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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PLTP Gene

protein-coding   GIFtS: 64
GCID: GC20M044528

Phospholipid Transfer Protein

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phospholipid Transfer Protein1 2
BPI Fold Containing Family E1 2
Lipid Transfer Protein II2 3
HDLCQ92 5
BPIFE2

External Ids:    HGNC: 90931   Entrez Gene: 53602   Ensembl: ENSG000001009797   OMIM: 1724255   UniProtKB: P550583   

Export aliases for PLTP gene to outside databases

Previous GC identifers: GC20M044255 GC20M044215 GC20M045165 GC20M045212 GC20M043960 GC20M041269


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLTP Gene:
The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded
protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In
addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At
least two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

GeneCards Summary for PLTP Gene: 
PLTP (phospholipid transfer protein) is a protein-coding gene. Diseases associated with PLTP include hyperalphalipoproteinemia, and cetp deficiency, and among its related super-pathways are Statin Pathway. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPIFC.

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058
Function: Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol,
phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl
ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL,
thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and
assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from
peripheral cells and tissues that is subsequently transported to the liver for degradation and excretion. Two
distinct forms of PLTP exist in plasma: an active form that can transfer PC from phospholipid vesicles to
high-density lipoproteins (HDL), and an inactive form that lacks this capability

Gene Wiki entry for PLTP (Phospholipid transfer protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PLTP gene promoter:
         TBP   AML1a   NRSF form 1   MyoD   AP-4   NRSF form 2   GATA-1   RORalpha1   CP2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PLTP promoter sequence
   Search SABiosciences Chromatin IP Primers for PLTP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLTP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

PLTP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLTP gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M044528:  view genomic region     (about GC identifiers)

Start:
44,527,259 bp from pter      End:
44,541,003 bp from pter
Size:
13,745 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058 (See protein sequence)
Recommended Name: Phospholipid transfer protein precursor  
Size: 493 amino acids; 54739 Da
Subcellular location: Secreted
Secondary accessions: A8K006 B4DRB4 E1P5N8 E7EV16 Q8WTT1 Q9BR07 Q9BSH8
Alternative splicing: 3 isoforms:  P55058-1   P55058-2   P55058-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLTP: NX_P55058

Explore proteomics data for PLTP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55058

  • PLTP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLTP Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001229849.1  NP_001229850.1  NP_006218.1  NP_872617.1  

    ENSEMBL proteins: 
     ENSP00000361497   ENSP00000361508   ENSP00000335290   ENSP00000417138   ENSP00000411671  
     ENSP00000440296  

    Human Recombinant Protein Products for PLTP: 
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    OriGene MassSpec for PLTP 
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    Novus Biologicals PLTP Protein
    Novus Biologicals PLTP Lysates
    Sino Biological Recombinant Protein for PLTP
    Sino Biological Cell Lysate for PLTP 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLTP 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    PLTP for ontologies           About GeneDecksing



    PLTP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PLTP 

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    Cloud-Clone Corp. ELISAs for PLTP 
    Cloud-Clone Corp. CLIAs for PLTP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BPIF: BPI fold containing

    4 InterPro protein domains:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom
     IPR001124 Lipid-bd_serum_glycop_C
     IPR017954 Lipid-bd_serum_glycop_CS

    Graphical View of Domain Structure for InterPro Entry P55058

    ProtoNet protein and cluster: P55058

    1 Blocks protein domain: IPB001124 Lipid-binding serum glycoprotein

    UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family


    PLTP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLTP_HUMAN, P55058
    Function: Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol,
    phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl
    ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL,
    thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and
    assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from
    peripheral cells and tissues that is subsequently transported to the liver for degradation and excretion. Two
    distinct forms of PLTP exist in plasma: an active form that can transfer PC from phospholipid vesicles to
    high-density lipoproteins (HDL), and an inactive form that lacks this capability

         Genatlas biochemistry entry for PLTP:
    plasma phospholipid transfer protein,81kDa,partially overlapping PPGB,in opposite orientation,with high homology
    to LBP

