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Aliases for SLC9A1 Gene

Aliases for SLC9A1 Gene

  • Solute Carrier Family 9 Member A1 2 3 5
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 1 (Antiporter, Na+/H+, Amiloride Sensitive) 2 3
  • Solute Carrier Family 9, Subfamily A (NHE1, Cation Proton Antiporter 1), Member 1 2 3
  • Protein Phosphatase 1, Regulatory Subunit 143 2 3
  • Na(+)/H(+) Exchanger 1 3 4
  • NHE-1 3 4
  • APNH 3 4
  • NHE1 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 1 (Antiporter, Na+/H+, Amiloride Sensitive) 3
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 1 2
  • Na(+)/H(+) Antiporter, Amiloride-Sensitive 4
  • Solute Carrier Family 9 Member 1 4
  • Sodium/Hydrogen Exchanger 1 3
  • Na-Li Countertransporter 3
  • PPP1R143 3
  • LIKNS 3
  • APNH1 4

External Ids for SLC9A1 Gene

Previous HGNC Symbols for SLC9A1 Gene

  • APNH
  • NHE1

Previous GeneCards Identifiers for SLC9A1 Gene

  • GC01P028110
  • GC01M026457
  • GC01M026658
  • GC01M027029
  • GC01M027297
  • GC01M027425
  • GC01M025679

Summaries for SLC9A1 Gene

Entrez Gene Summary for SLC9A1 Gene

  • This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]

GeneCards Summary for SLC9A1 Gene

SLC9A1 (Solute Carrier Family 9 Member A1) is a Protein Coding gene. Diseases associated with SLC9A1 include Lichtenstein-Knorr Syndrome and Myocardial Stunning. Among its related pathways are Salivary secretion and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calcium-dependent protein binding. An important paralog of this gene is SLC9A2.

UniProtKB/Swiss-Prot for SLC9A1 Gene

  • Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction.

Tocris Summary for SLC9A1 Gene

Gene Wiki entry for SLC9A1 Gene

Additional gene information for SLC9A1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A1 Gene

Genomics for SLC9A1 Gene

GeneHancer (GH) Regulatory Elements for SLC9A1 Gene

Promoters and enhancers for SLC9A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I027151 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.6 +12.9 12935 4.8 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC SLC9A1 ARID1A ACTG1P20 FAM76A HMGN2 GPN2 ENSG00000231344 EYA3 LOC101928324 LOC101928728
GH01I027166 Enhancer 0.8 ENCODE 557.8 +0.1 146 1.5 HDAC1 ZNF335 SCRT2 FOS ATF7 ZNF398 ZEB2 MTA1 SMARCA4 IKZF1 SLC9A1 LOC102723760
GH01I027135 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +29.4 29378 4.1 HDAC1 HDGF PKNOX1 ATF1 KLF17 SIN3A ZBTB40 ZNF766 SCRT2 ZNF143 ZDHHC18 WDTC1 LOC105376890 SLC9A1 TMEM222 RNU6-48P ACTG1P20 GPATCH3 NUDC FGR
GH01I027140 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.6 +23.3 23342 6.8 PKNOX1 SIN3A ZNF280A FOS ATF7 REST ZNF592 GMEB1 SMARCA4 GLIS1 WDTC1 LOC105376890 TMEM222 ACTG1P20 RNU6-48P GPATCH3 NUDC SLC9A1 LOC102723760 GC01P027051
GH01I027098 Enhancer 1.4 Ensembl ENCODE dbSUPER 6.6 +67.1 67090 3.6 HDGF PKNOX1 ATF1 SMAD1 ARNT FEZF1 ZNF2 TCF12 GLIS2 E2F8 SLC9A1 GC01P027051 LOC102723760
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC9A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC9A1 gene promoter:

Genomic Locations for SLC9A1 Gene

Genomic Locations for SLC9A1 Gene
68,173 bases
Minus strand

Genomic View for SLC9A1 Gene

Genes around SLC9A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A1 Gene

Proteins for SLC9A1 Gene

  • Protein details for SLC9A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium/hydrogen exchanger 1
    Protein Accession:
    Secondary Accessions:
    • B1ALD6
    • D3DPL4
    • Q96EM2

    Protein attributes for SLC9A1 Gene

    815 amino acids
    Molecular mass:
    90763 Da
    Quaternary structure:
    • Oligomer (By similarity). Interacts with calmodulin and TESC. Interacts (via the juxtamembrane region of the cytoplasmic C-terminal domain) with CHP1; the interaction occurs at the plasma membrane in a calcium-dependent manner. Interacts with CHP2; the interaction occurs in a calcium-dependent manner.
    • Inhibited by amiloride and 5-amino-substituted derivatives and activated in a cooperative fashion by intracellular H(+). In quiescent cells upon growth factor stimulation, the apparent affinity for internal H(+) is increased, resulting in a persistent rise in cytoplasmic pH.

