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Details on Person UniProt:P13866 SLC5A1

Class:Id	ReferenceGeneProduct:64534
_chainChangeLog	chain:1-664 added on Fri February 6 2015
_displayName	UniProt:P13866 SLC5A1
_timestamp	2025-02-21 20:14:23
chain	chain:1-664
checksum	2B403376595EAB74
comment	FUNCTION Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:34880492, PubMed:35077764, PubMed:8563765, PubMed:37217492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galactose across the apical brush-border membrane of enterocytes, whereas basolateral exit is provided by GLUT2. Additionally, functions as a D-glucose sensor in enteroendocrine cells, triggering the secretion of the incretins GCG and GIP that control food intake and energy homeostasis (By similarity) (PubMed:8563765). Together with SGLT2, functions in reabsorption of D-glucose from glomerular filtrate, playing a nonredundant role in the S3 segment of the proximal tubules (By similarity). Transports D-glucose into endometrial epithelial cells, controlling glycogen synthesis and nutritional support for the embryo as well as the decidual transformation of endometrium prior to conception (PubMed:28974690). Acts as a water channel enabling passive water transport across the plasma membrane in response to the osmotic gradient created upon sugar and Na(+) uptake. Has high water conductivity, comparable to aquaporins, and therefore is expected to play an important role in transepithelial water permeability, especially in the small intestine.CATALYTIC ACTIVITY D-glucose(out) + 2 Na(+)(out) = D-glucose(in) + 2 Na(+)(in)CATALYTIC ACTIVITY D-galactose(out) + 2 Na(+)(out) = D-galactose(in) + 2 Na(+)(in)ACTIVITY REGULATION Enhanced by the interaction with PDZK1IP1/MAP17; but unlike SLC5A2/SGLT2, PDZK1IP1 is not essential for SLC5A1 transporter activity (PubMed:37217492). Inhibited by phlorizin (PubMed:20980548, PubMed:34880492). Possibly modulated by cholesterol binding (PubMed:34880492).BIOPHYSICOCHEMICAL PROPERTIES Expressed in intestine (PubMed:2490366). Expressed in endometrial cells (PubMed:28974690).INDUCTION Up-regulated upon transition of the endometrium from the non-receptive early secretory phase to the receptive mid-secretory phase of the cycle.DOMAIN The cholesterol-binding site is formed by transmembrane helices TM1, TM7 and TM13.PTM N-glycosylation is not necessary for the cotransporter function.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
description	recommendedName: fullName evidence="20"Sodium/glucose cotransporter 1 shortName evidence="21"Na(+)/glucose cotransporter 1 alternativeName: High affinity sodium-glucose cotransporter alternativeName: Solute carrier family 5 member 1
geneName	SLC5A1 NAGT SGLT1
identifier	P13866
isSequenceChanged	FALSE
keyword	3D-structure Alternative splicing Cell membrane Disease variant Disulfide bond Glycoprotein Ion transport Membrane Phosphoprotein Proteomics identification Reference proteome Sodium Sodium transport Sugar transport Symport Transmembrane Transmembrane helix Transport
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
name	SLC5A1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8996864] ENSEMBL:ENSG00000100170 SLC5A1 [Homo sapiens]
secondaryIdentifier	SC5A1_HUMAN B2R7E2 B7Z4Q9 B7ZA69
sequenceLength	664
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:8973063] UniProt:P13866-1 SLC5A1 [Homo sapiens] [ReferenceIsoform:8973064] UniProt:P13866-2 SLC5A1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:189243] SLC5A1 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656354] SLC5A1 Q457R [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656362] SLC5A1 D28N [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656368] SLC5A1 D28G [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656370] SLC5A1 R379* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656372] SLC5A1 Y191* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656373] SLC5A1 G100V [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5656381] SLC5A1 R135W [plasma membrane] [Homo sapiens]
(referenceSequence)	[ReplacedResidue:5656355] L-aspartic acid 28 replaced with glycine [NonsenseMutation:5656357] Nonsense mutation at L-arginine 379 [ReplacedResidue:5656359] L-arginine 135 replaced with L-tryptophan [NonsenseMutation:5656376] Nonsense mutation at L-tyrosine 191 [ReplacedResidue:5656378] glycine 100 replaced with L-valine [ReplacedResidue:5656383] L-glutamine 457 replaced with L-arginine [ReplacedResidue:5656385] L-aspartic acid 28 replaced with L-asparagine
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No pathways have been reviewed or authored by UniProt:P13866 SLC5A1 (64534)