SLC9A1
Sodium/hydrogen exchanger 1
Also known as: APNH, NHE-1, NHE1, PPP1R143, SL9A1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19634
- Gene
- SLC9A1
- Ensembl
- ENSG00000090020
- Chromosome
- 1
- Canonical length
- 815 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
815 residues, UniProt reviewed canonical sequence.
>P19634|SLC9A1
1 MVLRSGICGL SPHRIFPSLL VVVALVGLLP VLRSHGLQLS PTASTIRSSE PPRERSIGDV
61 TTAPPEVTPE SRPVNHSVTD HGMKPRKAFP VLGIDYTHVR TPFEISLWIL LACLMKIGFH
121 VIPTISSIVP ESCLLIVVGL LVGGLIKGVG ETPPFLQSDV FFLFLLPPII LDAGYFLPLR
181 QFTENLGTIL IFAVVGTLWN AFFLGGLMYA VCLVGGEQIN NIGLLDNLLF GSIISAVDPV
241 AVLAVFEEIH INELLHILVF GESLLNDAVT VVLYHLFEEF ANYEHVGIVD IFLGFLSFFV
301 VALGGVLVGV VYGVIAAFTS RFTSHIRVIE PLFVFLYSYM AYLSAELFHL SGIMALIASG
361 VVMRPYVEAN ISHKSHTTIK YFLKMWSSVS ETLIFIFLGV STVAGSHHWN WTFVISTLLF
421 CLIARVLGVL GLTWFINKFR IVKLTPKDQF IIAYGGLRGA IAFSLGYLLD KKHFPMCDLF
481 LTAIITVIFF TVFVQGMTIR PLVDLLAVKK KQETKRSINE EIHTQFLDHL LTGIEDICGH
541 YGHHHWKDKL NRFNKKYVKK CLIAGERSKE PQLIAFYHKM EMKQAIELVE SGGMGKIPSA
601 VSTVSMQNIH PKSLPSERIL PALSKDKEEE IRKILRNNLQ KTRQRLRSYN RHTLVADPYE
661 EAWNQMLLRR QKARQLEQKI NNYLTVPAHK LDSPTMSRAR IGSDPLAYEP KEDLPVITID
721 PASPQSPESV DLVNEELKGK VLGLSRDPAK VAEEDEDDDG GIMMRSKETS SPGTDDVFTP
781 APSDSPSSQR IQRCLSDPGP HPEPGEGEPF FPKGQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC9A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 13
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 72 nTPM
Expression across tissuesHPA
Tissue
- salivary gland: 72 nTPM
- stomach: 62 nTPM
- duodenum: 28 nTPM
- placenta: 21 nTPM
- parathyroid gland: 20 nTPM
- seminal vesicle: 18 nTPM
Single-cell type
- foveolar cells: 377 nCPM
- neutrophils: 313 nCPM
- epididymal basal cells: 179 nCPM
- salivary acinar cells: 170 nCPM
- syncytiotrophoblasts: 166 nCPM
- ocular epithelial cells: 164 nCPM
Immune cell
- neutrophil: 2 nTPM
- MAIT T-cell: 1.5 nTPM
- memory CD4 T-cell: 0.8 nTPM
- total PBMC: 0.8 nTPM
- gdT-cell: 0.7 nTPM
- memory CD8 T-cell: 0.7 nTPM
Brain region
- basal ganglia: 55 nTPM
- pons: 53 nTPM
- thalamus: 46 nTPM
- cerebral cortex: 46 nTPM
- amygdala: 37 nTPM
- medulla oblongata: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC9A1.
Disease | AllUniProt
Conditions SLC9A1 is implicated in, by any mechanism.
- Lichtenstein-Knorr syndrome (LIKNS) MIM:616291
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 271 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Lichtenstein-Knorr syndrome
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.38
- gnomAD pLI
- 0.79
- gnomAD missense Z
- 3.55
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle cell contraction
- cardiac muscle cell differentiation
- cell migration
- cellular response to acidic pH
- cellular response to antibiotic
- cellular response to cold
- cellular response to electrical stimulus
- cellular response to epinephrine stimulus
- cellular response to hypoxia
- cellular response to insulin stimulus
- cellular response to mechanical stimulus
- hyaluronan catabolic process
- intracellular sodium ion homeostasis
- maintenance of cell polarity
- monoatomic ion transport
- negative regulation of apoptotic process
- positive regulation of action potential
- positive regulation of apoptotic process
- positive regulation of calcineurin-NFAT signaling cascade
- positive regulation of cardiac muscle hypertrophy
- positive regulation of cell growth
- positive regulation of mitochondrial membrane permeability
- positive regulation of the force of heart contraction
- positive regulation of transcription by RNA polymerase II
- potassium ion transmembrane transport
- protein complex oligomerization
- proton transmembrane transport
- regulation of cardiac muscle cell membrane potential
- regulation of cardiac muscle contraction by calcium ion signaling
- regulation of focal adhesion assembly
- regulation of intracellular pH
- regulation of pH
- regulation of stress fiber assembly
- regulation of the force of heart contraction by cardiac conduction
- response to acidic pH
- response to muscle stretch
- sodium ion export across plasma membrane
- sodium ion import across plasma membrane
- stem cell differentiation
Molecular functions
- calcium ion binding
- calcium-dependent protein binding
- calmodulin binding
- identical protein binding
- molecular adaptor activity
- phosphatidylinositol-4,5-bisphosphate binding
- phospholipid binding
- potassium:proton antiporter activity
- protein phosphatase 2B binding
- protein-macromolecule adaptor activity
- sodium:proton antiporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC9A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC9A1 as an antibody target. Whether an autoantibody or antibody against SLC9A1 could matter depends on whether native SLC9A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC9A1 is annotated at the cell surface, where native SLC9A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC9A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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