• Gene id: 23760

Gene Summary

• Gene Symbol: PITPNB   Gene   UCSC   Ensembl
• Aliases: PI-TP-beta, PtdInsTP, VIB1B
• Gene name: phosphatidylinositol transfer protein beta
• Alternate names: phosphatidylinositol transfer protein beta isoform, PtdIns transfer protein beta, phosphotidylinositol transfer protein, beta,
• Gene location: 22q12.1 (27919305: 27851668)     Exons: 13     NC_000022.11
• Gene summary(Entrez): This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endopl
• OMIM: 606876

Protein Summary

• Protein general information: P48739  
  • Name: Phosphatidylinositol transfer protein beta isoform (PI TP beta) (PtdIns transfer protein beta) (PtdInsTP beta)
  • Length: 271  
  • Mass: 31540
  • Tissue specificity: Widely expressed in various tissues including brain.
• Sequence:

  MVLIKEFRVVLPCSVQEYQVGQLYSVAEASKNETGGGEGIEVLKNEPYEKDGEKGQYTHKIYHLKSKVPAFVRMI
  APEGSLVFHEKAWNAYPYCRTIVTNEYMKDDFFIKIETWHKPDLGTLENVHGLDPNTWKTVEIVHIDIADRSQVE
  PADYKADEDPALFQSVKTKRGPLGPNWKKELANSPDCPQMCAYKLVTIKFKWWGLQSKVENFIQKQEKRIFTNFH
  RQLFCWIDKWIDLTMEDIRRMEDETQKELETMRKRGSVRGTSAADV

• Structural information:
  • Interpro: IPR001666  IPR023393  
  • STRING: ENSP00000321266
• Other Databases: GeneCards:  PITPNB  Malacards:  PITPNB

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:0005794	Golgi apparatus	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	NAS	biological process
GO:0015914	phospholipid transport	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0008525	phosphatidylcholine transporter activity	IDA	molecular function
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0015914	phospholipid transport	IDA	biological process
GO:0006997	nucleus organization	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881