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FLASH GENE
Symbol ABHD5 contributors: mct/ - updated : 06-06-2011
HGNC name abhydrolase domain containing 5
HGNC id 21396
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
    Physical map
    NKTR 3p23-p21 natural killer-tumor recognition sequence KIAA1190 3p21.33 hypothetical protein KIAA1190 KBTBD5 3p21.33 kelch repeat and BTB (POZ) domain containing 5 KIAA1173 3p21.33 KIAA1173 protein FLJ25467 3p21.33 hypothetical protein FLJ25467 HIG1 3p21.33 likely ortholog of mouse hypoxia induced gene 1 CCBP2 3p21.32-p21.31 chemokine binding protein 2 CYP8B1 3p22-p21.3 cytochrome P450, family 8, subfamily B, polypeptide 1 LOC389113 3 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC389114 3 similar to hypothetical protein FLJ35863 LOC339903 3p21.33 hypothetical protein LOC339903 DKFZP434B172 3p21.33 DKFZP434B172 protein FLJ14566 3p21.33 hypothetical protein FLJ14566 SNRK 3p24.3-p22.1 hypothetical protein FLJ14566 FLJ10375 3p21.32 hypothetical protein FLJ10375 ABHD5 3p21.32-p21.31 abhydrolase domain containing 5 FLJ36157 3p21.32 FLJ36157 protein DKFZp313N0621 3p21.32 hypothetical protein DKFZp313N0621 LOC285344 3p21.32 similar to hypothetical protein MG11009.4 ZNF445 3p21.32 zinc finger protein 445 LOC285346 3p21.32 hypothetical protein LOC285346 ZNF167 3p22-p21 zinc finger protein 167 LOC389115 3 hypothetical gene supported by BC009982; NM_015134 FLJ36870 3p21.32 hypothetical protein FLJ36870
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 5370 39 349 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal  
    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
  • 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
    Therapy target
    ANIMAL & CELL MODELS