NP_057090.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,096 Da
NCBI Official Full Name
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
NCBI Official Synonym Full Names
abhydrolase domain containing 5
NCBI Protein Information
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
UniProt Protein Name
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
UniProt Synonym Protein Names
Abhydrolase domain-containing protein 5; Lipid droplet-binding protein CGI-58
UniProt Synonym Gene Names
UniProt Entry Name
ABHD5_HUMAN
NCBI Summary for ABHD5
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 Comments for ABHD5
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; Lipase; EC 2.3.1.51
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
Research Articles on ABHD5
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-ABHD5 antibody
Pathways associated with anti-ABHD5 antibody
Diseases associated with anti-ABHD5 antibody
Organs/Tissues associated with anti-ABHD5 antibody
|