Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2821
Gene name Gene Name - the full gene name approved by the HGNC.
Glucose-6-phosphate isomerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPI
Synonyms (NCBI Gene) Gene synonyms aliases
AMF, CNSHA4, GNPI, NLK, PGI, PHI, SA-36, SA36
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product function
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61754634 C>T Pathogenic Coding sequence variant, missense variant
rs137853582 G>A Pathogenic Intron variant, coding sequence variant, missense variant
rs137853583 G>A,T Pathogenic Coding sequence variant, missense variant
rs137853584 T>C,G Pathogenic Coding sequence variant, missense variant
rs137853585 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025482 hsa-miR-34a-5p Proteomics 21566225
MIRT052162 hsa-let-7b-5p CLASH 23622248
MIRT050947 hsa-miR-17-5p CLASH 23622248
MIRT045497 hsa-miR-149-5p CLASH 23622248
MIRT043341 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0001707 Process Mesoderm formation IEA
GO:0002639 Process Positive regulation of immunoglobulin production IDA 3020690
GO:0004347 Function Glucose-6-phosphate isomerase activity IBA
GO:0004347 Function Glucose-6-phosphate isomerase activity IDA 28803808
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172400 4458 ENSG00000105220
Protein
UniProt ID P06744
Protein name Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9) (Autocrine motility factor) (AMF) (Neuroleukin) (NLK) (Phosphoglucose isomerase) (PGI) (Phosphohexose isomerase) (PHI) (Sperm antigen 36) (SA-36)
Protein function In the cytoplasm, catalyzes the conversion of glucose-6-phosphate to fructose-6-phosphate, the second step in glycolysis, and the reverse reaction during gluconeogenesis (PubMed:28803808). Besides it's role as a glycolytic enzyme, also acts as a
PDB 1IAT , 1IRI , 1JIQ , 1JLH , 1NUH , 6XUH , 6XUI , 8BBH , 8P2K , 9FCW , 9FHF , 9FKC , 9FKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00342 PGI 54 546 Phosphoglucose isomerase Domain
Sequence
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
  TP53 Regulates Metabolic Genes
Neutrophil degranulation
Glycolysis
Gluconeogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemolytic Anemia hemolytic anemia due to glucophosphate isomerase deficiency rs137853587, rs267606851, rs267606852, rs267606853, rs774419705, rs137853583, rs137853585, rs137853586 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34040139, 35918384, 37543671, 37626419
Alzheimer Disease Associate 32560738
Aneurysm Stimulate 29929532
Arthritis Rheumatoid Associate 16277670, 28067317
Asthma Associate 36835202
Ataxia Telangiectasia Associate 40118053
Atrophy Inhibit 23326145
beta Thalassemia Associate 19843387
Brain Diseases Associate 30269814
Breast Neoplasms Associate 17690101, 19531650, 21389093, 23248119, 24576828