ABHD5

ABHD5
Identifiers
AliasesABHD5, CDS, CGI58, IECN2, NCIE2, abhydrolase domain containing 5
External IDsMGI: 1914719 HomoloGene: 41088 GeneCards: ABHD5
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 9: 122.35 – 122.38 Mb
PubMed search[1][2]
Wikidata
View/Edit HumanView/Edit Mouse

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.[3][4]

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.[4][5]

Model organisms

Model organisms have been used in the study of ABHD5 function. A conditional knockout mouse line, called Abhd5tm1a(KOMP)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty three tests were carried out on mutant mice but no significant abnormalities were observed.[8]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  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". The Journal of Biological Chemistry. 283 (36): 24525–33. PMC 3259832 Freely accessible. PMID 18606822. doi:10.1074/jbc.M801783200.
  4. 1 2 "Entrez Gene: ABHD5 abhydrolase domain containing 5".
  5. ↑ 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. PMC 1274347 Freely accessible. PMID 11590543. doi:10.1086/324121.
  6. ↑ "Salmonella infection data for Abhd5". Wellcome Trust Sanger Institute.
  7. ↑ "Citrobacter infection data for Abhd5". Wellcome Trust Sanger Institute.
  8. 1 2 3 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.
  9. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ↑ "International Knockout Mouse Consortium".
  11. ↑ "Mouse Genome Informatics".
  12. ↑ 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. PMC 3572410 Freely accessible. PMID 21677750. doi:10.1038/nature10163.
  13. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. PMID 21677718. doi:10.1038/474262a.
  14. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. PMID 17218247. doi:10.1016/j.cell.2006.12.018.
  15. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. PMC 3218837 Freely accessible. PMID 21722353. doi:10.1186/gb-2011-12-6-224.

Further reading

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