Version 5.4
Mus musculus Protein: Pitpna
Summary
InnateDB Protein IDBP-539196.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pitpna
Protein Name phosphatidylinositol transfer protein, alpha
Synonyms Pitpn; vb; vibrator;
Species Mus musculus
Ensembl Protein ENSMUSP00000115723
InnateDB Gene IDBG-200235 (Pitpna)
Protein Structure
UniProt Annotation
Function Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.
Subcellular Localization Cytoplasm.
Disease Associations Note=Defects in Pitpna are the cause of the vibrator phenotype which is characterized by early-onset progressive action tremor, degeneration of brain stem and spinal cord neurons, and juvenile death. The mutation is due to the insertion of an intracisternal A particle retrotransposon in intron 4 which results in a 5-fold reduction in protein levels. {ECO:0000269PubMed:9182797}.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005543 phospholipid binding
GO:0008289 lipid binding
Biological Process
GO:0006810 transport
Cellular Component
GO:0005622 intracellular
GO:0005829 cytosol
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID MGI:99887
InterPro IPR001666 Phosphatidylinositol transfer protein
PFAM PF02121
PRINTS PR00391
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P53810
PhosphoSite PhosphoSite-P53810
TrEMBL Q5ND42
UniProt Splice Variant
Entrez Gene 18738
UniGene Mm.475212
RefSeq NP_032876
MGI ID 1KCM
MGI Symbol Pitpna
OMIM
CCDS CCDS25052
HPRD
IMGT
EMBL AK144618 AK151496 AK152089 AK153569 AK165659 AK168187 AK168720 BC056171 S72681 U96725 U96726
GenPept AAC53266 AAC60690 AAC60756 AAH56171 BAE25972 BAE30448 BAE30939 BAE32103 BAE38321 BAE40147 BAE40562

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca