SLC37A4 (solute carrier family 37 member 4)

2007-06-01  

Identity

HGNC
SLC37A4
LOCATION
11q23.3
LOCUSID
2542
ALIAS
G6PT1,G6PT2,G6PT3,GSD1b,GSD1c,GSD1d,PRO0685,TRG-19,TRG19

Other Information

Locus ID:

NCBI: 2542
MIM: 602671
HGNC: 4061
Ensembl: ENSG00000137700

Variants:

dbSNP: 2542
ClinVar: 2542
TCGA: ENSG00000137700
COSMIC: SLC37A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137700ENST00000330775U3KPU7
ENSG00000137700ENST00000357590U3KQS2
ENSG00000137700ENST00000538950U3KQL4
ENSG00000137700ENST00000545985U3KPU7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Hexose transportREACTOMER-HSA-189200
Glucose transportREACTOMER-HSA-70153
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
159060922005Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.18
174607772007Necrosis induction in glioblastoma cells reveals a new "bioswitch" function for the MT1-MMP/G6PT signaling axis in proMMP-2 activation versus cell death decision.15
152604722004Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.14
167771012006Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.11
182671202008Silencing of the MT1-MMP/ G6PT axis suppresses calcium mobilization by sphingosine-1-phosphate in glioblastoma cells.9
190081362009Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.8
173542592007Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.5
173542592007Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.5
282247732017Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.4
164351862005Mutation spectrum of type I glycogen storage disease in Hungary.3

Citation

Dessen P

SLC37A4 (solute carrier family 37 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47556/slc37a4