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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PITPNA
phosphatidylinositol transfer protein alpha
Chromosome 17 · 17p13.3
NCBI Gene: 5306Ensembl: ENSG00000174238.16HGNC: HGNC:9001UniProt: B4E1U1
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphatidylcholine intramembrane carrier activitylipid bindingprotein bindingphospholipid transportneurodegenerative diseaseresponse to bronchodilatorrosaceafood allergy
✦AI Summary

PITPNA (phosphatidylinositol transfer protein alpha) is a lipid transfer protein that catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between cellular membranes 123. The protein shows substrate specificity, preferring PI and PC species with shorter saturated or monosaturated acyl chains, with preference order C16:1 > C16:0 > C18:1 > C18:0 for both lipid classes 4. In pancreatic beta cells, PITPNA plays a critical metabolic role by stimulating phosphatidylinositol 4-OH kinase activity to generate PtdIns-4-P in the trans-Golgi network, promoting insulin granule maturation and glucose-stimulated insulin secretion 5. PITPNA expression is markedly reduced in Type 2 diabetic human islets, and restoration of PITPNA in these islets reverses beta-cell dysfunction by normalizing insulin processing, granule docking, and proinsulin processing while alleviating ER stress 5. Clinically, the PITPNA locus has gained attention through its antisense RNA transcript PITPNA-AS1, which functions as an oncogenic competing endogenous RNA in multiple malignancies including hepatocellular carcinoma, glioblastoma, and gastric cancer through various microRNA-mediated regulatory axes 678. Notably, in ovarian cancer, PITPNA-AS1 acts as a tumor suppressor by regulating the miR-223-3p/RHOB axis 9. These findings identify PITPNA as a therapeutic target in both metabolic and malignant diseases.

Sources cited
1
PITPNA catalyzes phospholipid transfer between membranes
PMID: 10531358
2
PITPNA catalyzes phospholipid transfer between membranes
PMID: 14962392
3
PITPNA catalyzes PI and PC transfer with preference for shorter acyl chains
PMID: 15522822
4
PITPNA shows substrate specificity: C16:1 > C16:0 > C18:1 > C18:0 for both PI and PC
PMID: 22822086
5
PITPNA stimulates PtdIns-4-P synthesis in trans-Golgi network and is required for insulin granule maturation, GSIS, and is reduced in Type 2 diabetes
PMID: 37460527
6
PITPNA-AS1 acts as oncogenic ceRNA in hepatocellular carcinoma via miR-363-5p/PDGFD axis
PMID: 37253627
7
PITPNA-AS1 functions as oncogenic lncRNA in glioblastoma via miR-223-3p/EGFR/PI3K/AKT signaling
PMID: 34470587
8
PITPNA-AS1 promotes gastric cancer by inhibiting miR-92a-3p and increasing SOX4
PMID: 34496348
9
PITPNA-AS1 acts as tumor suppressor in ovarian cancer by regulating miR-223-3p/RHOB axis
PMID: 38753591
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
response to bronchodilatorOpen Targets
0.31Weak
rosaceaOpen Targets
0.25Weak
food allergyOpen Targets
0.18Weak
Abnormal central motor functionOpen Targets
0.16Weak
glaucomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
gastric cancerOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
amyotrophic lateral sclerosisOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.07Suggestive
spinocerebellar ataxia type 12Open Targets
0.06Suggestive
spastic ataxia 2Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PITPNM3Protein interaction93%PAFAH1B1Protein interaction86%SCARF1Protein interaction86%YWHAEProtein interaction79%CRKProtein interaction78%BHLHA9Protein interaction76%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
97%
Lung
77%
Heart
74%
Liver
65%
Ovary
54%
Gene Interaction Network
Click a node to explore
PITPNAPITPNM3PAFAH1B1SCARF1YWHAECRKBHLHA9
PROTEIN STRUCTURE
Preparing viewer…
PDB8PQO · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.26 [0.14–0.48]
RankingsWhere PITPNA stands among ~20K protein-coding genes
  • #8,713of 20,598
    Most Researched51
  • #2,814of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedPITPNA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
lncRNA PITPNA-AS1 promotes cell proliferation and metastasis in hepatocellular carcinoma by upregulating PDGFD.
PMID: 37253627
Aging (Albany NY) · 2023
1.00
2
Restoration of PITPNA in Type 2 diabetic human islets reverses pancreatic beta-cell dysfunction.
PMID: 37460527
Nat Commun · 2023
0.90
3
LncRNA PITPNA-AS1 stimulates cell proliferation and suppresses cell apoptosis in glioblastoma via targeting miR-223-3p/EGFR axis and activating PI3K/AKT signaling pathway.
PMID: 34470587
Cell Cycle · 2021
0.80
4
Diagnostic value of exosome-derived lncRNA PITPNA-AS1 in lung cancer.
PMID: 40342419
Front Immunol · 2025
0.70
5
PITPNA-AS1 Inhibits Cell Proliferation and Migration in Ovarian Cancer by Regulating the MIR-223-3p/RHOB Axis.
PMID: 38753591
Rev Invest Clin · 2024
0.60