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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC5A1
solute carrier family 5 member 1
Chromosome 22 Β· 22q12.3
NCBI Gene: 6523Ensembl: ENSG00000100170.11HGNC: HGNC:11036UniProt: P13866
129PubMed Papers
21Diseases
2Drugs
44Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chloride transmembrane transportwater transmembrane transporter activitytransepithelial water transportalpha-glucoside transmembrane transporter activityglucose-galactose malabsorptionheart failuretype 2 diabetes mellitustype 1 diabetes mellitus
✦AI Summary

SLC5A1 encodes SGLT1 (sodium-glucose cotransporter 1), an electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose and D-galactose across cell membranes with a 2:1 Na(+) to sugar coupling ratio 1. SGLT1 plays critical roles in glucose homeostasis by mediating dietary glucose absorption in the intestine and glucose reabsorption in kidney proximal tubules, where it works complementarily with SGLT2 23. The transporter functions as both a glucose transporter and water channel, enabling passive water transport in response to osmotic gradients created during sugar uptake 1. Mutations in SLC5A1 cause glucose/galactose malabsorption, a genetic disorder affecting intestinal sugar absorption 2. Beyond metabolic transport, SGLT1 demonstrates therapeutic relevance as genetic studies suggest its inhibition may protect against cerebral small vessel disease and reduce frailty/sarcopenia through various metabolic mediators 45. Additionally, SLC5A1 expression has been implicated in glioblastoma cell migration, where the transporter localizes to the leading edges of migrating cells 6. These findings establish SGLT1 as a multifunctional transporter with roles spanning glucose homeostasis, water transport, and potential therapeutic applications in neurological and oncological contexts.

Sources cited
1
SGLT1 is an electrogenic Na(+)-coupled sugar symporter with 2:1 Na(+) to sugar coupling ratio and functions as both glucose transporter and water channel
PMID: 34880492
2
SGLT1 mediates dietary glucose uptake in intestine and mutations cause glucose/galactose malabsorption
PMID: 30132033
3
SGLT1 works with SGLT2 in kidney glucose reabsorption from glomerular filtrate
PMID: 30132032
4
SGLT1 inhibition may protect against cerebral small vessel disease through metabolic mediators
PMID: 38715111
5
SGLT1 inhibition potentially reduces frailty and sarcopenia through multiple biological mediators
PMID: 39474649
6
SLC5A1 localizes to leading edges of migrating glioblastoma cells and its inhibition impairs cell migration
PMID: 36497276
Disease Associationsβ“˜21
glucose-galactose malabsorptionOpen Targets
0.82Strong
heart failureOpen Targets
0.54Moderate
type 2 diabetes mellitusOpen Targets
0.54Moderate
type 1 diabetes mellitusOpen Targets
0.50Moderate
chronic kidney diseaseOpen Targets
0.48Moderate
diabetes mellitusOpen Targets
0.41Moderate
Glucose intoleranceOpen Targets
0.37Weak
nasopharyngeal neoplasmOpen Targets
0.37Weak
hypertrophic cardiomyopathyOpen Targets
0.27Weak
renal glycosuriaOpen Targets
0.27Weak
cardiovascular diseaseOpen Targets
0.26Weak
cancerOpen Targets
0.21Weak
breast cancerOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
breast neoplasmOpen Targets
0.17Weak
uterine fibroidOpen Targets
0.16Weak
obesityOpen Targets
0.11Weak
goutOpen Targets
0.11Weak
dilated cardiomyopathyOpen Targets
0.09Suggestive
kidney diseaseOpen Targets
0.09Suggestive
Congenital glucose/galactose malabsorptionUniProt
Pathogenic Variants44
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)Pathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)Pathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 457
NM_000343.4(SLC5A1):c.372+2_372+8delinsCTTATATTAAGGPathogenic
Congenital glucose-galactose malabsorption|SLC5A1-related glucose/galactose malabsorption
β˜…β˜…β˜†β˜†2025
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜…β˜†β˜†2025β†’ Residue 63
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)Pathogenic
Congenital glucose-galactose malabsorption|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 255
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro)Likely pathogenic
SLC5A1-related disorder|Congenital glucose-galactose malabsorption|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 159
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter)Likely pathogenic
SLC5A1-related disorder|Congenital glucose-galactose malabsorption
β˜…β˜…β˜†β˜†2024β†’ Residue 67
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)Likely pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜…β˜†β˜†2023β†’ Residue 336
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATATLikely pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2026
NM_000343.4(SLC5A1):c.1613_1614insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCATTTCTTT (p.Phe538_Ile539insPhePhePhePhePhePheXaaXaaXaaXaaSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 538
NM_000343.4(SLC5A1):c.1566del (p.Cys522fs)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 522
NM_000343.4(SLC5A1):c.1495C>T (p.Arg499Cys)Likely pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 499
NM_000343.4(SLC5A1):c.1065C>A (p.Cys355Ter)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 355
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 292
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)Likely pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 28
NM_000343.4(SLC5A1):c.259del (p.Leu87fs)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2025β†’ Residue 87
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2024β†’ Residue 466
NM_000343.4(SLC5A1):c.207+2T>CLikely pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2024
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2024β†’ Residue 225
NM_000343.4(SLC5A1):c.1151C>G (p.Ser384Ter)Pathogenic
Congenital glucose-galactose malabsorption
β˜…β˜†β˜†β˜†2024β†’ Residue 384
View on ClinVar β†—
Drug Targets2
LICOGLIFLOZINPhase II
Sodium/glucose cotransporter 1 inhibitor
heart failure
SOTAGLIFLOZINApproved
Sodium/glucose cotransporter 1 inhibitor
diabetes mellitus
Related Genes
EGFRProtein interaction95%GNAT3Protein interaction90%SLC2A5Protein interaction86%RSC1A1Protein interaction84%SLC15A1Protein interaction81%INSProtein interaction78%
Tissue Expression6 tissues
Heart
100%
Liver
3%
Brain
1%
Lung
1%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SLC5A1EGFRGNAT3SLC2A5RSC1A1SLC15A1INS
PROTEIN STRUCTURE
Preparing viewer…
PDB7SLA Β· 3.15 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.70]
RankingsWhere SLC5A1 stands among ~20K protein-coding genes
  • #3,635of 20,598
    Most Researched129 Β· top quartile
  • #922of 1,025
    FDA-Approved Drug Targets1
  • #1,439of 5,498
    Most Pathogenic Variants44
  • #5,384of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedSLC5A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Development of SGLT1 and SGLT2 inhibitors.
PMID: 30132033
Diabetologia Β· 2018
1.00
2
Structure and mechanism of the SGLT family of glucose transporters.
PMID: 34880492
Nature Β· 2022
0.90
3
Physiology of renal glucose handling via SGLT1, SGLT2 and GLUT2.
PMID: 30132032
Diabetologia Β· 2018
0.80
4
SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism.
PMID: 30442778
Science Β· 2018
0.70
5
SGLT1 and SGLT2 inhibition, circulating metabolites, and cerebral small vessel disease: a mediation Mendelian Randomization study.
PMID: 38715111
Cardiovasc Diabetol Β· 2024
0.60