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Aliases for SLC5A1 Gene

Aliases for SLC5A1 Gene

  • Solute Carrier Family 5 Member 1 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 1 2 3
  • High Affinity Sodium-Glucose Cotransporter 3 4
  • Sodium/Glucose Cotransporter 1 2 3
  • SGLT1 3 4
  • NAGT 3 4
  • Na(+)/Glucose Cotransporter 1 4
  • Na+/Glucose Cotransporter 1 3
  • D22S675 3

External Ids for SLC5A1 Gene

Previous HGNC Symbols for SLC5A1 Gene

  • SGLT1

Previous GeneCards Identifiers for SLC5A1 Gene

  • GC22P029135
  • GC22P030763
  • GC22P030769
  • GC22P032439
  • GC22P015394

Summaries for SLC5A1 Gene

Entrez Gene Summary for SLC5A1 Gene

  • 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]

GeneCards Summary for SLC5A1 Gene

SLC5A1 (Solute Carrier Family 5 Member 1) is a Protein Coding gene. Diseases associated with SLC5A1 include Glucose/Galactose Malabsorption and Osmotic Diarrhea. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include transporter activity and glucose:sodium symporter activity. An important paralog of this gene is SLC5A4.

UniProtKB/Swiss-Prot for SLC5A1 Gene

  • Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.

Gene Wiki entry for SLC5A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A1 Gene

Genomics for SLC5A1 Gene

Regulatory Elements for SLC5A1 Gene

Enhancers for SLC5A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G032078 1.6 Ensembl ENCODE dbSUPER 11.7 +36.2 36198 2.2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF302 ZNF143 ZNF207 FOS SP3 LINC01521 SLC5A1 LOC100422292 SLC5A4 BPIFC PIR57309
GH22G032072 1.1 ENCODE dbSUPER 16.6 +31.9 31904 4.0 HDAC1 PKNOX1 BMI1 FOS NR2F2 MEF2D PRDM6 GLIS1 PBX2 KDM1A SLC5A1 BPIFC YWHAH PIR57309
GH22G032019 1 ENCODE dbSUPER 12.3 -20.1 -20073 6.3 PKNOX1 MTA2 JUNB MAFG ZNF7 FOSL1 MEF2D TCF12 ARID3A MAFF SLC5A1 BPIFC PIR44941 RN7SL305P
GH22G032137 1.2 Ensembl ENCODE 9.9 +95.0 94991 2.0 HDGF PKNOX1 SIN3A ARID4B DMAP1 ZNF48 YY1 ELK1 MXD4 NCOA1 SLC5A4 BPIFC SLC5A1 PIR36978 ENSG00000239674
GH22G031917 1.2 Ensembl ENCODE dbSUPER 9.2 -125.2 -125232 1.6 HDGF BACH1 MAX ZIC2 EGR1 EED SCRT2 ETV6 RELB IKZF2 YWHAH C22orf24 RNU6-201P DEPDC5 PRR14L SLC5A1 ENSG00000227813
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC5A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC5A1 Gene

Chromosome:
22
Start:
32,043,032 bp from pter
End:
32,113,029 bp from pter
Size:
69,998 bases
Orientation:
Plus strand

Genomic View for SLC5A1 Gene

Genes around SLC5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A1 Gene

Proteins for SLC5A1 Gene

  • Protein details for SLC5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13866-SC5A1_HUMAN
    Recommended name:
    Sodium/glucose cotransporter 1
    Protein Accession:
    P13866
    Secondary Accessions:
    • B2R7E2
    • B7Z4Q9
    • B7ZA69

    Protein attributes for SLC5A1 Gene

    Size:
    664 amino acids
    Molecular mass:
    73498 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC5A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC5A1 Gene

Post-translational modifications for SLC5A1 Gene

Other Protein References for SLC5A1 Gene

No data available for DME Specific Peptides for SLC5A1 Gene

Domains & Families for SLC5A1 Gene

Gene Families for SLC5A1 Gene

Protein Domains for SLC5A1 Gene

Graphical View of Domain Structure for InterPro Entry

P13866

UniProtKB/Swiss-Prot:

SC5A1_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A1: view

Function for SLC5A1 Gene

Molecular function for SLC5A1 Gene

GENATLAS Biochemistry:
solute carrier family 5 (sodium/glucose cotransporter),member 1
UniProtKB/Swiss-Prot Function:
Actively transports glucose into cells by Na(+) cotransport with a Na(+) to glucose coupling ratio of 2:1. Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na(+)/glucose cotransporter arranged in series along kidney proximal tubules.

