SLC5A1
Sodium/glucose cotransporter 1
Also known as: D22S675, NAGT, SC5A1_HUMAN, SGLT1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P13866
- Gene
- SLC5A1
- Ensembl
- ENSG00000100170
- Chromosome
- 22
- Canonical length
- 664 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nuclear membrane,Golgi apparatus,Plasma membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
664 residues, UniProt reviewed canonical sequence.
>P13866|SLC5A1
1 MDSSTWSPKT TAVTRPVETH ELIRNAADIS IIVIYFVVVM AVGLWAMFST NRGTVGGFFL
61 AGRSMVWWPI GASLFASNIG SGHFVGLAGT GAASGIAIGG FEWNALVLVV VLGWLFVPIY
121 IKAGVVTMPE YLRKRFGGQR IQVYLSLLSL LLYIFTKISA DIFSGAIFIN LALGLNLYLA
181 IFLLLAITAL YTITGGLAAV IYTDTLQTVI MLVGSLILTG FAFHEVGGYD AFMEKYMKAI
241 PTIVSDGNTT FQEKCYTPRA DSFHIFRDPL TGDLPWPGFI FGMSILTLWY WCTDQVIVQR
301 CLSAKNMSHV KGGCILCGYL KLMPMFIMVM PGMISRILYT EKIACVVPSE CEKYCGTKVG
361 CTNIAYPTLV VELMPNGLRG LMLSVMLASL MSSLTSIFNS ASTLFTMDIY AKVRKRASEK
421 ELMIAGRLFI LVLIGISIAW VPIVQSAQSG QLFDYIQSIT SYLGPPIAAV FLLAIFWKRV
481 NEPGAFWGLI LGLLIGISRM ITEFAYGTGS CMEPSNCPTI ICGVHYLYFA IILFAISFIT
541 IVVISLLTKP IPDVHLYRLC WSLRNSKEER IDLDAEEENI QEGPKETIEI ETQVPEKKKG
601 IFRRAYDLFC GLEQHGAPKM TEEEEKAMKM KMTDTSEKPL WRTVLNVNGI ILVTVAVFCH
661 AYFALocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC5A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 14
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 498 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 498 nTPM
- small intestine: 285 nTPM
- heart muscle: 71 nTPM
- gallbladder: 25 nTPM
- salivary gland: 19 nTPM
- skin: 13 nTPM
Single-cell type
- enterocytes: 1,404 nCPM
- cholangiocytes: 173 nCPM
- cardiomyocytes: 135 nCPM
- late spermatids: 125 nCPM
- enteric transient amplifying cells: 100 nCPM
- esophageal apical cells: 82 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 2.4 nTPM
- cerebellum: 1.7 nTPM
- basal ganglia: 1.6 nTPM
- cerebral cortex: 1.6 nTPM
- medulla oblongata: 1.6 nTPM
- pons: 1.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC5A1.
Disease | AllUniProt
Conditions SLC5A1 is implicated in, by any mechanism.
- Congenital glucose/galactose malabsorption (GGM) MIM:606824
Disease | GeneticClinVar
45 pathogenic / likely-pathogenic of 548 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital glucose-galactose malabsorption
- SLC5A1-related disorder
- Renal glycosuria
- SLC5A1-related glucose/galactose malabsorption
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.83
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alpha-glucoside transport
- D-glucose import across plasma membrane
- D-glucose transmembrane transport
- fucose transmembrane transport
- galactose transmembrane transport
- intestinal D-glucose absorption
- intestinal hexose absorption
- myo-inositol transport
- pentose transmembrane transport
- renal D-glucose absorption
- sodium ion import across plasma membrane
- sodium ion transport
- transepithelial water transport
- transport across blood-brain barrier
Molecular functions
- alpha-glucoside transmembrane transporter activity
- D-glucose transmembrane transporter activity
- D-glucose:sodium symporter activity
- fucose transmembrane transporter activity
- galactose transmembrane transporter activity
- myo-inositol:sodium symporter activity
- pentose transmembrane transporter activity
- water transmembrane transporter activity
- galactose:sodium symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC5A1 as an antibody target. Whether an autoantibody or antibody against SLC5A1 could matter depends on whether native SLC5A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC5A1 is annotated at the cell surface, where native SLC5A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC5A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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