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    PLTP phospholipid transfer protein [ Homo sapiens ]

    Gene ID: 5360, updated on 4-Feb-2012
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    Summary

    Official Symbol
    PLTPprovided by HGNC
    Official Full Name
    phospholipid transfer proteinprovided by HGNC
    Primary source
    HGNC:9093
    See related
    Ensembl:ENSG00000100979; HPRD:01399; MIM:172425; Vega:OTTHUMG00000033047
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BPIFE; HDLCQ9
    Summary
    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]
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    Genomic context

    Location :
    20q13.12
    Sequence :
    Chromosome: 20; NC_000020.10 (44527259..44541003, complement)
    See PLTP in Epigenomics, MapViewer

    Chromosome 20 - NC_000020.10Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 25 Neighboring gene neuralized homolog 2 (Drosophila) Neighboring gene cathepsin A Neighboring gene uncharacterized LOC643549 Neighboring gene PDX1 C-terminal inhibiting factor 1 Neighboring gene zinc finger protein 335

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. PLTP regulates STAT3 and NFκB in differentiated THP1 cells and human monocyte-derived macrophages. Vuletic S, et al. Biochim Biophys Acta, 2011 Oct. PMID 21782857.
    2. Impact of site-specific N-glycosylation on cellular secretion, activity and specific activity of the plasma phospholipid transfer protein. Albers JJ, et al. Biochim Biophys Acta, 2011 Jul. PMID 21515415.
    3. Dry eye symptoms are increased in mice deficient in phospholipid transfer protein (PLTP). Setälä NL, et al. Am J Pathol, 2011 May. PMID 21514421.
    4. Cholesteryl ester transfer protein expression partially attenuates the adverse effects of SR-BI receptor deficiency on cholesterol metabolism and atherosclerosis. El Bouhassani M, et al. J Biol Chem, 2011 May 13. PMID 21454568.
    5. Different phospholipid transfer protein complexes contribute to the variation in plasma PLTP specific activity. Cheung MC, et al. Biochim Biophys Acta, 2011 May. PMID 21303701.

    See all (95) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. PLTP has anti-inflammatory capabilities in macrophages.
      Title: PLTP regulates STAT3 and NFκB in differentiated THP1 cells and human monocyte-derived macrophages.
    2. Increased PLTP activity in human tear fluid in dry eye syndrome patients suggests an ocular surface protective role for this lipid transfer protein.
      Title: Dry eye symptoms are increased in mice deficient in phospholipid transfer protein (PLTP).
    3. Data show that the removal of the carbohydrate chains had a quantitative impact on cellular secretion of PLTP and its phospholipid transfer activity.
      Title: Impact of site-specific N-glycosylation on cellular secretion, activity and specific activity of the plasma phospholipid transfer protein.
    4. data show the existence of small inactive plasma PLTP complexes, and show that variation in the amount of the two clusters of inactive PLTP complexes and specific activity of active PLTP contribute to the variation in plasma PLTP specific activity.
      Title: Different phospholipid transfer protein complexes contribute to the variation in plasma PLTP specific activity.
    5. the SR-BI pathway contributes in unique ways to cholesterol metabolism and atherosclerosis susceptibility even in the presence of CETP
      Title: Cholesteryl ester transfer protein expression partially attenuates the adverse effects of SR-BI receptor deficiency on cholesterol metabolism and atherosclerosis.
    6. Human PLTP expression in transgenic rabbits worsens atherosclerosis as a result of increased levels of atherogenic apoB-containing lipoproteins.
      Title: Worsening of diet-induced atherosclerosis in a new model of transgenic rabbit expressing the human plasma phospholipid transfer protein.
    7. CETP and PLTP activities were negatively related with the ratio of HDL-C/LDL-C.
      Title: Low cholesteryl ester transfer protein and phospholipid transfer protein activities are the factors making tree shrew and beijing duck resistant to atherosclerosis.
    8. a dual role for PLTP in human tear fluid
      Title: Interaction of phospholipid transfer protein with human tear fluid mucins.
    9. Our results indicate that there is no genetic association between PLTP and Alzheimer's disease
      Title: Genetic association between PLTP gene polymorphisms and Alzheimer's disease in a Japanese population.
    10. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
    Submit: New GeneRIF Correction See all (62)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at 30 loci contribute to polygenic dyslipidemia.