Gene Ontology (GO) - Molecular Function for SLC5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005412 glucose:sodium symporter activity TAS --
GO:0005515 protein binding IPI 18455122
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A1: view
genes like me logo Genes that share phenotypes with SLC5A1: view

Human Phenotype Ontology for SLC5A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC5A1 Gene

MGI Knock Outs for SLC5A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A1

CRISPR Products

miRNA for SLC5A1 Gene

miRTarBase miRNAs that target SLC5A1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC5A1 Gene

Localization for SLC5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC5A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8563765
GO:0005911 cell-cell junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC5A1: view

Pathways & Interactions for SLC5A1 Gene

genes like me logo Genes that share pathways with SLC5A1: view

Pathways by source for SLC5A1 Gene

1 Cell Signaling Technology pathway for SLC5A1 Gene
1 BioSystems pathway for SLC5A1 Gene

Gene Ontology (GO) - Biological Process for SLC5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001951 intestinal D-glucose absorption IBA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0008643 carbohydrate transport IEA --
genes like me logo Genes that share ontologies with SLC5A1: view

No data available for SIGNOR curated interactions for SLC5A1 Gene

Drugs & Compounds for SLC5A1 Gene

(29) Drugs for SLC5A1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Canagliflozin Approved Pharma Inhibition, Inhibitor, blocker, Target, inhibitor SGLT2 inhibitor,potent and selective 109
Dapagliflozin Approved Pharma Inhibition, Inhibitor, blocker SGLT2 inhibitor,potent and selective 0
Empagliflozin Approved Pharma Inhibition, Inhibitor 133
remogliflozin Pharma Inhibition, Inhibitor 0
sergliflozin Pharma Inhibition, Inhibitor 0

(15) Additional Compounds for SLC5A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(3) ApexBio Compounds for SLC5A1 Gene

Compound Action Cas Number
Empagliflozin (BI 10773) SGLT-2 inhibitor for oral treatment of type 2 diabetes 864070-44-0
LX-4211 SGLT1/SGLT2 inhibitor 1018899-04-1
PF-04971729 SGLT inhibitor 1210344-57-2
genes like me logo Genes that share compounds with SLC5A1: view

Drug Products

Transcripts for SLC5A1 Gene

Unigene Clusters for SLC5A1 Gene

Solute carrier family 5 (sodium/glucose cotransporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A1 Gene

No ASD Table

Relevant External Links for SLC5A1 Gene

GeneLoc Exon Structure for
SLC5A1
ECgene alternative splicing isoforms for
SLC5A1

Expression for SLC5A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x17.5), Heart - Left Ventricle (x16.0), and Heart - Atrial Appendage (x5.7).

Protein differential expression in normal tissues from HIPED for SLC5A1 Gene

This gene is overexpressed in Cervix (23.6), Urine (14.6), Fetal gut (14.3), and Adrenal (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC5A1 Gene



Protein tissue co-expression partners for SLC5A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A1 Gene:

SLC5A1

SOURCE GeneReport for Unigene cluster for SLC5A1 Gene:

Hs.1964

mRNA Expression by UniProt/SwissProt for SLC5A1 Gene:

P13866-SC5A1_HUMAN
Tissue specificity: Expressed mainly in intestine and kidney.

Evidence on tissue expression from TISSUES for SLC5A1 Gene

  • Heart(4.5)
  • Intestine(3.4)
  • Kidney(2.8)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • mouth
Thorax:
  • heart
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • anus
  • rectum
General:
  • blood vessel
genes like me logo Genes that share expression patterns with SLC5A1: view

