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FLASH GENE

Symbol

SLC2A1

contributors: mct/ - updated : 15-08-2018

HGNC name	solute carrier family 2 (facilitated glucose transporter), member 1
HGNC id	11005

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT18 dystonia 18 DYT9 dystonia 9, choreoathetosis/spasticity, episodic SLC2A1 glucose transporter type 1 deficiency syndrome
Location	1p34.2      Physical location : 43.391.045 - 43.424.847
Synonym name	erythrocyte/HepG2-type glucose transporter 1
	glucose transporter type 1, erythrocyte/brain
	HepG2 glucose transporter
Synonym symbol(s)	GLUT, GLUT1, MGC141895, MGC141896, PED, GLUT1DS

DNA

TYPE	functioning gene
STRUCTURE	33.80 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	two ERK1/2-responsive transcription factors (ELk1 and SRF) mediating FGF21-induced SLC2A1 expression by binding to a highly conserved ETS and SRE cis-element located between &
	8722;3128 and &
	8722;3105 of the promoter

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006516 10 - 3687 NP_006507 - 492 - -

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly   mouth tongue     highly Reproductive female system ovary     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular smooth vessel     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Cardiovascular endothelial cell Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	retina, testis, placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve putative transmembrane segments
	intracellular N and C termini in the cytosol
	a large extracellular loop with a glycosylation site between TM1 and 2, a small and a large intracellular loops, respectively between TM2 and 3 and TM8 and 9, both with the conserved RXGRR motif

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Slc2a1 (96.3pc)
	homolog to rattus Slc2a1 (97.8pc)

Homologene

FAMILY	major facilitator superfamily
	sugar transporter family
	glucose transporter subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	facilitating glucose transporter, major glucose transporter in the blood-brain barrier
	can transport a wide range of aldoses including both pentoses and hexoses
	receptor for HTLV
	may be involved in embryo implantation
	is involved in a relatively early phase of pancreatic carcinogenesis
	may play a critical role in controlling glucose homeostasis of adipose tissue in adipose-specific SCD-deficient conditions
	main glucose transporter in the mammalian blood-brain barrier
	evidence for SLC2A9 and SLC2A12 expression in vascular smooth muscle cells (VSMCs) in conjunction with the previously identified SLC2A1 and SLC2A10
	SLC2A1 and SLC2A8 both transporters are involved in glucose uptake into cis-Golgi, supporting lactose synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

facilitated diffusion transport

text	glucose transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PPARD directly regulated neutral amino acid transporter SLC1A5 and SLC2A1 gene transcription, leading to uptake of glucose and amino acid, activation of MTOR signaling and tumor progression
	TBC1D5 shuttling to autophagosomes during metabolic stress facilitates retromer-dependent SLC2A1 trafficking
	CYGB suppressed key glucose metabolism factors including SLC2A1 and HK2 in TP53-dependent and -independent manners

cell & other

REGULATION

activated by	heat shock (40°C-42&
		8239;°C) that increased GSH levels, expression of glucose transporter SLC2A1, and enzymatic activity and expression of G6PD, the rate-limiting enzyme in the pentose cycle

induced by	FGF21 induced GLUT1 expression through transcriptional activation
		TRAF3 deficiency that led to induction of two proteins important for glucose metabolism, SLC2A1 and HK2

Other	the PDZ-binding motif is critical to promote maximal cytokine-stimulated SLC2A1 cell surface localization and prevent lysosomal degradation in absence of growth factor
	GIPC1 promotes SLC2A1 trafficking to the cell surface
	phosphorylated upon DNA damage, probably by ATM or ATR

ASSOCIATED DISORDERS

corresponding disease(s)

SLC2A1 , DYT18 , DYT9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast carcinoma with poor prognosis           mutations have been found in a family with paroxysmal exertion-induced dyskinesia tumoral     --over   highly expressed in HCC tissues and cell lines, promoting tumorigenesis tumoral     --over   in oral squamous cell carcinomas with poor prognosis tumoral   LOH     is significantly reduced in low-grade oligodendroglial tumors harboring LOH 1p

Susceptibility

to diabetic nephropathy

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas flavonoid apigenin inhibits SLC2A1 expression in pancreatic cancer cells

ANIMAL & CELL MODELS