PLTP
gene geneOn this page
Also known as BPIFE
Summary
PLTP (phospholipid transfer protein, HGNC:9093) is a protein-coding gene on chromosome 20q13.12, encoding Phospholipid transfer protein (P55058). Mediates the transfer of phospholipids and free cholesterol from triglyceride-rich lipoproteins (low density lipoproteins or LDL and very low density lipoproteins or VLDL) into high-density lipoproteins (HDL) as well as the exchange of phospholipids between triglyceride-rich lip….
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.
Source: NCBI Gene 5360 — RefSeq curated summary.
At a glance
- GWAS associations: 91 (top 1% of genes corpus-wide)
- Clinical variants (ClinVar): 234 total
- GTEx eGene: eQTL in 42 tissues, sQTL in 38 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.00 (unconstrained)
- MANE Select transcript:
NM_006227 - Notable: 234 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9093 |
| Approved symbol | PLTP |
| Name | phospholipid transfer protein |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BPIFE |
| Ensembl gene | ENSG00000100979 |
| Ensembl biotype | protein_coding |
| OMIM | 172425 |
| Entrez | 5360 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 28 protein_coding, 10 nonsense_mediated_decay
MANE Select: ENST00000372431
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 2
ENST00000372431, ENST00000354050, ENST00000372420, ENST00000420868, ENST00000477313, ENST00000867284, ENST00000867285, ENST00000867286, ENST00000867287, ENST00000867288, ENST00000867289, ENST00000932731, ENST00000932732, ENST00000932733, ENST00000932734, ENST00000932735, ENST00000932736, ENST00000958184, ENST00000958185, ENST00000958186, ENST00000958187, ENST00000958188, ENST00000958189, ENST00000958190, ENST00001008031, ENST00001025083, ENST00001025084, ENST00001025085, ENST00001025086, ENST00001025087, ENST00001025088, ENST00001025089, ENST00001025090, ENST00001025093, ENST00001025095, ENST00001025096, ENST00001112415, ENST00001132729
RefSeq mRNA: 4 — MANE Select: NM_006227
NM_001242920, NM_001242921, NM_006227, NM_182676
CCDS: CCDS13386, CCDS13387, CCDS56196, CCDS56197
Canonical transcript exons
ENST00000372431 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662442 | 45899462 | 45899538 |
| ENSE00000662443 | 45899622 | 45899685 |
| ENSE00000662444 | 45899836 | 45899878 |
| ENSE00000662446 | 45904800 | 45904859 |
| ENSE00000662447 | 45904942 | 45905118 |
| ENSE00000662448 | 45906268 | 45906359 |
| ENSE00000662449 | 45907692 | 45907755 |
| ENSE00000662450 | 45907841 | 45907904 |
| ENSE00000662451 | 45909516 | 45909671 |
| ENSE00000662453 | 45911152 | 45911251 |
| ENSE00000845074 | 45902267 | 45902334 |
| ENSE00000845075 | 45902440 | 45902604 |
| ENSE00000845076 | 45911353 | 45911463 |
| ENSE00001432112 | 45912079 | 45912155 |
| ENSE00003539934 | 45909942 | 45910070 |
| ENSE00003843114 | 45898622 | 45899063 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 99.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.4563 / max 1982.3213, expressed in 1488 samples.
Highest expression (Bgee): coronary artery, adrenal gland cortex, mucosa of stomach, adrenal gland, gall bladder.
Genetic regulation across tissues (GTEx eQTL / sQTL)
PLTP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 42 tissues and its splicing (sQTL) in 38 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 80 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Esophagus Mucosa | eqtl | 1.3e-37 | -0.72 | 20:45912327:A:AC |
| Skin Not Sun Exposed Suprapubic | eqtl | 5.9e-35 | -0.77 | 20:45912327:A:AC |
| Skin Sun Exposed Lower leg | eqtl | 5.3e-33 | -0.64 | 20:45912327:A:AC |
| Adipose Subcutaneous | sqtl | 2.3e-28 | -0.61 | 20:45909788:T:C |
| Adipose Visceral Omentum | sqtl | 5.9e-28 | -0.71 | 20:45909788:T:C |
| Muscle Skeletal | eqtl | 9.0e-23 | +0.27 | 20:45919331:C:T |
| Breast Mammary Tissue | sqtl | 1.8e-21 | -0.63 | 20:45909788:T:C |
| Nerve Tibial | eqtl | 7.7e-21 | +0.33 | 20:45916409:C:T |
| Artery Aorta | eqtl | 5.5e-19 | +0.35 | 20:45919331:C:T |
| Artery Tibial | eqtl | 2.0e-18 | +0.25 | 20:45922940:C:T |
| Lung | sqtl | 1.0e-17 | -0.62 | 20:45909788:T:C |
| Esophagus Muscularis | eqtl | 3.2e-17 | +0.28 | 20:45919331:C:T |
| Colon Sigmoid | eqtl | 5.6e-17 | +0.37 | 20:45919331:C:T |
| Nerve Tibial | sqtl | 5.8e-16 | -0.52 | 20:45909788:T:C |
| Artery Tibial | sqtl | 9.8e-16 | -0.61 | 20:45909845:G:T |
| Adipose Visceral Omentum | eqtl | 1.8e-15 | +0.26 | 20:45919331:C:T |
| Adipose Subcutaneous | eqtl | 3.2e-15 | +0.25 | 20:45919331:C:T |
| Thyroid | eqtl | 5.3e-15 | +0.27 | 20:45916409:C:T |
| Skin Sun Exposed Lower leg | sqtl | 2.3e-14 | -0.51 | 20:45909788:T:C |
| Colon Transverse | eqtl | 2.7e-14 | -0.36 | 20:45916308:T:C |
FANTOM5 promoters
7 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187515 | 59.8544 | 1448 |
| 187509 | 0.5372 | 176 |
| 187514 | 0.3520 | 139 |
| 187511 | 0.2793 | 127 |
