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. Ext... See more...

Aliases for GPI Gene

Aliases for GPI Gene

  • Glucose-6-Phosphate Isomerase 2 3 4 5
  • Autocrine Motility Factor 3 4
  • Phosphoglucose Isomerase 3 4
  • Phosphohexose Isomerase 3 4
  • Neuroleukin 3 4
  • EC 5.3.1.9 4 52
  • 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
  • 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 Innate Immune System and Cori Cycle. Gene Ontology (GO) annotations related to this gene include cytokine activity and monosaccharide binding.

UniProtKB/Swiss-Prot Summary for GPI Gene

  • 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 secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility (PubMed:11437381). Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons (PubMed:3352745, PubMed:11004567). It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (PubMed:3352745, PubMed:11004567).

Gene Wiki entry for GPI Gene

Additional gene information for GPI Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH19J034358 Promoter/Enhancer 2.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.1 80 2.5 ZBTB40 ZNF217 CTCF SIN3A NRF1 MYC POLR2G USF1 SP1 PHF8 ENSG00000267219 GPI ZNF181 ENSG00000268947 ZNF30 ENSG00000271049 FAM187B2P ENSG00000248830 KIAA0355 ZNF302
GH19J034364 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +6.6 6618 4 SIN3A NRF1 POLR2G PHF8 ZFX ZNF639 ZNF10 POLR2A ZBTB26 TARDBP GPI ZNF599 LSM14A KIAA0355 ZNF792 ENSG00000268947 PDCD2L lnc-PDCD2L-3 lnc-PDCD2L-4
GH19J034357 Enhancer 0.3 Ensembl 500.7 -1.8 -1779 0.2 SCRT1 SCRT2 ENSG00000267219 GPI lnc-SCGB2B2-131 lnc-PDCD2L-4
GH19J034305 Enhancer 1.2 Ensembl ENCODE 10.9 -46.4 -46392 15.8 ZNF217 ZSCAN5C USF1 RBAK FOS ZNF639 ZNF10 ZIC2 ZBTB10 ZNF423 ZNF599 KIAA0355 LSM14A ZNF302 GPI ZNF181 ZNF30 UBA2 piR-35674-258 RPL29P33
GH19J034231 Enhancer 1 Ensembl ENCODE 10.6 -126.6 -126612 3.5 POLR2G JUND FOS ZNF10 MYC RUNX1 CTBP1 JUN OSR2 NFIC GPI LSM14A HSALNG0125478 NONHSAG025508.2
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPI

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

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 (PubMed:11371164, PubMed:12054796, PubMed:12777791). Monomer in the secreted form (PubMed:11371164, PubMed:12054796, PubMed:12777791).

    Three dimensional structures from OCA and Proteopedia for GPI Gene

    Alternative splice isoforms for GPI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPI Gene

Selected DME Specific Peptides for GPI Gene

P06744:
  • WKGYTGK
  • PYDQYLHR
  • GVELGKQLA
  • QLIHQGT
  • SKTFTTQET
  • QHAFYQL
  • AQTEALM
  • ASKTFTT
  • LPYDQYL
  • LGIWYINCFGCET
  • MVTEALK
  • GTNGQHA
  • FYQLIHQ
  • VFEGNRP
  • NMFEFWD
  • FDQWGVE
  • KMKSFCQRV
  • FEQLLSGAH
  • DYSKNLV
  • GGSDLGP
  • KVKEFGID
  • WGEPGTN
  • GNRPTNSI
  • TTPLEKN
  • STNGLIN
  • DGKDVMP
  • IEPELDGS
  • SNIDGTH
  • HRFAAYFQQG
  • RFNHFSL
  • LALLGIWY
  • LLPHKVF
  • YEHKIFVQG
  • GEPGTNGQH
  • RVRSGDW
  • WVGGRYS
  • VLHVALR
  • MFNGEKIN
  • WDWVGGR
  • GFDNFEQLL
  • DMESNGK
  • SLWSAIGL
  • ALRNRSN
  • TGPIVWG
  • VAKHFVA
  • LAQTEAL
  • DQWGVELGK

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.
  • Glycosylation at Asn91
  • Ubiquitination at Lys12, Lys73, Lys89, Lys124, Lys194, Lys226, Lys234, Lys241, Lys362, Lys423, and Lys466
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

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
  • Predicted secreted proteins

Protein Domains for GPI Gene

Blocks:
  • Phosphoglucose isomerase (PGI)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GPI Gene

