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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 ... See more...
Aliases for SLC2A1 Gene
Aliases for SLC2A1 Gene
- Solute Carrier Family 2 Member 1 2 3 5
- Choreoathetosis/Spasticity, Episodic (Paroxysmal Choreoathetosis/Spasticity) 2 3
- Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1 2 3
- Solute Carrier Family 2, Facilitated Glucose Transporter Member 1 3 4
- Human T-Cell Leukemia Virus (I And II) Receptor 2 3
- Glucose Transporter Type 1, Erythrocyte/Brain 3 4
- HepG2 Glucose Transporter 3 4
- GLUT-1 3 4
- DYT18 2 3
- GLUT1 3 4
External Ids for SLC2A1 Gene
- HGNC: 11005
- Entrez Gene: 6513
- Ensembl: ENSG00000117394
- OMIM: 138140
- UniProtKB: P11166
Previous HGNC Symbols for SLC2A1 Gene
- GLUT1
- GLUT
- HTLVR
- CSE
Previous GeneCards Identifiers for SLC2A1 Gene
- GC01P043382
- GC01M042395
- GC01M042855
- GC01M042804
- GC01M043060
- GC01M043164
- GC01M043391
- GC01M041511
Summaries for SLC2A1 Gene
-
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]
GeneCards Summary for SLC2A1 Gene
SLC2A1 (Solute Carrier Family 2 Member 1) is a Protein Coding gene. Diseases associated with SLC2A1 include Dystonia 9 and Glut1 Deficiency Syndrome 1. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and HIF1Alpha Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and transmembrane transporter activity. An important paralog of this gene is SLC2A4.
UniProtKB/Swiss-Prot Summary for SLC2A1 Gene
-
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).
-
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.
Additional gene information for SLC2A1 Gene
- HGNC(11005)
- Entrez Gene(6513)
- Ensembl(ENSG00000117394)
- OMIM(138140)
- UniProtKB(P11166)
- Open Targets Platform(ENSG00000117394)
- Monarch Initiative
- Search for SLC2A1 at DataMed
- Search for SLC2A1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC2A1 Gene
Genomics for SLC2A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SLC2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SLC2A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC2A1
- Top Transcription factor binding sites by QIAGEN in the SLC2A1 gene promoter:
-
- aMEF-2
- AP-1
- c-Jun
- MEF-2
- MEF-2A
Genomic Locations for SLC2A1 Gene
Genomic Locations for SLC2A1 Gene
- chr1:42,925,353-42,958,868
- (GRCh38/hg38)
- Size:
- 33,516 bases
- Orientation:
- Minus strand
- chr1:43,391,046-43,424,847
- (GRCh37/hg19)
- Size:
- 33,802 bases
- Orientation:
- Minus strand
Genomic View for SLC2A1 Gene
Genes around SLC2A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p34.2 by HGNC
- 1p34.2 by Entrez Gene
- 1p34.2 by Ensembl
SLC2A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLC2A1 Gene
Proteins for SLC2A1 Gene
-
Protein details for SLC2A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P11166-GTR1_HUMAN
- Recommended name:
- Solute carrier family 2, facilitated glucose transporter member 1
- Protein Accession:
- P11166
- A8K9S6
- B2R620
- D3DPX0
- O75535
- Q0P512
- Q147X2
Protein attributes for SLC2A1 Gene
- Size:
- 492 amino acids
- Molecular mass:
- 54084 Da
- Quaternary structure:
-
- 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).
