ABHD5
| edit |
| 1-acilglicerol-3-fosfat O-aciltransferaza | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | ABHD5; CDS; CGI58; IECN2; NCIE2 | ||||||||||
| Vanjski ID | OMIM: 604780 MGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5 Gene | ||||||||||
| EC broj | 2.3.1.51 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
| [[Datoteka:PBB_GE_ABHD5_213805_at_tn.png
• fosfatidinsko kiselinski biosintetički proces |250px]] | |||||||||||
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| 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]
- ↑ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). „CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid”. J Biol Chem 283 (36): 24525–33. DOI:10.1074/jbc.M801783200. PMID 18606822.
- ↑ 2,0 2,1 „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 (Oct 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. DOI:10.1086/324121. PMC 1274347. PMID 11590543.
- Andersson B, Wentland MA, Ricafrente JY i dr.. (1996). „A "double adaptor" method for improved shotgun library construction”. Anal. Biochem. 236 (1): 107–13. DOI:10.1006/abio.1996.0138. PMID 8619474.
- Yu W, Andersson B, Worley KC i dr.. (1997). „Large-Scale Concatenation cDNA Sequencing”. Genome Res. 7 (4): 353–8. DOI:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Lai CH, Chou CY, Ch'ang LY i dr.. (2000). „Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics”. Genome Res. 10 (5): 703–13. DOI:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
- Strausberg RL, Feingold EA, Grouse LH i dr.. (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. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA i dr.. (2004). „The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. DOI:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Schleinitz N, Fischer J, Sanchez A i dr.. (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. DOI:10.1001/archderm.141.6.798. PMID 15967942.
- Lass A, Zimmermann R, Haemmerle G i dr.. (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. DOI:10.1016/j.cmet.2006.03.005. PMID 16679289.
- Yamaguchi T, Omatsu N, Morimoto E i dr.. (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. DOI:10.1194/jlr.M600493-JLR200. PMID 17308334.
- Ben Selma Z, Yilmaz S, Schischmanoff PO i dr.. (2007). „A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome”. J. Invest. Dermatol. 127 (9): 2273–6. DOI:10.1038/sj.jid.5700860. PMID 17495960.
- 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. DOI:10.1051/medsci/20072367575. PMID 17631826.