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Details on Person UniProt:P11166 SLC2A1

Class:Id	ReferenceGeneProduct:56064
_chainChangeLog	chain:1-492 added on Fri February 6 2015
_displayName	UniProt:P11166 SLC2A1
_timestamp	2024-11-03 19:41:10
chain	chain:1-492
checksum	E71E1C6BD1B00B1E
comment	FUNCTION Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity). Required for mesendoderm differentiation (By similarity).CATALYTIC ACTIVITY D-glucose(out) = D-glucose(in)ACTIVITY REGULATION The uptake of glucose is inhibited by cytochalasin B and Phe-amide core-scaffold inhibitors GLUT-i1 and GLUT-i2 (PubMed:27078104). These inhibitors bind in the central cavity of the inward-open state and overlap the glucose-binding site (PubMed:27078104). Glucose uptake is increased in response to phorbol ester 12-O-tetradecanoylphorbol-13-acetate (TPA) treatment: TPA-induced glucose uptake requires phosphorylation at Ser-226 (PubMed:25982116). Interacts with SMIM43; the interaction may promote SLC2A1-mediated glucose transport to meet the energy needs of mesendoderm differentiation (PubMed:35810171).BIOPHYSICOCHEMICAL PROPERTIES Carbohydrate degradation.SUBUNIT Interacts with GIPC (via PDZ domain) (By similarity). Found in a complex with ADD2, DMTN and SLC2A1. Interacts (via C-terminus cytoplasmic region) with DMTN isoform 2 (PubMed:18347014). Interacts with SNX27; the interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma membrane (PubMed:23563491). Interacts with STOM (PubMed:23219802). Interacts with SGTA (via Gln-rich region) (By similarity). Interacts with isoform 1 of BSG (PubMed:25957687).INTERACTION Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:24847886, PubMed:25982116). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).TISSUE SPECIFICITY Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.PTM Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.ONLINE INFORMATION GLUT1 entry
description	recommendedName: fullName evidence="47"Solute carrier family 2, facilitated glucose transporter member 1 alternativeName: fullName evidence="44"Glucose transporter type 1, erythrocyte/brain shortName evidence="44"GLUT-1 alternativeName: fullName evidence="45 46"HepG2 glucose transporter
geneName	SLC2A1 GLUT1
identifier	P11166
isSequenceChanged	FALSE
keyword	3D-structure Acetylation Cataract Cell membrane Direct protein sequencing Disease variant Dystonia Epilepsy Glycoprotein Hereditary hemolytic anemia Intellectual disability Membrane Phosphoprotein Proteomics identification Reference proteome Sugar transport Transmembrane Transmembrane helix Transport
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
name	SLC2A1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8998343] ENSEMBL:ENSG00000117394 SLC2A1 [Homo sapiens]
secondaryIdentifier	GTR1_HUMAN A8K9S6 B2R620 D3DPX0 O75535 Q0P512 Q147X2
sequenceLength	492
species	[Species:48887] Homo sapiens
(referenceEntity)	[EntityWithAccessionedSequence:70399] SLC2A1 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632825] SLC2A1 R223P [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632827] SLC2A1 K456* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632835] SLC2A1 Y449* [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632866] SLC2A1 R126L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632870] SLC2A1 K256V [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5632874] SLC2A1 S342L [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:5653883] SLC2A1 [Golgi membrane] [Homo sapiens]
(referenceSequence)	[ReplacedResidue:5632777] L-lysine 256 replaced with L-valine [NonsenseMutation:5632786] Nonsense mutation at L-tyrosine 449 [NonsenseMutation:5632799] Nonsense mutation at L-lysine 456 [ReplacedResidue:5632831] L-serine 342 replaced with L-leucine [ReplacedResidue:5632848] L-arginine 223 replaced with L-proline [ReplacedResidue:5632864] L-arginine 126 replaced with L-leucine
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No pathways have been reviewed or authored by UniProt:P11166 SLC2A1 (56064)