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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PLTP Gene

protein-coding GIFtS: 65
GCID: GC20M044528

phospholipid transfer protein

Explore 42 diseases affiliated with
PLTP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Phospholipid Transfer Protein¹ ²
BPIFE¹ ²
Lipid Transfer Protein II² ³
HDLCQ9² ⁵
BPI Fold Containing Family E²

External Ids:	HGNC: 9093¹	Entrez Gene: 5360²	Ensembl: ENSG00000100979⁷	OMIM: 172425⁵	UniProtKB: P55058³

Export aliases for PLTP gene to outside databases

Previous GC identifers: GC20M044255 GC20M044215 GC20M045165 GC20M045212 GC20M043960 GC20M041269

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLTP:

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)

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058

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 Wiki entry for PLTP (Phospholipid transfer protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PLTP gene promoter:
TBP AML1a NRSF form 1 MyoD AP-4 NRSF form 2 GATA-1 RORalpha1 CP2 Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PLTP promoter sequence

Search SABiosciences Chromatin IP Primers for PLTP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLTP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q13.12

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

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M044528: view genomic region (about GC identifiers)

Start:	44,527,397 bp from pter	End:	44,540,794 bp from pter
Size:	13,398 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058 (See protein sequence)

Recommended Name: Phospholipid transfer protein precursor

Size: 493 amino acids; 54739 Da

Subcellular location: Secreted

Secondary accessions: A8K006 B4DRB4 E1P5N8 E7EV16 Q8WTT1 Q9BR07 Q9BSH8

Alternative splicing: 3 isoforms: P55058-1 P55058-2 P55058-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLTP: NX_P55058

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55058

PLTP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001229849.1 NP_001229850.1 NP_006218.1 NP_872617.1

ENSEMBL proteins:

ENSP00000361497 ENSP00000361508 ENSP00000335290 ENSP00000417138 ENSP00000411671

ENSP00000440296

Human Recombinant Protein Products:

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	Novus Biologicals PLTP Protein Novus Biologicals PLTP Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PLTP

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

PLTP for ontologies About GeneDecksing

PLTP Antibody Products:

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	Uscn ELISAs and CLIAs for PLTP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLTP for domains About GeneDecksing

4 InterPro domains/families:

IPR017942 Lipid-bd_serum_glycop_N

IPR017943 Bactericidal_perm-incr_a/b_dom

IPR001124 Lipid-bd_serum_glycop_C

IPR017954 Lipid-bd_serum_glycop_CS

Graphical View of Domain Structure for InterPro Entry P55058

ProtoNet protein and cluster: P55058

1 Blocks protein family: IPB001124 Lipid-binding serum glycoprotein

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058

Similarity: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058

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 entry for PLTP:

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PLTP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLTP
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate PLTP:
		hsa-miR-942 hsa-miR-3688-3p
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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLTP (see all 4) OriGene shRNA RFP: PLTP OriGene siRNA: PLTP
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PLTP

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLTP

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008289	lipid binding	IEA	--

PLTP for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for PLTP:

Cell cycle / mitosis defect

Decreased melanin production

Animal Models:
Mouse knock-out Pltp^tm1Jia for PLTP
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pltp):

homeostasis/metabolism

reproductive system

vision/eye

PLTP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

PPAR signaling pathway

PPAR signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for PLTP

Statin Pathway

1 PharmGKB Pathway for PLTP

Statin Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for PLTP):

PPAR signaling pathway

PLTP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PLTP

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for PLTP (P55058³ ENSP00000361508⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APOE	P02649³, ENSP00000252486⁴	I2D: score=3 STRING: ENSP00000252486
ABCA1	O95477³, ENSP00000363868⁴	I2D: score=2 STRING: ENSP00000363868
APOA1	P02647³, ENSP00000236850⁴	I2D: score=2 STRING: ENSP00000236850
APOA2	P02652³, ENSP00000356969⁴	I2D: score=2 STRING: ENSP00000356969

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	TAS	7654777
GO:0006869	lipid transport	IEA	--
GO:0010189	vitamin E biosynthetic process	IEA	--
GO:0030317	sperm motility	IEA	--

PLTP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PLTP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PLTP

10/2601 HMDB Compounds for PLTP (see all 2601) About this table

Compound	Synonyms	CAS #	PubMed Ids
PC(O-16:0/18:2(9Z,12Z))	1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)	88542-95-4	12486725
PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))	1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)	--	12486725
PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))	1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)	103597-60-0	12486725
PE(P-16:0e/0:0)	2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e)	--	12486725
PE(P-16:0e/18:1(9Z))	2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine	--	12486725
PA(16:0/16:0)	Dipalmitoylphosphatidic acid (see all 25)	7091-44-3	--
PA(16:0/18:1(11Z))	PA(16:0/18:1n7) (see all 10)	--	--
PA(16:0/18:1(9Z))	PA(16:0/18:1n9) (see all 10)	--	--
PA(16:0/18:2(9Z,12Z))	PA(34:2) (see all 10)	--	--
PA(16:0e/18:0)	2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0)	--	--

