GPI (gen)

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Glukoza fosfat izomeraza

PDB prikaz baziran na 1dqr.
Dostupne strukture
1dqr, 1g98, 1gzd, 1gzv, 1hm5, 1hox, 1iat, 1iri, 1jiq, 1jlh, 1koj, 1n8t, 1nuh, 1xtb
Identifikatori
SimboliGPI; PGI; AMF; GNPI; NLK; PHI; SA-36
Vanjski IDOMIM172400 MGI95797 HomoloGene145 GeneCards: GPI Gene
EC broj5.3.1.9
Pregled RNK izražavanja
PBB GE GPI 208308 s at tn.png
podaci
Ortolozi
VrstaČovekMiš
Entrez282114751
EnsemblENSG00000105220n/a
UniProtP06744n/a
RefSeq (mRNA)NM_000175XM_001004276
RefSeq (protein)NP_000166XP_001004276
Lokacija (UCSC)Chr 19:
39.55 - 39.58 Mb
n/a
PubMed pretraga[1][2]

Glukoza fosfat izomeraza‎, takođe poznata kao GPI, je ljudski protein kodiran GPI genom.[1]

Funkcije[uredi - уреди | uredi izvor]

Ovaj gen pripada GPI familiji čiji članovi kodiraju multifunkcionalne fosfoglukozne izomeraze koje učestvuje u energetskim putevima. Protein kodiran ovim genom je dimerni enzim koji katalizuje reverzibilne izomerizacije glukoze 6-fosfata i fruktoze 6-fosfata.

glukoza 6-fosfat <=> fruktoza 6-fosfat

GPI ima različite funkcije unutar i izvan ćelije. U citoplazmi, ovaj protein učestvuje u glikolizi i glukoneogenezi, dok van ćelije on funkcioniše kao neurotrofilni faktor za kičmene i senzorske neurone. Identičan protein izlučuju ćelije raka. Protein izlučen iz tih ćelija je poznat kao autokrini faktor motiliteta[2]. On stimuliše metastazu.[3] Defekti ovog gena mogu da prouzrokuju nonsferocitnu hemolitičku anemiju, i jaka enzimska deficijencija može biti asocirana sa hydrops fetalis, brzom neonatalnom smrću i neurološkim oštećenjima.[1]

Reference[uredi - уреди | uredi izvor]

  1. 1,0 1,1 "Entrez Gene: GPI glucose phosphate isomerase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2821. 
  2. 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. PMID 17029220. doi:10.1002/path.2069. 
  3. Watanabe H, Takehana K, Date M, Shinozaki T, Raz A (1996-07-01). "Tumor cell autocrine motility factor is the neuroleukin/phosphohexose isomerase polypeptide". Cancer Res. 56 (13): 2960–3. PMID 8674049. 

Literatura[uredi - уреди | uredi izvor]

  • 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. doi:10.1016/0888-7543(90)90212-D. 
  • 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. doi:10.1126/science.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. PMID 2547084. doi:10.1002/jnr.490230212. 
  • 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. doi:10.1126/science.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. PMID 3352745. doi:10.1038/332455a0. 
  • 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. doi:10.1002/ajh.2830090102. 
  • 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. PMID 7545951. doi:10.1006/geno.1994.1233. 
  • 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. PMC 330061. PMID 7989588. doi:10.1172/JCI117597. 
  • 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. doi:10.1093/hmg/2.3.327. 
  • Xu W, Lee P, Beutler E (1996). "Human glucose phosphate isomerase: exon mapping and gene structure.". Genomics 29 (3): 732–9. PMID 8575767. doi:10.1006/geno.1995.9944. 
  • 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. PMID 9446754. doi:10.1006/bcmd.1997.0157. 
  • 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. PMID 9616041. doi:10.1006/bcmd.1998.0170. 
  • 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. doi:10.1007/s004390050849. 
  • 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. doi:10.1016/S0378-1119(99)00056-6. 
  • 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. doi:10.1095/biolreprod62.4.1016. 
  • 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. 

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