SLC2A1

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

Solute Carrier Family 2 Member 1

Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690).
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).

Biological Process cellular hyperosmotic responseIEA:Ensembl
Biological Process cellular response to glucose starvationIEA:Ensembl
Biological Process cellular response to mechanical stimulusIEA:Ensembl
Biological Process central nervous system developmentManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process cerebral cortex developmentIEA:Ensembl
Biological Process dehydroascorbic acid transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process female pregnancyIEA:Ensembl
Biological Process glucose importManual Assertion Based On ExperimentIBA:GO_Central
Biological Process glucose import across plasma membraneManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process glucose transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process L-ascorbic acid metabolic processTAS:Reactome
Biological Process long-chain fatty acid import across plasma membraneManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process monosaccharide transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process photoreceptor cell maintenanceISS:UniProtKB
Biological Process protein-containing complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process response to hypoxiaIEA:Ensembl
Biological Process response to insulinManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to Thyroglobulin triiodothyronineIEA:Ensembl
Biological Process transport across blood-brain barrierManual Assertion Based On ExperimentIMP:ARUK-UCL

Cell membrane
Melanosome
Photoreceptor inner segment
Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:25982116, PubMed:24847886).
Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).

GLUT1 deficiency syndrome 1 (GLUT1DS1):
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 intellectual disability.
GLUT1 deficiency syndrome 2 (GLUT1DS2):
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 intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.
Epilepsy, idiopathic generalized 12 (EIG12):
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.
Dystonia 9 (DYT9):
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.
Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN):
A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder.

Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization.