Human Gene GPI (ENST00000356487.11_12) from GENCODE V47lift37
  Description: glucose-6-phosphate isomerase, transcript variant 7 (from RefSeq NM_001329911.2)
Gencode Transcript: ENST00000356487.11_12
Gencode Gene: ENSG00000105220.17_20
Transcript (Including UTRs)
   Position: hg19 chr19:34,856,101-34,893,318 Size: 37,218 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr19:34,856,172-34,890,941 Size: 34,770 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:34,856,101-34,893,318)mRNA (may differ from genome)Protein (558 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: G6PI_HUMAN
DESCRIPTION: RecName: Full=Glucose-6-phosphate isomerase; Short=GPI; EC=5.3.1.9; AltName: Full=Autocrine motility factor; Short=AMF; AltName: Full=Neuroleukin; Short=NLK; AltName: Full=Phosphoglucose isomerase; Short=PGI; AltName: Full=Phosphohexose isomerase; Short=PHI; AltName: Full=Sperm antigen 36; Short=SA-36;
FUNCTION: Besides it's 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.
CATALYTIC ACTIVITY: D-glucose 6-phosphate = D-fructose 6- phosphate.
PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 2/4.
SUBUNIT: Homodimer in the catalytically active form, monomer in the secreted form.
SUBCELLULAR LOCATION: Cytoplasm. Secreted.
PTM: Phosphorylation at Ser-185 by CK2 has been shown to decrease enzymatic activity and may contribute to secretion by a non- classical secretory pathway.
PTM: ISGylated.
DISEASE: Defects in GPI are the cause of hemolytic anemia non- spherocytic due to glucose phosphate isomerase deficiency (HA- GPID) [MIM:613470]. It is a form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. Severe GPI deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment.
SIMILARITY: Belongs to the GPI family.
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=GPI";
WEB RESOURCE: Name=Wikipedia; Note=Phosphoglucose isomerase entry; URL="http://en.wikipedia.org/wiki/Phosphoglucose_isomerase";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gpi/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GPI
Diseases sorted by gene-association score: hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency* (1650), glucose phosphate isomerase deficiency* (443), hemolytic anemia (46), congenital nonspherocytic hemolytic anemia (34), glucosephosphate isomerase deficiency (19), tooth erosion (18), enamel erosion (18), dentine erosion (17), hydrops fetalis (17), cutaneous leishmaniasis (10), dentin caries (7), opsoclonus-myoclonus syndrome (7), congenital hemolytic anemia (7), root caries (6), acute contagious conjunctivitis (6), chronic intestinal vascular insufficiency (6), gingival disease (5), teeth hard tissue disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 234.29 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 3463.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.3071-0.201 Picture PostScript Text
3' UTR -798.702377-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001672 - G6P_Isomerase
IPR023096 - G6P_Isomerase_C
IPR018189 - Phosphoglucose_isomerase_CS

