PITPNM3 Gene
Phosphatidylinositol Transfer Protein Membrane Associated 3
Gene Information Card
| Symbol | PITPNM3 |
|---|---|
| Full Name | Phosphatidylinositol Transfer Protein Membrane Associated 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 23760 ncbi.nlm.nih.gov/gene/23760 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q9BZ72 |
| OMIM ID | 608940 |
| HGNC ID | 21043 |
| Aliases | PITPNM3, PITPNM3, RDGBA, NIR1, NIR-1, PITPNM3 |
Description
PITPNM3 (Phosphatidylinositol Transfer Protein Membrane Associated 3) encodes a member of the phosphatidylinositol transfer protein family. The protein is involved in phospholipid transfer, membrane trafficking, and signal transduction. It is associated with retinal degeneration and has been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal degeneration (cone-rod dystrophy) | Impaired phosphatidylinositol transfer affecting photoreceptor function | OMIM #608940 |
| Breast cancer | Altered expression and potential oncogenic role | COSMIC, NCBI Gene |
| Colorectal cancer | Somatic mutations and copy number alterations | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Retina | 8.3 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| MCF7 | 7.4 | Moderate expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% | Unknown functional effect |
| c.567_568del (p.Glu190fs) | Frameshift | <0.001% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.002% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein and loss of phosphatidylinositol transfer activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported for PITPNM3.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol transfer activity (GO:0008526) | • lipid binding (GO:0008289) |
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • cytoplasm (GO:0005737) |
Pathways
• Phosphatidylinositol signaling system
• Membrane trafficking
Protein Summary
The PITPNM3 protein is a 987-amino acid phosphatidylinositol transfer protein that localizes to the cytoplasm and membranes. It mediates the transfer of phosphatidylinositol between membranes, playing a role in phospholipid metabolism, vesicular trafficking, and signal transduction. The protein contains a PITP domain and is highly expressed in brain and retina.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNM3 Knockout HEK293 Cell Line | EDJ-KQ9838 | Human | 83394 | Details Get a Quote |
| PITPNM3 Knockout HCT 116 Cell Line | EDJ-KQ36684 | Human | 83394 | Details Get a Quote |
| PITPNM3 Knockout HeLa Cell Line | EDJ-KQ36685 | Human | 83394 | Details Get a Quote |
| PITPNM3 Knockout A-549 Cell Line | EDJ-KQ65936 | Human | 83394 | Details Get a Quote |
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