SLC2A1 - solute carrier family 2 member 1 Gene
Also Known as CSE; PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT-1; SDCHCN; GLUT1DS
Species: Homo sapiens
About SLC2A1
This gene has 15 transcripts (splice variants), 374 orthologues, 13 paralogues and is associated with 14 phenotypes. Biased expression in placenta (RPKM 289.6), skin (RPKM 60.0) and 6 other tissues.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006516.4 | NP_006507.2 | solute carrier family 2, facilitated glucose transporter member 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables D-glucose transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
2211693 | GOA |
| enables D-glucose transmembrane transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
1714544 | GOA |
| enables dehydroascorbic acid transmembrane transporter activity |
EXP
EXP: Inferred from Experiment
|
9228080 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
1429721 | GOA |
| enables long-chain fatty acid transmembrane transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
10227690 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18347014 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
31678436 | GOA |
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
31791063 | GOA |
| located in cortical actin cytoskeleton |
IDA
IDA: Inferred from direct assay
|
18347014 | GOA |
| part of glucose transporter complex |
IPI
IPI: Inferred from physical interaction
|
1429721 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
1714544 | GOA |
| located in midbody |
IDA
IDA: Inferred from direct assay
|
15166316 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
2211693 | GOA |
| is active in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
10227690 | GOA |
SLC2A1 Protein Structure
Sugar_tr: Sugar (and other) transporter (19 - 466)
- 0
- 100
- 200
- 300
- 400
- 492 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
solute carrier family 2, facilitated glucose transporter member 1 |
|
|
SLC2A1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC2A1 | P11166 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
SLC2A1 | P11166 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
SLC2A1 | P11166 | CREB3 | Homo sapiens | O43889-2 | 25910212 | |
|
Intra
|
SLC2A1 | P11166 | SLC2A1 | Homo sapiens | P11166 | 1429721 | |
|
Intra
|
SLC2A1 | P11166 | SLC2A1 | Homo sapiens | P11166 | 1429721 |
SLC2A1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85845 | Glucose Transporter GLUT1 Antibody (YA5537) | WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86013 | Glucose 6 Phosphate Dehydrogenase Antibody (YA5705) | IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Hemolytic Anemia |
|
|
| Alternating Hemiplegia Of Childhood |
|
|
| Hemangioma |
|
|
| Dystonia 9 |
|
|
| Microvascular Complications Of Diabetes 5 |
|
|
| Dystonia |
|
|
| Spastic Paraplegia 9b, Autosomal Recessive |
|
|
| Rapidly Involuting Congenital Hemangioma |
|
|
| Schizophrenia |
|
|
| Hemangioblastoma |
|
|
| Epilepsy, Myoclonic Juvenile |
|
|
| Hyperinsulinism |
|
|
| Hemangioma Of Lung |
|
|
| Papillary Adenocarcinoma |
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
|
| Cystadenoma |
|
|
| Myoclonus |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Glucose Transporter Type 1 Deficiency Syndrome |
|
|
| Gastric Cancer |
|
|
| Acanthosis Nigricans |
|
|
| Hemiplegia |
|
|
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
|
| Episodic Ataxia, Type 8 |
|
|
| Paroxysmal Choreoathetosis |
|
|
| Epilepsy With Myoclonic Absences |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Breast Cancer |
|
|
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
|
| Cryohydrocytosis |
|
|
| Angiokeratoma Circumscriptum |
|
|
| Nervous System Disease |
|
|
| Paroxysmal Dystonia |
|
|
| Stroke, Ischemic |
|
|
| Mediastinum Sarcoma |
|
|
| Dravet Syndrome |
|
|
| Deafness, Autosomal Recessive 2 |
|
|
| Ovarian Cancer |
|
|
| Glut1 Deficiency Syndrome 2 |
|
|
| West Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Perineurioma |
|
|
| Hypopigmentation Of Eyelid |
|
|
| Endometrial Cancer |
|
|
| Epilepsy, Idiopathic Generalized 12 |
|
|
| Epilepsy |
|
|
| Renal Pelvis Adenocarcinoma |
|
|
| Malignant Peripheral Nerve Sheath Tumor |
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Hypoascorbemia |
|
|
| Diabetes Mellitus |
|
|
| Pyogenic Granuloma |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Meningioma, Familial |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Microcephaly |
|
|
| Colorectal Cancer |
|
|
| Peripheral Nervous System Disease |
|
|
| Renal Glucosuria |
|
|
| Epilepsy, Pyridoxine-Dependent |
|
|
| Capillary Disease |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Hypoglycemia |
|
|
| Necrobiosis Lipoidica |
|
|
| Pancreatic Cancer |
|
|
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Fat Necrosis Of Breast |
|
|
| Early Onset Absence Epilepsy |
|
|
| Skin Hemangioma |
|
|
| Movement Disease |
|
|
| Migraine With Aura |
|
|
| Spasticity |
|
|
| Hyperglycemia |
|
|
| Lung Cancer |
|
|
| Retinitis Pigmentosa |
|
|
| Capillary Hemangioma |
|
|
| Pacinian Tumor |
|
|
| Choreatic Disease |
|
|
| Arteriovenous Malformation |
|
|
| Dystonia, Dopa-Responsive |
|
|
| Glycine Encephalopathy |
|
|
| Tuberous Sclerosis |
|
|
| Angiokeratoma |
|
|
| Strabismus |
|
|
| Glut1 Deficiency Syndrome 1 |
|
|
| Metagonimiasis |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Gestational Diabetes |
|
|
| Epilepsy With Myoclonic-Atonic Seizures |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Intraneural Perineurioma |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Cavernous Hemangioma |
|
|
| Lennox-Gastaut Syndrome |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Childhood Absence Epilepsy |
|
|
| Aceruloplasminemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SLC2A1 | RGD | RGD:3704 |
| Bos taurus | SLC2A1 | VGNC | VGNC:34796 |
| Canis familiaris | SLC2A1 | VGNC | VGNC:46337 |
| Mus musculus | SLC2A1 | MGD | MGI:95755 |
| Felis catus | SLC2A1 | VGNC | VGNC:65299 |
| Macaca mulatta | SLC2A1 | VGNC | VGNC:77447 |
| Others | SLC2A1 | NCBI |