    Three dimensional structures from OCA and Proteopedia for SLC9A1 Gene

    Alternative splice isoforms for SLC9A1 Gene


neXtProt entry for SLC9A1 Gene

Post-translational modifications for SLC9A1 Gene

Other Protein References for SLC9A1 Gene

No data available for DME Specific Peptides for SLC9A1 Gene

Domains & Families for SLC9A1 Gene

Gene Families for SLC9A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for SLC9A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9A1: view

Function for SLC9A1 Gene

Molecular function for SLC9A1 Gene

GENATLAS Biochemistry:
solute carrier protein family 9 (sodium/hydrogen exchange),member 1,involved in intracellular pH regulation and cell volume,isoform 1,basolateral membrane location in polarized cells (amiloride sensitive),ubiquitous,homolog to mouse Npe1,mutated in slow-wawe epilepsy
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Fully active at acidic pHs, the antiporter is virtually turned off at neutral pH.;
UniProtKB/Swiss-Prot Function:
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction.

Phenotypes From GWAS Catalog for SLC9A1 Gene

Gene Ontology (GO) - Molecular Function for SLC9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8901634
GO:0005516 calmodulin binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding TAS 17565280
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity TAS,IEA 2536298
genes like me logo Genes that share ontologies with SLC9A1: view
genes like me logo Genes that share phenotypes with SLC9A1: view

Human Phenotype Ontology for SLC9A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC9A1 Gene

MGI Knock Outs for SLC9A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC9A1 Gene

Localization for SLC9A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A1 Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Colocalizes with CHP1 at the reticulum endoplasmic (By similarity). Colocalizes with CHP1 and CHP2 at the plasma membrane. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
mitochondrion 3
cytoskeleton 2
cytosol 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 21553168
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with SLC9A1: view

Pathways & Interactions for SLC9A1 Gene

genes like me logo Genes that share pathways with SLC9A1: view

SIGNOR curated interactions for SLC9A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SLC9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IDA 24840010
genes like me logo Genes that share ontologies with SLC9A1: view

Drugs & Compounds for SLC9A1 Gene

(36) Drugs for SLC9A1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, Target, inhibitor 55
Homoserine Lactone Experimental Pharma Target 0
Cariporide Pharma Potent NHE inhibitor 0
BCH Pharma LAT1 inhibitor 0
N2-Methyl-L-arginine Pharma Lysosomal system c L-arginine uptake inhibitor 0

(27) Additional Compounds for SLC9A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Sodium
  • Sodium ion

(3) Tocris Compounds for SLC9A1 Gene

Compound Action Cas Number
BCH LAT1 inhibitor 20448-79-7
N2-Methyl-L-arginine Lysosomal system c L-arginine uptake inhibitor 2480-28-6
Phlorizin Na+-glucose cotransporter (SGLT) inhibitor 60-81-1

(1) ApexBio Compounds for SLC9A1 Gene

Compound Action Cas Number
CARIPORIDE Potent NHE inhibitor 159138-80-4
genes like me logo Genes that share compounds with SLC9A1: view

Drug Products

Transcripts for SLC9A1 Gene

Unigene Clusters for SLC9A1 Gene

Solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - -
SP2: -
SP4: - - -
SP5: - - - - - -
SP7: -
SP8: - - - - - -

ExUns: 16b ^ 17a · 17b

Relevant External Links for SLC9A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC9A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC9A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC9A1 Gene

This gene is overexpressed in Skin (19.1) and Salivary gland (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC9A1 Gene

Protein tissue co-expression partners for SLC9A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9A1 Gene:


SOURCE GeneReport for Unigene cluster for SLC9A1 Gene:


mRNA Expression by UniProt/SwissProt for SLC9A1 Gene:

Tissue specificity: Kidney and intestine.