Protein Expression for SLC2A1 Gene
Post-translational modifications for SLC2A1 Gene
Other Protein References for SLC2A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences SLC2A1 / GLUT-1 Monoclonal Antibody
- NSJ Bioreagents GLUT1 Antibody / SLC2A1 (Recombinant Rabbit Monoclonal)
- Creative Diagnostics Anti-SLC2A1 (aa 478-492) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for SLC2A1
- Novus Biologicals Antibodies for SLC2A1
-
Abcam antibodies for SLC2A1
- Invitrogen Antibodies for SLC2A1 (AFLGC-SLC2A1)
- antibodies-online: Show 95 available GLUT1 Antibodies ranked by validation data
- Compare Top GLUT1 Antibodies
-
Recommended
- 145 WB Antibodies (anti-human)
- 13 IHC (p) Antibodies (anti-human)
- 11 FACS Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 76 WB Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 75 WB Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 1 FACS Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC2A1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC2A1
- Origene Custom Protein Services for SLC2A1
-
Signalway Proteins for SLC2A1
-
Abcam proteins for SLC2A1
Assay Products
- antibodies-online: Show 66 available GLUT1 Elisa Kits ranked by validation data
- Compare Top GLUT1 Elisa Kits
-
Quality Products:
- ABIN6574259
- ABIN1115130
- ABIN416906
- ABIN366948
- ABIN417388
- ABIN1028724
- ABIN5522406
- ABIN5668925
- ABIN5593151
- ABIN509661
- ABIN1562648
- ABIN5522407
- ABIN5669993
- ABIN627864
- ABIN1381170
- ABIN2947836
- ABIN4969487
- ABIN2685485
- ABIN5070293
- ABIN1158819
- ABIN432187
- ABIN431970
- ABIN1570077
- ABIN1562647
- ABIN5522408
- ABIN627049
- ABIN5593152
- ABIN5654619
- ABIN2533870
- ABIN5593150
- ABIN992133
- ABIN1158817
-
Boster Bio ELISA Kits for SLC2A1
-
Signalway ELISA kits for SLC2A1
No data available for DME Specific Peptides for SLC2A1 Gene
Domains & Families for SLC2A1 Gene
Gene Families for SLC2A1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SLC2A1 Gene
- InterPro:
- Blocks:
-
- Mammalian facilitated glucose transporter family signature
- Sugar transporter signature
- Sugar transporter superfamily
- Glucose transporter type 1 (GLUT1) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC2A1 Gene
- GenScript: Design optimal peptide antigens:
-
- HepG2 glucose transporter (GTR1_HUMAN)
- Solute carrier family 2 (Facilitated glucose transporter), member 1 (Q0P512_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P11166UniProtKB/Swiss-Prot:
GTR1_HUMAN :- Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
- Family:
-
- Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Function for SLC2A1 Gene
Molecular function for SLC2A1 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=D-glucose(out) = D-glucose(in); Xref=Rhea:RHEA:60376, ChEBI:CHEBI:4167; Evidence={ECO:0000269|PubMed:10227690, ECO:0000269|PubMed:25982116, ECO:0000269|PubMed:27078104};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=25.6 mM for glucose {ECO:0000269|PubMed:25982116}; KM=50.1 mM for glucose (in presence of TPA) {ECO:0000269|PubMed:25982116};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- 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).