Primer Products

Orthologs for SLC5A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A1 34 35
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia SLC5A1 34
  • 87.1 (n)
SGLT1 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A1 34 35
  • 87.06 (n)
mouse
(Mus musculus)
Mammalia Slc5a1 34 16 35
  • 85.09 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a1 34
  • 84.54 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A1 34 35
  • 74.82 (n)
lizard
(Anolis carolinensis)
Reptilia SLC5A1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493915 34
  • 72.08 (n)
zebrafish
(Danio rerio)
Actinopterygii slc5a1 34 35
  • 72.06 (n)
zgc66074 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12162 34
fruit fly
(Drosophila melanogaster)
Insecta CG33124 35
  • 19 (a)
ManyToMany
salt 35
  • 18 (a)
ManyToMany
CG2187 35
  • 17 (a)
ManyToMany
CG31668 35
  • 17 (a)
ManyToMany
CG6723 35
  • 17 (a)
ManyToMany
CG8451 35
  • 17 (a)
ManyToMany
CG9657 35
  • 17 (a)
ManyToMany
Smvt 35
  • 17 (a)
ManyToMany
CG31262 35
  • 16 (a)
ManyToMany
CG5687 35
  • 16 (a)
ManyToMany
CG7720 35
  • 16 (a)
ManyToMany
CG42235 35
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZK822.5 35
  • 17 (a)
ManyToMany
F52H2.4 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 14 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14066 34
Species where no ortholog for SLC5A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC5A1 Gene

ENSEMBL:
Gene Tree for SLC5A1 (if available)
TreeFam:
Gene Tree for SLC5A1 (if available)

Paralogs for SLC5A1 Gene

(6) SIMAP similar genes for SLC5A1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SLC5A1 Gene

genes like me logo Genes that share paralogs with SLC5A1: view

Variants for SLC5A1 Gene

Sequence variations from dbSNP and Humsavar for SLC5A1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121912668 Pathogenic, Congenital glucose/galactose malabsorption (GGM) [MIM:606824] 32,043,363(+) CAGCC(A/G)ATATC reference, missense
rs121912669 Pathogenic, Congenital glucose/galactose malabsorption (GGM) [MIM:606824] 32,043,364(+) AGCCG(A/G)TATCT reference, missense
rs200406921 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] 32,099,305(+) CATTG(A/C/T)GGCTG intron-variant, reference, missense
rs371505974 Congenital glucose/galactose malabsorption (GGM) [MIM:606824] 32,084,966(+) TGTGT(A/G)GGTAT reference, missense
VAR_021502 Congenital glucose/galactose malabsorption (GGM) [MIM:606824]

Structural Variations from Database of Genomic Variants (DGV) for SLC5A1 Gene

Variant ID Type Subtype PubMed ID
dgv4559n100 CNV gain 25217958
dgv4560n100 CNV loss 25217958
esv2422247 CNV duplication 17116639
esv3568360 CNV loss 25503493
esv3568361 CNV loss 25503493
esv3568362 CNV loss 25503493
esv3568363 CNV loss 25503493
esv3575475 CNV gain 25503493
esv3575476 CNV gain 25503493
esv3647597 CNV gain 21293372
esv3647598 CNV gain 21293372
esv3893474 CNV gain 25118596
nsv1110864 OTHER inversion 24896259
nsv3596 CNV deletion 18451855
nsv834177 CNV gain 17160897
nsv834178 CNV loss 17160897

Variation tolerance for SLC5A1 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC5A1 Gene

Human Gene Mutation Database (HGMD)
SLC5A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A1 Gene

Disorders for SLC5A1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC5A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glucose/galactose malabsorption
  • glucose-galactose malabsorption
osmotic diarrhea
renal glucosuria
  • renal glycosuria
chylomicron retention disease
  • anderson disease
microvillus inclusion disease
  • diarrhea 2, with microvillus atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC5A1_HUMAN
  • Congenital glucose/galactose malabsorption (GGM) [MIM:606824]: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. {ECO:0000269 PubMed:10036327, ECO:0000269 PubMed:11406349, ECO:0000269 PubMed:2008213, ECO:0000269 PubMed:8195156}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC5A1 Gene

glucose-galactose malabsorption

Relevant External Links for SLC5A1

Genetic Association Database (GAD)
SLC5A1
Human Genome Epidemiology (HuGE) Navigator
SLC5A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC5A1
genes like me logo Genes that share disorders with SLC5A1: view

Publications for SLC5A1 Gene

  1. Structure of the human Na+/glucose cotransporter gene SGLT1. (PMID: 8195156) Turk E. … Wright E.M. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. (PMID: 10036327) Lam J.T. … Wright E.M. (Biochim. Biophys. Acta 1999) 3 4 22 64
  3. Membrane topology of the human Na+/glucose cotransporter SGLT1. (PMID: 8567640) Turk E. … Wright E.M. (J. Biol. Chem. 1996) 3 4 22 64
  4. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. (PMID: 2008213) Turk E. … Wright E.M. (Nature 1991) 3 4 22 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for SLC5A1 Gene

Sources for SLC5A1 Gene

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