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FLASH GENE
Symbol PLTP contributors: mct - updated : 17-05-2017
HGNC name phospholipid transfer protein
HGNC id 9093
Location 20q13.12      Physical location : 44.527.396 - 44.540.786
Synonym name lipid transfer protein II
Synonym symbol(s) HDLCQ9
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, opposite orientation
text
  • partially overlapping PPGB, in opposite orientation
  • STRUCTURE 13.39 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure SP1 and AP2 binding sites (Tu 1995)
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S880 - D20S119 - PLTP - D20S838 - D20S856 - qter
    Authors UCSC (2009)
    Physical map
    WFDC9 20q12-q13.1 WAP four-disulfide core domain 9 WFDC10A 20q13.12 WAP four-disulfide core domain 10A RPS2L1 20q13.11 ribosomal protein S2-like 1 WFDC11 20q12-q13.1 WAP four-disulfide core domain 11 WFDC10B 20 WAP four-disulfide core domain 10B WFDC13 20q13.12 WAP four-disulfide core domain 13 LOC391253 20 similar to dJ601O1.1 (novel protein with Kunitz/Bovine pancreatic trypsin inhibitor domain) HNRPA1P3 20q13.12 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 WFDC3 20q13.12 WAP four-disulfide core domain 3 DNTTIP1 20q13.12 deoxynucleotidyltransferase, terminal, interacting protein 1 UBE2C 20q12-q13.1 ubiquitin-conjugating enzyme E2C TNNC2 20q12-q13.11 troponin C2, fast C20orf161 20q13.11 chromosome 20 open reading frame 161 PTE1 20q12-q13.1 peroxisomal acyl-CoA thioesterase ZSWIM3 20q13.12 zinc finger, SWIM domain containing 3 ZSWIM1 20q13.12 zinc finger, SWIM domain containing 1 C20orf165 20q13.12 chromosome 20 open reading frame 165 C20orf163 20q13.12 chromosome 20 open reading frame 163 PPGB 20q13.1 protective protein for beta-galactosidase (galactosialidosis) PLTP 20q12 phospholipid transfer protein C20orf67 20q13.12 chromosome 20 open reading frame 67 ZNF335 20q11.21-q13.12 zinc finger protein 335 FTLP 20q13.12 ferritin, light polypeptide pseudogene MMP9 20q11.2 matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) LOC128499 20q13.12 hypothetical LOC128499 SLC12A5 20q12-q13.1 solute carrier family 12, (potassium-chloride transporter) member 5 NCOA5 20q12-q13.2 nuclear receptor coactivator 5 RPL13P2 20q13.12 ribosomal protein L13 pseudogene 2 TNFRSF5 20q12-q13.2 tumor necrosis factor receptor superfamily, member 5 CDH22 20q12-q13.1 cadherin-like 22
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 1745 - 493 - Karkainnen (2002)
  • low activity form
  • a 17 aa signal peptide of 1.7 kda
  • a 476 aa mature peptide of 53.1 kda
  • 15 splicing 1589 - 441 - Karkkainen (2002)
  • high activity form
  • a 17 aa signal peptide of 1.7 kda
  • a 424 aa mature peptide of 47.6 kda
  • lacking an alternate in-frame exon compared to variant 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide of 17 aa
  • a conserved C terminal required for anchoring lipoprotein particles
  • six potential N-glycosylation sites (Asn-X-Ser) (Qu 2006)
  • conjugated GlycoP , PhosphoP
    HOMOLOGY
    interspecies homolog to murine Pltp (82.7 pc)
    homolog to rattus Pltp (82.1 pc)
    intraspecies homolog to LBP,highly
    Homologene
    FAMILY
  • BPI/LBP/Plunc superfamily
  • LBP/BPI/CETP family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • may play a key role in extracellular phospholipid transport
  • involved in modulation of HDL particles (prebeta-HDL)
  • converting HDL into larger and smaller particles
  • involved in cholesterol metabolism
  • novel anti-inflammatory function of PLTP in the lung, suggesting that proteolytic cleavage of PLTP by CTSG may enhance the injurious inflammatory responses that occur in chronic obstructive pulmonary disease (COPD)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text phospholipid transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeted by LXR, expressed by macrophages in atherosclerotic lesions
  • APOE/PLTP interactions can be modulated by the conformation and lipidation state of APOE
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    acute elevation activity destabilizes atherosclerotic lesions and aggravates pre-existing atherosclerosis (Moerland 2008)
    constitutional     --over  
    activity increased in type 2 diabetic patients with or without coronary artery disease (Attia 2007)
    constitutional somatic mutation      
    in hypoalphalipoproteinemia (Aouizerat 2006, Engler 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    expressed in plasma from transgenic mice and contributing to formation of pre beta HDL