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

Gene ID: 6527, updated on 2-Nov-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, Nov 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 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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