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

    Gene ID: 6526, updated on 4-Jan-2025

    Summary

    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, Jan 2025]
    Expression
    Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (53 hits/1264 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-glucose:sodium symporter activity  
    enables D-glucose:sodium symporter activity  
    enables fucose transmembrane transporter activity  
    enables myo-inositol transmembrane transporter activity  
    enables myo-inositol:sodium symporter activity PubMed 
    enables myo-inositol:sodium symporter activity  
    enables myo-inositol:sodium symporter activity  
    enables pentose transmembrane transporter activity  
    enables polyol transmembrane transporter activity  
    enables potassium channel regulator activity PubMed 
    enables protein binding PubMed 
    enables transmembrane transporter binding PubMed 
    Process Evidence Code Pubs
    involved_in D-glucose transmembrane transport  
    involved_in fucose transmembrane transport  
    involved_in inositol metabolic process  
    involved_in myo-inositol import across plasma membrane  
    involved_in myo-inositol transport  
    involved_in myo-inositol transport  
    involved_in myo-inositol transport  
    involved_in pentose transmembrane transport  
    involved_in polyol transmembrane transport  
    acts_upstream_of_or_within positive regulation of catalytic activity  
    acts_upstream_of_or_within positive regulation of protein localization to membrane  
    acts_upstream_of_or_within positive regulation of reactive oxygen species biosynthetic process  
    involved_in sodium ion transmembrane transport  
    involved_in transport across blood-brain barrier PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in basolateral plasma membrane  
    located_in membrane PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    located_in plasma membrane  

    General protein information

    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)
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