GPI (gene)

From Wikipedia, the free encyclopedia

Glucose phosphate isomerase

PDB rendering based on 1dqr.

Available structures: 1dqr, 1g98, 1gzd, 1gzv, 1hm5, 1hox, 1iat, 1iri, 1jiq, 1jlh, 1koj, 1n8t, 1nuh, 1xtb

Identifiers

Symbol(s)

GPI; PGI; AMF; GNPI; NLK; PHI; SA-36

External IDs

OMIM: 172400 MGI: 95797 HomoloGene: 145

EC number

5.3.1.9

Gene ontology
Molecular Function:	• glucose-6-phosphate isomerase activity • cytokine activity • growth factor activity • isomerase activity
Cellular Component:	• extracellular space
Biological Process:	• carbohydrate metabolic process • gluconeogenesis • glycolysis • humoral immune response • nervous system development • hemostasis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000175 (mRNA)
NP_000166 (protein)

XM_001004276 (mRNA)
XP_001004276 (protein)

Location

Chr 19: 39.55 - 39.58 Mb

n/a

Pubmed search

[1]

[2]

Glucose phosphate isomerase, also known as GPI, is a human gene.^[1]

This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. 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.^[1]

[edit] See also

Glucose-6-phosphate isomerase

[edit] References

^ ^a ^b Entrez Gene: GPI glucose phosphate isomerase.

[edit] Further reading

Kugler W, Lakomek M (2000). "Glucose-6-phosphate isomerase deficiency.". Baillieres Best Pract. Res. Clin. Haematol. 13 (1): 89–101. PMID 10916680.
Walker JI, Faik P, Morgan MJ (1990). "Characterization of the 5' end of the gene for human glucose phosphate isomerase (GPI).". Genomics 7 (4): 638–43. PMID 2387591.
Brownstein BH, Silverman GA, Little RD, et al. (1989). "Isolation of single-copy human genes from a library of yeast artificial chromosome clones.". Science 244 (4910): 1348–51. PMID 2544027.
Mizrachi Y (1989). "Neurotrophic activity of monomeric glucophosphoisomerase was blocked by human immunodeficiency virus (HIV-1) and peptides from HIV-1 envelope glycoprotein.". J. Neurosci. Res. 23 (2): 217–24. doi:10.1002/jnr.490230212. PMID 2547084.
Gurney ME, Apatoff BR, Spear GT, et al. (1986). "Neuroleukin: a lymphokine product of lectin-stimulated T cells.". Science 234 (4776): 574–81. PMID 3020690.
Faik P, Walker JI, Redmill AA, Morgan MJ (1988). "Mouse glucose-6-phosphate isomerase and neuroleukin have identical 3' sequences.". Nature 332 (6163): 455–7. doi:10.1038/332455a0. PMID 3352745.
Zanella A, Izzo C, Rebulla P, et al. (1981). "The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia.". Am. J. Hematol. 9 (1): 1–11. PMID 7435496.
Faik P, Walker JI, Morgan MJ (1994). "Identification of a novel tandemly repeated sequence present in an intron of the glucose phosphate isomerase (GPI) gene in mouse and man.". Genomics 21 (1): 122–7. doi:10.1006/geno.1994.1233. PMID 7545951.
Xu W, Beutler E (1995). "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.". J. Clin. Invest. 94 (6): 2326–9. PMID 7989588.
Walker JI, Layton DM, Bellingham AJ, et al. (1993). "DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.". Hum. Mol. Genet. 2 (3): 327–9. PMID 8499925.
Xu W, Lee P, Beutler E (1996). "Human glucose phosphate isomerase: exon mapping and gene structure.". Genomics 29 (3): 732–9. doi:10.1006/geno.1995.9944. PMID 8575767.
Baronciani L, Zanella A, Bianchi P, et al. (1996). "Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia.". Blood 88 (6): 2306–10. PMID 8822952.
Kanno H, Fujii H, Hirono A, et al. (1996). "Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.". Blood 88 (6): 2321–5. PMID 8822954.
Beutler E, West C, Britton HA, et al. (1998). "Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).". Blood Cells Mol. Dis. 23 (3): 402–9. doi:10.1006/bcmd.1997.0157. PMID 9446754.
Kanno H, Fujii H, Miwa S (1998). "Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency.". Blood Cells Mol. Dis. 24 (1): 54–61. doi:10.1006/bcmd.1998.0170. PMID 9616041.
Kugler W, Breme K, Laspe P, et al. (1998). "Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.". Hum. Genet. 103 (4): 450–4. PMID 9856489.
Belyaeva OV, Balanovsky OP, Ashworth LK, et al. (1999). "Fine mapping of a polymorphic CA repeat marker on human chromosome 19 and its use in population studies.". Gene 230 (2): 259–66. PMID 10216265.
Yakirevich E, Naot Y (2000). "Cloning of a glucose phosphate isomerase/neuroleukin-like sperm antigen involved in sperm agglutination.". Biol. Reprod. 62 (4): 1016–23. PMID 10727272.
Haga A, Niinaka Y, Raz A (2000). "Phosphohexose isomerase/autocrine motility factor/neuroleukin/maturation factor is a multifunctional phosphoprotein.". Biochim. Biophys. Acta 1480 (1-2): 235–44. PMID 11004567.