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

Gene ID: 6548, updated on 2-May-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
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Genomic context

Location:
1p36.11
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27098809..27155125, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26938788..26996283, complement)
105.20220307 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
 
enables sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential 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_2023_10

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

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

  2. XM_054338447.1XP_054194422.1  sodium/hydrogen exchanger 1 isoform X2