ABHD5

Abhydrolase domain containing 5
Identifiers
Symbols	ABHD5; CDS; CGI58; IECN2; MGC8731; NCIE2
External IDs	OMIM: 604780 MGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5 Gene
EC number	2.3.1.51
Gene Ontology Molecular function • 1-acylglycerol-3-phosphate O-acyltransferase activity • triglyceride lipase activity • acyltransferase activity • transferase activity • lysophosphatidic acid acyltransferase activity Cellular component • cytoplasm • lipid particle • cytosol Biological process • lipid metabolic process • fatty acid metabolic process • phosphatidic acid biosynthetic process • phospholipid biosynthetic process • negative regulation of sequestering of triglyceride • positive regulation of triglyceride catabolic process • triglyceride catabolic process • cell differentiation • positive regulation of lipoprotein lipase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51099	67469
Ensembl	ENSG00000011198	ENSMUSG00000032540
UniProt	Q8WTS1	Q922Z5
RefSeq (mRNA)	NM_016006	NM_026179.2
RefSeq (protein)	NP_057090	NP_080455.1
Location (UCSC)	Chr 3: 43.73 – 43.78 Mb	Chr 9: 122.26 – 122.29 Mb
PubMed search	[1]	[2]

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.^[1][2][3]

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.^[3]

References

1. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1274347. 
2. ^ 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. 
3. ^ ^{a b} "Entrez Gene: ABHD5 abhydrolase domain containing 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51099. 

Further reading

• Andersson B, Wentland MA, Ricafrente JY et al. (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 et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139146. 
• 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. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310876. 
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• 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. doi:10.1001/archderm.141.6.798. PMID 15967942. 
• 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. doi:10.1016/j.cmet.2006.03.005. PMID 16679289. 
• 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. doi:10.1194/jlr.M600493-JLR200. PMID 17308334. 
• 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. 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.