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Aliases for GPI Gene

Aliases for GPI Gene

  • Glucose-6-Phosphate Isomerase 2 3 3 5
  • Autocrine Motility Factor 3 4
  • Phosphoglucose Isomerase 3 4
  • Phosphohexose Isomerase 3 4
  • Neuroleukin 3 4
  • SA-36 3 4
  • AMF 3 4
  • NLK 3 4
  • PGI 3 4
  • PHI 3 4
  • Hexose Monophosphate Isomerase 3
  • Glucose Phosphate Isomerase 2
  • Hexosephosphate Isomerase 3
  • Phosphosaccharomutase 3
  • Phosphohexomutase 3
  • Sperm Antigen-36 3
  • Sperm Antigen 36 4
  • Oxoisomerase 3
  • EC 5.3.1.9 4
  • GNPI 3
  • SA36 3

External Ids for GPI Gene

Previous GeneCards Identifiers for GPI Gene

  • GC19P035473
  • GC19P035305
  • GC19P039531
  • GC19P039547
  • GC19P034855
  • GC19P031360

Summaries for GPI Gene

Entrez Gene Summary for GPI 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 functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

GeneCards Summary for GPI Gene

GPI (Glucose-6-Phosphate Isomerase) is a Protein Coding gene. Diseases associated with GPI include Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency and Glucose Phosphate Isomerase Deficiency. Among its related pathways are Gene Expression and Cori Cycle. Gene Ontology (GO) annotations related to this gene include cytokine activity and monosaccharide binding.

UniProtKB/Swiss-Prot for GPI Gene

  • Besides its role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons.

Gene Wiki entry for GPI Gene

Additional gene information for GPI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPI Gene

Genomics for GPI Gene

GeneHancer (GH) Regulatory Elements for GPI Gene

Promoters and enhancers for GPI Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J034364 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.4 +6.6 6618 4 HDGF ATF1 ZNF133 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121 GPI ZNF599 LOC100419842 ENSG00000270544 ENSG00000271171 LINC00904 RPL21P131 LOC100996681 ENSG00000268947 PDCD2L
GH19J034358 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 650.7 +0.1 80 2.5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ENSG00000267219 GPI KIAA0355 LSM14A ZNF792 LOC100419842 ENSG00000271171 LINC00904 ENSG00000270544 LOC100996681
GH19J034316 Enhancer 1.2 Ensembl ENCODE 10.9 -40.9 -40949 4.7 HDGF PKNOX1 ATF1 NEUROD1 SIN3A FEZF1 ZNF2 TCF12 ZNF121 ZNF416 KIAA0355 ZNF599 LSM14A ZNF792 ZNF302 GPI ZNF181 ZNF30 GC19P034326 RPL29P33
GH19J034232 Enhancer 1 Ensembl ENCODE 10.6 -126.3 -126348 1.9 HDAC1 ZNF2 ZNF335 FOS IKZF2 RUNX3 ZNF362 ZEB2 ZFP69B NFIC GPI LSM14A KIAA0355 GC19P034201
GH19J034235 Enhancer 0.6 ENCODE 10.6 -123.1 -123111 1 ZNF362 ZNF792 ZIC2 OSR2 ZFHX2 POLR2A PATZ1 HNF4A FOXP2 EGR2 GPI LSM14A KIAA0355 GC19P034201
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPI gene promoter:
  • ATF-2
  • c-Jun
  • AP-1
  • GR
  • GR-alpha
  • CRE-BP1
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3

Genomic Locations for GPI Gene

Genomic Locations for GPI Gene
chr19:34,359,480-34,402,413
(GRCh38/hg38)
Size:
42,934 bases
Orientation:
Plus strand
chr19:34,850,385-34,893,318
(GRCh37/hg19)
Size:
42,934 bases
Orientation:
Plus strand

Genomic View for GPI Gene

Genes around GPI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPI Gene

Proteins for GPI Gene

  • Protein details for GPI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06744-G6PI_HUMAN
    Recommended name:
    Glucose-6-phosphate isomerase
    Protein Accession:
    P06744
    Secondary Accessions:
    • B4DG39
    • Q9BRD3
    • Q9BSK5
    • Q9UHE6

    Protein attributes for GPI Gene

    Size:
    558 amino acids
    Molecular mass:
    63147 Da
    Quaternary structure:
    • Homodimer in the catalytically active form, monomer in the secreted form.

