ABHD5

Abhydrolase domain containing 5
Identifiers
Symbols	ABHD5 ; CDS; CGI58; IECN2; NCIE2
External IDs	OMIM: 604780 MGI: 1914719 HomoloGene: 41088 ChEMBL: 1741206 GeneCards: ABHD5 Gene
EC number	2.3.1.51
Gene ontology Molecular function • 1-acylglycerol-3-phosphate O-acyltransferase activity • triglyceride lipase activity • lysophosphatidic acid acyltransferase activity • carboxylic ester hydrolase activity Cellular component • nucleus • cytoplasm • lipid particle • cytosol • intracellular membrane-bounded organelle Biological process • fatty acid metabolic process • phosphatidic acid biosynthetic process • negative regulation of sequestering of triglyceride • positive regulation of triglyceride catabolic process • triglyceride catabolic process • cell differentiation • small molecule metabolic process • positive regulation of lipoprotein lipase activity • lipid homeostasis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51099	67469
Ensembl	ENSG00000011198	ENSMUSG00000032540
UniProt	Q8WTS1	Q9DBL9
RefSeq (mRNA)	NM_016006	NM_026179
RefSeq (protein)	NP_057090	NP_080455
Location (UCSC)	Chr 3: 43.69 – 43.73 Mb	Chr 9: 122.35 – 122.38 Mb
PubMed search

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

Function

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.^[2][3]

Model organisms

Abhd5 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Salmonella infection	Normal[4]
Citrobacter infection	Normal[5]
All tests and analysis from[6][7]

Model organisms have been used in the study of ABHD5 function. A conditional knockout mouse line, called Abhd5^{tm1a(KOMP)Wtsi[8][9]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[6][13] Twenty three tests were carried out on mutant mice but no significant abnormalities were observed.^[6]

References

1. Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". The Journal of Biological Chemistry 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822.
2. "Entrez Gene: ABHD5 abhydrolase domain containing 5".
3. 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 (Nov 2001). "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome". American Journal of Human Genetics 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347. PMID 11590543.
4. "Salmonella infection data for Abhd5". Wellcome Trust Sanger Institute.
5. "Citrobacter infection data for Abhd5". Wellcome Trust Sanger Institute.
6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
7. Mouse Resources Portal, Wellcome Trust Sanger Institute.
8. "International Knockout Mouse Consortium".
9. "Mouse Genome Informatics".
10. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
11. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
12. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
13. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
• Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF (Jun 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, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R (May 2006). "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome". Cell Metabolism 3 (5): 309–19. doi:10.1016/j.cmet.2006.03.005. PMID 16679289.
• Yamaguchi T, Omatsu N, Morimoto E, Nakashima H, Ueno K, Tanaka T, Satouchi K, Hirose F, Osumi T (May 2007). "CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation". Journal of Lipid Research 48 (5): 1078–89. doi:10.1194/jlr.M600493-JLR200. PMID 17308334.
• Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F (Sep 2007). "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome". The Journal of Investigative Dermatology 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]". Médecine Sciences 23 (6-7): 575–8. doi:10.1051/medsci/20072367575. PMID 17631826.