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PLTP phospholipid transfer protein [ Homo sapiens (human) ]

Gene ID: 5360, updated on 22-Aug-2020

Summary

Official Symbol
PLTPprovided by HGNC
Official Full Name
phospholipid transfer proteinprovided by HGNC
Primary source
HGNC:HGNC:9093
See related
Ensembl:ENSG00000100979 MIM:172425
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]
Expression
Broad expression in placenta (RPKM 205.6), gall bladder (RPKM 89.3) and 21 other tissues See more
Orthologs

Genomic context

See PLTP in Genome Data Viewer
Location:
20q13.12
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (45898620..45912155, 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 zinc finger SWIM-type containing 1 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 phosphorylated CTD interacting factor 1 Neighboring gene zinc finger protein 335

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide binding IDA
Inferred from Direct Assay
more info
PubMed 
diacylglycerol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diacylglycerol binding IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane ceramide transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermembrane cholesterol transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
 
intermembrane phospholipid transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane phospholipid transfer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
intermembrane phosphotidylcholine transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidic acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidic acid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylethanolamine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylglycerol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylglycerol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
very-low-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide transport IDA
Inferred from Direct Assay
more info
PubMed 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
glycolipid transport IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
sterol 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 IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phospholipid transfer protein
Names
BPI fold containing family E
lipid transfer protein II

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_012115.2 RefSeqGene

    Range
    4993..18526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242920.2NP_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
    ENSP00000411671.2, ENST00000420868.2
    Conserved Domains (2) summary
    pfam02886
    Location:133369
    LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
    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
    ENSP00000361497.1, ENST00000372420.5
    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 ...
    pfam02886
    Location:140376
    LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
  3. NM_006227.4NP_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
    ENSP00000361508.3, ENST00000372431.8
    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 ...
    pfam02886
    Location:228464
    LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
  4. NM_182676.3NP_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
    ENSP00000335290.4, ENST00000354050.8
    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 ...
    pfam02886
    Location:176412
    LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    45898620..45912155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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