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    PLTP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PLTP:
     Cell cycle / mitosis defect  Decreased melanin production 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pltp):
     homeostasis/metabolism  reproductive system  vision/eye 

    PLTP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pltptm1Jia for PLTP

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLTP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLTP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLTP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLTP 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLTP
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PLTP:
    hsa-miR-942 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidPLTP 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PLTP (NM_182676)
    Sino Biological Human cDNA Clone for PLTP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLTP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLTP
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                         Customized lentivirus expression plasmids for stable overexpression of PLTP 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLTP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLTP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Statin Pathway, Pharmacodynamics
    Statin Pathway, Pharmacodynamics0.73
    Statin Pathway0.73
    2PPAR signaling pathway
    PPAR signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PLTP
        Statin Pathway


    1 PharmGKB Pathway for PLTP
        Statin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for PLTP):
        PPAR signaling pathway


    PLTP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLTP

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for PLTP (P550583 ENSP000003615084) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOEP026493, ENSP000002524864I2D: score=3 STRING: ENSP00000252486
    ABCA1O954773, ENSP000003638684I2D: score=2 STRING: ENSP00000363868
    APOA1P026473, ENSP000002368504I2D: score=2 STRING: ENSP00000236850
    APOA2P026523, ENSP000003569694I2D: score=2 STRING: ENSP00000356969
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS7654777
    GO:0006869lipid transport IEA--
    GO:0010189vitamin E biosynthetic process IEA--
    GO:0030317sperm motility IEA--

    PLTP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PLTP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PLTP

    10/2601 HMDB Compounds for PLTP (see all 2601)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----

    10/32 Novoseek inferred chemical compound relationships for PLTP gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 93 819 15166780 (10), 11596664 (8), 10924722 (6), 7615508 (4) (see all 99)
    cholesterol 76.6 310 11300613 (8), 9054384 (7), 12772435 (7), 11427203 (5) (see all 99)
    cholesterol ester 73.2 20 15051598 (2), 8440695 (1), 20196738 (1), 11566452 (1) (see all 13)
    lipid 69.4 121 15166780 (6), 19789902 (3), 10395966 (3), 11229884 (3) (see all 69)
    fenofibrate 57.2 25 16298159 (5), 11342537 (5), 16700661 (3), 16761953 (2) (see all 7)
    phosphatidylcholine 53.3 35 9054384 (7), 10539773 (2), 8585633 (1), 12837922 (1) (see all 14)
    triacylglycerol 48.5 12 10924722 (4), 12889988 (1), 18460919 (1), 10973866 (1) (see all 5)
    22r-hydroxycholesterol 47.5 1 16142410 (1)
    acipimox 45.5 4 10426383 (2), 11472472 (2)
    pyrene 27.5 3 9132017 (1), 8546695 (1)

    Search CenterWatch for drugs/clinical trials and news about PLTP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PLTP gene (4 alternative transcripts): 
    NM_001242920.1  NM_001242921.1  NM_006227.3  NM_182676.2  

    Unigene Cluster for PLTP:

    Phospholipid transfer protein
    Hs.439312  [show with all ESTs]
    Unigene Representative Sequence: NM_006227
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372420(uc002xql.2) ENST00000372431(uc002xqn.2 uc002xqq.2)
    ENST00000354050(uc002xqo.2 uc010zxj.2) ENST00000477313 ENST00000420868
    ENST00000542937(uc002xqm.2)

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate PLTP:
    hsa-miR-942 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidPLTP 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLTP
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLTP

    Additional mRNA sequence: 

    AB076694.1 AF052157.1 AK092397.1 AK092523.1 AK222690.1 AK289371.1 AK293150.1 AK299181.1 
    BC005045.1 BC019847.1 BC019898.1 L26232.1 

    24/44 DOTS entries (see all 44):

