catalog number :
MBS1359962
products type :
Recombinant Protein
products full name :
Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
products short name :
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
products name syn :
Abhydrolase domain-containing protein 5; Lipid droplet-binding protein CGI-58
other names :
1-acylglycerol-3-phosphate O-acyltransferase ABHD5; 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; abhydrolase domain containing 5; Abhydrolase domain-containing protein 5; Lipid droplet-binding protein CGI-58
products gene name :
ABHD5
other gene names :
ABHD5; ABHD5; CDS; CGI58; IECN2; NCIE2; NCIE2
uniprot entry name :
ABHD5_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
2-349
sequence :
AAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEE
KMLKCVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLV
LLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRP
RFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGF
LAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPV
WIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRK
YSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAK
RPMLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRP
HSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD
purity :
Greater than 90% as determined by SDS-PAGE.
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
other info2 :
Species: Homo sapiens (Human)
products categories :
Cancer
products description :
Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation.
products references :
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome."
Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.-L., Weissenbach J., Oezguec M., Lathrop M., Prud'homme J.-F., Fischer J.
Am. J. Hum. Genet. 69:1002-1012(2001)
ncbi acc num :
NP_057090.2
ncbi gb acc num :
NM_016006.4
ncbi mol weight :
54.94kD
ncbi pathways :
CDP-diacylglycerol Biosynthesis Pathway (142255); Hormone-sensitive Lipase (HSL)-mediated Triacylglycerol Hydrolysis Pathway (1270009); Lipid Digestion, Mobilization, And Transport Pathway (1270002); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Regulation Of Lipolysis In Adipocytes Pathway (1222950); Triacylglycerol Biosynthesis Pathway (142242)
ncbi summary :
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. [provided by RefSeq, Jul 2008]
uniprot summary :
ABHD5: a lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Colocalized with PLIN and ADFP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA. Defects cause neutral lipid storage disease (NLSD), an autosomal recessive disorder characterized by the excessive accumulation of neutral lipids in multiple tissues, and Chanarin-Dorfman syndrome (CDS), a triglyceride storage disease with impaired long-chain fatty acid oxidation and icthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons. Protein type: Transferase; EC 2.3.1.51; Lipase. Chromosomal Location of Human Ortholog: 3p21. Cellular Component: cytoplasm; cytosol; intracellular membrane-bound organelle; lipid particle; nucleus. Molecular Function: 1-acylglycerol-3-phosphate O-acyltransferase activity; lysophosphatidic acid acyltransferase activity; triacylglycerol lipase activity. Biological Process: cell differentiation; fatty acid metabolic process; phosphatidic acid biosynthetic process; positive regulation of lipoprotein lipase activity; sequestering of lipid; triacylglycerol catabolic process. Disease: Chanarin-dorfman Syndrome
size5 :
0.05 mg (Baculovirus)