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FLASH GENE

Symbol

G6PD

contributors: mct - updated : 05-05-2020

HGNC name	glucose-6-phosphate dehydrogenase
HGNC id	4057

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	G6PDD G6PD deficiency
Location	Xq28      Physical location : 153.759.605 - 153.775.787
Synonym symbol(s)	G6PD1
EC.number	1.1.1.49

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene, opposite orientation
text	sharing exon 1 with IKBKG
STRUCTURE	16.18 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
motif	repetitive sequence   ALU
text structure	most in introns 2 and 3

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see F8

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000402 13 splicing 2406 NP_000393 62.3 545 - 2019 31385801 being inactive, but may be processed to the smaller (515 aa) active form NM_001042351 13 splicing 2267 59.1 515 - 2019 31385801 differing in the 5' UTR and CDS compared to variant 1 being the active form NM_001360016 13 - 2223 NP_001346945 - 515 - 2019 31385801

EXPRESSION

Type	ubiquitous

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 esophagus       highly Lymphoid/Immune lymph node       moderately   tonsils       highly Nervous nerve cranial nerve     moderately Reproductive female system breast mammary gland   moderately   male system prostate     moderately Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     predominantly

cell lineage
cell lines
fluid/secretion	highly in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

coding region divided into twelve segments

conjugated

PhosphoP , Other

mono polymer

homomer , dimer , tetramer

HOMOLOGY

interspecies	homolog to rattus G6pdx (93.6 pc)
	homolog to murine G6pdx (93.6 pc)

Homologene

FAMILY

glucose-6-phosphate dehydrogenase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	first step of pentose phosphate, pathway mainly involved in the defense against oxidizing agents through NADPH production
	producing pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power
	decline in the activities of G6PD and CYB5R3 would indicate a decrease in the antioxidant response associated to Red blood cell (RBC) aging
	plays an important role in beta-cell function and survival
	is a reduced nicotinamide adenine dinucleotide phosphate-producing enzyme that plays a key role in cellular reduction/oxidation regulation
	G6PD is highly regulated by many signals that affect transcription, post-translation, intracellular location, and interactions with other protein
	catalyzes the first step of the pentose phosphate pathway, and in erythrocytes, the functionality of the pathway is crucial to protect these cells against oxidative damage
	activation of G6PD by SIRT2 supports the proliferation and clonogenic activity of leukaemia cells
	plays likely an essential role in anti-oxidative defense through producing NADPH
	is a rate-limiting enzyme of the pentose phosphate pathway
	ultimately plays a critical role in macrophage functions used against infectious agent

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

	carbohydrate degradation
	pentose phosphate pathway

a component

acetylation

INTERACTION

DNA

RNA

small molecule	nucleotide,
	NADP

protein	:
	G6PD activity and membrane association are regulated by SRC-mediated tyrosine phosphorylation, which contributes to VEGFA-mediated cellular responses in endothelial cell (EC)
	SRSF3 and SRSF4 bound to the G6PD exonic splicing enhancer (ESE) in exon 12 of the mRNA
	deacetylase SIRT2 promotes NADPH production through deacetylating G6PD at lysine 403 (K403)
	SIRT5-dependent mechanism that regulates cellular NADPH homeostasis and redox potential by promoting IDH2 desuccinylation and G6PD deglutarylation
	mechanistically, PAK4 interacted with G6PD, a rate-limiting enzyme of the pentose phosphate pathway and increased G6PD activity via enhancing MDM2-mediated TP53 ubiquitination degradation

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

ASSOCIATED DISORDERS

corresponding disease(s)

G6PDD

related resource

Favismresearchpapers

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   is a poor prognostic factor in bladder cancer, and the levels of G6PD expression increase with increasing tumor stage constitutional       loss of function significant age-dependent decrease in G6PD activity constitutional       gain of function restores redox balance in endothelial cells exposed to high glucose, which is a potentially important therapeutic target to protect ECs from the deleterious effects of high glucose constitutional       gain of function up-regulation of G6PD in pancreatic beta-cells would induce beta-cell dysregulation through ROS accumulation in the development of type 2 diabetes

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	G6PD may be a novel predictive prognostic marker for lung adenocarcinoma
Therapy target
	System Type Disorder Pubmed immunology infectious   regulation of macrophages via modulation of G6PDH activity appears to provide a novel window for those seeking to develop alternative therapies for the treatment of leishmaniasis cancer urinary   6-aminonicotinamide (6-AN), a competitive G6PD inhibitor, may be a potential therapy for bladder cancer, particularly in cases with high G6PD expression neurology acquired   G6PD may be considered as potential therapeutic target for treatment of ischemic brain injury cancer digestive colon PAK4 and/or G6PD blockage might be a potential therapeutic strategy for colon cancer

ANIMAL & CELL MODELS

G6pd-deficient mice had smaller islets and impaired glucose tolerance compared with control mice, which suggests that G6pd deficiency per se leads to beta-cell dysfunction and death