10/32 Novoseek chemical compound relationships for PLTP gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phospholipid	93	819	15166780 (10), 11596664 (8), 10924722 (6), 7615508 (4) (see all 99)
cholesterol	76.6	310	11300613 (8), 9054384 (7), 12772435 (7), 11427203 (5) (see all 99)
cholesterol ester	73.2	20	15051598 (2), 8440695 (1), 20196738 (1), 11566452 (1) (see all 13)
lipid	69.4	121	15166780 (6), 19789902 (3), 10395966 (3), 11229884 (3) (see all 69)
fenofibrate	57.2	25	16298159 (5), 11342537 (5), 16700661 (3), 16761953 (2) (see all 7)
phosphatidylcholine	53.3	35	9054384 (7), 10539773 (2), 8585633 (1), 12837922 (1) (see all 14)
triacylglycerol	48.5	12	10924722 (4), 12889988 (1), 18460919 (1), 10973866 (1) (see all 5)
22r-hydroxycholesterol	47.5	1	16142410 (1)
acipimox	45.5	4	10426383 (2), 11472472 (2)
pyrene	27.5	3	9132017 (1), 8546695 (1)

Search CenterWatch for drugs/clinical trials and news about PLTP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PLTP gene (4 alternative transcripts):

NM_001242920.1 NM_001242921.1 NM_006227.3 NM_182676.2

Unigene Cluster for PLTP:

Phospholipid transfer protein

Hs.439312 [show with all ESTs]

Unigene Representative Sequence: NM_006227

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000372420(uc002xql.2) ENST00000372431(uc002xqn.2 uc002xqq.2)

ENST00000354050(uc002xqo.2 uc010zxj.2) ENST00000477313 ENST00000420868

ENST00000542937(uc002xqm.2)

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		hsa-miR-942 hsa-miR-3688-3p
		SwitchGear 3'UTR luciferase reporter plasmid: PLTP 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLTP

Additional cDNA sequence:

AB076694.1 AF052157.1 AK092397.1 AK092523.1 AK222690.1 AK289371.1 AK293150.1 AK299181.1

BC005045.1 BC019847.1 BC019898.1 L26232.1

24/50 DOTS entries (see all 50):

DT.95132974 DT.91961729 DT.100039502 DT.100691645 DT.100691619 DT.100691634 DT.100691668 DT.92466615

DT.95269585 DT.100691689 DT.102842129 DT.100691614 DT.95351001 DT.100691665 DT.91946991 DT.91891094

DT.95269544 DT.97855923 DT.100644733 DT.100691662 DT.100691685 DT.100841836 DT.120817737 DT.95269605

24/624 AceView cDNA sequences (see all 624):

CR609895 CR592030 AU117090 AL554246 CR614141 AI560805 AL554131 CR609091

CR599835 CA405928 BQ651472 CR595598 BF591004 AA476615 CR608163 AI079386

BQ691057 BQ067074 BX386148 CR621817 CR606867 CR597556 BU846368 CR601380

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for PLTP (see all 14) About this scheme

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:																							-		-																								-		-

ExUns:	11b	·	11c	^	12	^	13	^	14	^	15	^	16	^	17	^	18
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for PLTP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PLTP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGGGATTCCT

About this image

PLTP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

See PLTP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PLTP

SOURCE GeneReport for Unigene cluster: Hs.439312

UniProtKB/Swiss-Prot: PLTP_HUMAN, P55058

Tissue specificity: Wide tissue distribution. Placenta > pancreas > lung > kidney > heart > liver > skeletal muscle >

brain

SABiosciences Expression via Pathway-Focused PCR Array including PLTP:

PPAR Targets in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLTP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLTP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLTP gene from 7/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pltp^{1 , 5}	phospholipid transfer protein^{1, 5}	82.72(n)¹ 82.72(a)¹		2 (85.27 cM)⁵ 18830¹ NM_011125.2¹ NP_035255.1¹ 164839518⁵
chicken (Gallus gallus)	Aves	PLTP¹	phospholipid transfer protein	70.86(n) 66.39(a)		428164 NM_001162406.1 NP_001155878.1
lizard (Anolis carolinensis)	Reptilia	PLTP⁶	--	63(a)	1 ↔ 1	GL344146.1(20801-45951)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3003²	Xenopus laevis transcribed sequence with weak similarity more	72.9(n)		CD361885.1
zebrafish (Danio rerio)	Actinopterygii	pltp¹	phospholipid transfer protein	60.92(n) 55.17(a)		445125 NM_001003519.1 NP_001003519.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G04970⁶ AT3G20270⁶	lipid-binding serum glycoprotein-like protein	17(a) 11(a)	many ↔ many many ↔ many	1(1411170-1413627) 3(7067057-7070946)
rice (Oryza sativa)	Liliopsida	-- --	BPI/LBP family protein At3g20270 precursor, putati... BPI/LBP family protein At3g20270 precursor, putati...	18(a) 17(a)	many ↔ many many ↔ many	6(11736121-11740016) 9(18568418-18573040)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PLTP gene

