ABHD5

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Abhydrolase domain containing 5
Identifiers
Symbols ABHD5 ; CDS; CGI58; IECN2; NCIE2
External IDs OMIM604780 MGI1914719 HomoloGene41088 ChEMBL: 1741206 GeneCards: ABHD5 Gene
EC number 2.3.1.51
RNA expression pattern
PBB GE ABHD5 213805 at tn.png
PBB GE ABHD5 218739 at tn.png
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:
43.73 – 43.78 Mb
Chr 9:
122.35 – 122.38 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]

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[edit]

Model organisms have been used in the study of ABHD5 function. A conditional knockout mouse line, called Abhd5tm1a(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[edit]

  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". J Biol Chem 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822. 
  2. ^ a b "Entrez Gene: ABHD5 abhydrolase domain containing 5". 
  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 (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. 
  4. ^ "Salmonella infection data for Abhd5". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Abhd5". Wellcome Trust Sanger Institute. 
  6. ^ a b c 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, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (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.  edit
  11. ^ Dolgin E (June 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 (January 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 Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]