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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
Physical map
ANKS1 6p21.31 ankyrin repeat and SAM domain containing 1 TCP11 6p21.2 t-complex 11 (mouse) CEGF3 6p21.3 CUB domain and EGF-like repeat containing 3 ZNF76 6p21.2 zinc finger protein 76 (expressed in testis) DEF6 6p21.33-p21.1 differentially expressed in FDCP 6 homolog (mouse) PPARD 6p21.2-p21.1 peroxisome proliferative activated receptor, delta MKRNP2 6p21.1 makorin, ring finger protein, pseudogene 2 FANCE 6p22-p21 Fanconi anemia, complementation group E RPL10A 6p21.3 ribosomal protein L10a TEAD3 6p21.2 TEA domain family member 3 TULP1 6p21.3 tubby like protein 1 LOC389382 6 similar to Rps15a protein FKBP5 6p21.3-p21.2 FK506 binding protein 5 C6orf81 6p21.31 chromosome 6 open reading frame 81 LOC389383 6 similar to AAAL3045 LOC340204 6p21.31 similar to precursor peptide CLPS 6p22-p21.1 colipase, pancreatic MGC33835 6p21.31 hypothetical protein MGC33835 SRPK1 6p213-p21.2 SFRS protein kinase 1 SLC26A8 6p21 solute carrier family 26, member 8 MAPK14 6p21.2 mitogen-activated protein kinase 14 MAPK13 6p21.1 mitogen-activated protein kinase 13 BRPF3 6p21 bromodomain and PHD finger containing, 3 PNPLA1 6p21.31 patatin-like phospholipase domain containing 1 LOC389384 6 similar to RIKEN cDNA 4930539E08 ETV7 6p21 ets variant gene 7 (TEL2 oncogene ) STEPP 6p21.31 small testis-specific peroxisomal protein C6orf69 6p21.31 chromosome 6 open reading frame 69 STK38 6p21 serine/threonine kinase 38 SFRS3 11p15.1 splicing factor, arginine/serine-rich 3 LOC389385 6 similar to Cytosol aminopeptidase (Leucine aminopeptidase) (LAP) (Leucyl aminopeptidase) (Proline aminopeptidase) (Prolyl aminopeptidase) LOC389386 6 similar to Cytosol aminopeptidase (Leucine aminopeptidase) (LAP) (Leucyl aminopeptidase) (Proline aminopeptidase) (Prolyl aminopeptidase) CDKN1A 6p21.2 cyclin-dependent kinase inhibitor 1A (p21, Cip1) LOC346190 6p21.31 similar to hypothetical protein FLJ31614 LOC391917 6 similar to putative G-protein coupled receptor CPNE5 6p21.1 copine V PPIL1 6p21.1 peptidylprolyl isomerase (cyclophilin)-like 1 C6orf89 6p21.31 chromosome 6 open reading frame 89 PI16 6p21.31 protease inhibitor 16 MTCH1 6pter-p24.1 mitochondrial carrier homolog 1 (C. elegans) FGD2 6p21.2 FGD1 family, member 2 LOC285849 6p21.31 similar to cytochrome c oxidase subunit VIa polypeptide 1 precursor; cytochrome C oxidase subunit VIa homolog LOC389387 6 similar to 60S ribosomal protein L12 PIM1 6p21.2 pim-1 oncogene C6orf128 6p21.31-p21.2 chromosome 6 open reading frame 128 C6orf197 6p21.2 chromosome 6 open reading frame 197 RNF8 6p21.3 ring finger protein (C3HC4 type) 8 KIAA0082 6p21.2 ring finger protein (C3HC4 type) 8 C6orf129 6p21.2 chromosome 6 open reading frame 129
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