| 187510 | 0.1734 | 70 |
| 187513 | 0.1387 | 75 |
| 187512 | 0.1214 | 52 |
Top tissues by expression
showing 100 of 292 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right coronary artery | UBERON:0001625 | 99.04 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.81 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.74 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.70 | gold quality |
| gall bladder | UBERON:0002110 | 98.56 | gold quality |
| right ovary | UBERON:0002118 | 98.41 | gold quality |
| omental fat pad | UBERON:0010414 | 98.38 | gold quality |
| peritoneum | UBERON:0002358 | 98.33 | gold quality |
| endocervix | UBERON:0000458 | 98.31 | gold quality |
| body of pancreas | UBERON:0001150 | 98.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.27 | gold quality |
| coronary artery | UBERON:0001621 | 98.16 | gold quality |
| left ovary | UBERON:0002119 | 98.16 | gold quality |
| left coronary artery | UBERON:0001626 | 98.12 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.06 | gold quality |
| decidua | UBERON:0002450 | 97.95 | gold quality |
| thymus | UBERON:0002370 | 97.93 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.83 | gold quality |
| left uterine tube | UBERON:0001303 | 97.66 | gold quality |
| adrenal gland | UBERON:0002369 | 97.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.41 | gold quality |
| ectocervix | UBERON:0012249 | 97.20 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.12 | gold quality |
| ascending aorta | UBERON:0001496 | 97.05 | gold quality |
| body of uterus | UBERON:0009853 | 97.03 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.85 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.81 | gold quality |
| placenta | UBERON:0001987 | 96.63 | gold quality |
| synovial joint | UBERON:0002217 | 96.62 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.61 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 96.60 | gold quality |
| trachea | UBERON:0003126 | 96.47 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 96.46 | gold quality |
| right uterine tube | UBERON:0001302 | 96.34 | gold quality |
| pericardium | UBERON:0002407 | 96.30 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.26 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.22 | gold quality |
| apex of heart | UBERON:0002098 | 96.09 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.97 | gold quality |
| adipose tissue | UBERON:0001013 | 95.83 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.78 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.77 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.70 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.53 | gold quality |
| body of stomach | UBERON:0001161 | 95.52 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.51 | gold quality |
| lower esophagus | UBERON:0013473 | 95.49 | gold quality |
| right lung | UBERON:0002167 | 95.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.24 | gold quality |
| myometrium | UBERON:0001296 | 95.22 | gold quality |
| connective tissue | UBERON:0002384 | 95.09 | gold quality |
| ovary | UBERON:0000992 | 94.97 | gold quality |
| aorta | UBERON:0000947 | 94.94 | gold quality |
| amygdala | UBERON:0001876 | 94.94 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.93 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.75 | gold quality |
| skin of leg | UBERON:0001511 | 94.69 | gold quality |
| fundus of stomach | UBERON:0001160 | 94.39 | gold quality |
| tibial nerve | UBERON:0001323 | 94.39 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.38 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.32 | gold quality |
| vagina | UBERON:0000996 | 94.25 | gold quality |
| heart | UBERON:0000948 | 94.19 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.18 | gold quality |
| stomach | UBERON:0000945 | 94.16 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.98 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.95 | gold quality |
| vena cava | UBERON:0004087 | 93.91 | gold quality |
| hypothalamus | UBERON:0001898 | 93.90 | gold quality |
| urinary bladder | UBERON:0001255 | 93.78 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.70 | gold quality |
| lymph node | UBERON:0000029 | 93.69 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.64 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.63 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.53 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.44 | gold quality |
| popliteal artery | UBERON:0002250 | 93.38 | gold quality |
| cranial nerve II | UBERON:0000941 | 93.37 | gold quality |
| tibial artery | UBERON:0007610 | 93.37 | gold quality |
| zone of skin | UBERON:0000014 | 93.35 | gold quality |
| putamen | UBERON:0001874 | 93.27 | gold quality |
| caecum | UBERON:0001153 | 93.26 | gold quality |
| mammalian vulva | UBERON:0000997 | 93.25 | gold quality |
