InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABHD5

Summary

InnateDB Protein

IDBP-373866.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABHD5

Protein Name

abhydrolase domain containing 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000390849

InnateDB Gene

IDBG-28436 (ABHD5)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16679289, ECO:0000269PubMed:18606822, ECO:0000269PubMed:18832586}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:18832586}. Lipid droplet {ECO:0000250}. 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). {ECO:0000250}.

Disease Associations

Chanarin-Dorfman syndrome (CDS) [MIM:275630]: 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. {ECO:0000269PubMed:11590543, ECO:0000269PubMed:17495960}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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). {ECO:0000269PubMed:11590543, ECO:0000269PubMed:18832586}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0042171	lysophosphatidic acid acyltransferase activity

Biological Process

GO:0006508	proteolysis
GO:0006629	lipid metabolic process
GO:0006631	fatty acid metabolic process
GO:0006654	phosphatidic acid biosynthetic process
GO:0010891	negative regulation of sequestering of triglyceride
GO:0010898	positive regulation of triglyceride catabolic process
GO:0019433	triglyceride catabolic process
GO:0030154	cell differentiation
GO:0044281	small molecule metabolic process
GO:0051006	positive regulation of lipoprotein lipase activity