- GENATLAS Biochemistry:
- solute carrier family 2,member A1,facilitated glucose transporter,not associated with susceptibility to NIDDM
Phenotypes From GWAS Catalog for SLC2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005324 | long-chain fatty acid transporter activity | IMP | 10227690 |
| 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 | -- |
Phenotypes for SLC2A1 Gene
- MGI mutant phenotypes for SLC2A1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC2A1:
Animal Models for SLC2A1 Gene
- MGI Knock Outs for SLC2A1:
-
- Slc2a1 Slc2a1<tm1Dcdv>
Animal Model Products
-
Taconic Biosciences Mouse Models for SLC2A1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC2A1 - Select products 50% OFF >
- * SLC2A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC2A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC2A1
miRNA for SLC2A1 Gene
- miRTarBase miRNAs that target SLC2A1
-
- hsa-miR-1262 (MIRT035848)
- hsa-miR-484 (MIRT041808)
- hsa-miR-324-3p (MIRT042866)
- hsa-miR-320a (MIRT044855)
- hsa-miR-149-5p (MIRT045432)
- hsa-miR-3653-5p (MIRT380445)
- hsa-miR-1291 (MIRT438642)
- hsa-miR-4531 (MIRT501120)
- hsa-miR-6842-3p (MIRT501121)
- hsa-miR-5787 (MIRT501122)
- hsa-miR-4505 (MIRT501123)
- hsa-miR-4430 (MIRT501124)
- hsa-miR-3652 (MIRT501125)
- hsa-miR-4745-3p (MIRT501126)
- hsa-miR-1538 (MIRT501127)
- hsa-miR-5703 (MIRT501128)
- hsa-miR-4434 (MIRT501129)
- hsa-miR-4516 (MIRT501130)
- hsa-miR-3135b (MIRT501131)
- hsa-miR-1225-3p (MIRT501132)
- hsa-miR-4638-5p (MIRT501133)
- hsa-miR-4747-3p (MIRT501134)
- hsa-miR-4323 (MIRT501135)
- hsa-miR-3064-5p (MIRT501136)
- hsa-miR-6504-5p (MIRT501137)
- hsa-miR-2909 (MIRT699396)
- hsa-miR-6772-3p (MIRT699397)
- hsa-miR-6514-3p (MIRT699398)
- hsa-miR-1200 (MIRT699399)
- hsa-miR-1296-5p (MIRT699400)
- hsa-miR-6882-3p (MIRT699401)
- hsa-miR-4448 (MIRT699402)
- hsa-miR-4268 (MIRT699403)
- hsa-miR-6811-3p (MIRT699404)
- hsa-miR-214-5p (MIRT699405)
- hsa-miR-7157-3p (MIRT699406)
- hsa-miR-6737-3p (MIRT699407)
- hsa-miR-5008-3p (MIRT699408)
- hsa-miR-6761-5p (MIRT699409)
- hsa-miR-6870-3p (MIRT699410)
- hsa-miR-1914-5p (MIRT699411)
- hsa-miR-544b (MIRT699412)
- hsa-miR-4324 (MIRT699413)
- hsa-miR-4267 (MIRT699414)
- hsa-miR-5586-5p (MIRT699415)
- hsa-miR-3184-3p (MIRT699416)
- hsa-miR-22-3p (MIRT699417)
- hsa-miR-148b-3p (MIRT734315)
- hsa-miR-132-3p (MIRT735435)
- hsa-miR-150-5p (MIRT735450)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC2A1
- Browse OriGene Inhibitory RNA Products For SLC2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC2A1 - Select products 50% OFF >
- * SLC2A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC2A1
- Addgene plasmids for SLC2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC2A1
Cell Line Products
-
Horizon Cell Lines for SLC2A1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC2A1 Gene
Localization for SLC2A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLC2A1 Gene
- Cell membrane. Multi-pass membrane protein. Melanosome. Note=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). {ECO:0000269 PubMed:17081065, ECO:0000269 PubMed:18245775, ECO:0000269 PubMed:19449892, ECO:0000269 PubMed:23219802, ECO:0000269 PubMed:24847886, ECO:0000269 PubMed:25982116}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 4 |
| cytosol | 4 |
| golgi apparatus | 4 |
| mitochondrion | 3 |
| endoplasmic reticulum | 3 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
- Plasma membrane (4)
| 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 | -- |
Pathways & Interactions for SLC2A1 Gene
Pathways by source for SLC2A1 Gene
9 BioSystems pathways for SLC2A1 Gene
14 Reactome pathways for SLC2A1 Gene
1 PharmGKB pathway for SLC2A1 Gene
11 KEGG pathways for SLC2A1 Gene
3 R&D Systems pathways for SLC2A1 Gene
4 Qiagen pathways for SLC2A1 Gene
- AMPK Enzyme Complex Pathway
- Antioxidant Action of Vitamin-C
- Cellular Transformation by HTLV1
- HIF1Alpha Pathway
1 Cell Signaling Technology pathway for SLC2A1 Gene
UniProtKB/Swiss-Prot P11166-GTR1_HUMAN
- Pathway: Carbohydrate degradation.
