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Aliases for PLTP Gene

Aliases for PLTP Gene

  • Phospholipid Transfer Protein 2 3 5
  • 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 Hypoalphalipoproteinemia. Among its related pathways are Statin Pathway and Lipoprotein metabolism. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLTP Gene

Genomics for PLTP Gene

Regulatory Elements for PLTP Gene

Enhancers for PLTP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G045933 1.4 ENCODE dbSUPER 23.3 -24.0 -23966 6.3 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PLTP WFDC3 ACOT8 ZSWIM3 SPATA25 NEURL2 CTSA TNNC2 SNX21 UBE2C
GH20G045817 1.4 Ensembl ENCODE dbSUPER 15.7 +94.4 94443 1.5 HDAC1 KLF17 ZBTB40 ZEB1 TCF12 ZNF121 GLIS2 ZNF366 SCRT2 RCOR1 WFDC3 PLTP NCOA5 ZSWIM3 ACOT8 DNTTIP1 ZSWIM1 CTSA SPATA25 NEURL2
GH20G045822 1.4 Ensembl ENCODE dbSUPER 15.5 +88.3 88252 2.6 TBP ARNT ARID4B SIN3A THRB RAD21 RARA EGR1 PCBP1 MIXL1 WFDC3 PLTP NCOA5 ACOT8 ZSWIM3 ZSWIM1 DNTTIP1 ZNF334 SPATA25 NEURL2
GH20G045909 1.3 ENCODE dbSUPER 15 +1.4 1408 3.7 HDGF PKNOX1 MLX CREB3L1 ZFP64 SIN3A ARID4B DMAP1 YY1 ZNF766 PLTP SLC12A5-AS1 ZSWIM3 ACOT8 SNX21 TNNC2 UBE2C DNTTIP1 WFDC3 SLC12A5
GH20G045924 1.5 Ensembl ENCODE dbSUPER 12.4 -12.8 -12772 2.2 FOXA2 PKNOX1 ZNF133 ARID4B FEZF1 TCF12 ZNF766 GATA2 FOS JUNB WFDC3 PLTP NEURL2 CTSA SPATA25 TNNC2 SNX21 ZSWIM3 ACOT8 UBE2C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLTP on UCSC Golden Path with GeneCards custom track

Promoters for PLTP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137716 564 801 TBP NFRKB ZNF133 INSM2 SIN3A ARID4B BMI1 ZNF48 ZBTB40 U2AF2
ENSR00000298650 1364 401 HDGF PKNOX1 CREB3L1 ZNF133 BRCA1 TCF12 ZNF766 GATA2 ELK1 SP3

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

Genes around PLTP on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for PLTP Gene

  • Glycosylation at Asn64, posLast=9494, posLast=117117, Asn143, posLast=245245, posLast=398398, Ser483, Thr484, Thr487, posLast=489489, and posLast=490490
  • Modification sites at PhosphoSitePlus

Other Protein References for PLTP Gene

Antibody Products

  • Abcam antibodies for PLTP
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLTP

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

  • Taconic Biosciences Mouse Models for PLTP

CRISPR Products

miRNA for PLTP Gene

miRTarBase miRNAs that target PLTP

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLTP gene
Compartment Confidence
extracellular 5
plasma membrane 3
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 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

Gene Ontology (GO) - Biological Process for PLTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS,IEA --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0010189 vitamin E biosynthetic process IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 24369175
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

(13) Drugs for PLTP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(418) 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:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for PLTP Gene



Protein tissue co-expression partners for PLTP Gene

NURSA nuclear receptor signaling pathways regulating expression of PLTP Gene:

PLTP

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.

Evidence on tissue expression from TISSUES for PLTP Gene

  • Nervous system(4.9)
  • Heart(4.6)
  • Liver(4.6)
  • Bone marrow(4.4)
  • Blood(3.3)
  • Lung(2.8)
  • Kidney(2.4)
  • Pancreas(2.2)
  • Gall bladder(2.1)
  • Skin(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with PLTP: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PLTP 34 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia PLTP 34 35
  • 89.92 (n)
cow
(Bos Taurus)
Mammalia PLTP 34 35
  • 89.45 (n)
mouse
(Mus musculus)
Mammalia Pltp 34 16 35
  • 82.67 (n)
rat
(Rattus norvegicus)
Mammalia Pltp 34
  • 82.6 (n)
oppossum
(Monodelphis domestica)
Mammalia PLTP 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLTP 34 35
  • 71.46 (n)
lizard
(Anolis carolinensis)
Reptilia PLTP 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pltp 34
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3003 34
zebrafish
(Danio rerio)
Actinopterygii pltp 34 35
  • 61.26 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13919 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
OneToMany
Species where no ortholog for PLTP was found in the sources mined by GeneCards:
  • 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
rs200051553 Uncertain significance 45,898,373(+) GCGCC(A/G)GCCAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs536094482 Uncertain significance 45,898,716(+) ACTGA(A/T)TCCAT nc-transcript-variant, utr-variant-3-prime
rs568876316 Uncertain significance 45,898,770(+) TGGAC(A/G)GACTG nc-transcript-variant, utr-variant-3-prime
rs1000286743 -- 45,908,737(+) GTGGA(A/G)GTTGC intron-variant
rs1000499849 -- 45,913,033(+) GTCTC(A/G)ATCTC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2658653 CNV deletion 23128226
esv2722456 CNV deletion 23290073
esv3063791 CNV deletion 24192839
esv3557124 CNV deletion 23714750
nsv3393 CNV deletion 18451855
nsv517296 CNV loss 19592680
nsv586134 CNV gain 21841781
nsv833990 CNV loss 17160897
nsv833991 CNV loss 17160897
nsv956210 CNV deletion 24416366

Variation tolerance for PLTP Gene

Residual Variation Intolerance Score: 59.7% 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

Human Gene Mutation Database (HGMD)
PLTP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLTP

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

Disorders for PLTP Gene

MalaCards: The human disease database

(6) MalaCards diseases for PLTP Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperalphalipoproteinemia
  • cholesterol-ester transfer protein deficiency
hypoalphalipoproteinemia
  • hdl deficiency, type 2
generalized atherosclerosis
  • generalised atherosclerosis
tangier disease
  • familial alpha-lipoprotein deficiency
lipoprotein lipase deficiency
  • hyperlipoproteinemia, type i
- elite association - COSMIC cancer census association via MalaCards
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. Genetic and nongenetic sources of variation in phospholipid transfer protein activity. (PMID: 19965587) Jarvik G.P. … Albers J.J. (J. Lipid Res. 2010) 3 22 46 64
  2. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S. … Cupples L.A. (Nat. Genet. 2009) 3 22 46 64
  3. Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. (PMID: 19013296) Engler M.B. … Aouizerat B.E. (Metab. Clin. Exp. 2008) 3 22 46 64
  4. Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. (PMID: 16388083) Aouizerat B.E. … Pullinger C.R. (J. Lipid Res. 2006) 3 22 46 64
  5. Role of cysteine residues in human plasma phospholipid transfer protein. (PMID: 10333293) Qu S.J. … Pownall H.J. (J. Protein Chem. 1999) 3 4 22 64

Products for PLTP Gene

Sources for PLTP Gene

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