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SLC5A1 solute carrier family 5 member 1 [ Homo sapiens (human) ]

Gene ID: 6523, updated on 10-Dec-2019

Summary

Official Symbol
SLC5A1provided by HGNC
Official Full Name
solute carrier family 5 member 1provided by HGNC
Primary source
HGNC:HGNC:11036
See related
Ensembl:ENSG00000100170 MIM:182380
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAGT; SGLT1; D22S675
Summary
This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Biased expression in duodenum (RPKM 262.7), small intestine (RPKM 154.2) and 1 other tissue See more
Orthologs

Genomic context

See SLC5A1 in Genome Data Viewer
Location:
22q12.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (32043050..32113029)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32439019..32509016)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2558 Neighboring gene RNA, 7SL, cytoplasmic 305, pseudogene Neighboring gene ribosomal protein S17 pseudogene 16 Neighboring gene uncharacterized LOC105373000 Neighboring gene AP1B1 pseudogene 1 Neighboring gene AP1B1 pseudogene 2

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 Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat induces Na-D-glucose symporter (SGLT-1) mis-sorting and inhibits glucose uptake in human enterocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Carbohydrate digestion and absorption, organism-specific biosystem (from KEGG)
    Carbohydrate digestion and absorption, organism-specific biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • Carbohydrate digestion and absorption, conserved biosystem (from KEGG)
    Carbohydrate digestion and absorption, conserved biosystemDietary carbohydrate in humans and omnivorous animals is a major nutrient. The carbohydrates that we ingest vary from the lactose in milk to complex carbohydrates. These carbohydrates are digested t...
  • 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...
  • Mineral absorption, organism-specific biosystem (from KEGG)
    Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • Mineral absorption, conserved biosystem (from KEGG)
    Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
  • 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 
glucose:sodium symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
glucose:sodium symporter activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intestinal hexose absorption TAS
Traceable Author Statement
more info
 
sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
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/glucose cotransporter 1
Names
Na+/glucose cotransporter 1
high affinity sodium-glucose cotransporter
solute carrier family 5 (sodium/glucose cotransporter), member 1

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.

Genomic

  1. NG_017045.1 RefSeqGene

    Range
    5230..74998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000343.4NP_000334.1  sodium/glucose cotransporter 1 isoform 1

    See identical proteins and their annotated locations for NP_000334.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK312948, DQ656053, Z83839
    Consensus CDS
    CCDS13902.1
    UniProtKB/Swiss-Prot
    P13866
    Related
    ENSP00000266088.4, ENST00000266088.9
    Conserved Domains (1) summary
    cd11486
    Location:27664
    SLC5sbd_SGLT1; Na(+)/glucose cotransporter SGLT1;solute binding domain
  2. NM_001256314.1NP_001243243.1  sodium/glucose cotransporter 1 isoform 2

    See identical proteins and their annotated locations for NP_001243243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 5' exons compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a weak Kozak sequence and a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK297665, M24847, Z74021, Z83839
    Consensus CDS
    CCDS58805.1
    UniProtKB/Swiss-Prot
    P13866
    Related
    ENSP00000444898.1, ENST00000543737.2
    Conserved Domains (1) summary
    cl00456
    Location:1537
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    32043050..32113029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530331.1XP_011528633.1  sodium/glucose cotransporter 1 isoform X1

    Conserved Domains (1) summary
    cl00456
    Location:27427
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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