AlphaFold predicted structure
ABHD5 · Q8WTS1
Mean pLDDT
87.4/ 100
Confident
349 residues
Confidence breakdown
- Very high(≥ 90)67%
- Confident(70–90)22%
- Low(50–70)4%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ABHD5
Chr 3p21.33abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
- Aliases:
- CGI-58, NCIE2
- MANE:
- ENST00000644371.2
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIchthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomalPalmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomalRhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Dorfman-Chanarin disease
0.82pyogenic granuloma
0.28attention deficit-hyperactivity disorder
0.20hereditary disease
0.19psoriasis
0.18smoking initiation
0.17heart failure
0.15placenta praevia
0.14insomnia
0.13cannabis dependence
0.13
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid (PubMed:18606822). Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion (By similarity)