Interacting Proteins for SLC2A1 Gene
Selected Interacting proteins:
P11166-GTR1_HUMAN
ENSP00000416293
for SLC2A1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SLC2A1
| 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:0007417 | central nervous system development | IMP | 1714544 |
| GO:0007565 | female pregnancy | IEA | -- |
Drugs & Compounds for SLC2A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| D-glucose | Approved, Investigational, Vet_approved | Pharma | Transporter, substrate | 0 | ||
| Vitamin C | Approved | Nutra | Transporter, substrate | 748,748 | ||
| Butabarbital | Approved, Illicit | Pharma | Transporter, inhibitor | 0 | ||
| carboxymethylcellulose | Approved, Investigational | Pharma | Target, binder | 0 | ||
| Dextrose, unspecified form | Approved, Vet_approved | Pharma | Transporter, substrate | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| L-Dehydroascorbic acid |
|
490-83-5 |
|
|
(1) Tocris Compounds for SLC2A1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| L-Dehydroascorbic acid | GLUT1 substrate; oxidized form of L-Ascorbic acid | 490-83-5 |
(3) ApexBio Compounds for SLC2A1 Gene
| 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 |
Transcripts for SLC2A1 Gene
mRNA/cDNA for SLC2A1 Gene
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000372500 533 nts (view in UCSC)
- ENST00000415851 578 nts (view in UCSC)
- ENST00000426263 3362 nts (view in UCSC)
- ENST00000460369 541 nts (view in UCSC)
- ENST00000475162 598 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SLC2A1 - Select products 50% OFF >
- * SLC2A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SLC2A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC2A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC2A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SLC2A1
- Browse OriGene Inhibitory RNA Products For SLC2A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A1
Clone Products
- Applied Biological Materials (abm): Clones for SLC2A1 - Select products 50% OFF >
- * SLC2A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SLC2A1
- Addgene plasmids for SLC2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SLC2A1
| 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: |
Relevant External Links for SLC2A1 Gene
- GeneLoc Exon Structure for
- SLC2A1
Expression for SLC2A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Angioblasts Perineural Capillary Plexus
- Mature Choroid Plexus Cells Choroid Plexus
- Mature Endothelial Cells Blood Brain Barrier
- Choroid Plexus Progenitor Cells Choroid Plexus
- Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Angioblasts Perineural Capillary Plexus
- Mature Endothelial Cells Blood Brain Barrier
- Mature Endothelial Cells Corneal Endothelium
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Blood (Hematopoietic System)
-
Eye (Sensory Organs)
- Mature Endothelial Cells Corneal Endothelium
- Retina
- Trabecular meshwork-derived mesenchymal stem cells
- Pancreas (Endocrine System)
- Epithelial Cells
-
Placenta (Extraembryonic Tissues)
- Syncytiotrophoblast Multinuclear Cells Chorionic Villus
- Villous Cytotrophoblast Cells Chorionic Villus
- Cartilage (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Endoderm (Gastrulation Derivatives)
- Definitive Endoderm Cells Definitive Endoderm
-
Neural Tube (Nervous System)
- Angioblasts Perineural Capillary Plexus
- Primitive Streak (Early Embryonic Tissues)
- Bone (Muscoskeletal System)
- Liver (Hepatobiliary System)
- Mesenchymal Stem Cells
- NULL (Uncategorized)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for SLC2A1 Gene
This gene is overexpressed in Nerve - Tibial (x6.2) and Skin - Not Sun Exposed (Suprapubic) (x4.3).
This gene is overexpressed in Nasal epithelium (27.8), Retina (15.7), and Placenta (10.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC2A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC2A1
SOURCE GeneReport for Unigene cluster for SLC2A1 Gene:
Hs.473721mRNA Expression by UniProt/SwissProt for SLC2A1 Gene:
P11166-GTR1_HUMAN
Tissue specificity:
Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.
