ABHD5

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.{{cite journal | vauthors = Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J | title = Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome | journal = American Journal of Human Genetics | volume = 69 | issue = 5 | pages = 1002–12 | date = Nov 2001 | pmid = 11590543 | pmc = 1274347 | doi = 10.1086/324121 }}

CGI-58 is known to be a co-activator of adipose triglyceride lipase (ATGL/PNPLA2) that associates with lipid droplets in association with perilipin proteins. Phosphorylation of certain perilipins by protein kinase A causes dissociation of CGI-58 from the perilipins and permits interaction with ATGL. CGI-58 additionally interacts with beclin 1,{{cite journal|vauthors=Peng Y, Miao H, Wu S, Yang W, Zhang Y, Xie G, Xie X, Li J, Shi C, Ye L, Sun W, Wang L, Liang H, Ou J|year=2016|journal=Autophagy|volume=12|issue=11|pages=2167–2182|doi=10.1080/15548627.2016.1217380|doi-access=free|pmid=27559856|pmc=5103361|title=ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2}} and CGI-58 has been shown to promote autophagy in colorectal cancer in a PNPLA2-independent manner.{{cite journal|title=ABHD5 blunts the sensitivity of colorectal cancer to fluorouracil via promoting autophagic uracil yield|journal=Nature Communications|year=2019|vauthors=Ou J, Peng Y, Yang W, Zhang Y, Hao J, Li F, Chen Y, Zhao Y, Xie X, Wu S, Zha L, Luo X, Xie G, Wang L, Sun W, Zhou Q, Li J, Liang H|volume=10|issue=1|page=1078 |id=1078|doi=10.1038/s41467-019-08902-x|pmid=30842415|pmc=6403256|bibcode=2019NatCo..10.1078O |doi-access=free}}

{{reflist}}

• {{UCSC gene info|ABHD5}}

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• {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = Apr 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
• {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = Apr 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
• {{cite journal | vauthors = Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W | title = Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics | journal = Genome Research | volume = 10 | issue = 5 | pages = 703–13 | date = May 2000 | pmid = 10810093 | pmc = 310876 | doi = 10.1101/gr.10.5.703 }}
• {{cite journal | vauthors = Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF | title = Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease | journal = Archives of Dermatology | volume = 141 | issue = 6 | pages = 798–800 | date = Jun 2005 | pmid = 15967942 | doi = 10.1001/archderm.141.6.798 }}
• {{cite journal | vauthors = Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R | title = Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome | journal = Cell Metabolism | volume = 3 | issue = 5 | pages = 309–19 | date = May 2006 | pmid = 16679289 | doi = 10.1016/j.cmet.2006.03.005 | doi-access = free }}
• {{cite journal | vauthors = Yamaguchi T, Omatsu N, Morimoto E, Nakashima H, Ueno K, Tanaka T, Satouchi K, Hirose F, Osumi T | title = CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation | journal = Journal of Lipid Research | volume = 48 | issue = 5 | pages = 1078–89 | date = May 2007 | pmid = 17308334 | doi = 10.1194/jlr.M600493-JLR200 | doi-access = free }}
• {{cite journal | vauthors = Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F | title = A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome | journal = The Journal of Investigative Dermatology | volume = 127 | issue = 9 | pages = 2273–6 | date = Sep 2007 | pmid = 17495960 | doi = 10.1038/sj.jid.5700860 | doi-access = free }}
• {{cite journal | vauthors = Fischer J, Negre-Salvayre A, Salvayre R | title = [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] | journal = Médecine/Sciences | volume = 23 | issue = 6–7 | pages = 575–8 | year = 2007 | pmid = 17631826 | doi = 10.1051/medsci/20072367575 | url = https://www.medecinesciences.org/articles/medsci/pdf/2007/08/medsci2007236-7p575.pdf | doi-access = free }}

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{{Acyltransferases}}

{{DEFAULTSORT:Abhd5}}

Category:Genes mutated in mice

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