    DT.95132974  DT.91961729  DT.100691645  DT.100039502  DT.100691619  DT.100691634  DT.100691668  DT.100691689 
    DT.95269585  DT.92466615  DT.102842129  DT.100691614  DT.95351001  DT.100691665  DT.91946991  DT.91891094 
    DT.97855923  DT.100644733  DT.100691685  DT.100841836  DT.120817737  DT.95269544  DT.120817815  DT.40212852 

    24/624 AceView cDNA sequences (see all 624):

    CR603856 AU117090 CR606867 N92284 BI061013 BM691492 BM704822 AL553248 
    AL554246 CA772532 F02668 BX386148 BM768290 AL551476 BE731514 BI836066 
    BG060129 CR612193 T39505 CR621817 BX403371 CR614247 CR611165 CR608163 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for PLTP (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a ·
    SP1:        -     -     -     -                                   -     -     -                             -     -     -                             -     -   
    SP2:        -     -     -     -                                   -     -     -                                                                       -     -   
    SP3:                                                              -     -     -                                                                       -     -   
    SP4:                                                                                                                                                  -     -   
    SP5:                                                                    -     -                                                                       -     -   

    ExUns: 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for PLTP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLTP expression in normal human tissues (normalized intensities)      PLTP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGGATTCCT
    PLTP Expression
    About this image


    PLTP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Growth Plate
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Smooth Muscle (Muscoskeletal System)
             Human Bronchial Smooth Muscle Cells (HBSM)   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Fibroblast
             Human Dermal Fibroblasts-neonate (HDF-n)   

    See PLTP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLTP

    SOURCE GeneReport for Unigene cluster: Hs.439312

    UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058
    Tissue specificity: Wide tissue distribution. Placenta > pancreas > lung > kidney > heart > liver > skeletal
    muscle > brain

        SABiosciences Expression via Pathway-Focused PCR Array including PLTP: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for PLTP gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pltp1 , 5 phospholipid transfer protein1, 5 82.72(n)1
    82.72(a)1
      2 (85.27 cM)5
    188301  NM_011125.21  NP_035255.11 
     1648395185 
    chicken
    (Gallus gallus)
    Aves PLTP1 phospholipid transfer protein 70.86(n)
    66.39(a)
      428164  NM_001162406.1  NP_001155878.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLTP6
    phospholipid transfer protein
    64(a)
    1 ↔ 1
    GL344146.1(20067-45958)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30032 Xenopus laevis transcribed sequence with weak similarity more 72.9(n)    CD361885.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pltp1 phospholipid transfer protein 60.92(n)
    55.17(a)
      445125  NM_001003519.1  NP_001003519.1 


    ENSEMBL Gene Tree for PLTP (if available)
    TreeFam Gene Tree for PLTP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PLTP gene
    BPIFC2  BPI2  LBP2  
    2 SIMAP similar genes for PLTP using alignment to 2 protein entries:     PLTP_HUMAN (see all proteins):
    BPI    BPIFC

    PLTP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/477 SNPs in PLTP are shown (see all 477)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0120744
    ----see VAR_0120742 T K mis40--------
    VAR_0170204
    ----see VAR_0170202 R Q mis40--------
    VAR_0170214
    ----see VAR_0170212 R H mis40--------
    rs1880992731,2
    C--41269978(+) GGGGCA/GACTGG 4 -- int10--------
    rs1397102841,2
    C,F--41270093(+) GTCACC/GACCTC 8 V syn12Minor allele frequency- G:0.00NA EU 5873
    rs18041611,2,4
    F--41270105(-) AACTTA/TGTGCA 8 L F mis14Minor allele frequency- T:0.05EA NA 40
    rs1855707111,2
    C--41270167(+) TGGGAA/GCACCC 4 -- int10--------
    rs1166442601,2
    C,F--41270189(+) GGCCCG/ACCCAG 4 -- int11Minor allele frequency- A:0.02WA 118
    rs115696751,2,4
    C,H--41270245(-) CCCATG/CCTCAA 8 /I /M mis1 ese38Minor allele frequency- C:0.00NS EA NA 498
    rs1456421151,2
    C,F--41270256(+) CATCAC/TCCCAA 8 M V mis12Minor allele frequency- T:0.00NA EU 5871