| transverse colon | UBERON:0001157 | 93.25 | gold quality |
| esophagus | UBERON:0001043 | 93.23 | gold quality |
| ventricular zone | UBERON:0003053 | 93.23 | gold quality |
| caput epididymis | UBERON:0004358 | 93.07 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.81 | gold quality |
| saphenous vein | UBERON:0007318 | 92.61 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.38 | gold quality |
| mouth mucosa | UBERON:0003729 | 92.33 | gold quality |
| small intestine | UBERON:0002108 | 91.95 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.68 | gold quality |
| urethra | UBERON:0000057 | 91.66 | gold quality |
| spinal cord | UBERON:0002240 | 91.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.53 | gold quality |
| nipple | UBERON:0002030 | 91.52 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.44 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 18.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 4908.27 |
| E-MTAB-6678 | yes | 4263.25 |
| E-GEOD-84465 | yes | 3251.42 |
| E-MTAB-6701 | yes | 2592.28 |
| E-GEOD-124472 | yes | 1900.71 |
| E-CURD-79 | yes | 1725.80 |
| E-MTAB-6911 | yes | 521.53 |
| E-MTAB-8142 | yes | 44.00 |
| E-MTAB-10553 | yes | 42.94 |
| E-HCAD-5 | yes | 32.89 |
| E-MTAB-10287 | yes | 22.35 |
| E-GEOD-81547 | yes | 21.99 |
| E-HCAD-10 | yes | 20.60 |
| E-GEOD-93593 | yes | 16.82 |
| E-CURD-112 | yes | 16.70 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Adipose tissue | tissue | 409.2 | not detected |
| Placenta | tissue | 402.9 | not detected |
| Urinary bladder | tissue | 316.2 | not detected |
| Choroid plexus | tissue | 299.7 | |
| Pancreas | tissue | 279.9 | not detected |
| Superior colliculi | tissue | 270.2 | |
| Substantia nigra | tissue | 225.5 | |
| Thymus | tissue | 214.2 | |
| Periaqueductal gray | tissue | 203.9 | |
| Spinal cord | tissue | 201.0 | |
| Hypothalamus | tissue | 184.4 | |
| Medulla oblongata | tissue | 180.9 | |
| Gallbladder | tissue | 170.7 | not detected |
| Smooth muscle | tissue | 169.8 | not detected |
| Pons | tissue | 164.2 | |
| Midbrain | tissue | 152.1 | |
| Septum | tissue | 150.9 | |
| Thalamus | tissue | 142.2 | |
| Hippocampal formation | tissue | 139.7 | |
| Ovary | tissue | 136.1 | not detected |
| Salivary gland | tissue | 124.3 | not detected |
| Cervix | tissue | 119.2 | not detected |
| Ventral forebrain | tissue | 116.6 | |
| Amygdala | tissue | 114.5 | |
| Corpus callosum | tissue | 112.0 | |
| Vagina | tissue | 106.0 | not detected |
| Basal ganglia | tissue | 105.9 | not detected |
| Entorhinal cortex | tissue | 105.9 | |
| Putamen | tissue | 104.5 | |
| Caudate putamen | tissue | 98.1 | |
| Adrenal gland | tissue | 91.9 | not detected |
| Cerebral cortex | tissue | 87.9 | not detected |
| Temporal cortex | tissue | 87.9 | |
| Motor cortex | tissue | 83.9 | |
| Hippocampus | tissue | 82.0 | not detected |
| Frontal cortex | tissue | 78.7 | |
| Insular cortex | tissue | 78.5 | |
| Prefrontal cortex | tissue | 77.1 | |
| Olfactory bulb | tissue | 76.8 | |
| Appendix | tissue | 75.7 | not detected |
| Retrosplenial cortex | tissue | 73.7 | |
| Fallopian tube | tissue | 72.7 | not detected |
| Nucleus accumbens | tissue | 72.5 | |
| Locus coeruleus | tissue | 69.8 | |
| Retrosplenial and cingulate cortex | tissue | 69.5 | |
| Epididymis | tissue | 68.6 | not detected |
| Somatosensory cortex | tissue | 68.4 | |
| Seminal vesicle | tissue | 67.5 | not detected |
| Endometrium 1 | tissue | 66.3 | not detected |
| Occipital cortex | tissue | 63.5 | |
| Skin 1 | tissue | 60.3 | not detected |
| Esophagus | tissue | 58.2 | not detected |
| Lymph node | tissue | 57.4 | not detected |
| Cerebellum | tissue | 57.2 | not detected |
| Heart muscle | tissue | 53.1 | not detected |
| Lung | tissue | 49.4 | not detected |
| Colon | tissue | 44.1 | not detected |
| Breast | tissue | 43.2 | not detected |
| Rectum | tissue | 39.8 | not detected |
| Postcentral gyrus | tissue | 39.4 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Periaquaductal grey, lateral (206.4), Ventral spinal cord (201.0), Dorsal spinal cord (192.4), Blood vessel (169.7), Dorsal raphe nucleus (162.7).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1, GLI1, NR0B2, NR1H2, NR1H3, NR1H4, TCF3
miRNA regulators (miRDB)
Targeting PLTP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
18 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-615-5P | 98.10 | 63.76 | 591 |
| HSA-MIR-891A-3P | 98.05 | 67.99 | 970 |
| HSA-MIR-1322 | 97.98 | 68.96 | 625 |
| HSA-MIR-4438 | 97.96 | 63.70 | 947 |
| HSA-MIR-6737-5P | 97.75 | 66.54 | 1044 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-1225-5P | 96.76 | 66.85 | 417 |
| HSA-MIR-184 | 94.24 | 64.40 | 152 |
Functional genomics
gnomAD constraint: pLI 2.85e-12, LOEUF 1, missense Z 0.888 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000372431 — one region, missense o/e 0.94.
