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FLASH GENE

Symbol

ABHD5

contributors: mct/ - updated : 04-09-2018

HGNC name	abhydrolase domain containing 5
HGNC id	21396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NCIE2 non bullous congenital ichthyosiform erythroderma, 2
Location	3p21.33      Physical location : 43.732.374 - 43.764.216
Synonym name	comparative gene identification 58
	comparative gene identification 58, mutated in the Chanarin-Dorfman syndrome
	lipid droplet-binding protein CGI-58
	1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Synonym symbol(s)	CGI-58, IECN2, MGC8731, CDS, CGI58
EC.number	2.3.1.51

DNA

TYPE	functioning gene
STRUCTURE	31.84 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016006 7 - 5370 NP_057090 39 349 - -

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Nervous brain         Reproductive male system testis     highly Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three canonical residues of the catalytic triad with a nucleophile component including asparagine instead of serine
	an acid motif and an histidine at residue 327
	an alpha /beta-hydrolase domain-containing hydrolase/acyltransferase/esterase/lipase and phospholipase motifs

secondary structure

alpha/beta hydrolase fold

HOMOLOGY

interspecies	ortholog to C.elegans gene CGI-58
	homolog to yeast Ict1p

intraspecies

paralog to FLJ1286

Homologene

FAMILY	peptidase S33 family
	ABHD4/ABHD5 subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	involved in cholesterol biosynthesis
	promotes the catabolism of stored fat in adipose and non-adipose tissues, by co-activating the adipose triglyceride lipase (PNPLA2), which hydrolyzes triacylglycerol to yield diacylglycerol and fatty acid
	acting as an acyltransferase, mediating acylation of lysophosphatidic acid
	ABHD5, a protein activator of PNPLA2, coordinates with PLIN1 in controlling basal and stimulated lipolysis
	DGAT1 is involved in the synthesis of triacylglycerol where as ABHD5 is a hydrolase and participates in the fatty acid oxidation process, yet inhibition of both enzymes similarly promotes prostate cancer cell death

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

interaction of ABHD5 and PLIN5 occurs mainly, if not exclusively, on the surface of lipid droplets, and is essential for regulating the activity of PNPLA2 at lipid droplets containing PLIN5

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NCIE2

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	ABHD5, PGRMC1 and FDFT1 are novel markers for sebaceous carcinoma and can reliably distinguish sebaceous neoplasms from non-sebaceous tumors, specifically basal cell carcinoma (BCC) with clear cell features
Therapy target

ANIMAL & CELL MODELS