Human Gene ABHD5 (ENST00000644371.2) from GENCODE V44
Description: Homo sapiens abhydrolase domain containing 5, lysophosphatidic acid acyltransferase (ABHD5), transcript variant 1, mRNA. (from RefSeq NM_016006) RefSeq Summary (NM_016006): 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]. Gencode Transcript: ENST00000644371.2 Gencode Gene: ENSG00000011198.10 Transcript (Including UTRs) Position: hg38 chr3:43,690,938-43,722,725 Size: 31,788 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr3:43,690,993-43,718,532 Size: 27,540 Coding Exon Count: 7
ID:ABHD5_HUMAN DESCRIPTION: RecName: Full=1-acylglycerol-3-phosphate O-acyltransferase ABHD5; EC=2.3.1.51; AltName: Full=Abhydrolase domain-containing protein 5; AltName: Full=Lipid droplet-binding protein CGI-58; FUNCTION: 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. CATALYTIC ACTIVITY: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. SUBUNIT: Interacts with ADRP, PLIN and PNPLA2 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Lipid droplet (By similarity). Note=Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By similarity). TISSUE SPECIFICITY: 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 (at protein level). DEVELOPMENTAL STAGE: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level). INDUCTION: Up-regulated upon keratinocyte differentiation (at protein level). DOMAIN: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate (By similarity). DISEASE: Defects in ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS) [MIM:275630]; also called triglyceride storage disease with impaired long-chain fatty acid oxidation or neutral lipid storage disease with ichthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non- bullous congenital ichthyosiform erythroderma. SIMILARITY: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABHD5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WTS1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006654 phosphatidic acid biosynthetic process GO:0008654 phospholipid biosynthetic process GO:0010891 negative regulation of sequestering of triglyceride GO:0010898 positive regulation of triglyceride catabolic process GO:0030154 cell differentiation
US Server
