PITPNA (phosphatidylinositol transfer protein alpha)

2007-04-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
HEL-S-36,PI-TPalpha,PITPN,VIB1A
FUSION GENES

Other Information

Locus ID:

NCBI: 5306
MIM: 600174
HGNC: 9001
Ensembl: ENSG00000174238

Variants:

dbSNP: 5306
ClinVar: 5306
TCGA: ENSG00000174238
COSMIC: PITPNA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174238ENST00000313486Q00169
ENSG00000174238ENST00000313486V9HWC5
ENSG00000174238ENST00000539476F5GWE5
ENSG00000174238ENST00000573056I3L4U7
ENSG00000174238ENST00000573231I3L3W1
ENSG00000174238ENST00000574991I3L4H1
ENSG00000174238ENST00000575288I3L471
ENSG00000174238ENST00000575895I3L4C0
ENSG00000174238ENST00000576010I3L2X8
ENSG00000174238ENST00000576722I3L459
ENSG00000174238ENST00000576761I3NI10

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Netrin-1 signalingREACTOMER-HSA-373752
Role of second messengers in netrin-1 signalingREACTOMER-HSA-418890

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
291041462018MLKL-PITPα signaling-mediated necroptosis contributes to cisplatin-triggered cell death in lung cancer A549 cells.10
153221052004Phosphorylation of a distinct structural form of phosphatidylinositol transfer protein alpha at Ser166 by protein kinase C disrupts receptor-mediated phospholipase C signaling by inhibiting delivery of phosphatidylinositol to membranes.8

Citation

Dessen P

PITPNA (phosphatidylinositol transfer protein alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46916/pitpna