Pfam Domains:
PF00342 - Phosphoglucose isomerase

SCOP Domains:
53697 - SIS domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1IAT - X-ray MuPIT 1IRI - X-ray MuPIT 1JIQ - X-ray MuPIT 1JLH - X-ray MuPIT 1NUH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P06744
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004347 glucose-6-phosphate isomerase activity
GO:0005125 cytokine activity
GO:0008083 growth factor activity
GO:0016853 isomerase activity
GO:0031625 ubiquitin protein ligase binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0006959 humoral immune response
GO:0007599 hemostasis
GO:0010469 regulation of receptor activity
GO:0010595 positive regulation of endothelial cell migration
GO:0043312 neutrophil degranulation
GO:0051024 positive regulation of immunoglobulin secretion
GO:0061621 canonical glycolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK294396 - Homo sapiens cDNA FLJ56429 complete cds, highly similar to Glucose-6-phosphate isomerase (EC 5.3.1.9).
AK129884 - Homo sapiens cDNA FLJ26374 fis, clone HRT06262, highly similar to Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9).
AF187554 - Homo sapiens sperm antigen-36 mRNA, complete cds.
AK301103 - Homo sapiens cDNA FLJ53666 complete cds, highly similar to Glucose-6-phosphate isomerase (EC 5.3.1.9).
AK293446 - Homo sapiens cDNA FLJ53303 complete cds, highly similar to Glucose-6-phosphate isomerase (EC 5.3.1.9).
BC004982 - Homo sapiens glucose phosphate isomerase, mRNA (cDNA clone MGC:3935 IMAGE:2906270), complete cds.
K03515 - Human neuroleukin mRNA, complete cds.
X16539 - H.sapiens RNA for neuroleukin gene.
DQ892924 - Synthetic construct clone IMAGE:100005554; FLH190888.01X; RZPDo839F0176D glucose phosphate isomerase (GPI) gene, encodes complete protein.
DQ896173 - Synthetic construct Homo sapiens clone IMAGE:100010633; FLH190884.01L; RZPDo839F0166D glucose phosphate isomerase (GPI) gene, encodes complete protein.
KY379509 - Homo sapiens cell line HeLa glucose-6-phosphate isomerase mRNA, complete cds.
AK130102 - Homo sapiens cDNA FLJ26592 fis, clone LNF08050, highly similar to Glucose-6-phosphate isomerase (GPI) (EC 5.3.1.9).
JD461833 - Sequence 442857 from Patent EP1572962.
AB209575 - Homo sapiens mRNA for glucose phosphate isomerase variant protein.
LF371044 - JP 2014500723-A/178547: Polycomb-Associated Non-Coding RNAs.
LF371045 - JP 2014500723-A/178548: Polycomb-Associated Non-Coding RNAs.
MA606621 - JP 2018138019-A/178547: Polycomb-Associated Non-Coding RNAs.
MA606622 - JP 2018138019-A/178548: Polycomb-Associated Non-Coding RNAs.
LF371046 - JP 2014500723-A/178549: Polycomb-Associated Non-Coding RNAs.
LF208022 - JP 2014500723-A/15525: Polycomb-Associated Non-Coding RNAs.
BC006342 - Homo sapiens glucose phosphate isomerase, mRNA (cDNA clone IMAGE:4098234), with apparent retained intron.
AK025421 - Homo sapiens cDNA: FLJ21768 fis, clone COLF7293, highly similar to HUMNLK Human neuroleukin mRNA.
LF371049 - JP 2014500723-A/178552: Polycomb-Associated Non-Coding RNAs.
LF371052 - JP 2014500723-A/178555: Polycomb-Associated Non-Coding RNAs.
LF371054 - JP 2014500723-A/178557: Polycomb-Associated Non-Coding RNAs.
DL492660 - Novel nucleic acids.
BX641158 - Homo sapiens mRNA; cDNA DKFZp686C13233 (from clone DKFZp686C13233).
LF371056 - JP 2014500723-A/178559: Polycomb-Associated Non-Coding RNAs.
LF371058 - JP 2014500723-A/178561: Polycomb-Associated Non-Coding RNAs.
DQ572226 - Homo sapiens piRNA piR-40338, complete sequence.
LF371060 - JP 2014500723-A/178563: Polycomb-Associated Non-Coding RNAs.
JD382668 - Sequence 363692 from Patent EP1572962.
JD114347 - Sequence 95371 from Patent EP1572962.
JD353503 - Sequence 334527 from Patent EP1572962.
JD153437 - Sequence 134461 from Patent EP1572962.
JD495606 - Sequence 476630 from Patent EP1572962.
LF371061 - JP 2014500723-A/178564: Polycomb-Associated Non-Coding RNAs.
LF371062 - JP 2014500723-A/178565: Polycomb-Associated Non-Coding RNAs.
JD290549 - Sequence 271573 from Patent EP1572962.
JD519110 - Sequence 500134 from Patent EP1572962.
JD396186 - Sequence 377210 from Patent EP1572962.
JD409294 - Sequence 390318 from Patent EP1572962.
JD374548 - Sequence 355572 from Patent EP1572962.
JD489164 - Sequence 470188 from Patent EP1572962.
JD489165 - Sequence 470189 from Patent EP1572962.
JD384792 - Sequence 365816 from Patent EP1572962.
JD514058 - Sequence 495082 from Patent EP1572962.
JD514059 - Sequence 495083 from Patent EP1572962.
JD383770 - Sequence 364794 from Patent EP1572962.
JD514058 - Sequence 495082 from Patent EP1572962.
JD514059 - Sequence 495083 from Patent EP1572962.
JD383770 - Sequence 364794 from Patent EP1572962.
JD070024 - Sequence 51048 from Patent EP1572962.
JD070025 - Sequence 51049 from Patent EP1572962.
JD278167 - Sequence 259191 from Patent EP1572962.
JD476875 - Sequence 457899 from Patent EP1572962.
JD397348 - Sequence 378372 from Patent EP1572962.
JD388804 - Sequence 369828 from Patent EP1572962.
JD341411 - Sequence 322435 from Patent EP1572962.
MA606623 - JP 2018138019-A/178549: Polycomb-Associated Non-Coding RNAs.
MA606626 - JP 2018138019-A/178552: Polycomb-Associated Non-Coding RNAs.
MA606629 - JP 2018138019-A/178555: Polycomb-Associated Non-Coding RNAs.
MA606631 - JP 2018138019-A/178557: Polycomb-Associated Non-Coding RNAs.
MA606633 - JP 2018138019-A/178559: Polycomb-Associated Non-Coding RNAs.
MA606635 - JP 2018138019-A/178561: Polycomb-Associated Non-Coding RNAs.
MA606637 - JP 2018138019-A/178563: Polycomb-Associated Non-Coding RNAs.
MA606638 - JP 2018138019-A/178564: Polycomb-Associated Non-Coding RNAs.
MA606639 - JP 2018138019-A/178565: Polycomb-Associated Non-Coding RNAs.
MA443599 - JP 2018138019-A/15525: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5514 - UDP-N-acetyl-D-galactosamine biosynthesis II
PWY-5659 - GDP-mannose biosynthesis
PWY66-399 - gluconeogenesis
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II

BioCarta from NCI Cancer Genome Anatomy Project
h_glycolysisPathway - Glycolysis Pathway

Reactome (by CSHL, EBI, and GO)

Protein P06744 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-70471 alpha-D-glucose 6-phosphate <=> D-fructose 6-phosphate
R-HSA-70475 D-fructose 6-phosphate <=> alpha-D-Glucose 6-phosphate
R-HSA-6798695 Neutrophil degranulation
R-HSA-70171 Glycolysis
R-HSA-70263 Gluconeogenesis
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-168249 Innate Immune System
R-HSA-70326 Glucose metabolism
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-168256 Immune System
R-HSA-71387 Metabolism of carbohydrates
R-HSA-212436 Generic Transcription Pathway
R-HSA-1430728 Metabolism
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B4DG39, ENST00000356487.1, ENST00000356487.10, ENST00000356487.2, ENST00000356487.3, ENST00000356487.4, ENST00000356487.5, ENST00000356487.6, ENST00000356487.7, ENST00000356487.8, ENST00000356487.9, G6PI_HUMAN, GPI , NM_001329911, P06744, Q9BRD3, Q9BSK5, Q9UHE6, uc317zor.1, uc317zor.2
UCSC ID: ENST00000356487.11_12
RefSeq Accession: NM_000175.5
Protein: P06744 (aka G6PI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.