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SLC9A7 solute carrier family 9 member A7 [ Homo sapiens (human) ]

Gene ID: 84679, updated on 5-Mar-2024

Summary

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Official Symbol
SLC9A7provided by HGNC
Official Full Name
solute carrier family 9 member A7provided by HGNC
Primary source
HGNC:HGNC:17123
See related
Ensembl:ENSG00000065923 MIM:300368; AllianceGenome:HGNC:17123
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
NHE7; NHE-7; MRX108; SLC9A6
Summary
This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression
Broad expression in brain (RPKM 6.0), lymph node (RPKM 3.6) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
Xp11.3; Xp11.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46599251..46759118, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46006221..46166134, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46458686..46618553, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20791 Neighboring gene marker of proliferation Ki-67 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:46447043-46447647 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:46447648-46448251 Neighboring gene carbohydrate sulfotransferase 7 Neighboring gene uncharacterized LOC124905182 Neighboring gene phosphoglycerate mutase 1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29572 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:46569386-46570585 Neighboring gene Y-box binding protein 1 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29574 Neighboring gene CHMP5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29576 Neighboring gene Sharpr-MPRA regulatory region 10799 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:46673232-46673357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29577 Neighboring gene RP2 activator of ARL3 GTPase Neighboring gene long intergenic non-protein coding RNA 1545

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The intracellular Na(+)/H(+) exchanger NHE7 effects a Na(+)-coupled, but not K(+)-coupled proton-loading mechanism in endocytosis. Milosavljevic N, et al. Cell Rep, 2014 May 8. PMID 24767989
  2. Organellar (Na+, K+)/H+ exchanger NHE7 regulates cell adhesion, invasion and anchorage-independent growth of breast cancer MDA-MB-231 cells. Onishi I, et al. Oncol Rep, 2012 Feb. PMID 22076128
  3. Delineation of cystinuria in Saudi Arabia: A case series. Obaid A, et al. BMC Nephrol, 2017 Feb 6. PMID 28166740, Free PMC Article
  4. A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes. Fukura N, et al. J Membr Biol, 2010 Apr. PMID 20364249
  5. Identification and biochemical characterization of the SLC9A7 interactome. Kagami T, et al. Mol Membr Biol, 2008 Aug. PMID 18654930

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma.
    Title: NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma.
  2. These data implicate a crucial role for SLC9A7 in the regulation of TGN/post-Golgi pH homeostasis and glycosylation of exported cargo, which may underlie the cellular pathophysiology and neurodevelopmental deficits associated with this particular nonsyndromic form of X-linked intellectual disability.
    Title: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
  3. In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8).
    Title: Delineation of cystinuria in Saudi Arabia: A case series.
  4. NHE7 mediates an acidification of intracellular vesicles that is additive to that of V-ATPases and that accelerates endocytosis.
    Title: The intracellular Na(+)/H(+) exchanger NHE7 effects a Na(+)-coupled, but not K(+)-coupled proton-loading mechanism in endocytosis.
  5. these results suggest that NHE7 enhances tumor progression.
    Title: Organellar (Na+, K+)/H+ exchanger NHE7 regulates cell adhesion, invasion and anchorage-independent growth of breast cancer MDA-MB-231 cells.
  6. This review defines NHE6-9 as organellar NHEs that are fairly dynamic, implying that they are subjected to intracellular trafficking and thus they continuously shuttle between organelles and the plasma membrane.
    Title: Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.
  7. The results suggest that two membrane proximal regions (residues 533-559 and 563-568) play an important role in targeting NHE7 to the TGN
    Title: A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes.
  8. Among the NHE7-binding proteins identified, CD44, a cell surface glycoprotein receptor for hyaluronate and other ligands, showed regulated interaction with NHE7.
    Title: Identification and biochemical characterization of the SLC9A7 interactome.
  9. Secretory carrier membrane proteins participate in the shuttling of NHE7 between recycling vesicles and the TGN
    Title: Secretory carrier membrane proteins interact and regulate trafficking of the organellar (Na+,K+)/H+ exchanger NHE7.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder, X-linked 108
MedGen: C5193009 OMIM: 301024 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables potassium:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables potassium:proton antiporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
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 TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Golgi lumen acidification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of pH IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sodium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sodium/hydrogen exchanger 7
Names
Na(+)/H(+) exchanger 7
nonselective sodium potassium/proton exchanger
solute carrier family 9 (sodium/hydrogen exchanger)
solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7