Evidence on tissue expression from TISSUES for SLC2A1 Gene
- Nervous system(5)
- Liver(4.9)
- Kidney(4.4)
- Skin(4)
- Intestine(4)
- Pancreas(3.5)
- Eye(3.5)
- Blood(3.3)
- Muscle(3.3)
- Heart(3.3)
- Lung(3.2)
- Bone marrow(3.2)
- Lymph node(2.9)
- Stomach(2.7)
- Spleen(2.6)
- Thyroid gland(2.6)
- Adrenal gland(2.4)
- Bone(2.2)
- Gall bladder(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC2A1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- meninges
- mouth
- neck
- pharynx
Thorax:
- diaphragm
- heart
- lung
Limb:
- foot
- hand
- lower limb
- upper limb
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SLC2A1
-
OriGene qPCR primer pairs and template standards for SLC2A1
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for SLC2A1 Gene
Orthologs for SLC2A1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SLC2A1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SLC2A1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SLC2A1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Slc2a1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Slc2a1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SLC2A1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC2A1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SLC2A1 30 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53301 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | slc2a1a 31 |
|
OneToMany | |
| slc2a1b 30 31 |
|
OneToMany | |||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11901 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sut1 32 |
|
|
|
| CG7882 32 |
|
|
|||
| sut4 32 |
|
|
|||
| Glut1 31 32 |
|
OneToMany | |||
| sut2 32 |
|
|
|||
| sut3 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | H17B01.1a 32 |
|
|
|
| H17B01.1b 32 |
|
|
|||
| fgt-1 31 |
|
ManyToMany | |||
| R09B5.11 31 32 |
|
ManyToMany | |||
| F53H8.3 31 32 |
|
ManyToMany | |||
| K08F9.1 32 |
|
|
|||
| C35A11.4 32 |
|
|
|||
| Y37A1A.3 32 |
|
|
|||
| F48E3.2 32 |
|
|
|||
| Y61A9LA.1 32 |
|
|
|||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL034W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
| VPS73 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7972 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7007 30 |
|
- Species where no ortholog for SLC2A1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for SLC2A1 Gene
- ENSEMBL:
- Gene Tree for SLC2A1 (if available)
- TreeFam:
- Gene Tree for SLC2A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SLC2A1: view image
Paralogs for SLC2A1 Gene
Paralogs for SLC2A1 Gene
(12) SIMAP similar genes for SLC2A1 Gene using alignment to 5 proteins:
- GTR1_HUMAN
- A6NL68_HUMAN
- C9JIM8_HUMAN
- C9JR18_HUMAN
- Q0P512_HUMAN
Pseudogenes.org Pseudogenes for SLC2A1 Gene
Variants for SLC2A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC2A1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 625201 | Pathogenic: Microcephaly; Intellectual disability; Abnormality of metabolism/homeostasis | 42,929,601(-) | T/G | MISSENSE_VARIANT | |
| 625202 | Likely Pathogenic: Intellectual disability | 42,943,233(-) | G/A | MISSENSE_VARIANT | |
| 639507 | Uncertain Significance: GLUT1 deficiency syndrome 1, autosomal recessive | 42,930,847(-) | T/C | MISSENSE_VARIANT | |
| 641951 | Uncertain Significance: GLUT1 deficiency syndrome 1, autosomal recessive | 42,929,978(-) | T/C | MISSENSE_VARIANT | |
| 642063 | Uncertain Significance: GLUT1 deficiency syndrome 1, autosomal recessive | 42,927,786(-) | T/C | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2657422 | CNV | deletion | 23128226 |
| esv3585860 | CNV | loss | 21293372 |
| nsv699 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.56;
12.10% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLC2A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC2A1 Gene
Disorders for SLC2A1 Gene
(107) MalaCards diseases for SLC2A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dystonia 9 |
|
|
| glut1 deficiency syndrome 1 |
|
|
| stomatin-deficient cryohydrocytosis with neurologic defects |
|
|
| glut1 deficiency syndrome 2 |
|
|
| epilepsy, idiopathic generalized 12 |
|