Literature-anchored findings (GeneRIF, showing 40)
- Human PLTP expressed in plasma from transgenic mice contributes to the formation of pre beta-HDL, whereas the expression of human cholesterol ester transfer protein does not affect this process. (PMID:11716766)
- This protein and pre-beta-high density lipoprotein are degraded by mast cell chymase, the high affinity efflux of cholesterol from macrophage foam cells is impaired. (PMID:12531890)
- The phospholipid transfer protein gene is a liver X receptor target expressed by macrophages in atherosclerotic lesions. (PMID:12612088)
- Elevation of PLTP activity results in rapid disposal of cholesterol from the body via increased conversion into bile acids and subsequent excretion. (PMID:12649089)
- PLTP is expressed by macrophages, is regulated by cholesterol loading, and is present in atherosclerotic lesions (PMID:12730304)
- elevated PLTP activity in hypertriglyceridemia is related to insulin resistance and not to increased PLTP mass (PMID:12754275)
- HepG2-derived PLTP resembles in several aspects the high-activity form of PLTP found in human plasma (PMID:12810820)
- PLTP is present in human atherosclerotic lesions, and its distribution suggests roles for PLTP in both cellular cholesterol metabolism and lipoprotein retention on extracellular matrix (PMID:12835223)
- seminal PLTP concentrations represented 25% of the concentration measured in blood plasma; seminal PLTP activity was partially associated with prostasomes; higher PLTP activity was measured in seminal plasma samples with low seminal vesicle secretions (PMID:12837922)
- PLTP concentration serve as a predictor of Coronary disease, independent of HDL cholesterol, triglycerides and other established risk factors. (PMID:14695459)
- expression of PLTP results in increased atherosclerosis in spite of reduced apoB-containing lipoproteins, by reduction of HDL and of HDL-associated antioxidant enzyme activities (PMID:14993244)
- Phospholipid transfer protein is emerging as a multifaceted and multifunctional player in lipid and lipoprotein metabolism [review]. (PMID:15166780)
- patthophysiologic role of PLTP in decreasing the vitamin E content of apolipoprotein B-containing lipoproteins in Type 2 diabetes. (PMID:15448094)
- A major role for stimulated phospholipid transfer protein (PLTP) activity is identified in the recycling of pre-beta 1-high density lipoprotein during reverse cholesterol transport. (PMID:15544352)
- The findings of reduced PLTP activity in AD CSF, and the observation that PLTP can influence apoE secretion in astrocytes suggest a potential link between alterations in the brain lipid metabolism and AD pathogenesis. (PMID:15795933)
- ApoE proteoliposomes induced a concentration-dependent activation of low-activity form of PLTP. (PMID:15845396)
- Human tear fluid contains catalytically active phospholipid transfer protein (PLTP), which resembles the active form of PLTP present in plasma. (PMID:15924430)
- These findings indicate that PLTP gene variation is an important determinant of plasma lipoproteins and affects disorders of HDL metabolism. (PMID:16388083)
- The increase in PLTP activity in type 2 diabetes is partly related to the changes in apolipoprotein E. (PMID:16389649)
- Active plasma phospholipid transfer protein is associated with apoA-I- but not apoE-containing lipoproteins. (PMID:16520487)
- Association between the decrease in PLTP activity and aapolipoprotein E during statin treatment supports the hypothesis that apoE may prevent PLTP inactivation in diabetes. (PMID:16644710)
- results suggest that secretion-competent PLTP requires glycosylation but that no single glycosylation site is required (PMID:16862459)
- PLTP is capable of transferring lipids by a shuttle mechanism and formation of a ternary complex between PLTP, acceptor, and donor particles is not necessary for phospholipid transfer (PMID:17260960)
- Lipolysis of triglyceride-rich lipoproteins and their remodelling by PLTP interact to disturb cellular phospholipid flux and intracellular signaling processes, ultimately leading to apoptosis in human macrophages and endothelial cells. (PMID:17272752)
- We resequenced candidate genes for HDL regulation and identified several functional nonsynonymous mutations including 1 in phospholipid transfer protein (PLTP), leaving 88% (110/124) of HDL deficient subjects without a genetic diagnosis. (PMID:17303779)
- phospholipid and cholesteryl ester transfer proteins are important in very low and high-density lipoprotein metabolism and display concerted actions in patients with type 2 diabetes [review] (PMID:17495597)
- in non-diabetic, non-smoking subjects low rather than high PLTP activity is a marker for the presence of peripheral arterial disease (PMID:17553507)
- the potential interaction between human plasma phospholipid transfer protein (and apolipoprotein A-I (apoA-I), double transgenic animals (hPLTPtg/hApoAItg) were compared with hApoAItg mice. (PMID:17761633)
- PTLP activity is positively associated with serum ALT1, GOT1 and GOT2 in type 2 diabetes mellitus and metabolic syndrome. (PMID:17877759)
- Cholesterol efflux from macrophage foam cells is enhanced by active PLTP through generation of two types of acceptor particles. (PMID:17900150)