    HapMap Linkage Disequilibrium report for PLTP (44527259 - 44541003 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PLTP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658653CNV Deletion23128226
    esv2722456CNV Deletion23290073
    nsv3393CNV Loss18451855
    nsv833991CNV Loss17160897
    nsv833990CNV Loss17160897
    nsv517296CNV Loss19592680
    nsv912894CNV Gain21882294


    Human Gene Mutation Database (HGMD): PLTP
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 172425    OMIM disorders: --

    20/40 diseases for PLTP (see all 40):    About MalaCards
    hyperalphalipoproteinemia    cetp deficiency    lipoprotein lipase deficiency    hypoalphalipoproteinemias
    cardiovascular disease risk factor )    tangier disease    aortic valve stenosis    peripheral vascular disease
    familial combined hyperlipidemia    protein s deficiency    antiphospholipid syndrome    alcohol abuse
    hypertriglyceridemia    growth hormone deficiency    morbid obesity    gigantism
    neurologic diseases    hyperglycemia    vascular disease    type 1 diabetes

    1 disease from the University of Copenhagen DISEASES database for PLTP:
    Atherosclerosis

    PLTP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/26 Novoseek inferred disease relationships for PLTP gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperalphalipoproteinemia 79.2 3 19013296 (2), 12177167 (1)
    cetp deficiency 76.7 14 12177167 (5), 19023137 (2), 9711993 (1)
    hypoalphalipoproteinemia 66.9 3 16388083 (1), 19013296 (1)
    atherosclerosis 60.2 64 19733354 (4), 18421000 (3), 17553507 (3), 16935026 (3) (see all 28)
    tangier disease 57.4 1 19422933 (1)
    hypertriglyceridemia 49.5 6 16368749 (2), 15365582 (1), 19413703 (1), 15166780 (1)
    dyslipidemia 45.2 6 17308375 (1), 19789902 (1), 19933370 (1)
    niddm 45.1 20 16374627 (3), 9733217 (3), 9974406 (2), 19135989 (2) (see all 11)
    response acute phase 41.2 5 17980169 (2), 11566452 (1), 15754464 (1)
    insulin resistance 41.1 33 12754275 (7), 9726595 (3), 16368749 (2), 12837855 (2) (see all 15)

    Genetic Association Database (GAD): PLTP
    Human Genome Epidemiology (HuGE) Navigator: PLTP (23 documents)

    Export disorders for PLTP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PLTP gene, integrated from 9 sources (see all 346):
    (articles sorted by number of sources associating them with PLTP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and nongenetic sources of variation in phosph olipid transfer protein activity. (PubMed id 19965587)1, 4, 9 Jarvik G.P....Albers J.J. (2010)
    2. Role of cysteine residues in human plasma phospholipid transfer protein. (PubMed id 10333293)1, 2, 9 Qu S.J.... Pownall H.J. (1999)
    3. Complete cDNA encoding human phospholipid transfer protein from human endothelial cells. (PubMed id 8132678)1, 2, 9 Day J.R.... Adolphson J.L. (1994)
    4. Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. (PubMed id 16388083)1, 4, 9 Aouizerat B.E....Pullinger C.R. (2006)
    5. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1, 4, 9 Kathiresan S....Cupples L.A. (2009)
    6. Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. (PubMed id 19013296)1, 4, 9 Engler M.B....Aouizerat B.E. (2008)
    7. Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations. (PubMed id 16770077)1, 4, 9 Bauerfeind A....Morabia A. (2006)
    8. Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism. (PubMed id 21736953)1, 2 Albers J.J.... Cheung M.C. (2012)
    9. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (2012)
    10. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5360 HGNC: 9093 AceView: PLTP Ensembl:ENSG00000100979 euGenes: HUgn5360
    ECgene: PLTP Kegg: 5360 H-InvDB: PLTP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLTP Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/pltp/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PLTP gene:
    Search GeneIP for patents involving PLTP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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