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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC9A1
solute carrier family 9 member A1
Chromosome 1 Β· 1p36.11
NCBI Gene: 6548Ensembl: ENSG00000090020.12HGNC: HGNC:11071UniProt: B2RAH2
270PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to epinephrine stimuluspositive regulation of the force of heart contractionresponse to muscle stretchsodium ion import across plasma membraneLichtenstein-Knorr syndromegenetic disorderhemolytic anemiafibula fracture
✦AI Summary

SLC9A1 encodes the sodium/hydrogen exchanger 1 (NHE1), an electroneutral antiporter that extrudes intracellular sodium in exchange for extracellular protons in 1:1 stoichiometry, protecting cells from acidification caused by metabolic activity 1. The transporter maintains intracellular pH neutrality and cell volume, functions essential for cell growth, proliferation, migration, and survival 2. SLC9A1 also transports lithium and functions as a Na+/Li+ antiporter 3, while serving as a membrane anchoring scaffold for signaling complexes 4. Structurally, NHE1 comprises a 500-amino acid membrane domain forming 12 transmembrane segments and a 315-amino acid cytosolic regulatory tail; early stop codon mutations cause rapid protein degradation and loss of plasma membrane targeting and activity 5. Point mutations disrupting the cation binding site abolish exchanger activity despite normal surface targeting 6. Diseased states include Lichtenstein-Knorr syndrome 7. SLC9A1 dysregulation occurs in acute myeloid leukemia, where miR-12462-mediated downregulation associates with increased chemotherapy sensitivity 8. In breast cancer, SLC9A1 upregulation promotes proliferation and migration through sodium homeostasis dysregulation and is an independent prognostic biomarker 9. Recent work demonstrates that empagliflozin's cardioprotective effects in heart failure operate through NHE1-NO pathway inhibition independent of SGLT2 10.

Sources cited
1
SLC9A1 encodes Na+/H+ antiporter that extrudes sodium and protects cells from acidification
PMID: 11350981
2
SLC9A1 maintains intracellular pH and cell volume, essential for cell growth, proliferation, migration, and survival
PMID: 12947095
3
SLC9A1 functions as Na+/Li+ antiporter transporting lithium
PMID: 7603840
4
SLC9A1 anchors and organizes signaling scaffolding complexes
PMID: 15096511
5
Early stop codon mutations in SLC9A1 cause protein degradation and loss of activity and membrane targeting
PMID: 27636896
6
N266H mutation in SLC9A1 disrupts cation binding site and abolishes exchanger activity
PMID: 25760855
7
SLC9A1 mutations are associated with Lichtenstein-Knorr syndrome
PMID: 30237576
8
miR-12462-mediated SLC9A1 downregulation in AML increases chemotherapy sensitivity
PMID: 32703317
9
SLC9A1 is upregulated oncogene in breast cancer promoting proliferation and migration
PMID: 41235237
10
Empagliflozin protects heart from failure through NHE1-NO pathway inhibition independent of SGLT2
PMID: 39046464
Disease Associationsβ“˜21
Lichtenstein-Knorr syndromeOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.30Weak
hemolytic anemiaOpen Targets
0.16Weak
fibula fractureOpen Targets
0.13Weak
tibia fractureOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
mixed connective tissue diseaseOpen Targets
0.11Weak
gliomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.10Suggestive
azoospermiaOpen Targets
0.09Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.08Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.08Suggestive
generalised epilepsyOpen Targets
0.08Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
temporal lobe epilepsyOpen Targets
0.08Suggestive
genetic developmental and epileptic encephalopathyOpen Targets
0.08Suggestive
HyperglycemiaOpen Targets
0.08Suggestive
familial infantile myoclonic epilepsyOpen Targets
0.08Suggestive
Lichtenstein-Knorr syndromeUniProt
Pathogenic Variants6
NM_003047.5(SLC9A1):c.961C>T (p.Arg321Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 321
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg)Likely pathogenic
Lichtenstein-Knorr syndrome|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 305
NM_003047.5(SLC9A1):c.529del (p.Leu177fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 177
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)Likely pathogenic
Lichtenstein-Knorr syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 352
NM_003047.5(SLC9A1):c.1351A>C (p.Ile451Leu)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2015β†’ Residue 451
NM_003047.5(SLC9A1):c.862del (p.Ile288fs)Pathogenic
Lichtenstein-Knorr syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 288
View on ClinVar β†—
Related Genes
MSNProtein interaction100%CHP1Protein interaction100%MAPK3Protein interaction99%RDXProtein interaction99%AKT1Protein interaction99%TESCProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Heart
90%
Bone Marrow
68%
Brain
59%
Ovary
50%
Liver
21%
Gene Interaction Network
Click a node to explore
SLC9A1MSNCHP1MAPK3RDXAKT1TESC
PROTEIN STRUCTURE
Preparing viewer…
PDB6NUC Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.33 [0.24–0.47]
RankingsWhere SLC9A1 stands among ~20K protein-coding genes
  • #1,367of 20,598
    Most Researched270 Β· top 10%
  • #3,299of 5,498
    Most Pathogenic Variants6
  • #2,723of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedSLC9A1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Autozygome and high throughput confirmation of disease genes candidacy.
PMID: 30237576
Genet Med Β· 2019
1.00
2
Identifying prognostic biomarkers and immune interactions in ovarian cancer associated with perfluorooctanoic acid exposure: Insights from comparative toxicogenomics and molecular docking studies.
PMID: 39955862
Ecotoxicol Environ Saf Β· 2025
0.90
3
Empagliflozin prevents heart failure through inhibition of the NHE1-NO pathway, independent of SGLT2.
PMID: 39046464
Basic Res Cardiol Β· 2024
0.80
4
Roles of hsa-miR-12462 and SLC9A1 in acute myeloid leukemia.
PMID: 32703317
J Hematol Oncol Β· 2020
0.70
5
Empagliflozin inhibits increased Na influx in atrial cardiomyocytes of patients with HFpEF.
PMID: 38728438
Cardiovasc Res Β· 2024
0.68