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    SLC5A3 solute carrier family 5 member 3 [ Homo sapiens (human) ]

    Gene ID: 6526, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC5A3provided by HGNC
    Official Full Name
    solute carrier family 5 member 3provided by HGNC
    Primary source
    HGNC:HGNC:11038
    See related
    Ensembl:ENSG00000198743 MIM:600444; AllianceGenome:HGNC:11038
    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
    BCW2; SMIT; SMIT1; SMIT2
    Summary
    Enables myo-inositol:sodium symporter activity; potassium channel regulator activity; and transmembrane transporter binding activity. Predicted to be involved in several processes, including inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including positive regulation of protein localization to membrane; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in perinuclear region of cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC5A3 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (34073578..34106260)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (32455648..32488333)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35445878..35478559)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:35348180-35349379 Neighboring gene uncharacterized LOC101928126 Neighboring gene uncharacterized LOC105372790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18388 Neighboring gene uncharacterized LOC105372789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18392 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:35409658-35410857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35439104-35439620 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35440377-35440478 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:35445789-35446739 Neighboring gene mitochondrial ribosomal protein S6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:35501946-35502490 Neighboring gene RPS5 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35531196-35531696 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35551498-35552375 Neighboring gene long intergenic non-protein coding RNA 310

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. SLC5A3 is important for cervical cancer cell growth. Li L, et al. Int J Biol Sci, 2023. PMID 37324953, Free PMC Article
    2. The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Berry GT, et al. Genomics, 1995 Jan 20. PMID 7789985
    3. The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. Berry GT, et al. Cytogenet Cell Genet, 1996. PMID 8646889
    4. The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Mallee JJ, et al. Genomics, 1997 Dec 15. PMID 9441750
    5. Human Na(+)-myo-inositol cotransporter gene: alternate splicing generates diverse transcripts. Porcellati F, et al. Am J Physiol, 1998 May. PMID 9612208

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC5A3 is important for cervical cancer cell growth.
      Title: SLC5A3 is important for cervical cancer cell growth.
    2. The sodium/myo-inositol co-transporter SLC5A3 promotes non-small cell lung cancer cell growth.
      Title: The sodium/myo-inositol co-transporter SLC5A3 promotes non-small cell lung cancer cell growth.
    3. Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.
      Title: Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis.
    4. Results show that SMIT1 is expressed in the heart. SMIT1 is able to detect increased extracellular glucose levels and triggers signaling leading to NOX2 activation and ROS production.
      Title: Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart.
    5. SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore
      Title: SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore.
    6. overexpression of the Na(+)/myo-inositol cotransporter (SMIT1) and myo-inositol supplementation enlarged intracellular PI(4,5)P2 pools, modulated several PI(4,5)P2-dependent ion channels including KCNQ2/3 channels, and attenuated the action potential firing of superior cervical ganglion neurons
      Title: Osmoregulatory inositol transporter SMIT1 modulates electrical activity by adjusting PI(4,5)P2 levels.
    7. Hypotonic stress causes a significant upregulation of SLC5A3 gene expression as detected by semiquantitative RT-PCR and Western blot analysis.
      Title: Hypotonic activation of the myo-inositol transporter SLC5A3 in HEK293 cells probed by cell volumetry, confocal and super-resolution microscopy.
    8. A kinetic model has been generated for the transport mechanism of SMIT2 allowing insight into the transport of members of the LeuT structural family at the millisecond timescale.
      Title: The transport mechanism of the human sodium/myo-inositol transporter 2 (SMIT2/SGLT6), a member of the LeuT structural family.
    9. JAK2 contributes to the regulation of the myoinositol transporter SMIT.
      Title: Down-regulation of the myoinositol transporter SMIT by JAK2.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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 of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    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
    enables D-glucose:sodium symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables D-glucose:sodium symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables fucose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myo-inositol transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myo-inositol:sodium symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables myo-inositol:sodium symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myo-inositol:sodium symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables pentose transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables polyol transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables potassium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in D-glucose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fucose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in inositol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myo-inositol import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myo-inositol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myo-inositol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myo-inositol transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in pentose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in polyol transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of protein localization to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within positive regulation of reactive oxygen species biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm 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 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium/myo-inositol cotransporter
    Names
    Na(+)/myo-inositol cotransporter
    sodium/myo-inositol cotransporter 1
    sodium/myo-inositol transporter 1
    solute carrier family 5 (inositol transporters), member 3
    solute carrier family 5 (sodium/myo-inositol cotransporter), member 3

    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_006933.7 → NP_008864.4  sodium/myo-inositol cotransporter

      Status: VALIDATED

      Source sequence(s)
      AP000315, AP000467, KF457228, KF457229, KF457230
      Consensus CDS
      CCDS33549.1
      UniProtKB/Swiss-Prot
      O43489, P53794
      Related
      ENSP00000370543.3, ENST00000381151.5
      Conserved Domains (1) summary
      cd11491
      Location:9 → 718
      SLC5sbd_SMIT; Na(+)/myo-inositol cotransporter SMIT and related proteins; 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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      34073578..34106260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      32455648..32488333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53794.4 GenPept UniProtKB/Swiss-Prot:P53794

    Gene LinkOut

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

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