- Increased PLTP activity associated with the impaired cellular cholesterol efflux in type 2 diabetic subjects with coronary artery disease. (PMID:17917406)
- it is concluded that apoE enhances the capacity of PLTP to remodel HDL but reduces the ability of HDL to participate in PLTP-mediated phospholipid transfers. (PMID:17921435)
- ABCA1-dependent cholesterol efflux requires an amphipathic helical region of the N-terminal barrel of phospholipid transfer protein (PMID:18287097)
- Acute elevation of PLTP activity destabilizes atherosclerotic lesions and aggravates pre-existing atherosclerosis. (PMID:18421000)
- Association of rs2294213 with HDL-C levels into the extremes of the HDL distribution. (PMID:19013296)
- Elevation of systemic PLTP, but not macrophage-PLTP, impairs macrophage reverse cholesterol transport in transgenic mice. (PMID:19100548)
- The results confirm the atherogenic behavior of PLTP in coronary artery disease. (PMID:19135989)
- These findings indicate that plasma HDL level is an important regulator of plasma PLTP and might play a role in the stabilization of PLTP in plasma. (PMID:19422933)
- PLTP activity may represent a novel marker of left ventricular systolic dysfunction in patients with known or suspected coronary artery disease. (PMID:19446293)
- PLTP may be an important modulator of signal transduction pathways in human neurons. (PMID:19472218)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pltp | ENSDARG00000104495 |
| mus_musculus | Pltp | ENSMUSG00000017754 |
| rattus_norvegicus | Pltp | ENSRNOG00000016488 |
| caenorhabditis_elegans | WBGENE00003812 | |
| caenorhabditis_elegans | WBGENE00008512 | |
| caenorhabditis_elegans | F10D11.6 | WBGENE00008652 |
| caenorhabditis_elegans | WBGENE00015544 | |
| caenorhabditis_elegans | WBGENE00015545 | |
| caenorhabditis_elegans | WBGENE00016951 | |
| caenorhabditis_elegans | WBGENE00018403 | |
| caenorhabditis_elegans | WBGENE00020563 | |
| caenorhabditis_elegans | WBGENE00022627 |
Paralogs (12): BPIFB2 (ENSG00000078898), CETP (ENSG00000087237), BPI (ENSG00000101425), BPIFB1 (ENSG00000125999), LBP (ENSG00000129988), BPIFA2 (ENSG00000131050), BPIFA3 (ENSG00000131059), BPIFB6 (ENSG00000167104), BPIFC (ENSG00000184459), BPIFB3 (ENSG00000186190), BPIFB4 (ENSG00000186191), BPIFA1 (ENSG00000198183)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:103151) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 26 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased circulating HDL cholesterol level | 2 |
| abnormal circulating cholesterol level | 1 |
| increased circulating LDL cholesterol level | 1 |
| impaired fertilization | 1 |
| abnormal cornea morphology | 1 |
| dry eyes | 1 |
| reduced male fertility | 1 |
| decreased circulating triglyceride level | 1 |
| abnormal caput epididymis morphology | 1 |
| abnormal cauda epididymis morphology | 1 |
| asthenozoospermia | 1 |
| abnormal cellular cholesterol metabolism | 1 |
| decreased circulating phospholipid level | 1 |
| abnormal sperm physiology | 1 |
| abnormal phospholipid level | 1 |
| increased circulating VLDL cholesterol level | 1 |
| decreased circulating cholesterol level | 1 |
| abnormal cornea stroma morphology | 1 |
| abnormal cornea epithelium morphology | 1 |
| abnormal vitamin E level | 1 |
| decreased circulating HDL phospholipid level | 1 |
| decreased circulating non-HDL phospholipid level | 1 |
| abnormal circulating non-HDL cholesterol level | 1 |
| increased cornea epithelium thickness | 1 |
| disorganized cornea epithelium | 1 |
+1 more (showing top 25).
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| SPATA25 | protein-coding | 128497 |
| NEURL2 | protein-coding | 140825 |
| CTSA | protein-coding | 5476 |
| ZNF335 | protein-coding | 63925 |
| PCIF1 | protein-coding | 63935 |
| ZSWIM3 | protein-coding | 140831 |
| ZSWIM1 | protein-coding | 90204 |
| ACOT8 | protein-coding | 10005 |
| SNX21 | protein-coding | 90203 |
| SLC12A5-AS1 | ncRNA | 109729184 |
| MMP9 | protein-coding | 4318 |
Protein
Protein identifiers
Phospholipid transfer protein — P55058 (reviewed: P55058)
Alternative names: Lipid transfer protein II
All UniProt accessions (1): P55058
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the transfer of phospholipids and free cholesterol from triglyceride-rich lipoproteins (low density lipoproteins or LDL and very low density lipoproteins or VLDL) into high-density lipoproteins (HDL) as well as the exchange of phospholipids between triglyceride-rich lipoproteins themselves. Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylinositol, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Plays an important role in HDL remodeling which involves modulating the size and composition of HDL. 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 phosphatidylcholine from phospholipid vesicles to HDL, and an inactive form that lacks this capability.
Subcellular location. Secreted. Nucleus.
Tissue specificity. Widely expressed. Highest level of expression in the ovary, thymus and placenta, with moderate levels found in the pancreas, small intestine, testis, lung and prostrate. Low level expression in the kidney, liver and spleen, with very low levels found in the heart, colon, skeletal muscle, leukocytes and brain. Expressed in the cortical neurons.
Post-translational modifications. Glycosylation is necessary for secretion and its phospholipid transfer activity.
