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 i... See more...

Aliases for PLTP Gene

Aliases for PLTP Gene

  • Phospholipid Transfer Protein 2 3 4 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 1 and Tangier Disease. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is LBP.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PLTP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLTP Gene

Genomics for PLTP Gene

GeneHancer (GH) Regulatory Elements for PLTP Gene

Promoters and enhancers for PLTP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLTP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLTP

Top Transcription factor binding sites by QIAGEN in the PLTP gene promoter:
  • AML1a
  • AP-4
  • CP2
  • GATA-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • RORalpha1
  • TBP
  • Zic3

Genomic Locations for PLTP Gene

Genomic Locations for PLTP Gene
chr20:45,898,620-45,912,364
(GRCh38/hg38)
Size:
13,745 bases
Orientation:
Minus strand
chr20:44,527,259-44,541,003
(GRCh37/hg19)
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 Asn94, Asn117, Asn143, Asn64, Asn245, Asn398, Ser483, Thr484, Thr487, Ser489, and Thr490
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PLTP_HUMAN (683)

Other Protein References for PLTP Gene

No data available for DME Specific Peptides for PLTP Gene

Domains & Families for PLTP Gene

Gene Families for PLTP Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for PLTP Gene

Suggested Antigen Peptide Sequences for PLTP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39690 fis, clone SMINT2010639, highly similar to PHOSPHOLIPID TRANSFER PROTEIN (B3KUE5_HUMAN)
  • Lipid transfer protein II (PLTP_HUMAN)

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

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.
GENATLAS Biochemistry:
plasma phospholipid transfer protein,81kDa,partially overlapping PPGB,in opposite orientation,with high homology to LBP

Phenotypes From GWAS Catalog for PLTP Gene

Gene Ontology (GO) - Molecular Function for PLTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IDA 9132017
GO:0005548 phospholipid transporter activity IDA 9132017
GO:0008289 lipid binding IEA --
GO:0008429 phosphatidylethanolamine binding IDA 9132017
GO:0008525 phosphatidylcholine transporter activity IDA 9132017
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

Clone 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
nucleus 3
cytosol 3
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 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 IBA 21873635
GO:0034364 high-density lipoprotein particle IDA 9132017
genes like me logo Genes that share ontologies with PLTP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLTP Gene

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:0006869 lipid transport IDA 9132017
GO:0010189 vitamin E biosynthetic process IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 24369175
GO:0015914 phospholipid transport IDA,IBA 9132017
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

(19) Drugs for PLTP Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin E Approved, Vet_approved Nutra Carrier 521,525
Vitamin D3 Approved Nutra Fat-soluble secosteroids 1053,1044
Calciferol Pharma 2163
Eicosapentaenoic acid ethyl ester Pharma 28
Omega 3 Fatty Acid Pharma 1262

(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-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
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))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
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

mRNA/cDNA for PLTP Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for PLTP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for PLTP Gene



Protein tissue co-expression partners for PLTP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLTP 31 30
  • 89.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLTP 31 30
  • 89.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pltp 17 31 30
  • 82.67 (n)
rat
(Rattus norvegicus)
Mammalia Pltp 30
  • 82.6 (n)
oppossum
(Monodelphis domestica)
Mammalia PLTP 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLTP 31 30
  • 71.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLTP 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pltp 30
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3003 30
zebrafish
(Danio rerio)
Actinopterygii pltp 31 30
  • 61.26 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13919 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PLTP: view image

Paralogs for PLTP Gene

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

  • PLTP_HUMAN
  • B3KUE5_HUMAN
genes like me logo Genes that share paralogs with PLTP: view

Variants for PLTP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLTP Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
780609 Benign: not provided 45,909,630(-) G/T MISSENSE_VARIANT,INTRON_VARIANT
789856 Benign: not provided 45,902,261(-) G/C INTRON_VARIANT
789857 Benign: not provided 45,902,500(-) G/A SYNONYMOUS_VARIANT
rs3843763 Association: High density lipoprotein cholesterol level quantitative trait locus 9 45,919,554(-) C/T
rs536094482 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,898,716(-) T/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PLTP Gene

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)

Additional Variant Information for PLTP Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLTP Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search PLTP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLTP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 GP … Albers JJ (Journal of lipid research 2010) 3 23 41 54
  2. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S … Cupples LA (Nature genetics 2009) 3 23 41 54
  3. Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. (PMID: 19013296) Engler MB … Aouizerat BE (Metabolism: clinical and experimental 2008) 3 23 41 54
  4. Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. (PMID: 16388083) Aouizerat BE … Pullinger CR (Journal of lipid research 2006) 3 23 41 54
  5. Role of cysteine residues in human plasma phospholipid transfer protein. (PMID: 10333293) Qu SJ … Pownall HJ (Journal of protein chemistry 1999) 3 4 23 54

Products for PLTP Gene