BPIFB4² BPIFB6² BPIFB2² BPIFB3² BPIFC² BPI² LBP²

2 SIMAP similar genes for PLTP using alignment to 2 protein entries: PLTP_HUMAN (see all proteins):

BPI BPIFC

PLTP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2664590^1,2	H	--	41269136(+)	`CTCTTC/ATAAGC`	4	--	ds500¹		4		NS EA	418
rs2664568^1,2	H	--	41269165(+)	`GGGTTC/TTGCCG`	4	--	ds500¹		4		NS EA	420
rs1804213^1,2	H	--	41269298(+)	`CCCTTC/ATCTGC`	4	--	ut3¹ ese³ trp³		4		NS EA	418
rs79280639^1,2		--	41269361(+)	`CTCAGG/AACAGC`	4	--	ut3¹		1		NA	120
rs11569661^1,2	H	--	41269480(-)	`ATAGCC/TTGTAG`	4	--	ut3¹ ese³		6		NS EA	504
rs147664819^1,2	C	--	41269624(+)	`TCTCAA/GTCACC`	8	T I	mis¹		1		NA	4550
rs115172363^1,2	C,F,	--	41269742(+)	`GAGATC/TAAGAG`	4	--	int¹		1		WA	118
rs1804161^1,2	F	--	41270105(-)	`AACTTA/TGTGCA`	8	L F	mis¹		4		EA NA	40
rs11569675^1,2	C,H	--	41270245(-)	`CCCATG/CCTCAA`	8	/I /M	mis¹ ese³		8		NS EA NA	498
rs56235473^1,2	C,	--	41270365(+)	`GCCCGA/CAGGTG`	4	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PLTP (44527397 - 44540794 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PLTP
1 CNV: 50668
Human Gene Mutation Database (HGMD): PLTP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLTP

DNA2.0 Custom Variant and Variant Library Synthesis for PLTP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PLTP for disorders           About GeneDecksing

OMIM gene information: 172425    OMIM disorders: --

20/42 diseases for PLTP (see all 42):    About MalaCards

high density lipoprotein cholesterol level qtl 9 lipoprotein lipase deficiency cetp deficiency aortic valve stenosis

cholesterol growth hormone deficiency familial combined hyperlipidemia hyperalphalipoproteinemia

type 2 diabetes mellitus type 1 diabetes mellitus hypoalphalipoproteinemia coronary heart disease

diabetes mellitus tangier disease antiphospholipid syndrome insulin resistance

alcohol abuse peripheral vascular disease morbid obesity hypertriglyceridemia

1 disease from the University of Copenhagen DISEASES database for PLTP:

Atherosclerosis

10/26 Novoseek disease relationships for PLTP gene (see all 26) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperalphalipoproteinemia	79.2	3	19013296 (2), 12177167 (1)
cetp deficiency	76.7	14	12177167 (5), 19023137 (2), 9711993 (1)
hypoalphalipoproteinemia	66.9	3	16388083 (1), 19013296 (1)
atherosclerosis	60.2	64	19733354 (4), 18421000 (3), 17553507 (3), 16935026 (3) (see all 28)
tangier disease	57.4	1	19422933 (1)
hypertriglyceridemia	49.5	6	16368749 (2), 15365582 (1), 19413703 (1), 15166780 (1)
dyslipidemia	45.2	6	17308375 (1), 19789902 (1), 19933370 (1)
niddm	45.1	20	16374627 (3), 9733217 (3), 9974406 (2), 19135989 (2) (see all 11)
response acute phase	41.2	5	17980169 (2), 11566452 (1), 15754464 (1)
insulin resistance	41.1	33	12754275 (7), 9726595 (3), 16368749 (2), 12837855 (2) (see all 15)

Genetic Association Database (GAD): PLTP
Human Genome Epidemiology (HuGE) Navigator: PLTP (23 documents)

Export disorders for PLTP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PLTP gene, integrated from 9 sources (see all 343):
(articles sorted by number of sources associating them with PLTP)

Utopia: connect your pdf to the dynamic
world of online information

Role of cysteine residues in human plasma phospholipid transfer protein. (PubMed id 10333293)^{1, 2, 9} Qu S.J.... Pownall H.J. (1999)
Complete cDNA encoding human phospholipid transfer protein from human endothelial cells. (PubMed id 8132678)^{1, 2, 9} Day J.R.... Adolphson J.L. (1994)
Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. (PubMed id 16388083)^{1, 4, 9} Aouizerat B.E....Pullinger C.R. (2006)
Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism. (PubMed id 21736953)^{1, 2} Albers J.J.... Cheung M.C. (2012)
Haplotypes in the phospholipid transfer protein gene are associated with obesity-related phenotypes: the Quebec Family Study. (PubMed id 15953936)^{1, 4} Bosse Y....Vohl M.C. (2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors. (PubMed id 12966036)^{1, 2} Morabia A.... Gilliam T.C. (2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5360	HGNC: 9093	AceView: PLTP	Ensembl:ENSG00000100979	euGenes: HUgn5360
ECgene: PLTP	Kegg: 5360	H-InvDB: PLTP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PLTP	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/pltp/

Intellectual Property for PLTP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PLTP gene:
Search GeneIP for patents involving PLTP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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PLTP Gene

phospholipid transfer protein

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