ABHD5

1-acilglicerol-3-fosfat O-aciltransferaza
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
Entrez	51099
Ensembl	ENSG00000011198
UniProt	Q8WTS1
RefSeq (mRNA)	NM_016006
RefSeq (protein)	NP_057090
Lokacija (UCSC)	Chr 3:; 43.73 - 43.78 Mb
PubMed pretraga	[1]

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 уреди

^ 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.
^ ^а ^б „Entrez Gene: ABHD5 abhydrolase domain containing 5”.
^ 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  . PMID 11590543. doi:10.1086/324121.

Literatura уреди

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Yu W; Andersson B; Worley KC; et al. (1997). „Large-Scale Concatenation cDNA Sequencing”. Genome Res. 7 (4): 353—8. PMC 139146  . PMID 9110174. doi:10.1101/gr.7.4.353.
Lai CH; Chou CY; Ch'ang LY; et al. (2000). „Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics”. Genome Res. 10 (5): 703—13. PMC 310876  . PMID 10810093. doi:10.1101/gr.10.5.703.
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  . PMID 12477932. doi:10.1073/pnas.242603899.
Gerhard DS; Wagner L; Feingold EA; et al. (2004). „The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121—7. PMC 528928  . PMID 15489334. doi:10.1101/gr.2596504.
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 уреди

[pmid18606822-1] 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.

[entrez-2] а ^б „Entrez Gene: ABHD5 abhydrolase domain containing 5”.

[pmid11590543-3] 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  . PMID 11590543. doi:10.1086/324121.

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