ABHD5

From Wikipedia, the free encyclopedia

Abhydrolase domain containing 5

Identifiers

ABHD5; CDS; CGI58; IECN2; MGC8731; NCIE2

External IDs

OMIM: 604780 MGI: 1914719 HomoloGene: 41088

Gene ontology
Molecular Function:	• aminopeptidase activity • protein binding • hydrolase activity
Cellular Component:	• lipid particle • cytosol
Biological Process:	• proteolysis • aromatic compound metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_016006 (mRNA)
NP_057090 (protein)

NM_026179 (mRNA)
NP_080455 (protein)

Location

Chr 3: 43.71 - 43.74 Mb

Chr 9: 122.2 - 122.23 Mb

Pubmed search

[1]

[2]

Abhydrolase domain containing 5, also known as ABHD5 and Cgi-58, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ABHD5 abhydrolase domain containing 5.

[edit] 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. PMID 9110174.
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. PMID 10810093.
Lefèvre C, Jobard F, Caux F, et al. (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. PMID 11590543.
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. PMID 12477932.
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. PMID 15489334.
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. PMID 17631826.