ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

Also Known as ABH4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63874

About ABHD4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,598,300-22,612,963 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues and 12 paralogues. Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues.

Summary

Predicted to enable lysophosphatidic acid Acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

ABHD4 Products (2)

mRNA	Protein	Name
NM_001392009.1	NP_001378938.1	(Lyso)-N-acylphosphatidylethanolamine lipase isoform b
NM_022060.3	NP_071343.2	(Lyso)-N-acylphosphatidylethanolamine lipase isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

ABHD4 Protein Structure

Abhydrolase_6

0
100
200
300
342 a.a.

Protein Preferred Names	Protein Names
(Lyso)-N-acylphosphatidylethanolamine lipase	abhydrolase domain-containing protein 4

ABHD4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABHD4	Q8TB40	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Prey Pooling	32296183
Intra	ABHD4	Q8TB40	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	32296183
Intra	ABHD4	Q8TB40	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Array	32296183
Intra	ABHD4	Q8TB40	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Prey Pooling	32296183
Intra	ABHD4	Q8TB40	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Array	32296183
Intra	ABHD4	Q8TB40	HTATIP2	Homo sapiens	Q9BUP3-3	Validated Y2H	32296183
Intra	ABHD4	Q8TB40	REEP5	Homo sapiens	Q00765	Y2H Array	32296183
Intra	ABHD4	Q8TB40	REEP5	Homo sapiens	Q00765	Y2H Prey Pooling	32296183
Intra	ABHD4	Q8TB40	DERL1	Homo sapiens	Q9BUN8	Validated Y2H	32296183
Intra	ABHD4	Q8TB40	AURKAIP1	Homo sapiens	Q9NWT8	Y2H Prey Pooling	32296183
Intra	ABHD4	Q8TB40	AURKAIP1	Homo sapiens	Q9NWT8	Validated Y2H	32296183
Intra	ABHD4	Q8TB40	AURKAIP1	Homo sapiens	Q9NWT8	Y2H Array	32296183
Intra	ABHD4	Q8TB40	RABAC1	Homo sapiens	Q9UI14	Validated Y2H	32296183
Intra	ABHD4	Q8TB40	PLIN3	Homo sapiens	O60664	Y2H Array	32296183
Intra	ABHD4	Q8TB40	PLIN3	Homo sapiens	O60664	Y2H Prey Pooling	32296183
Intra	ABHD4	Q8TB40	INSIG2	Homo sapiens	Q9Y5U4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ABHD4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76133	ABHD4 Protein, Human (sf9, His)	Q8TB40 (M1-D342)	≥ 80%, as determined by reducing SDS-PAGE.

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
Oliver-Mcfarlane Syndrome	Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome OMCS Long Eyelashes-Intellectual Disability Syndrome Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina Eyelashes, Long, With Mental Retardation Eyelashes Long Mental Retardation Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina Eyelashes, Long With Intellectual Disability Oliver Mcfarlane Syndrome Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature Trichomegaly, Retina Pigmentary Degeneration, Dwarfism Trichomegaly Retina Pigmentary Degeneration Dwarfism

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-164838	ABC47	Inhibitor	99.80%	Unkown
HY-RS00095	ABHD4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20845	Abhd4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27359	Abhd4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ABHD4	VGNC	VGNC:37470
Bos taurus	ABHD4	VGNC	VGNC:25501
Mus musculus	ABHD4	MGD	MGI:1915938
Felis catus	ABHD4	VGNC	VGNC:80774
Rattus norvegicus	ABHD4	RGD	RGD:1311858
Macaca mulatta	ABHD4	VGNC	VGNC:84296
Others	ABHD4	NCBI