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FLASH GENE
Symbol PPARA last update : 20-10-2007
HGNC name peroxisome proliferative activated receptor, alpha
HGNC id 9232
Location 22q13.3
Synonym symbol(s) H9232, NR1C1, hPPAR
DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
DNABack to top
TYPE functioning gene
STRUCTURE 93.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
cytosine-phosphate-guanine/HTF
Binding site   HRE
text structure
  • a regulatory element (RE) consisting of a degenerate hexamer repeat with a single nucleotide spacer (direct repeat 1), termed alphaHNF4-RE, leading to an induction of PPARalpha expression in hepatocytes
  • three new novel exons at the 5(') - untranslated region were also identified and designated as Exon A, Exon B, and Exon 2b
  • with RXRA bind to the PPRE in the PDZK1 promoter
    • MAPPING cloned Y linked Y status confirmed
    Physical map
    HMG17L1 22q13.31 high-mobility group (nonhistone chromosomal) protein 17-like 1 SULT4A1 22q13.2-q13.31 sulfotransferase family 4A, member 1 LOC150379 22q13.31 GS2 like C22orf20 22q13.31 chromosome 22 open reading frame 20 CGI-51 22q13.31 CGI-51 protein PARVB 22q13.2-q13.33 parvin, beta TRSPP1 22q11 tRNA phosphoserine (opal suppressor) pseudogene 1 PARVG 22q13.2-q13 parvin, gamma LOC388909 22 LOC388909 MRPS18CP6 22q13.31 mitochondrial ribosomal protein S18C pseudogene 6 DKFZp761O17121 22q13.31 hypothetical protein DKFZp761O17121 LOC129186 22q13.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC388910 22 LOC388910 ARHGAP8 22q13.31 Rho GTPase activating protein 8 LOC112885 22q13.31 hypothetical protein BC012187 NUP50 22q13.31 nucleoporin 50kDa KIAA0930 22q13.31 nucleoporin 50kDa UPK3A 22q13.31 uroplakin 3A FLJ20635 22q13 hypothetical protein FLJ20635 SMC1L2 22q13.31 SMC1 structural maintenance of chromosomes 1-like 2 (yeast) DKFZP566F0546 22q13.31 DKFZP566F0546 protein FBLN1 22q13.31 fibulin 1 LOC388911 22 LOC388911 E46L 22q13.31 LOC388911 LOC388912 22 LOC388912 FLJ10945 22q13.31 hypothetical protein FLJ10945 LOC388913 22 similar to seroreactive antigen BMN1-2 LOC150381 22q13.31 hypothetical protein LOC150381 PPARA 22q13.3 peroxisome proliferative activated receptor, alpha MGC2452 22q13.31 hypothetical protein MGC2452 LOC150383 22q13.31 similar to RIKEN cDNA 2210021J22 PKDREJ 22q13.32 polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like FLJ20699 22q13 hypothetical protein FLJ20699 GTSE1 22q13.2-q13.3 G-2 and S-phase expressed 1 FLJ10140 22q13 hypothetical protein FLJ10140 CELSR1 22q13.32 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) KIAA0767 22q13.31 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) CERK 22q13.31 ceramide kinase C22orf4 22q13.3 chromosome 22 open reading frame 4 LOC391338 22 similar to 60S ribosomal protein L10 (QM protein homolog) LOC388914 22 LOC388914 LOC284931 22q13.32 hypothetical LOC284931 LOC388915 22 LOC388915
    RNABack to top
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionauthors
    PPARA I1 V3 - - 8129 52.2 468 - Tien, Chew
    PPARA I1 V4 - - 8208 52.2 468 - Tien, Chew
    PPARA I1 V6 - - 8497 52.2 468 - Tien, Chew
    PPARA I1 V5 - - 8223 52.2 468 - Tien, Chew
    PPARA I2 - - 1571 28.2 258 - Tien, Chew
    EXPRESSION / SUBCELLULAR LOCALIZATIONBack to top
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrineadrenal gland   highly
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Muscularstriatumskeletal highly
    cells
    SystemCell
    Digestivehepatocyte
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    PROTEINBack to top
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a zinc-finger domain, C4 type
  • one nuclear receptor DNA-binding domain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies
     
    intraspecies
     
    Homologene
    FAMILY
  • steroid/thyroid hormone receptor superfamily
  • nuclear hormone receptor family
  • NR1 subfamily
    • CATEGORY regulatory , transcription factor , receptor nuclear
    basic FUNCTION
  • involved in the control of fatty acid synthesis, oxidation and ketogenesis
  • playing a critical role in the cellular fasting response
  • involved in the metabolic control of the expression of the genes encoding fatty acid oxidation enzymes
  • controlling the intracellular CoA concentration via regulation of PANK1alpha expression
  • its activation upregulates nephrin expression in embryonic kidney epithelial cells and podocytes by a dual mechanism
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    peroxisomal fatty acid pathway
    a component heterodimerizing with RXR*
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • NCOA3 and NCOA6 coactivators
  • binds to a direct repeat of two hexanucleotides spaced by one nucleotide, as heterodimers with the retinoid X receptor (RXR)
    • cell & other
    REGULATION
    activated by fatty acids
    inhibitors of mitochondrial long-chain fatty acid import
    ASSOCIATED DISORDERSBack to top
    corresponding disease(s)
    Susceptibility
  • to familial combined hyperlipidemia (gene modifier)
  • to atherosclerosis or coronary heart disease
    • Variant & Polymorphism other L162V might protect against the development of atherosclerosis or coronary heart disease in patients with type 2 diabetes (protective effects are exerted directly on the arterial wall)
    Candidate gene
    Marker
    Therapy target
    animal or cellular model