    Three dimensional structures from OCA and Proteopedia for GPI Gene

    Alternative splice isoforms for GPI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPI Gene

Post-translational modifications for GPI Gene

  • Phosphorylation at Ser-185 by CK2 has been shown to decrease enzymatic activity and may contribute to secretion by a non-classical secretory pathway.
  • ISGylated.
  • Ubiquitination at isoforms=2466, isoforms=2423, isoforms=2362, Lys241, isoforms=2226, Lys194, Lys124, isoforms=289, isoforms=273, and isoforms=212
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPI Gene

Domains & Families for GPI Gene

Gene Families for GPI Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GPI Gene

Graphical View of Domain Structure for InterPro Entry

P06744

UniProtKB/Swiss-Prot:

G6PI_HUMAN :
  • Belongs to the GPI family.
Family:
  • Belongs to the GPI family.
genes like me logo Genes that share domains with GPI: view

Function for GPI Gene

Molecular function for GPI Gene

UniProtKB/Swiss-Prot Function:
Besides its role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons.
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate = D-fructose 6-phosphate.
GENATLAS Biochemistry:
glucose phosphate isomerase (neuroleukin),glycolysis,gluconeogenesis,energy pathways

Enzyme Numbers (IUBMB) for GPI Gene

Gene Ontology (GO) - Molecular Function for GPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004347 glucose-6-phosphate isomerase activity IEA,TAS --
GO:0005125 cytokine activity IEA --
GO:0008083 growth factor activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016866 intramolecular transferase activity IEA --
genes like me logo Genes that share ontologies with GPI: view
genes like me logo Genes that share phenotypes with GPI: view

Human Phenotype Ontology for GPI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPI

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for GPI Gene

Localization for GPI Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPI Gene

Cytoplasm. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPI gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with GPI: view

Pathways & Interactions for GPI Gene

genes like me logo Genes that share pathways with GPI: view

UniProtKB/Swiss-Prot P06744-G6PI_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 2/4.

SIGNOR curated interactions for GPI Gene

Activates:

Gene Ontology (GO) - Biological Process for GPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001707 mesoderm formation IEA --
GO:0005975 carbohydrate metabolic process NAS 8575767
GO:0006094 gluconeogenesis TAS,IEA --
genes like me logo Genes that share ontologies with GPI: view

Drugs & Compounds for GPI Gene

(29) Drugs for GPI Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
Clopidogrel Approved Pharma P2Y12 receptor antagonist 814
Tirofiban Approved Pharma 40
D-glucose Approved, Vet_approved Pharma 0

(28) Additional Compounds for GPI Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphoric acid
  • Fructose-6-phosphate
  • Neuberg ester
  • Fructose 6-phosphoric acid
643-13-0
genes like me logo Genes that share compounds with GPI: view

Transcripts for GPI Gene

Unigene Clusters for GPI Gene

Glucose-6-phosphate isomerase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPI

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPI Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a ·
SP1: - - -
SP2: -
SP3:
SP4: - - - - -
SP5: - -
SP6: - -
SP7:
SP8: - - -
SP9:
SP10:

ExUns: 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:

Relevant External Links for GPI Gene

GeneLoc Exon Structure for
GPI
ECgene alternative splicing isoforms for
GPI

Expression for GPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPI Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GPI Gene



Protein tissue co-expression partners for GPI Gene

NURSA nuclear receptor signaling pathways regulating expression of GPI Gene:

GPI

SOURCE GeneReport for Unigene cluster for GPI Gene:

Hs.466471

Evidence on tissue expression from TISSUES for GPI Gene

  • Heart(5)
  • Liver(5)
  • Nervous system(5)
  • Skin(4.8)
  • Kidney(4.7)
  • Blood(4.6)
  • Eye(4.6)
  • Intestine(4.4)
  • Adrenal gland(4.3)
  • Lung(4.2)
  • Stomach(3.9)
  • Muscle(3.5)
  • Gall bladder(3.4)
  • Pancreas(3.2)
  • Bone marrow(2.6)
  • Spleen(2.5)
  • Thyroid gland(2.5)
  • Saliva(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GPI: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GPI Gene

