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FLASH GENE

Symbol

SLC37A4

contributors: mct - updated : 16-06-2021

HGNC name	solute carrier family 37 (glycerol-6-phosphate transporter), member 4
HGNC id	4061

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG2W congenital disorder of glycosylation, type II W GSD1B glycogen storage disease, type IB GSD1C glycogen storage disease, type IC
Location	11q23.3      Physical location : 118.895.060 - 118.901.616
Synonym name	glucose 6-phosphate translocase 1
	glucose-6-phosphate transporter-1
	microsomal glucose-6-phosphate transporter
	glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2
	microsomal glucose-6-phosphate transporter
	glucose-5-phosphate transporter
	glucose-6-phosphatase, transport (glucose) protein 3
	transformation-related gene 19 protein
Synonym symbol(s)	G6PT1, PRO0685, MGC15729, GSD1d, G6PT2, G6PT3, TRG19, G6PT, GSD1b, GSD1c, TRG-19

DNA

TYPE	functioning gene
STRUCTURE	6.77 kb     9 Exon(s)    single Copie(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (TATA box)
motif	repetitive sequence   ALU
text structure	a TATA box and two main transcriptional start sites
	three ALU sequences (-3400, -2800, -1800nt)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001164278 11 initiation site 2371 NP_001157750 - 451 brain, heart, skeletal muscle 2019 30951856 microsomal transport, 22 additional amino acids between exon 6 and exon 8 isoform 2 NM_001467 9 - 2117 NP_001458 - 429 liver, kidney 2019 30951856 isoform 1 NM_001164277 10 - 2621 NP_001157749 - 429 liver, kidney 2019 30951856 isoform 1 NM_001164279 10 - 2047 NP_001157751 - 356 - 2019 30951856 isoform 3 NM_001164280 8 - 2063 NP_001157752 - 429 liver, kidney 2019 30951856 isoform 1

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 intestine small intestine     highly   liver       moderately Endocrine pancreas       moderately Lymphoid/Immune spleen       moderately   thymus       highly Nervous brain       moderately   nerve cranial nerve     moderately Reproductive female system uterus cervix   moderately Respiratory respiratory tract trachea     highly Urinary kidney         Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Blood/Hematopoietic monocyte Blood/Hematopoietic neutrophil

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	anchored to the endoplasmic reticulum by 10 transmembrane domains
	a C terminal consensus motif for retention in the endoplasmic reticulum

secondary structure

may contain 12 helices (Pan 2009)

HOMOLOGY

interspecies	homolog to rattus Slc37a4 (93.01 pc)
	homolog to murine Slc37a4 (93.01 pc)

intraspecies

homolog to bacterial transporters of monophosphate esters

Homologene

FAMILY	major facilitator (MFS) superfamily
	SLC37A family of transporter

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
text	anchored to the endoplasmic reticulum by 10 transmembrane domains (Pan 2009)

basic FUNCTION	regulating glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis
	also playing a role in the ATP-mediated calcium sequestration in the lumen of the ER
	G6P receptor/sensor (Belkaid 2006)
	endoplasmic reticulum (ER)-associated sugar-phosphate/phosphate (P(i)) exchanger
	transports G6P from the cytoplasm into the ER lumen, working in complex with either glucose-6-phosphatase-alpha or G6Pase-beta to hydrolyze intraluminal G6P to Pi and glucose

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	glucose 6-phosphatase
	participates in the ER-localized pentose phosphate pathway (PPP) by providing Glc-6P to hexose-6-phosphate dehydrogenase (H6PD), which catalyzes the first two reactions of ER-localized PPP generating nicotinamide adenine dinucleotide phosphate (NADPH)

cell & other

REGULATION

inhibited by

lactacystin (G6PT1 is a substrate for proteasome-mediated degradation)

ASSOCIATED DISORDERS

corresponding disease(s)

GSD1B , GSD1C , CDG2W

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation     loss of function substitutions resulting in non functional protein

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain   silencing SLC37A4 induced necrosis and late apoptosis in brain tumor-derived U87 glioma cells

ANIMAL & CELL MODELS

Hnf1a -/- mice have hepatic G6Pase mRNA expression and activity upregulated