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Aliases for PLTP Gene

Aliases for PLTP Gene

  • Phospholipid Transfer Protein 2 3
  • BPI Fold Containing Family E 2 3
  • Lipid Transfer Protein II 3 4
  • HDLCQ9 3
  • BPIFE 3

External Ids for PLTP Gene

Previous GeneCards Identifiers for PLTP Gene

  • GC20M044255
  • GC20M044215
  • GC20M045165
  • GC20M045212
  • GC20M043960
  • GC20M044528
  • GC20M041269

Summaries for PLTP Gene

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 neurologic diseases. Among its related pathways are Metabolism and PPAR signaling pathway. GO annotations related to this gene include lipid binding. An important paralog of this gene is BPI.

UniProtKB/Swiss-Prot for PLTP Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLTP Gene

Genomics for PLTP Gene

Regulatory Elements for PLTP Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PLTP Gene

Chromosome:
20
Start:
45,898,620 bp from pter
End:
45,912,364 bp from pter
Size:
13,745 bases
Orientation:
Minus strand

Genomic View for PLTP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLTP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLTP Gene

Proteins for PLTP Gene

  • Protein details for PLTP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55058-PLTP_HUMAN
    Recommended name:
    Phospholipid transfer protein
    Protein Accession:
    P55058
    Secondary Accessions:
    • A8K006
    • B4DDD5
    • B4DRB4
    • E1P5N8
    • E7EV16
    • Q8WTT1
    • Q9BR07
    • Q9BSH8

    Protein attributes for PLTP Gene

    Size:
    493 amino acids
    Molecular mass:
    54739 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PLTP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLTP Gene

Proteomics data for PLTP Gene at MOPED

Post-translational modifications for PLTP Gene

  • Glycosylation at Asn 64, Asn 94, Asn 117, Asn 143, Asn 245, Asn 398, Ser 483, Thr 484, Thr 487, Ser 489, and Thr 490
  • Modification sites at PhosphoSitePlus

Other Protein References for PLTP Gene

Antibody Products

No data available for DME Specific Peptides for PLTP Gene

Domains & Families for PLTP Gene

Gene Families for PLTP Gene

Suggested Antigen Peptide Sequences for PLTP Gene

Graphical View of Domain Structure for InterPro Entry

P55058

UniProtKB/Swiss-Prot:

PLTP_HUMAN :
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Family:
  • Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
genes like me logo Genes that share domains with PLTP: view

Function for PLTP Gene

Molecular function for PLTP Gene

GENATLAS Biochemistry:
plasma phospholipid transfer protein,81kDa,partially overlapping PPGB,in opposite orientation,with high homology to LBP
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PLTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PLTP: view
genes like me logo Genes that share phenotypes with PLTP: view

Animal Models for PLTP Gene

MGI Knock Outs for PLTP:

Animal Model Products

miRNA for PLTP Gene

miRTarBase miRNAs that target PLTP

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLTP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLTP Gene

Localization for PLTP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLTP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLTP Gene COMPARTMENTS Subcellular localization image for PLTP gene
Compartment Confidence
extracellular 5
cytosol 2
golgi apparatus 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PLTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 7654777
GO:0005615 extracellular space IDA 16502470
genes like me logo Genes that share ontologies with PLTP: view

Pathways & Interactions for PLTP Gene

genes like me logo Genes that share pathways with PLTP: view

Pathways by source for PLTP Gene

1 PharmGKB pathway for PLTP Gene
1 KEGG pathway for PLTP Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PLTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006869 lipid transport IEA --
GO:0010189 vitamin E biosynthetic process IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 24369175
GO:0030317 sperm motility IEA --
genes like me logo Genes that share ontologies with PLTP: view

No data available for SIGNOR curated interactions for PLTP Gene

Drugs & Compounds for PLTP Gene

(12) Drugs for PLTP Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenofibrate Approved Pharma PPARalpha agonist 158
Probucol Approved Pharma 19
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 482
Acetylcholine Experimental Pharma Full agonist, Agonist 104
cholesterol Experimental Pharma Agonist 0

(419) Additional Compounds for PLTP Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with PLTP: view

Transcripts for PLTP Gene

Unigene Clusters for PLTP Gene

Phospholipid transfer protein:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLTP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLTP Gene

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: - - - -
SP6: - - - - - - - - -
SP7: - - -
SP8: - - - - - -
SP9:
SP10: -
SP11: - -
SP12:
SP13:
SP14:

ExUns: 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for PLTP Gene

GeneLoc Exon Structure for
PLTP
ECgene alternative splicing isoforms for
PLTP

Expression for PLTP Gene

mRNA expression in normal human tissues for PLTP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLTP Gene