NCBI Reference Sequences (RefSeq)

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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_012622.2 RefSeqGene

    Range
    4920..164787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257291.2 → NP_001244220.1  sodium/hydrogen exchanger 7 isoform 1

    See identical proteins and their annotated locations for NP_001244220.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI081096, AL022165, BC094742
    Consensus CDS
    CCDS75967.1
    UniProtKB/TrEMBL
    A0A087WXD1
    Related
    ENSP00000480916.1, ENST00000616978.5
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

  2. NM_032591.3 → NP_115980.1  sodium/hydrogen exchanger 7 isoform 2

    See identical proteins and their annotated locations for NP_115980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF298591, AI081096, AL022165, AL050307
    Consensus CDS
    CCDS14269.1
    UniProtKB/Swiss-Prot
    O75827, Q5JXP9, Q96T83
    Related
    ENSP00000330320.4, ENST00000328306.4
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 534
    Na_H_Exchanger; Sodium/hydrogen exchanger family

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    46599251..46759118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029905.2 → XP_016885394.1  sodium/hydrogen exchanger 7 isoform X1

    UniProtKB/TrEMBL
    A0A087WXD1
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

  2. XM_005272682.5 → XP_005272739.1  sodium/hydrogen exchanger 7 isoform X1

    See identical proteins and their annotated locations for XP_005272739.1

    UniProtKB/TrEMBL
    A0A087WXD1
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

  3. XM_011543990.3 → XP_011542292.1  sodium/hydrogen exchanger 7 isoform X1

    See identical proteins and their annotated locations for XP_011542292.1

    UniProtKB/TrEMBL
    A0A087WXD1
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

  4. XM_005272681.5 → XP_005272738.1  sodium/hydrogen exchanger 7 isoform X1

    See identical proteins and their annotated locations for XP_005272738.1

    UniProtKB/TrEMBL
    A0A087WXD1
    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

  5. XM_047442581.1 → XP_047298537.1  sodium/hydrogen exchanger 7 isoform X2

  6. XM_047442582.1 → XP_047298538.1  sodium/hydrogen exchanger 7 isoform X2

  7. XM_017029906.3 → XP_016885395.1  sodium/hydrogen exchanger 7 isoform X2

    Conserved Domains (1) summary
    pfam00999
    Location:176 → 535
    Na_H_Exchanger; Sodium/hydrogen exchanger family

RNA

  1. XR_007068203.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    46006221..46166134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327996.1 → XP_054183971.1  sodium/hydrogen exchanger 7 isoform X1

    UniProtKB/TrEMBL
    A0A087WXD1

  2. XM_054327994.1 → XP_054183969.1  sodium/hydrogen exchanger 7 isoform X1

    UniProtKB/TrEMBL
    A0A087WXD1

  3. XM_054327995.1 → XP_054183970.1  sodium/hydrogen exchanger 7 isoform X1

    UniProtKB/TrEMBL
    A0A087WXD1

  4. XM_054327993.1 → XP_054183968.1  sodium/hydrogen exchanger 7 isoform X1

    UniProtKB/TrEMBL
    A0A087WXD1

  5. XM_054327998.1 → XP_054183973.1  sodium/hydrogen exchanger 7 isoform X2

  6. XM_054327999.1 → XP_054183974.1  sodium/hydrogen exchanger 7 isoform X2

  7. XM_054327997.1 → XP_054183972.1  sodium/hydrogen exchanger 7 isoform X2

RNA

  1. XR_008485512.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96T83.1 GenPept UniProtKB/Swiss-Prot:Q96T83

Gene LinkOut

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