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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PITPNM1
phosphatidylinositol transfer protein membrane associated 1
Chromosome 11 · 11q13.2
NCBI Gene: 9600Ensembl: ENSG00000110697.15HGNC: HGNC:9003UniProt: B2R787
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-plasma membrane contact sitephosphatidylinositol transfer activitycytosolreceptor tyrosine kinase bindingneurodegenerative diseaseretinal degenerationbreast cancer22q11.2 deletion syndrome
✦AI Summary

PITPNM1 (phosphatidylinositol transfer protein membrane associated 1) is a lipid transfer protein that catalyzes phosphatidylinositol (PI) transfer between membranes with binding affinity for PI > phosphatidic acid > phosphatidylcholine 1. As a multi-domain PITP family member 2, PITPNM1 functions as a PI/PA exchanger at endoplasmic reticulum-plasma membrane contact sites, maintaining phosphoinositide signaling 3. The protein regulates RHOA activity and cytoskeleton remodeling 4, is necessary for cytokinesis completion 5, and maintains Golgi apparatus structure and diacylglycerol levels 67. PITPNM1 supports protein export from the ER-Golgi 6 and binds calcium ions 8. Clinically, PITPNM1 shows disease relevance across multiple conditions. In osteoarthritis, the miR-490-5p/PITPNM1/PI3K/AKT axis regulates chondrogenic differentiation and chondrocyte homeostasis 9. PITPNM1 is essential for endothelial angiogenesis, with knockdown reducing cell viability, proliferation, migration, and VEGF-mediated AKT/ERK signaling 3. In breast cancer, elevated PITPNM1 expression predicts poor prognosis 10, enhances epithelial-mesenchymal transition, and promotes metastasis through PI3K/AKT and ERK1/2 pathways 11. PITPNM1 variants are associated with telomere length 12 and represent candidates for disease discovery 13.

Sources cited
1
PITPNM1 (phosphatidylinositol transfer protein membrane associated 1) is a lipid transfer protein that catalyzes phosphatidylinositol (PI) transfer between membranes with binding affinity for PI > phosphatidic acid > phosphatidylcholine .
PMID: 22822086
2
As a multi-domain PITP family member , PITPNM1 functions as a PI/PA exchanger at endoplasmic reticulum-plasma membrane contact sites, maintaining phosphoinositide signaling .
PMID: 23086419
3
As a multi-domain PITP family member , PITPNM1 functions as a PI/PA exchanger at endoplasmic reticulum-plasma membrane contact sites, maintaining phosphoinositide signaling .
PMID: 40010513
4
The protein regulates RHOA activity and cytoskeleton remodeling , is necessary for cytokinesis completion , and maintains Golgi apparatus structure and diacylglycerol levels , .
PMID: 11909959
5
The protein regulates RHOA activity and cytoskeleton remodeling , is necessary for cytokinesis completion , and maintains Golgi apparatus structure and diacylglycerol levels , .
PMID: 15125835
6
The protein regulates RHOA activity and cytoskeleton remodeling , is necessary for cytokinesis completion , and maintains Golgi apparatus structure and diacylglycerol levels , .
PMID: 15723057
7
PITPNM1 supports protein export from the ER-Golgi and binds calcium ions .
PMID: 10022914
8
In osteoarthritis, the miR-490-5p/PITPNM1/PI3K/AKT axis regulates chondrogenic differentiation and chondrocyte homeostasis .
PMID: 33240879
9
In breast cancer, elevated PITPNM1 expression predicts poor prognosis , enhances epithelial-mesenchymal transition, and promotes metastasis through PI3K/AKT and ERK1/2 pathways .
PMID: 34572478
10
In breast cancer, elevated PITPNM1 expression predicts poor prognosis , enhances epithelial-mesenchymal transition, and promotes metastasis through PI3K/AKT and ERK1/2 pathways .
PMID: 25179602
11
PITPNM1 variants are associated with telomere length and represent candidates for disease discovery .
PMID: 37216007
12
PITPNM1 variants are associated with telomere length and represent candidates for disease discovery .
PMID: 29197136
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
retinal degenerationOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
22q11.2 deletion syndromeOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.03Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.03Suggestive
hypertriglyceridemia 2Open Targets
0.03Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.03Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.03Suggestive
Combined hyperlipidemiaOpen Targets
0.03Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
congenital generalized lipodystrophy type 3Open Targets
0.03Suggestive
Generalized congenital lipodystrophy with myopathyOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
Townes-Brocks syndromeOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTK2BProtein interaction94%SLC26A5Protein interaction90%OCM2Protein interaction87%OCMProtein interaction83%RHOAProtein interaction74%OSBPProtein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
52%
Brain
50%
Liver
35%
Heart
32%
Ovary
11%
Gene Interaction Network
Click a node to explore
PITPNM1PTK2BSLC26A5OCM2OCMRHOAOSBP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O00562
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.50–0.74]
RankingsWhere PITPNM1 stands among ~20K protein-coding genes
  • #9,928of 20,598
    Most Researched42
  • #5,774of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedPITPNM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of miR-490-5p Promotes Human Adipose-Derived Stem Cells Chondrogenesis and Protects Chondrocytes via the PITPNM1/PI3K/AKT Axis.
PMID: 33240879
Front Cell Dev Biol · 2020
1.00
2
ER-Golgi membrane contact sites.
PMID: 32065234
Biochem Soc Trans · 2020
0.90
3
The role of Nir2, a lipid-transfer protein, in regulating endothelial cell functions.
PMID: 40010513
Biochim Biophys Acta Mol Cell Res · 2025
0.80
4
Genetic and clinical determinants of telomere length.
PMID: 37216007
HGG Adv · 2023
0.70
5
Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression.
PMID: 34572478
Biomolecules · 2021
0.60