Evidence on tissue expression from TISSUES for SLC9A1 Gene

  • Heart(4.8)
  • Kidney(4.5)
  • Blood(4.4)
  • Nervous system(4.4)
  • Liver(4.3)
  • Muscle(2.9)
  • Intestine(2.5)
  • Stomach(2.5)
  • Eye(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • head
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC9A1: view

No data available for mRNA differential expression in normal tissues for SLC9A1 Gene

Orthologs for SLC9A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia NHE1 34
  • 96 (a)
SLC9A1 33
  • 92.07 (n)
(Pan troglodytes)
Mammalia SLC9A1 33
  • 94.62 (n)
(Bos Taurus)
Mammalia SLC9A1 33 34
  • 91.7 (n)
(Rattus norvegicus)
Mammalia Slc9a1 33
  • 90.14 (n)
(Mus musculus)
Mammalia Slc9a1 33 16 34
  • 89.67 (n)
(Ornithorhynchus anatinus)
Mammalia SLC9A1 34
  • 84 (a)
(Monodelphis domestica)
Mammalia SLC9A1 34
  • 81 (a)
(Gallus gallus)
Aves NHE1 34
  • 86 (a)
SLC9A1 33
  • 80.83 (n)
(Anolis carolinensis)
Reptilia SLC9A1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a1 33
  • 74.88 (n)
Str.7259 33
African clawed frog
(Xenopus laevis)
Amphibia NHE 33
(Danio rerio)
Actinopterygii slc9a1 33
  • 71.21 (n)
SLC9A1 34
  • 69 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11910 33
fruit fly
(Drosophila melanogaster)
Insecta Nhe2 34
  • 24 (a)
(Caenorhabditis elegans)
Secernentea nhx-2 35 34
  • 41 (a)
nhx-9 35 34
  • 40 (a)
nhx-1 34
  • 40 (a)
nhx-3 35 34
  • 39 (a)
nhx-6 35 34
  • 39 (a)
nhx-7 35
  • 34 (a)
Species where no ortholog for SLC9A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for SLC9A1 Gene

Gene Tree for SLC9A1 (if available)
Gene Tree for SLC9A1 (if available)

Paralogs for SLC9A1 Gene

Paralogs for SLC9A1 Gene

(6) SIMAP similar genes for SLC9A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC9A1: view

Variants for SLC9A1 Gene

Sequence variations from dbSNP and Humsavar for SLC9A1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs786204831 pathogenic, Lichtenstein-knorr syndrome, Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291] 27,109,678(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs797044991 uncertain-significance, not provided 27,105,979(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000001371 -- 27,141,136(-) A/T intron_variant
rs1000085970 -- 27,123,585(-) A/T intron_variant
rs1000100906 -- 27,102,930(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC9A1 Gene

Variant ID Type Subtype PubMed ID
esv2659298 CNV deletion 23128226
esv28309 CNV loss 19812545
esv3336032 CNV duplication 20981092
esv3585552 CNV loss 21293372
nsv1000012 CNV gain 25217958
nsv509058 CNV insertion 20534489
nsv834535 CNV gain+loss 17160897

Variation tolerance for SLC9A1 Gene

Residual Variation Intolerance Score: 9.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A1 Gene

Disorders for SLC9A1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC9A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Lichtenstein-Knorr syndrome (LIKNS) [MIM:616291]: An autosomal recessive neurologic disorder characterized by progressive cerebellar ataxia and severe progressive sensorineural hearing loss. {ECO:0000269 PubMed:25205112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC9A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC9A1: view

No data available for Genatlas for SLC9A1 Gene

Publications for SLC9A1 Gene

  1. Cloning and analysis of the human myocardial Na+/H+ exchanger. (PMID: 8283968) Fliegel L … Haworth RS (Molecular and cellular biochemistry 1993) 2 3 4 22 58
  2. Solution structure of the cytoplasmic region of Na+/H+ exchanger 1 complexed with essential cofactor calcineurin B homologous protein 1. (PMID: 17050540) Mishima M … Kojima C (The Journal of biological chemistry 2007) 3 4 22 58
  3. Structural and functional characterization of transmembrane segment IV of the NHE1 isoform of the Na+/H+ exchanger. (PMID: 15677483) Slepkov ER … Fliegel L (The Journal of biological chemistry 2005) 3 4 22 58
  4. Proline residues in transmembrane segment IV are critical for activity, expression and targeting of the Na+/H+ exchanger isoform 1. (PMID: 14680478) Slepkov ER … Fliegel L (The Biochemical journal 2004) 3 4 22 58
  5. Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements. (PMID: 15035633) Pang T … Wakabayashi S (Biochemistry 2004) 3 4 22 58

Products for SLC9A1 Gene

Sources for SLC9A1 Gene

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