PITPNM1 Gene - Phosphatidylinositol Transfer Protein Membrane Associated 1
Essential regulator of phosphoinositide signaling and synaptic vesicle trafficking
Gene Information Card
| Symbol | PITPNM1 |
|---|---|
| Full Name | Phosphatidylinositol Transfer Protein Membrane Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 9600 ncbi.nlm.nih.gov/gene/9600 |
| Ensembl ID | ENSG00000110697 |
| UniProt ID | O00562 |
| OMIM ID | 608722 |
| HGNC ID | 9004 |
| Aliases | Nir2, PITPNM, PITPNM1A, RDGB1 |
Description
PITPNM1 encodes a phosphatidylinositol transfer protein (PITP) that localizes to the membrane and plays a critical role in phosphoinositide signaling, vesicular trafficking, and lipid metabolism. It is involved in the regulation of synaptic vesicle recycling and is essential for normal retinal function. Mutations in this gene are associated with retinal dystrophies and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of phosphoinositide signaling in photoreceptor cells leads to impaired vesicle trafficking and cell death | OMIM #608722; ClinVar |
| Cone-rod dystrophy | Defective PITPNM1 alters lipid transfer and synaptic maintenance in cone and rod photoreceptors | ClinVar; PubMed studies |
| Cancer (various) | Altered expression of PITPNM1 affects cell proliferation and migration via PI3K/AKT pathway modulation | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Retina | 10.8 | High |
| Testis | 8.2 | Medium |
| Lung | 5.1 | Medium |
| Liver | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| SH-SY5Y | 11.0 | Neuronal model |
| HeLa | 7.8 | Moderate expression |
| A549 | 6.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.743G>A (p.Arg248Gln) | Missense | <0.01% | Impaired lipid transfer activity; associated with retinitis pigmentosa |
| c.1124T>C (p.Leu375Pro) | Missense | <0.01% | Disrupted membrane association; linked to cone-rod dystrophy |
| c.1567_1569del (p.Phe523del) | In-frame deletion | <0.01% | Altered protein stability; reported in retinal degeneration |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants reduce phosphatidylinositol transfer activity, leading to retinal degeneration.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type protein function in photoreceptor synapses.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Inositol phosphate metabolism (KEGG: hsa00562)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
PITPNM1 (Nir2) is a 1244-amino acid protein containing an N-terminal phosphatidylinositol transfer domain, a central DDHD domain, and a C-terminal membrane-binding region. It transfers phosphatidylinositol between membranes and is essential for maintaining phosphoinositide pools at the Golgi and synaptic vesicles. The protein is highly expressed in brain and retina, where it regulates neurotransmitter release and photoreceptor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNM1 Knockout HEK293 Cell Line | EDJ-KQ5994 | Human | 9600 | Details Get a Quote |
| PITPNM1 Knockout A-549 Cell Line | EDJ-KQ30937 | Human | 9600 | Details Get a Quote |
| PITPNM1 Knockout HCT 116 Cell Line | EDJ-KQ30938 | Human | 9600 | Details Get a Quote |
| PITPNM1 Knockout HeLa Cell Line | EDJ-KQ30939 | Human | 9600 | Details Get a Quote |
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