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FLASH GENE
Symbol PNPLA1 contributors: mct/npt - updated : 14-09-2013
HGNC name patatin-like phospholipase domain containing 1
HGNC id 21246
Corresponding disease
ARCI10 autosomal recessive congenital ichthyosis
Location 6p21.31      Physical location : 36.210.944 - 36.276.372
Synonym symbol(s) FLJ38755, dJ50J22.1, MGC119319, MGC119320, MGC119321
EC.number 3.1.1.-
DNA
TYPE functioning gene
STRUCTURE 65.43 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2394 48.75 446 - 2006 16799181
8 - 2478 - 532 - 2006 16799181
8 - 2367 47.7 437 - 2006 16799181
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin     Homo sapiensAdult
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningepidermisstratum granulosum  Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to PNPLA2
Homologene
FAMILY
  • patatin-like phospholipase family
  • CATEGORY enzyme , storage , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be implicated in storage of nutritious substrates
  • lipid hydrolase with diverse substrate specificities such as triacylglycerol hydrolases, phospholipases, and a retinylester hydrolase (Kienesberger 2008)
  • has a role in glycerophospholipid rather than neutral lipid metabolism
  • key role of PNPLA1 in the lipid organization and metabolism of the epidermal barrier that is of prime importance in the keratinization process and terminal differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI10
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS