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

    Gene ID: 84679, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See SLC9A7 in Genome Data Viewer
    Location:
    Xp11.3; Xp11.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46599251..46759118, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46006221..46166134, complement)
    RS_2024_09 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. 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
    2. 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
    3. NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma. Yao Y, et al. Cancer Commun (Lond), 2024 Feb. PMID 38152992, Free PMC Article
    4. Identification and biochemical characterization of the SLC9A7 interactome. Kagami T, et al. Mol Membr Biol, 2008 Aug. PMID 18654930
    5. 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

    See all (22) 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.
    Submit: New GeneRIF Correction

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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