Similarity. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P55058-1 | 1 | yes |
| P55058-2 | 2 | |
| P55058-3 | 3 | |
| P55058-4 | 4 |
RefSeq proteins (4): NP_001229849, NP_001229850, NP_006218, NP_872617 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001124 | Lipid-bd_serum_glycop_C | Domain |
| IPR017942 | Lipid-bd_serum_glycop_N | Domain |
| IPR017943 | Bactericidal_perm-incr_a/b_dom | Homologous_superfamily |
| IPR017954 | Lipid-bd_serum_glycop_CS | Conserved_site |
| IPR030675 | BPI/LBP | Family |
| IPR032942 | BPI/LBP/Plunc | Family |
Pfam: PF01273, PF02886
Catalyzed reactions (Rhea)
- a 1,2-diacyl-sn-glycero-3-phosphate(in) = a 1,2-diacyl-sn-glycero-3-phosphate(out) (RHEA:36435)
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out) (RHEA:38691)
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) (RHEA:38895)
- a 1,2-diacyl-sn-glycerol(in) = a 1,2-diacyl-sn-glycerol(out) (RHEA:39723)
- a sphingomyelin(in) = a sphingomyelin(out) (RHEA:39727)
- a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycerol)(out) (RHEA:39743)
- 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine(in) = 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine(out) (RHEA:46488)
- 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine(in) = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine(out) (RHEA:46492)
- N-(hexadecanoyl)-sphing-4-enine-1-phosphocholine(in) = N-(hexadecanoyl)-sphing-4-enine-1-phosphocholine(out) (RHEA:46496)
UniProt features (33 total): mutagenesis site 11, sequence variant 7, glycosylation site 6, splice variant 3, sequence conflict 3, signal peptide 1, chain 1, disulfide bond 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55058-F1 | 89.36 | 0.71 |
Human Protein Atlas
Protein class: Transporters, Transporter channels and pores, Predicted secreted proteins, Predicted intracellular proteins, Plasma proteins
Protein evidence: Evidence at protein level
Antibody reliability (HPA): IH approved
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1)
| Type | Positions |
|---|---|
| Disulfide bond | 146–185 |
Glycosylation sites (6)
| Type | Positions |
|---|---|
| N-linked (glcnac…) (complex) asparagine | 64, 117, 245 |
| N-linked (glcnac…) asparagine | 94, 143, 398 |
Mutagenesis-validated functional residues (11)
| Position | Phenotype |
|---|---|
| 64 | increased nuclear localization; when associated with a-94; a-117 and a-143. |
| 66 | significant reduction in phospholipid transfer activity. no effect on secretion. |
| 94 | increased nuclear localization; when associated with a-64; a-117 and a-143. |
| 96 | significant reduction in phospholipid transfer activity. increased secretion. |
| 117 | increased nuclear localization; when associated with a-64; a-94 and a-143. |
| 119 | significant reduction in phospholipid transfer activity. increased secretion. |
| 143 | increased nuclear localization; when associated with a-64; a-94 and a-117. |
| 145 | significant reduction in phospholipid transfer activity. reduced secretion. |
| 176 | significant reduction in hdl-binding and absence of lipid transfer activity. |
| 247 | significant reduction in phospholipid transfer activity. reduced secretion. |
| 400 | significant reduction in phospholipid transfer activity. reduced secretion. |
Function
Pathways and Gene Ontology
Reactome pathways
2 curated (TAS) of 2; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
2 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-8964058 | HDL remodeling | curated |
| R-HSA-9029569 | NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux | curated |
MSigDB gene sets: 288 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, WALLACE_PROSTATE_CANCER_RACE_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, MODULE_151, SP3_Q3, GOBP_POSITIVE_REGULATION_OF_CHOLESTEROL_EFFLUX, GOBP_REGULATION_OF_CHOLESTEROL_EFFLUX, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_POSITIVE_REGULATION_OF_STEROL_TRANSPORT, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_CHOLESTEROL_EFFLUX, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP
GO Biological Process (9): lipid metabolic process (GO:0006629), lipid transport (GO:0006869), positive regulation of cholesterol efflux (GO:0010875), phospholipid transport (GO:0015914), high-density lipoprotein particle remodeling (GO:0034375), ceramide transport (GO:0035627), glycolipid transport (GO:0046836), sterol transport (GO:0015918), intermembrane lipid transfer (GO:0120009)
GO Molecular Function (22): high-density lipoprotein particle binding (GO:0008035), phosphatidylethanolamine binding (GO:0008429), phosphatidylinositol transfer activity (GO:0008526), diacylglycerol binding (GO:0019992), low-density lipoprotein particle binding (GO:0030169), phosphatidylcholine binding (GO:0031210), very-low-density lipoprotein particle binding (GO:0034189), phosphatidic acid binding (GO:0070300), ceramide binding (GO:0097001), phospholipid transfer activity (GO:0120014), ceramide transfer activity (GO:0120017), phosphatidylcholine transfer activity (GO:0120019), cholesterol transfer activity (GO:0120020), diacylglyceride transfer activity (GO:0140337), sphingomyelin transfer activity (GO:0140338), phosphatidylglycerol transfer activity (GO:0140339), cerebroside transfer activity (GO:0140340), phosphatidylglycerol binding (GO:1901611), phosphatidylethanolamine transfer activity (GO:1904121), phosphatidic acid transfer activity (GO:1990050), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (3): extracellular region (GO:0005576), nucleus (GO:0005634), high-density lipoprotein particle (GO:0034364)
Reactome top-level categories
2 top-level categories:
| Category | Pathways |
|---|---|
| Plasma lipoprotein remodeling | 1 |
| NR1H2 and NR1H3-mediated signaling | 1 |
GO top-level categories
35 GO namespaces:
| Category | Terms |
|---|---|
| lipid transport | 5 |
| phospholipid binding | 5 |
| phospholipid transfer activity | 5 |
| lipoprotein particle binding | 3 |
| lipid transfer activity | 3 |
| anion binding | 2 |
| sphingolipid transfer activity | 2 |
| primary metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| regulation of cholesterol efflux | 1 |
| positive regulation of cholesterol transport | 1 |
| cholesterol efflux | 1 |
| organophosphate ester transport | 1 |
| plasma lipoprotein particle remodeling | 1 |
| nitrogen compound transport | 1 |
| carbohydrate derivative transport | 1 |
| organic hydroxy compound transport | 1 |
| membrane organization | 1 |
| phosphatidylinositol binding | 1 |
| lipid binding | 1 |
| cation binding | 1 |
| quaternary ammonium group binding | 1 |
| protein binding | 1 |
| sphingolipid binding | 1 |
| phospholipid transport | 1 |
| ceramide binding | 1 |
| phosphatidylcholine binding | 1 |
| cholesterol binding | 1 |
| sterol transfer activity | 1 |
| glycolipid transfer activity | 1 |
| ceramide transfer activity | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| plasma lipoprotein particle | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 26 of 35 annotations. The rest are phylogenetic / computational / electronic (IEA).
