1. Gene
  2. ABHD5 - abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Gene

ABHD5 - abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Gene

Homo sapiens

Also known as CGI58; IECN2; NCIE2

Gene ID: 51099 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Abhydrolase_6: Alpha/beta hydrolase family (78 - 339)

  • 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 Reference
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

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

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