Alfa 1-antitripsin

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Inhibitor serpinske peptidaze, grupa A (alfa-1 antiproteinaza, antitripsin), član 1

Kristalna struktura serpina A1 (red) u inhibitornom kompleksu sa pankreatičkom elastazom (plavo). Prikaz je baziran na 2D26.
Dostupne strukture
1ATU, 1D5S, 1EZX, 1HP7, 1IZ2, 1KCT, 1OO8, 1OPH, 1PSI, 1QLP, 1QMB, 2D26, 2QUG, 3CWL, 3CWM, 3DRM, 3DRU, 3NDD, 3NDF, 3NE4, 3T1P, 7API, 8API, 9API
Identifikatori
Simboli SERPINA1; A1A; A1AT; AAT; PI; PI1; PRO2275; alpha1AT
Vanjski ID OMIM107400 MGI891971 HomoloGene20103 GeneCards: SERPINA1 Gene
Pregled RNK izražavanja
PBB GE SERPINA1 211429 s at tn.png
PBB GE SERPINA1 202833 s at tn.png
podaci
Ortolozi
Vrsta Čovek Miš
Entrez 5265 20700
Ensembl ENSG00000197249 ENSMUSG00000066366
UniProt P01009 P07758
RefSeq (mRNA) NM_000295 NM_001252569
RefSeq (protein) NP_000286 NP_001239498
Lokacija (UCSC) Chr 14:
94.84 - 94.86 Mb
Chr 12:
103.85 - 103.86 Mb
PubMed pretraga [1] [2]

Alfa 1-antitripsin ili α1-antitripsin (A1AT) je proteazni inhibitor iz serpinske superfamilije. On je generalno poznat kao serumski tripsinski inhibitor. Alfa 1-antitripsin se takođe naziva alfa-1 proteinazni inhibitor (A1PI), jer inhibira širok opseg proteaza.[1] On štiti tkiva od enzima inflamatornih ćelija, posebno neutrofilne elastaze, i ima referentni opseg u krvi od 1,5 - 3,5 gram/litre, mada koncentracija može da bude znatno viša nakon akutne inflamacije.[2] U njegovom odsustvu, neutrofilna elastaza nesmetano razlaže elastin, koji doprinosi elastičnosti pluća, što stvara respiratorne probleme, kao što je emfisema.

Reference[uredi - уреди]

  1. Gettins PG (2002). "Serpin structure, mechanism, and function". Chem Rev 102 (12): 4751–804. DOI:10.1021/cr010170. PMID 12475206. 
  2. Kushner, Mackiewicz A (1993). The acute phase response: an overview.. CRC Press. str. 3–19. 

Literatura[uredi - уреди]

  • Wu Y, Foreman RC (1991). "The molecular genetics of alpha 1 antitrypsin deficiency". Bioessays 13 (4): 163–9. DOI:10.1002/bies.950130404. PMID 1859394. 
  • Kalsheker N (1989). "Alpha 1-antitrypsin: structure, function and molecular biology of the gene". Biosci. Rep. 9 (2): 129–38. DOI:10.1007/BF01115992. PMID 2669992. 
  • Crystal RG (1990). "The alpha 1-antitrypsin gene and its deficiency states". Trends Genet. 5 (12): 411–7. DOI:10.1016/0168-9525(89)90200-X. PMID 2696185. 
  • Carrell RW (1982). "Structure and variation of human alpha 1-antitrypsin". Nature 298 (5872): 329–34. DOI:10.1038/298329a0. PMID 7045697. 
  • Elliott PR, Abrahams JP, Lomas DA (1998). "Wild-type alpha 1-antitrypsin is in the canonical inhibitory conformation". J. Mol. Biol. 275 (3): 419–25. DOI:10.1006/jmbi.1997.1458. PMID 9466920. 
  • Miyamoto Y, Akaike T, Maeda H (2000). "S-nitrosylated human alpha(1)-protease inhibitor". Biochim. Biophys. Acta 1477 (1–2): 90–7. DOI:10.1016/S0167-4838(99)00264-2. PMID 10708851. 
  • Coakley RJ, Taggart C, O'Neill S, McElvaney NG (2001). "Alpha1-antitrypsin deficiency: biological answers to clinical questions". Am. J. Med. Sci. 321 (1): 33–41. DOI:10.1097/00000441-200101000-00006. PMID 11202478. 
  • Lomas DA, Lourbakos A, Cumming SA, Belorgey D (2002). "Hypersensitive mousetraps, alpha1-antitrypsin deficiency and dementia". Biochem. Soc. Trans. 30 (2): 89–92. DOI:10.1042/BST0300089. PMID 12023831. 
  • Kalsheker N, Morley S, Morgan K (2002). "Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin". Biochem. Soc. Trans. 30 (2): 93–8. DOI:10.1042/BST0300093. PMID 12023832. 
  • Perlmutter DH (2003). "Liver injury in α1-antitrypsin deficiency: an aggregated protein induces mitochondrial injury". J. Clin. Invest. 110 (11): 1579–83. DOI:10.1172/JCI16787. PMID 12464659. 
  • Lomas DA, Mahadeva R (2003). "α1-Antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy". J. Clin. Invest. 110 (11): 1585–90. DOI:10.1172/JCI16782. PMID 12464660. 
  • Lisowska-Myjak B (2005). "AAT as a diagnostic tool". Clin. Chim. Acta 352 (1–2): 1–13. DOI:10.1016/j.cccn.2004.03.012. PMID 15653097. 
  • Lomas DA (2005). "Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies". Clinical medicine (London, England) 5 (3): 249–57. PMID 16011217. 
  • Rudnick DA, Perlmutter DH (2005). "Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease". Hepatology 42 (3): 514–21. DOI:10.1002/hep.20815. PMID 16044402. 
  • Mahr AD, Neogi T, Merkel PA (2006). "Epidemiology of Wegener's granulomatosis: Lessons from descriptive studies and analyses of genetic and environmental risk determinants". Clin. Exp. Rheumatol. 24 (2 Suppl 41): S82–91. PMID 16859601. 
  • González-Sagrado M, López-Hernández S, Martín-Gil FJ, et al. (2000). "Alpha1-antitrypsin deficiencies masked by a clinical capillary electrophoresis system (CZE 2000)". Clinical Biochemistry, 33(1):79–80

Vanjske veze[uredi - уреди]