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    SLC5A4 solute carrier family 5 member 4 [ Homo sapiens (human) ]

    Gene ID: 6527, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC5A4provided by HGNC
    Official Full Name
    solute carrier family 5 member 4provided by HGNC
    Primary source
    HGNC:HGNC:11039
    See related
    Ensembl:ENSG00000100191 MIM:618633; AllianceGenome:HGNC:11039
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAAT1; SGLT3; DJ90G24.4
    Summary
    Predicted to enable low-affinity D-glucose:sodium symporter activity. Predicted to be involved in D-glucose transmembrane transport and sodium ion transport. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in small intestine (RPKM 7.8), duodenum (RPKM 6.8) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See SLC5A4 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32218464..32355063, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32682547..32819011, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32614451..32651334, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 42 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32602504-32603234 Neighboring gene SLC5A4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32608089-32608590 Neighboring gene ret finger protein like 2 Neighboring gene CPSF1 pseudogene 1 Neighboring gene uncharacterized LOC107985561 Neighboring gene ret finger protein like 3 Neighboring gene RFPL3 antisense Neighboring gene immunoglobulin lambda constant/OR22-2 (pseudogene) Neighboring gene uncharacterized LOC339666

    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. A single amino acid change converts the sugar sensor SGLT3 into a sugar transporter. Bianchi L, et al. PLoS One, 2010 Apr 20. PMID 20421923, Free PMC Article
    2. Transport of the new chemotherapeutic agent beta-D-glucosylisophosphoramide mustard (D-19575) into tumor cells is mediated by the Na+-D-glucose cotransporter SAAT1. Veyhl M, et al. Proc Natl Acad Sci U S A, 1998 Mar 17. PMID 9501190, Free PMC Article
    3. A glucose sensor hiding in a family of transporters. Diez-Sampedro A, et al. Proc Natl Acad Sci U S A, 2003 Sep 30. PMID 13130073, Free PMC Article
    4. Imino sugars are potent agonists of the human glucose sensor SGLT3. Voss AA, et al. Mol Pharmacol, 2007 Feb. PMID 17110502
    5. Protection of muscle membrane excitability during cycling in humans: a role for SGLT3? Fairchild TJ. J Appl Physiol (1985), 2008 Jan. PMID 18198291

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intestinal sodium/glucose cotransporter 3 expression is epithelial and downregulated in obesity.
      Title: Intestinal sodium/glucose cotransporter 3 expression is epithelial and downregulated in obesity.
    2. Whole-exome sequencing (WES) of several extended pedigrees with high density of attention-deficit/hyperactivity disorder (ADHD) identified a triplet ATG deletion in SLC5A4 leading to a single amino acid loss (DeltaM500) in the hSGLT3 protein imperfectly co-segregating with the clinical phenotype of ADHD. [DeltaM500] in hSGLT3 inhibits membrane targeting and thus largely disrupts glucose-induced sodium conductance.
      Title: Functional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD.
    3. Data suggest SGLT3 in neurons of portal vein wall plays role in sensing blood glucose level and in satiety response; dietary protein indirectly affects satiety response via up-regulation of intestinal gluconeogenesis and thus blood glucose. [REVIEW]
      Title: Metabolic effects of portal vein sensing.
    4. the expression and functional role of SGLT3 in the human kidney
      Title: A novel SGLT is expressed in the human kidney.
    5. hSGLT3 functions as a sugar sensor in vivo and mutating a single amino acid converts this sugar sensor into a sugar transporter similar to SGLT1.
      Title: A single amino acid change converts the sugar sensor SGLT3 into a sugar transporter.
    6. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Neuroticism mediates the association of the serotonin transporter gene with lifetime major depression.
    8. Suggest SGLT3 may be a possible candidate for changes in membrane potential of skeletal muscle during periods of glucose-supplemented exercise.
      Title: Protection of muscle membrane excitability during cycling in humans: a role for SGLT3?
    9. determination that SGLT3 is not a Na+/glucose cotransporter but instead a glucose sensor in the plasma membrane of cholinergic neurons, skeletal muscle, and other tissues
      Title: A glucose sensor hiding in a family of transporters.
    10. substrate specificity study of imino sugars with hSGLT3; results for hSGLT3 are compared with those for alpha-glucosidases and human SGLT type 1
      Title: Imino sugars are potent agonists of the human glucose sensor SGLT3.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables D-glucose:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable glucose sensor protein SLC5A4
    Names
    Na(+)/glucose cotransporter 3
    low affinity sodium-glucose cotransporter
    sodium transporter
    sodium/glucose cotransporter 3
    solute carrier family 5 (glucose activated ion channel), member 4
    solute carrier family 5 (low affinity glucose cotransporter), member 4
    solute carrier family 5 (neutral amino acid transporters, system A), member 4

    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.

    mRNA and Protein(s)

    1. NM_014227.3 → NP_055042.1  probable glucose sensor protein SLC5A4

      See identical proteins and their annotated locations for NP_055042.1

      Status: VALIDATED

      Source sequence(s)
      AJ133127, AL008723
      Consensus CDS
      CCDS13903.1
      UniProtKB/Swiss-Prot
      O15279, Q9NY91
      Related
      ENSP00000266086.3, ENST00000266086.6
      Conserved Domains (1) summary
      cl00456
      Location:27 → 659
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      32218464..32355063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028920.2 → XP_016884409.1  probable glucose sensor protein SLC5A4 isoform X1

    2. XM_006724308.4 → XP_006724371.1  probable glucose sensor protein SLC5A4 isoform X2

      See identical proteins and their annotated locations for XP_006724371.1

      Conserved Domains (1) summary
      cl00456
      Location:1 → 613
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. XM_011530342.3 → XP_011528644.1  probable glucose sensor protein SLC5A4 isoform X2

      See identical proteins and their annotated locations for XP_011528644.1

      Conserved Domains (1) summary
      cl00456
      Location:1 → 613
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. XM_011530343.3 → XP_011528645.1  probable glucose sensor protein SLC5A4 isoform X2

      See identical proteins and their annotated locations for XP_011528645.1

      Conserved Domains (1) summary
      cl00456
      Location:1 → 613
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    5. XM_011530344.3 → XP_011528646.1  probable glucose sensor protein SLC5A4 isoform X3

      Conserved Domains (1) summary
      cl00456
      Location:1 → 590
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      32682547..32819011 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325869.1 → XP_054181844.1  probable glucose sensor protein SLC5A4 isoform X2

    2. XM_054325868.1 → XP_054181843.1  probable glucose sensor protein SLC5A4 isoform X2

    3. XM_054325867.1 → XP_054181842.1  probable glucose sensor protein SLC5A4 isoform X1

    4. XM_054325870.1 → XP_054181845.1  probable glucose sensor protein SLC5A4 isoform X2

    5. XM_054325871.1 → XP_054181846.1  probable glucose sensor protein SLC5A4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NY91.1 GenPept UniProtKB/Swiss-Prot:Q9NY91

    Gene LinkOut

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