) CraniofacialAtlas
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