PITPNA
Phosphatidylinositol Transfer Protein Alpha
Gene Information Card
| Symbol | PITPNA |
|---|---|
| Full Name | Phosphatidylinositol Transfer Protein Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 5306 ncbi.nlm.nih.gov/gene/5306 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q00169 |
| OMIM ID | 600174 |
| HGNC ID | 9001 |
| Aliases | PITPN, PI-TP alpha, VIB1A |
Description
PITPNA encodes the alpha isoform of phosphatidylinositol transfer protein (PI-TP), which catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This protein is essential for phospholipid metabolism, vesicular trafficking, and signal transduction. It is ubiquitously expressed and plays a critical role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 40 (SCA40) | Missense mutations in PITPNA impair phosphatidylinositol transfer, leading to Purkinje cell degeneration and ataxia. | ClinVar, OMIM |
| Intellectual disability | Loss-of-function variants disrupt neuronal phospholipid signaling and synaptic vesicle cycling. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Cerebellum | 18.7 | High |
| Heart | 9.8 | Medium |
| Liver | 7.3 | Medium |
| Lung | 6.1 | Medium |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | Neuronal model |
| HEK293 (embryonic kidney) | 8.9 | Common expression system |
| HeLa (cervical carcinoma) | 7.6 | Epithelial |
| HepG2 (hepatocellular carcinoma) | 6.8 | Liver-derived |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83C>T (p.Thr28Ile) | Missense | Rare | Impaired PI transfer activity; associated with SCA40 |
| c.497G>A (p.Arg166His) | Missense | Rare | Reduced protein stability; linked to intellectual disability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr28Ile) reduce phosphatidylinositol transfer activity, leading to neuronal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for PITPNA.
Dominant Negative (DN)
Dominant-negative effects are not established; SCA40 mutations are likely haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphatidylinositol signaling system (KEGG: hsa04070)
• Glycerophospholipid metabolism (KEGG: hsa00564)
• Vesicular transport (Reactome: R-HSA-5653656)
Protein Summary
PITPNA is a 270-amino acid protein (35 kDa) that contains a phosphatidylinositol/phosphatidylcholine transfer domain. It shuttles phospholipids between membrane compartments, regulating phosphoinositide pools critical for cell signaling and membrane trafficking. The protein is highly expressed in brain, especially cerebellum, and mutations cause autosomal dominant spinocerebellar ataxia type 40.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITPNA Knockout HEK293 Cell Line | EDJ-KQ5468 | Human | 5306 | Details Get a Quote |
| PITPNA Knockout HCT 116 Cell Line | EDJ-KQ27424 | Human | 5306 | Details Get a Quote |
| PITPNA Knockout A-549 Cell Line | EDJ-KQ28671 | Human | 5306 | Details Get a Quote |
| PITPNA Knockout HeLa Cell Line | EDJ-KQ28673 | Human | 5306 | Details Get a Quote |
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