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    SLC9A1 solute carrier family 9 member A1 [ Homo sapiens (human) ]

    Gene ID: 6548, updated on 3-Dec-2024

    Summary

    Official Symbol
    SLC9A1provided by HGNC
    Official Full Name
    solute carrier family 9 member A1provided by HGNC
    Primary source
    HGNC:HGNC:11071
    See related
    Ensembl:ENSG00000090020 MIM:107310; AllianceGenome:HGNC:11071
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APNH; NHE1; LIKNS; NHE-1; PPP1R143
    Summary
    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]
    Expression
    Ubiquitous expression in stomach (RPKM 26.5), salivary gland (RPKM 13.2) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC9A1 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27098809..27155125, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26938788..26996283, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27425300..27481616, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27332251-27332894 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27332895-27333538 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27333539-27334182 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:27334827-27335470 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27338587-27339240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27339241-27339895 Neighboring gene terminal nucleotidyltransferase 5B Neighboring gene uncharacterized LOC101928391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27361397-27361898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27364454-27364954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27368765-27369317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27372795-27373295 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr1:27376127-27376944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27376945-27377760 Neighboring gene Sharpr-MPRA regulatory region 512 Neighboring gene Sharpr-MPRA regulatory region 8493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27428314-27429172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27429173-27430031 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:27431568-27432767 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:27436564-27436768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27438447-27438948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27440010-27440584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27440585-27441158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27443453-27444164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27444875-27445585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27445586-27446295 Neighboring gene Sharpr-MPRA regulatory region 8944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27464001-27464812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27482511-27483010 Neighboring gene uncharacterized LOC102723760 Neighboring gene ribosomal protein L18a pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC9A1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef EIPA, a potent and specific inhibitor of Na+/H+ exchanger activity, significantly inhibits the Nef internalization into M2-macrophages, indicating that Nef is imported by Na+/H+ exchanger (solute carrier family 9, subfamily A) PubMed
    Vpr vpr HIV-1 Vpr-induced downregulation of sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells leads to acidification of cells, loss of ezrin, radixin and moesin (ERM) protein complex and decrease of AKT phosphorylation PubMed
    vpr HIV-1 Vpr downregulates sodium hydrogen exchanger, isoform 1 (NHE1), in Vpr(+) virus infected cells as compared to Vpr(-) virus infected control PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39602, FLJ42224

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase 2B binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein phosphatase 2B binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables sodium:proton antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sodium:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium:proton antiporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sodium:proton antiporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle cell contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to acidic pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to acidic pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cold IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to epinephrine stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular sodium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of cell polarity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of calcium:sodium antiporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitochondrial membrane permeability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of the force of heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein complex oligomerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proton transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell membrane potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction by calcium ion signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of focal adhesion assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of intracellular pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of pH TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of stress fiber assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of the force of heart contraction by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to acidic pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of cation-transporting ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sodium/hydrogen exchanger 1
    Names
    Na(+)/H(+) exchanger 1
    Na-Li countertransporter
    protein phosphatase 1, regulatory subunit 143
    solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)
    solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030006.1 RefSeqGene

      Range
      4836..61152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003047.5NP_003038.2  sodium/hydrogen exchanger 1

      See identical proteins and their annotated locations for NP_003038.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      AF141357, AK314190, AL137860, BQ775318, DA313453, DA853045
      Consensus CDS
      CCDS295.1
      UniProtKB/Swiss-Prot
      B1ALD6, D3DPL4, P19634, Q96EM2
      UniProtKB/TrEMBL
      B2RAH2
      Related
      ENSP00000263980.3, ENST00000263980.8
      Conserved Domains (3) summary
      TIGR00840
      Location:95660
      b_cpa1; sodium/hydrogen exchanger 3
      pfam00999
      Location:105503
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      pfam16644
      Location:602700
      NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin

    RNA

    1. NR_046474.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK300432, AL137860, BQ775318, DA313453, DA853045

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      27098809..27155125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542021.4XP_011540323.1  sodium/hydrogen exchanger 1 isoform X1

      UniProtKB/TrEMBL
      B2RAH2
      Conserved Domains (3) summary
      TIGR00840
      Location:5550
      b_cpa1; sodium/hydrogen exchanger 3
      pfam00999
      Location:19393
      Na_H_Exchanger; Sodium/hydrogen exchanger family
      pfam16644
      Location:492590
      NEXCaM_BD; Regulatory region of Na+/H+ exchanger NHE binds to calmodulin
    2. XM_047428769.1XP_047284725.1  sodium/hydrogen exchanger 1 isoform X1

      UniProtKB/TrEMBL
      B2RAH2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      26938788..26996283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338446.1XP_054194421.1  sodium/hydrogen exchanger 1 isoform X1

      UniProtKB/TrEMBL
      B2RAH2
    2. XM_054338447.1XP_054194422.1  sodium/hydrogen exchanger 1 isoform X2