|
Glucose phosphate isomerase
|
||
 |
||
| PDB rendering based on 1dqr. The Protein Data Bank ( PDB) is a repository for 3-D structural data of Proteins and Nucleic acids These data typically obtained by X-ray crystallography | ||
| 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 | |
| RNA expression pattern | ||
|
|
||
| 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) |
| 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. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent This article is about the Enzyme Commission codes For the European Commission system for coding chemicals see EC-No. The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [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]
See also
References
- ^ a b Entrez Gene: GPI glucose phosphate isomerase. Glucose-6-phosphate isomerase, or phosphoglucose isomerase, is an Enzyme ( that catalyzes the conversion of Glucose-6-phosphate into Fructose-6-phosphate
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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain. The United States National Library of Medicine ( NLM) operated by the United States federal government, is the world's largest Medical library. The public domain is a range of abstract materials &ndash commonly referred to as Intellectual property &ndash which are not owned or controlled by anyone
Dapyx Software network: MP3 Explorer | Ebook Manager | Zenithic