• Gene id: 5306

Gene Summary

• Gene Symbol: PITPNA   Gene   UCSC   Ensembl
• Aliases: HEL-S-36, PI-TPalpha, PITPN, VIB1A
• Gene name: phosphatidylinositol transfer protein alpha
• Alternate names: phosphatidylinositol transfer protein alpha isoform, PI-TP-alpha, epididymis secretory protein Li 36, ptdIns transfer protein alpha, ptdInsTP alpha,
• Gene location: 17p13.3 (1562802: 1517717)     Exons: 12     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidyl
• OMIM: 600174

Protein Summary

• Protein general information: Q00169  
  • Name: Phosphatidylinositol transfer protein alpha isoform (PI TP alpha) (PtdIns transfer protein alpha) (PtdInsTP alpha)
  • Length: 270  
  • Mass: 31806
  • Tissue specificity: Expressed in a wide range of tissues.
• Sequence:

  MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLVNEPYEKDGEKGQYTHKIYHLQSKVPTFVRML
  APEGALNIHEKAWNAYPYCRTVITNEYMKEDFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAVYIDIADRSQVL
  SKDYKAEEDPAKFKSIKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVENFIHKQERRLFTNFH
  RQLFCWLDKWVDLTMDDIRRMEEETKRQLDEMRQKDPVKGMTADD

• Structural information:
  • Interpro: IPR001666  IPR023393  
  • PDB: 1UW5
  • PDBsum: 1UW5
  • STRING: ENSP00000316809
• Other Databases: GeneCards:  PITPNA  Malacards:  PITPNA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008525	phosphatidylcholine transporter activity	IBA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IBA	molecular function
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0005548	phospholipid transporter activity	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008525	phosphatidylcholine transporter activity	TAS	molecular function
GO:0008526	phosphatidylinositol transfer activity	TAS	molecular function
GO:0006629	lipid metabolic process	NAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0008525	phosphatidylcholine transporter activity	IDA	molecular function
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0008525	phosphatidylcholine transporter activity	IDA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:1901611	phosphatidylglycerol binding	TAS	molecular function
GO:0015914	phospholipid transport	IDA	biological process
GO:0015914	phospholipid transport	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq