PLTP phospholipid transfer protein [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:9093
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: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45898620..45912155, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47635115..47648212, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44527259..44540794, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exhaled phospholipid transfer protein and hepatocyte growth factor receptor in lung adenocarcinoma.
Title: Exhaled phospholipid transfer protein and hepatocyte growth factor receptor in lung adenocarcinoma.
PLTP is a p53 target gene with roles in cancer growth suppression and ferroptosis.
Title: PLTP is a p53 target gene with roles in cancer growth suppression and ferroptosis.
AGTR1, PLTP, and SCG2 associated with immune genes and immune cell infiltration in calcific aortic valve stenosis: analysis from integrated bioinformatics and machine learning.
Title: AGTR1, PLTP, and SCG2 associated with immune genes and immune cell infiltration in calcific aortic valve stenosis: analysis from integrated bioinformatics and machine learning.
Association between the PLTP rs4810479 SNP and Serum Lipid Traits in the Chinese Maonan and Han Populations.
Title: Association between the PLTP rs4810479 SNP and Serum Lipid Traits in the Chinese Maonan and Han Populations.
Identification of three predictors of gastric cancer progression and prognosis.
Title: Identification of three predictors of gastric cancer progression and prognosis.
Lipocalin-1 is the acceptor protein for phospholipid transfer protein in tears.
Title: Lipocalin-1 is the acceptor protein for phospholipid transfer protein in tears.
The selected compounds were further confirmed to target PLTP both biochemically and biophysically and were shown to inhibit apoB secretion from hepatic cells with no apparent toxicity.
Title: Identification of Novel Phospholipid Transfer Protein Inhibitors by High-Throughput Screening.
AAT protects PLTP from proteolytic cleavage and both AAT and PLTP mediate degranulation, possibly via Hck tyrosine kinase inhibition. Deficiency of AAT could contribute to reduced lung PLTP activity and elevated neutrophil signaling associated with lung disease.
Title: Phospholipid transfer protein and alpha-1 antitrypsin regulate Hck kinase activity during neutrophil degranulation.
Profurin can interact with intracellular PLTP and promote its ubiquitination and proteasomal degradation, resulting in less PLTP secretion from the hepatocytes. Furin does not cleave PLTP; instead, it forms a complex with PLTP, likely through its prodomain
Title: Prodomain of Furin Promotes Phospholipid Transfer Protein Proteasomal Degradation in Hepatocytes.
REVIEW: the major progress made in the PLTP research field and emphasis on its impact on lipoprotein metabolism and atherosclerosis, as well as its regulation
Title: Phospholipid transfer protein: its impact on lipoprotein homeostasis and atherosclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cda16d10 (e-PCR)
- UniSTS:40733

RH66081 (e-PCR)
- UniSTS:79523

D20S1030 (e-PCR)
- UniSTS:13497

AL022251 (e-PCR)
- UniSTS:49858

STS-M22960 (e-PCR)
- UniSTS:40154

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ceramide binding	IDA Inferred from Direct Assay more info	PubMed
enables ceramide transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables cerebroside transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables diacylglyceride transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables diacylglycerol binding	IDA Inferred from Direct Assay more info	PubMed
enables high-density lipoprotein particle binding	IDA Inferred from Direct Assay more info	PubMed
enables low-density lipoprotein particle binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidic acid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylethanolamine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylethanolamine transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylethanolamine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylglycerol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylglycerol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables phospholipid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sphingomyelin transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables very-low-density lipoprotein particle binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in glycolipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in high-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in lipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in sterol transport	IEA Inferred from Electronic Annotation more info
involved_in vitamin E biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phospholipid transfer protein

Names: BPI fold containing family E; lipid transfer protein II

NCBI Reference Sequences (RefSeq)

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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

NG_012115.2 RefSeqGene

Range

4993..18526

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242920.2 → NP_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/TrEMBL

Q53H91

Related

ENSP00000411671.2, ENST00000420868.2

Conserved Domains (2) summary

pfam02886
Location:133 → 369

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain

cl00188
Location:21 → 144

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 ...
NM_001242921.1 → NP_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/TrEMBL

Q53H91

Related

ENSP00000361497.1, ENST00000372420.5

Conserved Domains (2) summary

cd00025
Location:1 → 151

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:140 → 376

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
NM_006227.4 → NP_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

A8K006, B4DDD5, B4DRB4, E1P5N8, E7EV16, P55058, Q8WTT1, Q9BR07, Q9BSH8

UniProtKB/TrEMBL

Q53H91

Related

ENSP00000361508.3, ENST00000372431.8

Conserved Domains (2) summary

cd00025
Location:21 → 239

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:228 → 464

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain
NM_182676.3 → NP_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/TrEMBL

Q53H91

Related

ENSP00000335290.4, ENST00000354050.8

Conserved Domains (2) summary

cd00025
Location:21 → 187

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:176 → 412

LBP_BPI_CETP_C; LBP / BPI / CETP family, C-terminal domain