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    PLTP phospholipid transfer protein [ Homo sapiens (human) ]

    Gene ID: 5360, updated on 3-Jul-2016
    Official Symbol
    PLTPprovided by HGNC
    Official Full Name
    phospholipid transfer proteinprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    Location:
    20q13.12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (45898620..45912364, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44527259..44541003, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 25 Neighboring gene neuralized E3 ubiquitin protein ligase 2 Neighboring gene cathepsin A Neighboring gene pre-mRNA-splicing factor cwc22-like Neighboring gene PDX1 C-terminal inhibiting factor 1 Neighboring gene zinc finger protein 335

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    high-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin E biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    phospholipid transfer protein
    Names
    BPI fold containing family E
    lipid transfer protein II

    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_001242920.1NP_001229849.1  phospholipid transfer protein isoform c precursor

      See identical proteins and their annotated locations for NP_001229849.1

      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/Swiss-Prot
      P55058
      Related
      ENSP00000411671, OTTHUMP00000214865, ENST00000420868, OTTHUMT00000354632
      Conserved Domains (2) summary
      cd00026
      Location:168368
      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:21144
      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_001242921.1NP_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/Swiss-Prot
      P55058
      Related
      ENSP00000361497, OTTHUMP00000031679, ENST00000372420, OTTHUMT00000080349
      Conserved Domains (2) summary
      cd00025
      Location:1151
      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:175375
      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_006227.3NP_006218.1  phospholipid transfer protein isoform a precursor

      See identical proteins and their annotated locations for NP_006218.1

      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:21239
      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:263463
      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_182676.2NP_872617.1  phospholipid transfer protein isoform b precursor

      See identical proteins and their annotated locations for NP_872617.1

      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:21187
      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:211411
      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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      45898620..45912364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      44430379..44443688 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)