26 experimentally-supported GO terms:
Protein interactions and networks
STRING
showing 15 of 1,142 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLTP | APOA1 | P02647 | 846 |
| PLTP | BPIFA1 | Q9NP55 | 825 |
| PLTP | APOB | P04114 | 806 |
| PLTP | LPL | P06858 | 749 |
| PLTP | LCAT | P04180 | 737 |
| PLTP | SCARB1 | Q8WTV0 | 729 |
| PLTP | LIPC | P11150 | 728 |
| PLTP | ABCA1 | O95477 | 715 |
| PLTP | NPC1L1 | Q9UHC9 | 713 |
| PLTP | ABCG1 | P45844 | 688 |
| PLTP | CYP7A1 | P22680 | 680 |
| PLTP | APOA2 | P02652 | 676 |
| PLTP | LIPG | Q9Y5X9 | 654 |
| PLTP | APOE | P02649 | 650 |
| PLTP | APOD | P05090 | 640 |
IntAct
Human interaction partners of PLTP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
4 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| SEL1L3 | association | 0.530 | 1 |
| CREB3 | physical association | 0.490 | 2 |
| CANX | association | 0.350 | 1 |
| CLGN | association | 0.350 | 1 |
BioGRID (88 interactions; top human partners by supporting records): ADPGK (Affinity Capture-MS; 3 records), CANX (Affinity Capture-MS; 3 records), DHFRL1 (Affinity Capture-MS; 3 records), EPB41L5 (Affinity Capture-MS; 3 records), FAM69A (Affinity Capture-MS; 3 records), GLB1L2 (Affinity Capture-MS; 3 records), SEL1L3 (Affinity Capture-MS; 3 records), UGT8 (Affinity Capture-MS; 3 records), APOA1 (Reconstituted Complex; 2 records), APOA2 (Reconstituted Complex; 2 records), CLGN (Affinity Capture-MS; 2 records), DDX31 (Affinity Capture-MS; 2 records), DPEP2 (Affinity Capture-MS; 2 records), FUT10 (Affinity Capture-MS; 2 records), GALNT7 (Affinity Capture-MS; 2 records)
Disease & clinical
Genetic variants
Variant evidence for PLTP: 234 ClinVar records (0 pathogenic / likely pathogenic); 91 GWAS associations.
ClinVar
234 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 134 |
| Likely benign | 69 |
| Benign | 13 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 1,230):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 20:45899460–45899461 | donor_loss | 1.0000 | 5 |
| 20:45899539–45899540 | acceptor_loss | 1.0000 | 6 |
| 20:45899620–45899621 | donor_loss | 1.0000 | 3 |
| 20:45899686–45899687 | acceptor_loss | 1.0000 | 6 |
| 20:45899697 | acceptor_gain | 1.0000 | |
| 20:45902265–45902266 | donor_loss | 1.0000 | 5 |
| 20:45902335–45902336 | acceptor_loss | 1.0000 | 5 |
| 20:45902339 | acceptor_gain | 1.0000 | |
| 20:45902345 | acceptor_gain | 1.0000 | |
| 20:45902438–45902439 | donor_loss | 1.0000 | 4 |
AlphaMissense
818 missense substitutions predicted likely pathogenic (of 3,188 scored), across 273 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M263 | 9 | 0.831 | 0.975 |
| F101 | 8 | 0.872 | 0.976 |
| D112 | 8 | 0.862 | 0.905 |
| F234 | 8 | 0.854 | 0.966 |
| F464 | 8 | 0.852 | 0.964 |
| F157 | 8 | 0.788 | 0.948 |
| C146 | 7 | 0.982 | 0.991 |
| C185 | 7 | 0.981 | 0.989 |
| D216 | 7 | 0.906 | 0.952 |
| F455 | 7 | 0.893 | 0.986 |
| F41 | 7 | 0.882 | 0.970 |
| F238 | 7 | 0.849 | 0.974 |
| F393 | 7 | 0.827 | 0.947 |
| F82 | 7 | 0.818 | 0.905 |
| F239 | 7 | 0.810 | 0.942 |
| F273 | 7 | 0.794 | 0.885 |
| D461 | 7 | 0.723 | 0.809 |
| G236 | 6 | 0.892 | 0.974 |
| R103 | 6 | 0.890 | 0.962 |
| D210 | 6 | 0.877 | 0.939 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
4 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | unfavorable | 3.07e-08 |
| Kidney Renal Clear Cell Carcinoma (validation) | unfavorable | 3.18e-06 |
| Glioblastoma Multiforme (validation) | unfavorable | 0.000367 |
| Stomach Adenocarcinoma (TCGA) | unfavorable | 0.000506 |
Disease associations
OMIM: gene MIM:172425 | disease phenotypes:
GWAS associations
showing 30 of 91 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010242_58 | HDL cholesterol levels | 7e-143 |
| GCST010244_339 | Triglyceride levels | 2e-109 |
| GCST008084_144 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1e-69 |
| GCST010243_110 | Apolipoprotein B levels | 1e-59 |
| GCST008084_9 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 6e-57 |
| GCST008075_72 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 8e-56 |
| GCST000533_14 | Lipid metabolism phenotypes | 3e-49 |
| GCST000533_17 | Lipid metabolism phenotypes | 1e-45 |
| GCST008075_214 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2e-45 |
| GCST008083_38 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 8e-44 |
| GCST008074_32 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1e-43 |
| GCST001639_6 | Metabolite levels | 2e-42 |
| GCST000533_15 | Lipid metabolism phenotypes | 4e-40 |
| GCST002223_52 | HDL cholesterol | 5e-40 |
| GCST004232_72 | HDL cholesterol levels | 6e-39 |
| GCST000533_16 | Lipid metabolism phenotypes | 8e-37 |
| GCST002216_4 | Triglycerides | 2e-34 |
| GCST001392_3 | Lipid metabolism phenotypes | 2e-31 |