This gene is overexpressed in Synovial fluid (13.4) and Serum (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PLTP Gene



SOURCE GeneReport for Unigene cluster for PLTP Gene Hs.439312

mRNA Expression by UniProt/SwissProt for PLTP Gene

P55058-PLTP_HUMAN
Tissue specificity: Wide tissue distribution. Placenta > pancreas > lung > kidney > heart > liver > skeletal muscle > brain
genes like me logo Genes that share expression patterns with PLTP: view

Protein tissue co-expression partners for PLTP Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PLTP Gene

Orthologs for PLTP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLTP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLTP 35
  • 89.45 (n)
  • 90.72 (a)
PLTP 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLTP 35
  • 89.92 (n)
  • 94.29 (a)
PLTP 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pltp 35
  • 82.67 (n)
  • 82.81 (a)
Pltp 16
Pltp 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLTP 35
  • 99.39 (n)
  • 98.78 (a)
PLTP 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pltp 35
  • 82.6 (n)
  • 81.97 (a)
oppossum
(Monodelphis domestica)
Mammalia PLTP 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLTP 35
  • 71.46 (n)
  • 67.23 (a)
PLTP 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLTP 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pltp 35
  • 65.17 (n)
  • 64.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3003 35
zebrafish
(Danio rerio)
Actinopterygii pltp 35
  • 61.26 (n)
  • 55.7 (a)
pltp 36
  • 53 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13919 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToMany
Species with no ortholog for PLTP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLTP Gene

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

Paralogs for PLTP Gene

Paralogs for PLTP Gene

(2) SIMAP similar genes for PLTP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PLTP: view

Variants for PLTP Gene

Sequence variations from dbSNP and Humsavar for PLTP Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs378114 -- 45,909,788(+) AAACC(C/T)TCCTA intron-variant
rs389877 -- 45,903,845(-) ttttt(C/G)ggtgg intron-variant
rs394643 -- 45,911,539(+) GTGGG(A/G)ACTAG intron-variant, upstream-variant-2KB
rs414686 -- 45,906,725(-) tttag(C/T)ggaga intron-variant
rs429207 -- 45,900,280(+) TTTGT(A/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLTP Gene

Variant ID Type Subtype PubMed ID
nsv833990 CNV Loss 17160897
nsv517296 CNV Loss 19592680
nsv833991 CNV Loss 17160897
nsv912894 CNV Gain 21882294
nsv3393 CNV Loss 18451855
esv2722456 CNV Deletion 23290073
esv2658653 CNV Deletion 23128226

Variation tolerance for PLTP Gene

Residual Variation Intolerance Score: 59.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 50.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLTP Gene

HapMap Linkage Disequilibrium report
PLTP
Human Gene Mutation Database (HGMD)
PLTP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLTP Gene

Disorders for PLTP Gene

MalaCards: The human disease database

(7) MalaCards diseases for PLTP Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hyperalphalipoproteinemia
  • cholesterol-ester transfer protein deficiency
neurologic diseases
  • nervous system disorder
hypoalphalipoproteinemia
  • hdl deficiency, type 2
lipoprotein lipase deficiency
  • lipoprotein lipase
tangier disease
  • familial hypoalphalipoproteinemia
- elite association
Search PLTP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLTP

Genetic Association Database (GAD)
PLTP
Human Genome Epidemiology (HuGE) Navigator
PLTP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLTP
genes like me logo Genes that share disorders with PLTP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLTP Gene

Publications for PLTP Gene

  1. Role of Esrrg in the fibrate-mediated regulation of lipid metabolism genes in human ApoA-I transgenic mice. (PMID: 19949424) Sanoudou D. … Zannis V.I. (Pharmacogenomics J. 2010) 23 67
  2. Increased biglycan in aortic valve stenosis leads to the overexpression of phospholipid transfer protein via Toll-like receptor 2. (PMID: 20382708) Derbali H. … Mathieu P. (Am. J. Pathol. 2010) 23 67
  3. Exchanging carbohydrate or protein for fat improves lipid-related cardiovascular risk profile in overweight men and women when consumed ad libitum. (PMID: 20305576) Kratz M. … Purnell J.Q. (J. Investig. Med. 2010) 23 67
  4. Genetic and nongenetic sources of variation in phospholipid transfer protein activity. (PMID: 19965587) Jarvik G.P. … Albers J.J. (J. Lipid Res. 2010) 23 67
  5. The role of phospholipid transfer protein in lipoprotein-mediated neutralization of the procoagulant effect of anionic liposomes. (PMID: 20088939) Oslakovic C. … DahlbAock B. (J. Thromb. Haemost. 2010) 23 67

Products for PLTP Gene

Sources for PLTP Gene

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