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Aliases for SLC5A1 Gene

Aliases for SLC5A1 Gene

  • Solute Carrier Family 5 Member 1 2 3 4
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 1 2 3 5
  • High Affinity Sodium-Glucose Cotransporter 3 4
  • SGLT1 3 4
  • NAGT 3 4
  • Sodium/Glucose Cotransporter 1 2
  • 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 renal glucosuria. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include transporter activity and glucose:sodium symporter activity. An important paralog of this gene is SLC5A10.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A1 Gene

Genomics for SLC5A1 Gene

Regulatory Elements for SLC5A1 Gene

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

Proteomics data for SLC5A1 Gene at MOPED

Post-translational modifications for SLC5A1 Gene

  • N-glycosylation is not necessary for the cotransporter function.
  • Glycosylation at Asn 248
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC5A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC5A1 (SLC5A1)

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.
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

miRNA for SLC5A1 Gene

miRTarBase miRNAs that target SLC5A1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SLC5A1 Gene COMPARTMENTS Subcellular localization image for SLC5A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8563765
GO:0016020 membrane IEA --
GO:0016324 apical plasma 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

Gene Ontology (GO) - Biological Process for SLC5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001951 intestinal D-glucose absorption IBA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006810 transport IEA --
GO:0015758 glucose transport IMP 8563765
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Canagliflozin Approved Pharma Inhibition, Inhibitor, blocker, Target, inhibitor SGLT2 inhibitor,potent and selective 98
Dapagliflozin Approved Pharma Inhibition, Inhibitor, blocker SGLT2 inhibitor,potent and selective 0
Empagliflozin Approved Pharma Inhibition, Inhibitor 93
remogliflozin Pharma Inhibition, Inhibitor 0
sergliflozin Pharma Inhibition, Inhibitor 0

(16) 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
genes like me logo Genes that share compounds with SLC5A1: view

Transcripts for SLC5A1 Gene

Unigene Clusters for SLC5A1 Gene

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

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 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



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.
genes like me logo Genes that share expression patterns with SLC5A1: view

Protein tissue co-expression partners for SLC5A1 Gene

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
SLC5A1 35
  • 99.25 (n)
  • 98.8 (a)
cow
(Bos Taurus)
Mammalia SLC5A1 35
  • 87.1 (n)
  • 85.84 (a)
SGLT1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A1 36
  • 87 (a)
OneToOne
SLC5A1 35
  • 87.06 (n)
  • 87.16 (a)
mouse
(Mus musculus)
Mammalia Slc5a1 16
Slc5a1 36
  • 88 (a)
OneToOne
Slc5a1 35
  • 85.09 (n)
  • 88.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC5A1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a1 35
  • 84.54 (n)
  • 87.95 (a)
chicken
(Gallus gallus)
Aves SLC5A1 35
  • 74.82 (n)
  • 80.56 (a)
SLC5A1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC5A1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493915 35
  • 72.08 (n)
  • 75.87 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12162 35
zebrafish
(Danio rerio)
Actinopterygii slc5a1 36
  • 71 (a)
OneToOne
slc5a1 35
  • 72.06 (n)
  • 75.16 (a)
zgc66074 35
fruit fly
(Drosophila melanogaster)
Insecta CG2187 36
  • 17 (a)
ManyToMany
CG31262 36
  • 16 (a)
ManyToMany
CG31668 36
  • 17 (a)
ManyToMany
CG33124 36
  • 19 (a)
ManyToMany
CG42235 36
  • 14 (a)
ManyToMany
CG5687 36
  • 16 (a)
ManyToMany
CG6723 36
  • 17 (a)
ManyToMany
CG7720 36
  • 16 (a)
ManyToMany
CG8451 36
  • 17 (a)
ManyToMany
CG9657 36
  • 17 (a)
ManyToMany
salt 36
  • 18 (a)
ManyToMany
Smvt 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F52H2.4 36
  • 16 (a)
ManyToMany
ZK822.5 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14066 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 14 (a)
OneToOne
Species with no ortholog for SLC5A1:
  • 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
VAR_007168 Congenital glucose/galactose malabsorption (GGM)
VAR_013630 Congenital glucose/galactose malabsorption (GGM)
VAR_021502 Congenital glucose/galactose malabsorption (GGM)
VAR_021503 Congenital glucose/galactose malabsorption (GGM)
VAR_021504 Congenital glucose/galactose malabsorption (GGM)

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

Variant ID Type Subtype PubMed ID
nsv834177 CNV Gain 17160897
esv2422247 CNV Duplication 17116639
nsv834178 CNV Loss 17160897
nsv3596 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
SLC5A1
Human Gene Mutation Database (HGMD)
SLC5A1

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

Disorders for SLC5A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glucose/galactose malabsorption
  • glucose-galactose malabsorption
renal glucosuria
  • renal glycosuria
osmotic diarrhea
lactose intolerance
  • lm - lactose malabsorption
giardiasis
  • beaver feaver
- 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 23 67
  2. Protein kinase-A affects sorting and conformation of the sodium-dependent glucose co-transporter SGLT1. (PMID: 19115253) Subramanian S. … Castaneda F. (J. Cell. Biochem. 2009) 3 23
  3. SGLT1 is a novel cardiac glucose transporter that is perturbed in disease states. (PMID: 19509029) Banerjee S.K. … Ahmad F. (Cardiovasc. Res. 2009) 3 23
  4. Survival of cancer cells is maintained by EGFR independent of its kinase activity. (PMID: 18455122) Weihua Z. … Hung M.C. (Cancer Cell 2008) 3 23
  5. Expression of SGLT1, Bcl-2 and p53 in primary pancreatic cancer related to survival. (PMID: 18853313) Casneuf V.F. … Peeters M. (Cancer Invest. 2008) 3 23

Products for SLC5A1 Gene

Sources for SLC5A1 Gene

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