Orthologs for GPI Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPI 34 33
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPI 34 33
  • 90.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPI 34 33
  • 90.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gpi1 16 34 33
  • 86.26 (n)
Gm1840 34
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gpi 33
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPI 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves GPI 34 33
  • 75.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPI 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpi 33
  • 73.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5194 33
zebrafish
(Danio rerio)
Actinopterygii gpia 34 33
  • 75 (a)
OneToMany
gpib 34 33
  • 73.3 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8771 33
fruit fly
(Drosophila melanogaster)
Insecta Pgi 34 35 33
  • 67.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012167 33
  • 66.42 (n)
worm
(Caenorhabditis elegans)
Secernentea Y87G2A.8 35
  • 68 (a)
gpi-1 34 33
  • 62.04 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL249C 33
  • 61.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGI1 36 34 33
  • 57.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23519g 33
  • 57.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G42740 33
  • 52.98 (n)
rice
(Oryza sativa)
Liliopsida Os03g0776000 33
  • 52.36 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2000 33
corn
(Zea mays)
Liliopsida Zm.3318 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToOne
Cin.3328 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07281 33
  • 62.19 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgi1 33
  • 58.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3328 33
Species where no ortholog for GPI was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPI Gene

ENSEMBL:
Gene Tree for GPI (if available)
TreeFam:
Gene Tree for GPI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPI: view image

Paralogs for GPI Gene

No data available for Paralogs for GPI Gene

Variants for GPI Gene

Sequence variations from dbSNP and Humsavar for GPI Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs137853582 pathogenic, Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] 34,377,575(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs137853583 pathogenic, Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] 34,394,044(+) G/A/T coding_sequence_variant, missense_variant
rs137853584 pathogenic, Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] 34,399,933(+) T/C/G coding_sequence_variant, missense_variant
rs137853585 pathogenic, Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] 34,399,974(+) G/A coding_sequence_variant, missense_variant
rs137853586 pathogenic, Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency, Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470] 34,365,325(+) A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GPI Gene

Variant ID Type Subtype PubMed ID
esv2864 OTHER complex 18987735
esv3644206 CNV loss 21293372
esv6365 CNV loss 19470904
nsv1138697 CNV deletion 24896259
nsv509738 CNV insertion 20534489
nsv953279 CNV deletion 24416366

Variation tolerance for GPI Gene

Residual Variation Intolerance Score: 32.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPI Gene

Human Gene Mutation Database (HGMD)
GPI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPI

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPI Gene

Disorders for GPI Gene

MalaCards: The human disease database

(18) MalaCards diseases for GPI Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
  • hemolytic anemia due to glucophosphate isomerase deficiency
glucose phosphate isomerase deficiency
  • glycosylphosphatidylinositol deficiency
congenital nonspherocytic hemolytic anemia
  • hereditary nonspherocytic hemolytic anemia
hemolytic anemia
  • anemia hemolytic
tooth erosion
  • generalized erosion
- elite association - COSMIC cancer census association via MalaCards
Search GPI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PI_HUMAN
  • Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]: A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. {ECO:0000269 PubMed:7989588, ECO:0000269 PubMed:8499925, ECO:0000269 PubMed:8822952, ECO:0000269 PubMed:8822954, ECO:0000269 PubMed:9446754, ECO:0000269 PubMed:9856489}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GPI Gene

hemolytic anemia,hydrops fetalis

Additional Disease Information for GPI

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GPI: view

Publications for GPI Gene

  1. Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). (PMID: 9446754) Beutler E … Forman L (Blood cells, molecules & diseases 1997) 3 4 22 44 58
  2. Characterization of the 5' end of the gene for human glucose phosphate isomerase (GPI). (PMID: 2387591) Walker JI … Morgan MJ (Genomics 1990) 2 3 4 22 58
  3. Differential regulation of phosphoglucose isomerase/autocrine motility factor activities by protein kinase CK2 phosphorylation. (PMID: 15637053) Yanagawa T … Raz A (The Journal of biological chemistry 2005) 3 4 22 58
  4. Crystal structure of human phosphoglucose isomerase and analysis of the initial catalytic steps. (PMID: 12573240) Cordeiro AT … Thiemann OH (Biochimica et biophysica acta 2003) 3 4 22 58
  5. Cloning of a glucose phosphate isomerase/neuroleukin-like sperm antigen involved in sperm agglutination. (PMID: 10727272) Yakirevich E … Naot Y (Biology of reproduction 2000) 3 4 22 58

Products for GPI Gene

Sources for GPI Gene

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