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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]
SLC2A1 (Solute Carrier Family 2 Member 1) is a Protein Coding gene. Diseases associated with SLC2A1 include Glut1 Deficiency Syndrome 1 and Stomatin-Deficient Cryohydrocytosis With Neurologic Defects. Among its related pathways are Hexose transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include identical protein binding and transmembrane transporter activity. An important paralog of this gene is SLC2A4.
Glucose transporters enable the movement of glucose, a hydrophilic molecule, across the cell membrane. Glucose is an essential source of energy for mammalian cells, and is also used as a substrate in protein and lipid synthesis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005215 | transporter activity | IEA | -- |
GO:0005355 | glucose transmembrane transporter activity | IDA | 2211693 |
GO:0005515 | protein binding | IPI | 18347014 |
GO:0019900 | kinase binding | IEA | -- |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0001939 | female pronucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0005989 | lactose biosynthetic process | TAS | -- |
GO:0006970 | response to osmotic stress | IEA | -- |
GO:0007565 | female pregnancy | IEA | -- |
GO:0008643 | carbohydrate transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-glucose | Approved, Investigational, Vet_approved | Pharma | Transporter, substrate | 0 | ||
carboxymethylcellulose | Approved, Investigational | Pharma | Target, binder | 0 | ||
Dextrose, unspecified form | Approved, Vet_approved | Pharma | Transporter, substrate | 0 | ||
Etomidate | Approved | Pharma | Carrier, inhibitor | General anesthetic with GABA modulatory and GABA-mimetic actions | 77 | |
Fludeoxyglucose (18F) | Approved, Investigational | Pharma | Transporter, substrate | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
L-Dehydroascorbic acid |
|
490-83-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
L-Dehydroascorbic acid | GLUT1 substrate; oxidized form of L-Ascorbic acid | 490-83-5 |
Compound | Action | Cas Number |
---|---|---|
Metformin HCl | Anti-diabetic drug | 1115-70-4 |
Phloretin | A dihydrochalcone found in apple | 60-82-2 |
STF 31 | 724741-75-7 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SLC2A1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | SLC2A1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | SLC2A1 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Slc2a1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Slc2a1 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SLC2A1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | SLC2A1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SLC2A1 33 32 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | MGC53301 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | slc2a1a 33 |
|
OneToMany | |
slc2a1b 33 32 |
|
OneToMany | |||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11901 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | sut1 34 |
|
|
|
CG7882 34 |
|
|
|||
sut4 34 |
|
|
|||
Glut1 33 34 |
|
OneToMany | |||
sut3 34 |
|
|
|||
sut2 34 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | H17B01.1b 34 |
|
|
|
H17B01.1a 34 |
|
|
|||
fgt-1 33 |
|
ManyToMany | |||
R09B5.11 33 34 |
|
ManyToMany | |||
F53H8.3 33 34 |
|
ManyToMany | |||
K08F9.1 34 |
|
|
|||
C35A11.4 34 |
|
|
|||
Y37A1A.3 34 |
|
|
|||
F48E3.2 34 |
|
|
|||
Y61A9LA.1 34 |
|
|
|||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFL034W 32 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 33 |
|
ManyToMany | |
VPS73 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7972 33 |
|
OneToMany | |
Cin.7007 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7007 32 |
|
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057515457 | uncertain-significance, Dystonia, Glucose transporter type 1 deficiency syndrome | 42,925,430(-) | A/G | 3_prime_UTR_variant | |
rs1057515458 | uncertain-significance, Dystonia, Glucose transporter type 1 deficiency syndrome | 42,925,760(-) | T/C | 3_prime_UTR_variant | |
rs1057515570 | uncertain-significance, Glucose transporter type 1 deficiency syndrome, Dystonia | 42,925,477(-) | G/A | 3_prime_UTR_variant | |
rs1057517822 | uncertain-significance, pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive, not provided | 42,930,724(-) | C/G/T | coding_sequence_variant, missense_variant | |
rs1057518821 | pathogenic, Cerebellar ataxia, Global developmental delay, Microcephaly, Myoclonus, Seizures | 42,930,672(-) | CCC/CCCC | coding_sequence_variant, frameshift |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2657422 | CNV | deletion | 23128226 |
esv3585860 | CNV | loss | 21293372 |
nsv699 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glut1 deficiency syndrome 1 |
|
|
stomatin-deficient cryohydrocytosis with neurologic defects |
|
|
glut1 deficiency syndrome 2 |
|
|
dystonia 9 |
|
|
epilepsy, idiopathic generalized 12 |
|