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

2010-08-01  

Identity

HGNC
CDIPT
LOCATION
16p11.2
LOCUSID
10423
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
204268642010Clinical significance of phosphatidyl inositol synthase overexpression in oral cancer.5
163122032005Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.4

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