    High density lipoprotein cholesterol level QTL 9

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P55058 O95477 ABCA1    HPRD  PubMed  
    P55058 P02647 APOA1    HPRD  PubMed  
    P55058 P02652 APOA2    HPRD  PubMed  
    P55058 P02649 APOE    HPRD  PubMed  
    BioGRID:111374 BioGRID:106832 APOA1    BioGRID  PubMed Co-purification; Reconstituted Complex 
    BioGRID:111374 BioGRID:106833 APOA2    BioGRID  PubMed Co-purification; Reconstituted Complex 
    BioGRID:111374 BioGRID:106845 APOE    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PPAR signaling pathway, organism-specific biosystem (from KEGG)
      PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPAR signaling pathway, conserved biosystem (from KEGG)
      PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    vitamin E biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    phospholipid transfer protein
    Names
    phospholipid transfer protein
    lipid transfer protein II
    BPI fold containing family E
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012115.1 RefSeqGene

      Range
      4784..18528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242920.1 → NP_001229849.1  phospholipid transfer protein isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 5' coding region compared to variant 1. The resulting protein (isoform c) is shorter compared to isoform a.
      Source sequence(s)
      AK299181, AL008726
      Consensus CDS
      CCDS56197.1
      UniProtKB/TrEMBL
      B4DRB4
      UniProtKB/TrEMBL
      E7EV16
      Related
      ENSP00000411671, OTTHUMP00000214865, ENST00000420868, OTTHUMT00000354632
      Conserved Domains (2) summary
      cd00026
      Location:168 – 368
      Blast Score: 469
      BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...
      cl00188
      Location:68 – 144
      Blast Score: 195
      BPI; BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative ...

    2. NM_001242921.1 → NP_001229850.1  phospholipid transfer protein isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform d) is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK293150, AL008726
      Consensus CDS
      CCDS56196.1
      UniProtKB/TrEMBL
      B4DDD5
      UniProtKB/Swiss-Prot
      P55058
      Related
      ENSP00000361497, OTTHUMP00000031679, ENST00000372420, OTTHUMT00000080349
      Conserved Domains (2) summary
      cd00025
      Location:1 – 151
      Blast Score: 387
      BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...
      cd00026
      Location:175 – 375
      Blast Score: 470
      BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

    3. NM_006227.3 → NP_006218.1  phospholipid transfer protein isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (a).
      Source sequence(s)
      AL008726, L26232
      Consensus CDS
      CCDS13386.1
      UniProtKB/Swiss-Prot
      P55058
      Related
      ENSP00000361508, OTTHUMP00000031678, ENST00000372431, OTTHUMT00000080348
      Conserved Domains (2) summary
      cd00025
      Location:21 – 239
      Blast Score: 549
      BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...
      cd00026
      Location:263 – 463
      Blast Score: 475
      BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

    4. NM_182676.2 → NP_872617.1  phospholipid transfer protein isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b) which has the same N- and C-termini but which is shorter than isoform a.
      Source sequence(s)
      AL008726, BC005045
      Consensus CDS
      CCDS13387.1
      UniProtKB/Swiss-Prot
      P55058
      Related
      ENSP00000335290, OTTHUMP00000214864, ENST00000354050, OTTHUMT00000354631
      Conserved Domains (2) summary
      cd00025
      Location:21 – 187
      Blast Score: 346
      BPI1; BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...
      cd00026
      Location:211 – 411
      Blast Score: 466
      BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000020.10 Reference GRCh37.p5 Primary Assembly

      Range
      44527259..44541003, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000152.1 Alternate HuRef

      Range
      41269236..41282979, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL008726.3 CAA15499.1
      CAC36020.1
    genomic AL008726.3 CAA15499.1
      CAC36020.1
    genomic AY509570.1 AAR87775.1
    genomic CH471077.2 EAW75781.1
      EAW75782.1
      EAW75783.1
      EAW75784.1
      EAW75785.1
      EAW75786.1
      EAW75787.1
    genomic U38950.1 None
    mRNA AB076694.1 BAB79630.1
    mRNA AF052157.1 None
    mRNA AK092397.1 None
    mRNA AK092523.1 None
    mRNA AK097009.1 BAG53407.1
    mRNA AK222690.1 BAD96410.1
    mRNA AK289371.1 BAF82060.1
    mRNA AK293150.1 BAG56696.1
    mRNA AK299181.1 BAG61226.1
    mRNA BC005045.1 AAH05045.1
    mRNA BC019847.1 AAH19847.1
    mRNA BC019898.1 AAH19898.1
    mRNA L26232.1 AAA36443.1
    other-genetic DQ891798.2 ABM82724.1
    other-genetic DQ894981.2 ABM85907.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P55058.1 GenPept UniProtKB/Swiss-Prot:P55058
    Q53H91 GenPept UniProtKB/TrEMBL:Q53H91
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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