PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)

2007-04-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
DRES9,NIR2,PITPNM,RDGB,RDGB1,RDGBA,RDGBA1,Rd9
FUSION GENES

Other Information

Locus ID:

NCBI: 9600
MIM: 608794
HGNC: 9003
Ensembl: ENSG00000110697

Variants:

dbSNP: 9600
ClinVar: 9600
TCGA: ENSG00000110697
COSMIC: PITPNM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110697ENST00000356404O00562
ENSG00000110697ENST00000356404A0A024R5I7
ENSG00000110697ENST00000436757O00562
ENSG00000110697ENST00000524901E9PNU6
ENSG00000110697ENST00000528559E9PMZ6
ENSG00000110697ENST00000532703E9PMS0
ENSG00000110697ENST00000533391E9PSD1
ENSG00000110697ENST00000534749O00562
ENSG00000110697ENST00000534749A0A024R5I7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PIREACTOMER-HSA-1483226

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
241836672013Feedback regulation of receptor-induced Ca2+ signaling mediated by E-Syt1 and Nir2 at endoplasmic reticulum-plasma membrane junctions.92
157230572005Maintenance of the diacylglycerol level in the Golgi apparatus by the Nir2 protein is critical for Golgi secretory function.72
258873992015Phosphatidylinositol 4,5-Bisphosphate Homeostasis Regulated by Nir2 and Nir3 Proteins at Endoplasmic Reticulum-Plasma Membrane Junctions.33
238970882013The phosphatidylinositol-transfer protein Nir2 binds phosphatidic acid and positively regulates phosphoinositide signalling.31
151258352004Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion.30
170905282007Substrate specificity of RdgB protein, a deoxyribonucleoside triphosphate pyrophosphohydrolase.25
120773362002Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.17
122256672002Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain.12
251796022014The lipid-transfer protein Nir2 enhances epithelial-mesenchymal transition and facilitates breast cancer metastasis.5

Citation

Dessen P

PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46996/pitpnm1