GPI (glucose-6-phosphate isomerase)

2003-02-01 Affiliation

Identity

HGNC

GPI

LOCATION

19q13.11

LOCUSID

2821

ALIAS

AMF,GNPI,NLK,PGI,PHI,SA-36,SA36

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105220	ENST00000356487	P06744
ENSG00000105220	ENST00000415930	A0A2U3TZU2
ENSG00000105220	ENST00000586425	K7EQ48
ENSG00000105220	ENST00000587384	K7ERK8
ENSG00000105220	ENST00000587521	K7EIL4
ENSG00000105220	ENST00000588991	P06744
ENSG00000105220	ENST00000589399	K7ERC6
ENSG00000105220	ENST00000589640	K7EPY4
ENSG00000105220	ENST00000590375	K7EP41
ENSG00000105220	ENST00000591204	K7ENA0
ENSG00000105220	ENST00000592144	A0A0G2JLI6
ENSG00000105220	ENST00000592277	K7ELR7
ENSG00000105220	ENST00000642240	A0A2R8YF08
ENSG00000105220	ENST00000647446	A0A2R8Y6C7

Expression (GTEx)

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

Pathway	Source	External ID
Glycolysis / Gluconeogenesis	KEGG	ko00010
Pentose phosphate pathway	KEGG	ko00030
Starch and sucrose metabolism	KEGG	ko00500
Amino sugar and nucleotide sugar metabolism	KEGG	ko00520
Glycolysis / Gluconeogenesis	KEGG	hsa00010
Pentose phosphate pathway	KEGG	hsa00030
Starch and sucrose metabolism	KEGG	hsa00500
Amino sugar and nucleotide sugar metabolism	KEGG	hsa00520
Metabolic pathways	KEGG	hsa01100
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate	KEGG	hsa_M00001
Pentose phosphate pathway (Pentose phosphate cycle)	KEGG	hsa_M00004
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate	KEGG	M00001
Pentose phosphate pathway (Pentose phosphate cycle)	KEGG	M00004
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Glycolysis	REACTOME	R-HSA-70171
Gluconeogenesis	REACTOME	R-HSA-70263
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34704234	2022	Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.	1
34704234	2022	Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.	1
32113681	2020	Autocrine motility factor secreted by HeLa cells inhibits the growth of many cancer cells by regulating AKT/ERK signaling.	1
32819571	2020	Secreted phosphoglucose isomerase is a novel biomarker of nonalcoholic fatty liver in mice and humans.	2
32859627	2020	Whole-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
33073968	2020	Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with Knee Osteoarthritis.	0
32113681	2020	Autocrine motility factor secreted by HeLa cells inhibits the growth of many cancer cells by regulating AKT/ERK signaling.	1
32819571	2020	Secreted phosphoglucose isomerase is a novel biomarker of nonalcoholic fatty liver in mice and humans.	2
32859627	2020	Whole-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
33073968	2020	Elevated Serum Glucose-6-Phosphate Isomerase Level in Patients with Knee Osteoarthritis.	0
31030358	2019	Glucose 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
31394311	2019	Proteomics analysis of asthenozoospermia and identification of glucose-6-phosphate isomerase as an important enzyme for sperm motility.	16
31030358	2019	Glucose 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
31394311	2019	Proteomics analysis of asthenozoospermia and identification of glucose-6-phosphate isomerase as an important enzyme for sperm motility.	16
28803808	2018	Two 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/meetings/css/lib/dataTables.bootstrap.min.css