ABHD5

1-acilglicerol-3-fosfat O-aciltransferaza
Identifikatori
Simboli ABHD5; CDS; CGI58; IECN2; NCIE2
Vanjski ID OMIM: 604780 MGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5 Gene
EC broj 2.3.1.51
Ontologija gena
Molekularna funkcija • 1-acilglicerol-3-fosfat O-aciltransferazna aktivnost
• trigliceridna lipazna aktivnost
• aktivnost lizofosfatidil kiselinske aciltransferaze
Celularna komponenta • lipidna čestica
• citosol
Biološki proces • lipidni metabolički process
• masno kiselinski metabolički proces
• fosfatidinsko kiselinski biosintetički proces
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta Čovek Miš
Entrez 51099 67469
Ensembl ENSG00000011198 ENSMUSG00000032540
UniProt Q8WTS1 Q9DBL9
RefSeq (mRNA) NM_016006 NM_026179
RefSeq (protein) NP_057090 NP_080455
Lokacija (UCSC) Chr 3:
43.73 - 43.78 Mb		 Chr 9:
122.35 - 122.38 Mb
PubMed pretraga [1] [2]

1-acilglicerol-3-fosfat O-aciltransferaza (ABHD5) enzim je koji je kod čoveka kodiran ABHD5 genom.[1][2]

Protein kodiran ovom genom pripada velikoj familiji proteina definisanih alfa/beta hidrolaznim savijanjem, i sadrži tri sekventna motiva koji odgovaraju katalitičkoj trijadi prisutnoj u esteraznoj/lipaznoj/tioesteraznoj potfamiliji. On se razlikuje od drugih članova ove potfamilje po tome što njegova katalitička trijada sadrži asparagin umesto serina. Mutacije ovog gena su povezane sa Čanarin-Dorfmanovim sindromom, bolešću trigliceridnog skladišta praćenu umanjenom oksidaciom dugolančanih masnih kiselina.[2][3]

Reference

  1. ^ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (2008). „CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid”. J Biol Chem. 283 (36): 24525—33. PMID 18606822. doi:10.1074/jbc.M801783200. 
  2. ^ а б „Entrez Gene: ABHD5 abhydrolase domain containing 5”. 
  3. ^ Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J (2001). „Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome”. Am J Hum Genet. 69 (5): 1002—12. PMC 1274347 Слободан приступ. PMID 11590543. doi:10.1086/324121. 

Literatura

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  • Strausberg RL; Feingold EA; Grouse LH; et al. (2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899—903. PMC 139241 Слободан приступ. PMID 12477932. doi:10.1073/pnas.242603899. 
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  • Schleinitz N; Fischer J; Sanchez A; et al. (2005). „Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease”. Archives of dermatology. 141 (6): 798—800. PMID 15967942. doi:10.1001/archderm.141.6.798. 
  • Lass A; Zimmermann R; Haemmerle G; et al. (2007). „Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome”. Cell Metab. 3 (5): 309—19. PMID 16679289. doi:10.1016/j.cmet.2006.03.005. 
  • Yamaguchi T; Omatsu N; Morimoto E; et al. (2007). „CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation”. J. Lipid Res. 48 (5): 1078—89. PMID 17308334. doi:10.1194/jlr.M600493-JLR200. 
  • Ben Selma Z; Yilmaz S; Schischmanoff PO; et al. (2007). „A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome”. J. Invest. Dermatol. 127 (9): 2273—6. PMID 17495960. doi:10.1038/sj.jid.5700860. 
  • Fischer J, Negre-Salvayre A, Salvayre R (2007). „[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]”. Med Sci (Paris). 23 (6–7): 575—8. PMID 17631826. doi:10.1051/medsci/20072367575. 
  • Nicholas C. Price; Lewis Stevens (1999). Fundamentals of Enzymology: The Cell and Molecular Biology of Catalytic Proteins (Third изд.). USA: Oxford University Press. ISBN 019850229X. 
  • Eric J. Toone (2006). Advances in Enzymology and Related Areas of Molecular Biology, Protein Evolution (Volume 75 изд.). Wiley-Interscience. ISBN 0471205036. 
  • Branden C; Tooze J. Introduction to Protein Structure. New York, NY: Garland Publishing. ISBN 0-8153-2305-0. 
  • Irwin H. Segel. Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State Enzyme Systems (Book 44 изд.). Wiley Classics Library. ISBN 0471303097. 

Spoljašnje veze

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2.3.1: osim amino-acilne grupe2.3.2: Aminoaciltransferaze2.3.3: konverzija u alkil pri transferu
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