ABHD5 - abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Gene

Also Known as CGI58; IECN2; NCIE2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51099

About ABHD5

Cytogenetic location: 3p21.33 Genomic coordinates (GRCh38): 3:43,690,870-43,734,371 (from NCBI)

This gene has 16 transcripts (splice variants), 291 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 12.2), bone marrow (RPKM 10.6) and 25 other tissues.

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]

ABHD5 Products (4)

mRNA	Protein	Name
NM_001355186.2	NP_001342115.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a
NM_001365649.1	NP_001352578.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform b
NM_001365650.1	NP_001352579.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform c
NM_016006.6	NP_057090.2	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA IDA: Inferred from direct assay	18606822	GOA
enables lysophosphatidic acid acyltransferase activity	IDA IDA: Inferred from direct assay	18606822	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of sequestering of triglyceride	IDA IDA: Inferred from direct assay	16679289	GOA
involved in phosphatidic acid biosynthetic process	IDA IDA: Inferred from direct assay	18606822	GOA
involved in positive regulation of triglyceride catabolic process	IDA IDA: Inferred from direct assay	16679289	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lipid droplet	IDA IDA: Inferred from direct assay	21498505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABHD5 Protein Structure

Abhydrolase_6

0
100
200
300
349 a.a.

Protein Preferred Names	Protein Names
1-acylglycerol-3-phosphate O-acyltransferase ABHD5	abhydrolase domain-containing protein 5

ABHD5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABHD5	Q8WTS1	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	PLIN2	Homo sapiens	Q99541	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	PLIN3	Homo sapiens	O60664	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	PLIN3	Homo sapiens	O60664	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	MIEF1	Homo sapiens	Q9NQG6	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

ABHD5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81363	ABHD5 Antibody (YA1108)	IHC-P	Human
HY-P81363A	ABHD5 Antibody (YA1108)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Lipodystrophy, Familial Partial, Type 4	FPLD4 Plin1-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 4 Familial Partial Lipodystrophy Associated With Plin1 Mutations Plin1-Related Fpld Lipodystrophy, Familial Partial, Associated With Plin1 Mutations Lipodystrophy, Familial Partial, 4
Ichthyosis, Congenital, Autosomal Recessive 2	Autosomal Recessive Congenital Ichthyosis 2 ARCI2 Ncie1 Ichthyosiform Erythroderma, Congenital Collodion Baby, Self-Healing Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly Ncie1, Formerly Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form Nonbullous Congenital Ichthyosiform Erythroderma 1 Cie Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form Iecn1 Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive, Type 2 Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Myopathy	Muscular Diseases Myopathies
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Lysosomal Acid Lipase Deficiency	Wolman Disease Cholesteryl Ester Storage Disease Lal Deficiency Lipa Deficiency Cholesterol Ester Storage Disease CESD Cholesterol Ester Hydrolase Deficiency Acid Lipase Deficiency Acid Esterase Deficiency Familial Xanthomatosis Wolman Xanthomatosis Wolman'S Disease Wolman'S Or Triglyceride Storage Type Iii Disease Xanthomatosis, Familial Liposomal Acid Lipase Deficiency, Wolman Type Familial Visceral Xanthomatosis Primary Familial Xanthomatosis Primary Familial Xanthomatosis With Adrenal Calcification Acid Lipase Disease WOD Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Muscular Dystrophy, Congenital, Megaconial Type	Megaconial Type Congenital Muscular Dystrophy Congenital Megaconial Myopathy Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities Megaconial Congenital Muscular Dystrophy MDCMC Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities Megaconial Congénital Muscular Dystrophy Dystrophy, Muscular, Congenital, Megaconial Type
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Lysosomal And Lipase Deficiency
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111952	SR-4995		98.26%	Unkown
HY-111953	SR-4559		98.81%	Unkown
HY-RS00096	ABHD5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20356	Abhd5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26865	Abhd5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ABHD5	VGNC	VGNC:25502
Mus musculus	ABHD5	MGD	MGI:1914719
Canis familiaris	ABHD5	VGNC	VGNC:37471
Rattus norvegicus	ABHD5	RGD	RGD:1303237
Felis catus	ABHD5	VGNC	VGNC:97337
Macaca mulatta	ABHD5	VGNC	VGNC:81174
Others	ABHD5	NCBI