CDIPT (CDP-diacylglycerol--inositol 3-phosphatidyltransferase)

2010-08-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
PIS,PIS1

Other Information

Locus ID:

NCBI: 10423
MIM: 605893
HGNC: 1769
Ensembl: ENSG00000103502

Variants:

dbSNP: 10423
ClinVar: 10423
TCGA: ENSG00000103502
COSMIC: CDIPT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103502ENST00000219789O14735
ENSG00000103502ENST00000219789A8K3L7
ENSG00000103502ENST00000561555B3KY94
ENSG00000103502ENST00000563415H3BUR9
ENSG00000103502ENST00000564296H3BTJ7
ENSG00000103502ENST00000566113O14735
ENSG00000103502ENST00000569956O14735
ENSG00000103502ENST00000569956A8K3L7
ENSG00000103502ENST00000570016O14735
ENSG00000103502ENST00000570016A8K3L7

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Glycerophospholipid metabolismKEGGko00564
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Glycerophospholipid metabolismKEGGhsa00564
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
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
204268642010Clinical significance of phosphatidyl inositol synthase overexpression in oral cancer.6
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
204268642010Clinical significance of phosphatidyl inositol synthase overexpression in oral cancer.6
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
163122032005Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.5
163122032005Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.5

Citation

Dessen P

CDIPT (CDP-diacylglycerol--inositol 3-phosphatidyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51613/cdipt-(cdp-diacylglycerol-inositol-3-phosphatidyltransferase)