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] See more...

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
  • Sodium/Hydrogen Exchanger 1 3 4
  • Na(+)/H(+) Exchanger 1 3 4
  • PPP1R143 2 3
  • 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
  • Na-Li Countertransporter 3
  • SLC9A1 5
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ADP signalling through P2Y purinoceptor 12. 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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A1 Gene

Genomics for SLC9A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC9A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J027151 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.6 +12.9 12935 4.8 ARHGAP35 SP1 CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 TFE3 SLC9A1 ARID1A ACTG1P20 FAM76A HMGN2 GPN2 DHDDS-AS1 ENSG00000231344 EYA3 ENSG00000260063
GH01J027166 Enhancer 0.9 Ensembl ENCODE 607.7 +0.3 289 1.8 CREB1 ATF7 PRDM10 ZNF629 LEF1 IKZF1 JUND PRDM1 MTA2 MTA1 SLC9A1 MAP3K6 piR-50437-028 TENT5B
GH01J027165 Enhancer 0.4 Ensembl 607.9 +1.6 1580 0.4 SOX6 ZNF384 EGR2 CBFA2T3 SLC9A1 piR-50437-028 TENT5B
GH01J027135 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +29.4 29350 4 CTCF LEF1 IKZF1 JUND PRDM1 ZNF143 RELA ZIC2 PKNOX1 POLR2A ZDHHC18 WDTC1 ENSG00000224311 SLC9A1 TMEM222 ACTG1P20 RNU6-48P GPATCH3 NUDC FGR
GH01J027140 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 8.6 +23.3 23342 6.8 JUND FOXA1 PHF21A RFX1 PKNOX1 MTA1 ZNF24 HDAC1 ZNF600 EP300 WDTC1 ENSG00000224311 TMEM222 ACTG1P20 RNU6-48P GPATCH3 NUDC SLC9A1 LOC102723760 piR-35674-012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A1

Top Transcription factor binding sites by QIAGEN in the SLC9A1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • GR
  • p53
  • STAT1
  • STAT3

Genomic Locations for SLC9A1 Gene

Genomic Locations for SLC9A1 Gene
chr1:27,098,809-27,166,981
(GRCh38/hg38)
Size:
68,173 bases
Orientation:
Minus strand
chr1:27,425,300-27,493,472
(GRCh37/hg19)
Size:
68,173 bases
Orientation:
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:
    P19634-SL9A1_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 1
    Protein Accession:
    P19634
    Secondary Accessions:
    • B1ALD6
    • D3DPL4
    • Q96EM2

    Protein attributes for SLC9A1 Gene

    Size:
    815 amino acids
    Molecular mass:
    90763 Da
    Quaternary structure:
    • Oligomer (By similarity). Interacts with CALM1 in a calcium-dependent manner (PubMed:12809501, PubMed:30287853). Interacts with TESC (PubMed:11696366, PubMed:30287853, PubMed:12809501). 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 (PubMed:8967452, PubMed:8901634, PubMed:11350981, PubMed:15035633, PubMed:17050540). Interacts with CHP2; the interaction occurs in a calcium-dependent manner (PubMed:12226101, PubMed:16710297, PubMed:21392185).
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9A1 Gene

Post-translational modifications for SLC9A1 Gene

  • O-glycosylated.
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is reduced by CHP1 (By similarity).
  • Glycosylation at Thr42, Ser56, Thr61, Thr62, Thr68, and Asn75
  • Ubiquitination at Lys612
  • Modification sites at PhosphoSitePlus

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

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

Protein Domains for SLC9A1 Gene

InterPro:
Blocks:
  • Na+/H+ exchanger signature
  • Sodium/hydrogen exchanger
  • Na+/H+ exchanger isoform 1 (NHE1) signature
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9A1 Gene

GenScript: Design optimal peptide antigens:
  • Sodium/hydrogen exchanger (B4DTZ6_HUMAN)
  • Solute carrier family 9 member 1 (SL9A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19634

UniProtKB/Swiss-Prot:

SL9A1_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
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

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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Fully active at acidic pHs, the antiporter is virtually turned off at neutral pH.;
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

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 IEA,TAS 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A1

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

COMPARTMENTS
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
nucleus 5
extracellular 4
endoplasmic reticulum 4
mitochondrion 3
cytoskeleton 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 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:0005623 cell IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 21553168
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum ISS --
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

