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Glucose phosphate isomerase
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| PDB rendering based on 1dqr. | ||||||||||||||
| Available structures: 1dqr, 1g98, 1gzd, 1gzv, 1hm5, 1hox, 1iat, 1iri, 1jiq, 1jlh, 1koj, 1n8t, 1nuh, 1xtb | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbols | GPI; PGI; AMF; GNPI; NLK; PHI; SA-36 | |||||||||||||
| External IDs | OMIM: 172400 MGI: 95797 HomoloGene: 145 | |||||||||||||
| EC number | 5.3.1.9 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2821 | 14751 | ||||||||||||
| Ensembl | ENSG00000105220 | n/a | ||||||||||||
| Uniprot | P06744 | n/a | ||||||||||||
| Refseq | NM_000175 (mRNA) NP_000166 (protein) |
XM_001004276 (mRNA) XP_001004276 (protein) |
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| Location | Chr 19: 39.55 - 39.58 Mb | n/a | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Glucose phosphate isomerase, also known as GPI, is a human protein encoded by the GPI gene.[1]
Contents |
Functions
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.
glucose 6-phosphate <=> fructose 6-phosphate
The protein has different functions inside and outside the cell. In the cytoplasm, the protein is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. The same protein is also secreted by cancer cells, where it is called autocrine motility factor[2] and stimulates metastasis.[3] 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]
See also
References
- ^ a b "Entrez Gene: GPI glucose phosphate isomerase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2821.
- ^ Dobashi Y, Watanabe H, Sato Y, et al. (December 2006). "Differential expression and pathological significance of autocrine motility factor/glucose-6-phosphate isomerase expression in human lung carcinomas". J. Pathol. 210 (4): 431–40. doi:. PMID 17029220.
- ^ Watanabe H, Takehana K, Date M, Shinozaki T, Raz A (01 July 1996). "Tumor cell autocrine motility factor is the neuroleukin/phosphohexose isomerase polypeptide". Cancer Res. 56 (13): 2960–3. PMID 8674049. http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=8674049.
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. doi:. 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. doi:. 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:. 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. doi:. 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:. 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. doi:. 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:. 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. doi:. 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. doi:. PMID 8499925.
- Xu W, Lee P, Beutler E (1996). "Human glucose phosphate isomerase: exon mapping and gene structure.". Genomics 29 (3): 732–9. doi:. 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:. 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:. 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. doi:. 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. doi:. 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. doi:. 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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