GPI (glucose-6-phosphate isomerase)

2003-02-01  

Identity

HGNC
GPI
LOCATION
19q13.11
LOCUSID
2821
ALIAS
AMF,GNPI,NLK,PGI,PHI,SA-36,SA36
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2821
MIM: 172400
HGNC: 4458
Ensembl: ENSG00000105220

Variants:

dbSNP: 2821
ClinVar: 2821
TCGA: ENSG00000105220
COSMIC: GPI

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105220ENST00000356487P06744
ENSG00000105220ENST00000415930A0A2U3TZU2
ENSG00000105220ENST00000586425K7EQ48
ENSG00000105220ENST00000587384K7ERK8
ENSG00000105220ENST00000587521K7EIL4
ENSG00000105220ENST00000588991P06744
ENSG00000105220ENST00000589399K7ERC6
ENSG00000105220ENST00000589640K7EPY4
ENSG00000105220ENST00000590375K7EP41
ENSG00000105220ENST00000591204K7ENA0
ENSG00000105220ENST00000592144A0A0G2JLI6
ENSG00000105220ENST00000592277K7ELR7
ENSG00000105220ENST00000642240A0A2R8YF08
ENSG00000105220ENST00000647446A0A2R8Y6C7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
Glycolysis / GluconeogenesisKEGGko00010
Pentose phosphate pathwayKEGGko00030
Starch and sucrose metabolismKEGGko00500
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycolysis / GluconeogenesisKEGGhsa00010
Pentose phosphate pathwayKEGGhsa00030
Starch and sucrose metabolismKEGGhsa00500
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Pentose phosphate pathway (Pentose phosphate cycle)KEGGhsa_M00004
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Pentose phosphate pathway (Pentose phosphate cycle)KEGGM00004
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171
GluconeogenesisREACTOMER-HSA-70263
Neutrophil degranulationREACTOMER-HSA-6798695

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
rectum
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
347042342022Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.1
347042342022Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.1
321136812020Autocrine motility factor secreted by HeLa cells inhibits the growth of many cancer cells by regulating AKT/ERK signaling.1
328195712020Secreted phosphoglucose isomerase is a novel biomarker of nonalcoholic fatty liver in mice and humans.2
328596272020Whole-transcriptome Analysis of Fully Viable Energy Efficient Glycolytic-null Cancer Cells Established by Double Genetic Knockout of Lactate Dehydrogenase A/B or Glucose-6-Phosphate Isomerase.9
330739682020Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with Knee Osteoarthritis.0
321136812020Autocrine motility factor secreted by HeLa cells inhibits the growth of many cancer cells by regulating AKT/ERK signaling.1
328195712020Secreted phosphoglucose isomerase is a novel biomarker of nonalcoholic fatty liver in mice and humans.2
328596272020Whole-transcriptome Analysis of Fully Viable Energy Efficient Glycolytic-null Cancer Cells Established by Double Genetic Knockout of Lactate Dehydrogenase A/B or Glucose-6-Phosphate Isomerase.9
330739682020Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with Knee Osteoarthritis.0
310303582019Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.4
313943112019Proteomics analysis of asthenozoospermia and identification of glucose-6-phosphate isomerase as an important enzyme for sperm motility.16
310303582019Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.4
313943112019Proteomics analysis of asthenozoospermia and identification of glucose-6-phosphate isomerase as an important enzyme for sperm motility.16
288038082018Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.8

Citation

Dessen P

GPI (glucose-6-phosphate isomerase)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40737/gene-explorer/gene-fusions/js/web-card-_common.js