Pathways by source for SLC9A1 Gene

6 Qiagen pathways for SLC9A1 Gene
  • Aldosterone Signaling in Epithelial Cells
  • G12-G13 in Cellular Signaling
  • Intracellular Calcium Signaling
  • PDGF Pathway
  • Rho Family GTPases

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:0002026 regulation of the force of heart contraction 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

(38) 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 60
Memantine Approved, Investigational Pharma Channel blocker, Transporter 214
Homoserine Lactone Experimental Pharma Target 0
Cariporide Investigational Pharma Target Potent NHE inhibitor 0
BCH Pharma LAT1 inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(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

mRNA/cDNA for SLC9A1 Gene

1 REFSEQ mRNAs :
32 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A1

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: -
SP3:
SP4: - - -
SP5: - - - - - -
SP6:
SP7: -
SP8: - - - - - -
SP9:

ExUns: 16b ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SLC9A1 Gene

GeneLoc Exon Structure for
SLC9A1

Expression for SLC9A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SLC9A1 Gene



Protein tissue co-expression partners for SLC9A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A1

SOURCE GeneReport for Unigene cluster for SLC9A1 Gene:

Hs.91389

mRNA Expression by UniProt/SwissProt for SLC9A1 Gene:

P19634-SL9A1_HUMAN
Tissue specificity: Kidney and intestine.

Evidence on tissue expression from TISSUES for SLC9A1 Gene

  • Heart(4.8)
  • Kidney(4.6)
  • Blood(4.5)
  • Nervous system(4.5)
  • Liver(4.4)
  • Muscle(3)
  • Stomach(2.9)
  • Intestine(2.8)
  • Pancreas(2.8)
  • Skin(2.8)
  • Eye(2.7)
  • Lung(2.3)
  • Thyroid gland(2.1)
  • Spleen(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • lower limb
  • upper limb
General:
  • 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
Dog
(Canis familiaris)
Mammalia NHE1 31
  • 96 (a)
OneToOne
SLC9A1 30
  • 92.07 (n)
Chimpanzee
(Pan troglodytes)
Mammalia SLC9A1 30
  • 94.62 (n)
Cow
(Bos Taurus)
Mammalia SLC9A1 30 31
  • 91.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc9a1 30
  • 90.14 (n)
Mouse
(Mus musculus)
Mammalia Slc9a1 30 17 31
  • 89.67 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A1 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC9A1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NHE1 31
  • 86 (a)
OneToOne
SLC9A1 30
  • 80.83 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC9A1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc9a1 30
  • 74.88 (n)
Str.7259 30
African clawed frog
(Xenopus laevis)
Amphibia NHE 30
Zebrafish
(Danio rerio)
Actinopterygii slc9a1 30
  • 71.21 (n)
SLC9A1 31
  • 69 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11910 30
Fruit Fly
(Drosophila melanogaster)
Insecta Nhe2 31
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nhx-1 31
  • 40 (a)
ManyToMany
nhx-9 31 32
  • 36 (a)
ManyToMany
nhx-3 31 32
  • 36 (a)
ManyToMany
nhx-6 31 32
  • 35 (a)
ManyToMany
nhx-2 31 32
  • 35 (a)
ManyToMany
nhx-7 32
  • 34 (a)
Species where no ortholog for SLC9A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for SLC9A1 (if available)
TreeFam:
Gene Tree for SLC9A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A1: view image

Paralogs for SLC9A1 Gene

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

  • SL9A1_HUMAN
  • B1ALD5_HUMAN
  • B4DTZ6_HUMAN
genes like me logo Genes that share paralogs with SLC9A1: view

Variants for SLC9A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638455 Uncertain Significance: Lichtenstein-knorr syndrome 27,109,735(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
713880 Benign: not provided 27,102,130(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
715703 Benign: not provided 27,101,227(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
725555 Likely Benign: not provided 27,103,316(-) G/C INTRON_VARIANT
726749 Likely Benign: not provided 27,102,135(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC9A1 Gene

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)
SLC9A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A1

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

Disorders for SLC9A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lichtenstein-knorr syndrome
  • likns
myocardial stunning
metabolic acidosis
christianson syndrome
  • mental retardation, x-linked, syndromic, christianson type
ischemia
  • acute coronary syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SL9A1_HUMAN
  • 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, ECO:0000269 PubMed:30237576}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC9A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 23
  4. 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 23
  5. 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 23

Products for SLC9A1 Gene

  • Signalway ELISA kits for SLC9A1

Sources for SLC9A1 Gene