ABHD5 information

ABHD5
Identifiers
Aliases	ABHD5, CDS, CGI58, IECN2, NCIE2, abhydrolase domain containing 5, abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
External IDs	OMIM: 604780; MGI: 1914719; HomoloGene: 41088; GeneCards: ABHD5; OMA:ABHD5 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	43,734,371 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	122,210,589 bp
RNA expression pattern
	Top expressed in
	amniotic fluid; ; skin of thigh; ; blood; ; skin of abdomen; ; islet of Langerhans; ; monocyte; ; minor salivary glands; ; gonad; ; bone marrow; ; right lung;
	Top expressed in
	spermatid; ; granulocyte; ; seminiferous tubule; ; spermatocyte; ; lip; ; brown adipose tissue; ; white adipose tissue; ; esophagus; ; decidua; ; retinal pigment epithelium;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; 1-acylglycerol-3-phosphate O-acyltransferase activity; triglyceride lipase activity; lysophosphatidic acid acyltransferase activity; acyltransferase activity; carboxylic ester hydrolase activity;
Cellular component	lipid droplet; cytoplasm; cytosol;
Biological process	phosphatidic acid biosynthetic process; cell differentiation; lipid metabolism; fatty acid metabolic process; phospholipid biosynthetic process; negative regulation of sequestering of triglyceride; positive regulation of triglyceride catabolic process; positive regulation of lipid catabolic process; positive regulation of lipoprotein lipase activity; lipid homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	51099
	67469
	ENSG00000011198
	ENSMUSG00000032540
	Q8WTS1
	Q9DBL9
	NM_016006; NM_001355186; NM_001365649; NM_001365650
	NM_026179; NM_001359207
	NP_057090; NP_001342115; NP_001352578; NP_001352579
	NP_080455; NP_001346136
	Wikidata
View/Edit Human	View/Edit Mouse

1-acylglycerol-3-phosphate O-acyltransferase ABHD5, also known as comparative gene identification-58 (CGI-58),^[5] is an enzyme that in humans is encoded by the ABHD5 gene.^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000011198 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032540 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Yu L, Li Y, Grisé A, Wang H (2020). "CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis". In Jiang XC (ed.). Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease. Advances in Experimental Medicine and Biology. Vol. 1276. Singapore: Springer. pp. 197–222. doi:10.1007/978-981-15-6082-8_13. ISBN 978-981-15-6081-1. PMC 8063591. PMID 32705602.
^ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". The Journal of Biological Chemistry. 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822.
^ "Entrez Gene: ABHD5 abhydrolase domain containing 5".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000011198 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032540 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[yu2020-5] Yu L, Li Y, Grisé A, Wang H (2020). "CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis". In Jiang XC (ed.). Lipid Transfer in Lipoprotein Metabolism and Cardiovascular Disease. Advances in Experimental Medicine and Biology. Vol. 1276. Singapore: Springer. pp. 197–222. doi:10.1007/978-981-15-6082-8_13. ISBN 978-981-15-6081-1. PMC 8063591. PMID 32705602.

[pmid18606822-6] Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". The Journal of Biological Chemistry. 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMC 3259832. PMID 18606822.

[entrez-7] "Entrez Gene: ABHD5 abhydrolase domain containing 5".

ABHD5 information

and 5 Related for: ABHD5 information

ABHD5

Lipolysis

Ichthyosis

Adipose triglyceride lipase

List of OMIM disorder codes