GenScript: Design optimal peptide antigens:
  • Glucose-6-phosphate isomerase (B4DG39_HUMAN)
  • Sperm antigen 36 (G6PI_HUMAN)

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:
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 secreted cytokine: acts as an angiogenic factor (AMF) that stimulates endothelial cell motility (PubMed:11437381). Acts as a neurotrophic factor, neuroleukin, for spinal and sensory neurons (PubMed:3352745, PubMed:11004567). It is secreted by lectin-stimulated T-cells and induces immunoglobulin secretion (PubMed:3352745, PubMed:11004567).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=aldehydo-D-glucose 6-phosphate = keto-D-fructose 6-phosphate; Xref=Rhea:RHEA:11816, ChEBI:CHEBI:57579, ChEBI:CHEBI:57584; EC=5.3.1.9; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by erythrose 4-phosphate.
GENATLAS Biochemistry:
glucose phosphate isomerase (neuroleukin),glycolysis,gluconeogenesis,energy pathways

Enzyme Numbers (IUBMB) for GPI Gene

Phenotypes From GWAS Catalog 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,IDA 28803808
GO:0005125 cytokine activity IEA --
GO:0005515 protein binding IPI 27499296
GO:0008083 growth factor activity IEA --
GO:0016853 isomerase 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 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
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 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 TAS,IDA --
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

Pathways by source for GPI Gene

2 GeneGo (Thomson Reuters) pathways for GPI Gene
  • Glycogen metabolism
  • Glycolysis and gluconeogenesis (short map)

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:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IEA --
GO:0005975 carbohydrate metabolic process NAS 8575767
GO:0006094 gluconeogenesis TAS,IEA --
GO:0006096 glycolytic process IBA,IEA 21873635
GO:0006959 humoral immune response TAS 3020690
genes like me logo Genes that share ontologies with GPI: view

Drugs & Compounds for GPI Gene

(31) 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 236
Clopidogrel Approved Pharma P2Y12 receptor antagonist 909
Tirofiban Approved Pharma 43
D-glucose Approved, Investigational, Vet_approved Pharma 0
Glucose 6-phosphate Experimental Pharma Target 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

mRNA/cDNA for GPI Gene

7 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for GPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GPI 31 30
  • 90.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GPI 31 30
  • 90.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gpi1 17 31 30
  • 86.26 (n)
Gm1840 31
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gpi 30
  • 86.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPI 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves GPI 31 30
  • 75.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPI 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpi 30
  • 73.2 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5194 30
zebrafish
(Danio rerio)
Actinopterygii gpia 31 30
  • 75 (a)
OneToMany
gpib 31 30
  • 73.3 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8771 30
fruit fly
(Drosophila melanogaster)
Insecta Pgi 31 32 30
  • 67.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012167 30
  • 66.42 (n)
worm
(Caenorhabditis elegans)
Secernentea Y87G2A.8 32
  • 68 (a)
gpi-1 31 30
  • 62.04 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL249C 30
  • 61.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGI1 33 31 30
  • 57.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23519g 30
  • 57.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G42740 30
  • 52.98 (n)
rice
(Oryza sativa)
Liliopsida Os03g0776000 30
  • 52.36 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.2000 30
corn
(Zea mays)
Liliopsida Zm.3318 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
Cin.3328 30
bread mold
(Neurospora crassa)
Ascomycetes NCU07281 30
  • 62.19 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgi1 30
  • 58.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3328 30
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPI Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
708244 Benign: not provided 34,393,991(+) C/T SYNONYMOUS_VARIANT
711604 Likely Benign: not provided 34,368,617(+) G/A MISSENSE_VARIANT
729702 Likely Benign: not provided 34,393,769(+) A/C MISSENSE_VARIANT
738456 Likely Benign: not provided 34,399,741(+) C/T SYNONYMOUS_VARIANT
740383 Likely Benign: not provided 34,377,737(+) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GPI Gene

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

(21) MalaCards diseases for GPI Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
hemolytic anemia
  • anemia hemolytic
congenital nonspherocytic hemolytic anemia
  • hereditary nonspherocytic hemolytic anemia
glucosephosphate isomerase deficiency
  • glucose phosphate isomerase deficiency
- 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:28803808, 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 23 41 54
  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 23 54
  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 23 54
  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 23 54
  5. Phosphohexose isomerase/autocrine motility factor/neuroleukin/maturation factor is a multifunctional phosphoprotein. (PMID: 11004567) Haga A … Raz A (Biochimica et biophysica acta 2000) 3 4 23 54

Products for GPI Gene

Sources for GPI Gene