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

Gene ID: 6526, updated on 15-Apr-2019

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
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
Expression
Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more
Orthologs

Genomic context

See SLC5A3 in Genome Data Viewer
Location:
21q22.11
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (34073523..34106262)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35445503..35515334)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928126 Neighboring gene uncharacterized LOC105372790 Neighboring gene uncharacterized LOC105372789 Neighboring gene mitochondrial ribosomal protein S6 Neighboring gene ribosomal protein S5 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 310

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Hexose transport, organism-specific biosystem (from REACTOME)
    Hexose transport, organism-specific biosystemHexoses, notably fructose, glucose, and galactose, generated in the lumen of the small intestine by breakdown of dietary carbohydrate are taken up by enterocytes lining the microvilli of the small in...
  • Inositol transporters, organism-specific biosystem (from REACTOME)
    Inositol transporters, organism-specific biosystemMyo-Inositol is a neutral cyclic polyol, abundant in mammalian tissues. It plays important roles; it is a precursor to phosphatidylinositols (PtdIns) and to the inositol phosphates (IP), which serve ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • Na+-dependent glucose transporters, organism-specific biosystem (from REACTOME)
    Na+-dependent glucose transporters, organism-specific biosystemTwo gene families are responsible for glucose transport in humans. SLC2 (encoding GLUTs) and SLC5 (encoding SGLTs) families mediate glucose absorption in the small intestine, glucose reabsorption in ...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glucose:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myo-inositol:sodium symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
glucose transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
inositol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myo-inositol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myo-inositol transport TAS
Traceable Author Statement
more info
 
peripheral nervous system development IEA
Inferred from Electronic Annotation
more info
 
regulation of respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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)

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

    See identical proteins and their annotated locations for NP_008864.4

    Status: VALIDATED

    Source sequence(s)
    AP000315, AP000467, KF457228, KF457229, KF457230
    Consensus CDS
    CCDS33549.1
    Related
    ENSP00000370543.3, ENST00000381151.5
    Conserved Domains (1) summary
    cd11491
    Location:9718
    SLC5sbd_SMIT; Na(+)/myo-inositol cotransporter SMIT and related proteins; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    34073523..34106262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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