| GCST003680_10 | C-reactive protein levels or HDL-cholesterol levels (pleiotropy) | 5e-29 |
| GCST008074_101 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 5e-27 |
| GCST008085_173 | HDL cholesterol levels in current drinkers | 9e-27 |
| GCST008083_10 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2e-26 |
| GCST011348_39 | High density lipoprotein cholesterol levels | 2e-25 |
| GCST003681_11 | C-reactive protein levels or triglyceride levels (pleiotropy) | 2e-24 |
| GCST011345_37 | Triglyceride levels | 3e-24 |
| GCST000755_34 | HDL cholesterol | 2e-22 |
| GCST008087_65 | Triglyceride levels in current drinkers | 3e-22 |
| GCST010241_40 | Apolipoprotein A1 levels | 1e-21 |
| GCST002897_9 | Triglycerides | 9e-21 |
| GCST008070_62 | HDL cholesterol levels | 8e-20 |
EFO canonical traits (from GWAS)
13 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004529 | lipid measurement |
| EFO:0004723 | coronary artery calcification |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0008475 | mood instability measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5962 (SINGLE PROTEIN)
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
15 measured of 15 human assays (15 total across all organisms); most potent 15 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| N-(4,5-diphenyl-1,3-selenazol-2-yl)-3,4-dihydroxybenzamide | IC50 | 8000 nM |
| N-(5-butyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)-3,4,5-trihydroxybenzamide | IC50 | 10000 nM |
| N-(5-benzyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)hexanamide | IC50 | 25000 nM |
| N-(4,5-diphenyl-1,3-selenazol-2-yl)-3,4,5-trihydroxybenzamide | IC50 | 25000 nM |
| N-(5-benzyl-4-(4-methoxyphenyl)-1,3-selenazol-2-yl)-3,4-dimethoxybenzamide | IC50 | 30000 nM |
| N-(5-ethyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)-3,4,5-trihydroxybenzamide | IC50 | 32000 nM |
| N-(5-benzyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)-3,4,5-trihydroxybenzamide | IC50 | 32000 nM |
| N-(5-benzyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)-3,4-dihydroxybenzamide | IC50 | 35000 nM |
| 4-chloro-N-(5-ethyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)benzamide | IC50 | 60000 nM |
| N-(5-butyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)acetamide | IC50 | 60000 nM |
| N-(5-butyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl)-4-chlorobenzamide | IC50 | 60000 nM |
| N-(5-butyl-4-(4-methoxyphenyl)-1,3-selenazol-2-yl)-3,4-dimethoxybenzamide | IC50 | 80000 nM |
| N-(5-benzyl-4-(4-methoxyphenyl)-1,3-selenazol-2-yl)-4-nitrobenzamide | IC50 | 85000 nM |
| N-(5-ethyl-4-(4-methoxyphenyl)-1,3-selenazol-2-yl)-3,4-dimethoxybenzamide | IC50 | 100000 nM |
| N-(5-butyl-4-(4-methoxyphenyl)-1,3-selenazol-2-yl)-3,4,5-trimethoxybenzamide | IC50 | 150000 nM |
ChEMBL bioactivities
2 potent at pChembl≥5 of 40 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.10 | IC50 | 8000 | nM | CHEMBL1222668 |
| 5.00 | IC50 | 1e+04 | nM | CHEMBL1222737 |
PubChem BioAssay actives
2 with measured affinity, of 23 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| N-(4,5-diphenyl-1,3-selenazol-2-yl)-3,4-dihydroxybenzamide | 501651: Inhibition of PLTP | ic50 | 8.0000 | uM |
| N-[5-butyl-4-(4-hydroxyphenyl)-1,3-selenazol-2-yl]-3,4,5-trihydroxybenzamide | 501651: Inhibition of PLTP | ic50 | 10.0000 | uM |
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 6 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 5 |
| bisphenol A | decreases expression, increases expression, affects cotreatment | 3 |
| Aflatoxin B1 | affects expression, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| JP8 aviation fuel | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| T0901317 | increases expression | 1 |
| GW 501516 | affects binding, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| candoxin | decreases expression | 1 |
| obeticholic acid | decreases expression | 1 |
| GW 3965 | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
ChEMBL screening assays
10 unique, capped per target: 10 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1015039 | Binding | Inhibition of PLTP activity assessed as phosphatidylcholine transferred from [3H]phosphatidylcholine (dipalmitoyl)-labeled liposomes to HDL by cell based liquid scintillation counter | Design, synthesis, and biological evaluation of (2R,alphaS)-3,4-dihydro-2-[3-(1,1,2,2-tetrafluoroethoxy)phenyl]-5-[3-(trifluoromethoxy)-phenyl]-alpha-(trifluoromethyl)-1(2H)-quinolineethanol as potent and orally active cholesteryl ester transfer protein inhibitor. — *J Med Chem* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for PLTP across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): pathological gambling