Search SLC2A1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GTR1_HUMAN- 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:0000269 PubMed:10227690, ECO:0000269 PubMed:10980529, ECO:0000269 PubMed:11136715, ECO:0000269 PubMed:11603379, ECO:0000269 PubMed:12325075, ECO:0000269 PubMed:15622525, ECO:0000269 PubMed:19901175, ECO:0000269 PubMed:20129935, ECO:0000269 PubMed:20221955, ECO:0000269 PubMed:20574033, ECO:0000269 PubMed:24847886, ECO:0000269 PubMed:25982116, ECO:0000269 PubMed:30197081}. 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:0000269 PubMed:14605501, ECO:0000269 PubMed:18451999, ECO:0000269 PubMed:19630075, ECO:0000269 PubMed:19798636, ECO:0000269 PubMed:20129935, ECO:0000269 PubMed:20574033, ECO:0000269 PubMed:20621801, ECO:0000269 PubMed:20830593, ECO:0000269 PubMed: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:0000269 PubMed:19798636, ECO:0000269 PubMed:22282645, ECO:0000269 PubMed:23280796, ECO:0000269 PubMed:25982116}. Note=Disease susceptibility is associated with variations 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:0000269 PubMed:21832227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885]: A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder. {ECO:0000269 PubMed:21791420, ECO:0000269 PubMed:22492876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for SLC2A1 Gene
infantile seizures,microcephaly,developmental delay and hypoglycorrhachia,caused by haploinsufficiency of the blood-brain barrier hexose carrier
Additional Disease Information for SLC2A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for SLC2A1 Gene
- Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. (PMID: 21832227) Weber YG … Lerche H (Neurology 2011) 2 3 4
- GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. (PMID: 18451999) Weber YG … Lerche H (The Journal of clinical investigation 2008) 2 3 4
- The GLUT-1 XbaI gene polymorphism is associated with vascular calcifications in nondiabetic uremic patients. (PMID: 18311082) Rufino M … Salido E (Nephron. Clinical practice 2008) 3 23 41
- The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV. (PMID: 14622599) Manel N … Battini JL (Cell 2003) 2 3 23
- Autosomal dominant transmission of GLUT1 deficiency. (PMID: 11136715) Klepper J … Voit T (Human molecular genetics 2001) 3 4 23
ExternalLinks
Products for SLC2A1 Gene
- Custom Antibody ServicesOriGene Antibodies for SLC2A1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Sino Biological Human cDNA Clone for SLC2A1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for SLC2A1
- Novus Biologicals proteins and lysates for SLC2A1
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for SLC2A1
- Abcam proteins for SLC2A1
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- Browse Primary Antibodies
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- Taconic Biosciences Mouse Models for SLC2A1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SLC2A1 (AFLGC-SLC2A1)
- ApexBio compounds for SLC2A1
- VectorBuilder Custom and pre-made DNA vectors for SLC2A1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SLC2A1 (ie. lentivirus, AAV, adenovirus)
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- Addgene plasmids for SLC2A1
- antibodies-online: Show 95 available GLUT1 Antibodies ranked by validation data
- Compare Top GLUT1 Antibodies
- Recommended
- 145 WB Antibodies (anti-human)
- 13 IHC (p) Antibodies (anti-human)
- 11 FACS Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 76 WB Antibodies (anti-mouse)
- 4 IP Antibodies (anti-mouse)
- 1 FACS Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 75 WB Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 4 IP Antibodies (anti-rat)
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- antibodies-online: Show 66 available GLUT1 Elisa Kits ranked by validation data
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- antibodies-online: Show 7 available GLUT1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for SLC2A1
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- Santa Cruz Biotechnology (SCBT) CRISPR for SLC2A1
- Horizon Cell Lines for SLC2A1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SLC2A1
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for SLC2A1
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Sources for SLC2A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
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- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135)