GPI (gen)

Izvor: Wikipedija
Prijeđi na navigaciju Prijeđi na pretragu
edit
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
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 | uredi kod]

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 | uredi kod]

Literatura[uredi | uredi kod]

  • 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:10.1016/0888-7543(90)90212-D. 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:10.1126/science.2544027. 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. DOI:10.1126/science.3020690. 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. DOI:10.1002/ajh.2830090102. 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. DOI:10.1172/JCI117597. PMC 330061. 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:10.1093/hmg/2.3.327. 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. DOI:10.1007/s004390050849. 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:10.1016/S0378-1119(99)00056-6. 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:10.1095/biolreprod62.4.1016. 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. 

Vidi još[uredi | uredi kod]