InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC2A1

Summary

InnateDB Protein

IDBP-381854.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC2A1

Protein Name

solute carrier family 2 (facilitated glucose transporter), member 1

Synonyms

DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED;

Species

Homo sapiens

Ensembl Protein

ENSP00000416293

InnateDB Gene

IDBG-97330 (SLC2A1)

Protein Structure

UniProt Annotation

Function

Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. {ECO:0000269PubMed:18245775, ECO:0000269PubMed:19449892}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Disease Associations

GLUT1 deficiency syndrome 1 (GLUT1DS1) [MIM:606777]: A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. {ECO:0000269PubMed:10227690, ECO:0000269PubMed:10980529, ECO:0000269PubMed:11136715, ECO:0000269PubMed:11603379, ECO:0000269PubMed:12325075, ECO:0000269PubMed:15622525, ECO:0000269PubMed:19901175, ECO:0000269PubMed:20129935, ECO:0000269PubMed:20221955, ECO:0000269PubMed:20574033}. Note=The disease is caused by mutations affecting the gene represented in this entry.GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion- induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269PubMed:14605501, ECO:0000269PubMed:18451999, ECO:0000269PubMed:19630075, ECO:0000269PubMed:19798636, ECO:0000269PubMed:20129935, ECO:0000269PubMed:20574033, ECO:0000269PubMed:20621801, ECO:0000269PubMed:20830593, ECO:0000269PubMed:21204808}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epilepsy, idiopathic generalized 12 (EIG12) [MIM:614847]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. {ECO:0000269PubMed:19798636, ECO:0000269PubMed:22282645}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dystonia 9 (DYT9) [MIM:601042]: An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia. {ECO:0000269PubMed:21832227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues. {ECO:0000269PubMed:23219802}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	20 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005355	glucose transmembrane transporter activity
GO:0005515	protein binding
GO:0019900	kinase binding
GO:0022857	transmembrane transporter activity
GO:0022891	substrate-specific transmembrane transporter activity
GO:0033300	dehydroascorbic acid transporter activity
GO:0042802	identical protein binding
GO:0042910	xenobiotic transporter activity
GO:0043621	protein self-association
GO:0055056	D-glucose transmembrane transporter activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006112	energy reserve metabolic process
GO:0006461	protein complex assembly
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006970	response to osmotic stress
GO:0008645	hexose transport
GO:0015758	glucose transport
GO:0019852	L-ascorbic acid metabolic process
GO:0042149	cellular response to glucose starvation
GO:0042908	xenobiotic transport
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0055085	transmembrane transport
GO:0070837	dehydroascorbic acid transport

Cellular Component

GO:0001939	female pronucleus
GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005901	caveola
GO:0005911	cell-cell junction
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0030496	midbody
GO:0030864	cortical actin cytoskeleton
GO:0031982	vesicle
GO:0042470	melanosome
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle

Protein Structure and Domains

PDB ID

InterPro

IPR002439 Glucose transporter, type 1 (GLUT1)
IPR003663 Sugar/inositol transporter
IPR005828 General substrate transporter
IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain

PFAM

PF00083
PF07690

PRINTS

PR01190
PR00171

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P11166