Biomarker: Glut-1

Histology type: benign tumor

Country: China

Region: Wuhan

Followed up time :

Subgroup 1 name : Overexpression in EEC

Subgroup 1 number: 14

Subgroup 2 name: Low expression

Subgroup 2 number: 10

Conclusion: Overexpression of Glut-1 may be useful markers in distinguishing benign hyperplasia from EIN

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : overexpression

Funtion Uniprot: 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).

UniProt ID: P11166

UniProt Link: https://www.uniprot.org/uniprotkb/P11166/entry

Biological function from UniProt: #Sugar transport #Transport

Molecular function from UniProt:

Tissue specificity from UniProt: Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.

Subcellular UniProt: #Cell membrane #Membrane

Alternative name from UniProt:

Catalytic activity: D-glucose(out) = D-glucose(in

Activity regulation: 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).

Recommended name: Solute carrier family 2, facilitated glucose transporter member 1

Gene name from HGNC: SLC2A1 (CSE, DYT18, DYT9, GLUT, GLUT1, HTLVR)

HPA class: Cancer-related genes Disease related genes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets Transporters

AlphaFold DB: P11166

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P11166

HPA link: https://www.proteinatlas.org/ENSG00000117394-SLC2A1

Tissue specificity RNA from HPA: Tissue enhanced (placenta, skin)

Tissue expression from HPA: Cytoplasmic expression most abundant in endothelial and trophoblastic cells.

Single cell type specificity Cell type enhanced (Syncytiotrophoblasts, Cytotrophoblasts, Extravillous trophoblasts, Erythroid cells)

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Plasma membrane (Single cell variability)

Cancer prognostic summary HPA Prognostic marker in renal cancer (unfavorable), liver cancer (unfavorable), pancreatic cancer (unfavorable), lung cancer (unfavorable) and urothelial cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000117394-SLC2A1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000117394-SLC2A1/pathology/endometrial+cancer

Phenotype ID: 606777;612126;614847;601042;608885;

Disease: GLUT1 deficiency syndrome 1 (GLUT1DS1);GLUT1 deficiency syndrome 2 (GLUT1DS2);Epilepsy, idiopathic generalized 12 (EIG12);Dystonia 9 (DYT9);Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN);

Note1: The disease is caused by variants affecting the gene represented in this entry;The disease is caused by variants affecting the gene represented in this entry;Disease susceptibility is associated with variants affecting the gene represented in this entry;The disease is caused by variants affecting the gene represented in this entry;The disease is caused by variants affecting the gene represented in this entry;

OMIM: 138140

OMIM link1: https://www.omim.org/entry/606777;https://www.omim.org/entry/612126;https://www.omim.org/entry/601042;https://www.omim.org/entry/608885;

OMIM link2: https://www.omim.org/entry/138140

HGNC ID: HGNC:11005

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11005