PCYT1B (phosphate cytidylyltransferase 1B, choline)

2014-11-01  

Identity

HGNC
PCYT1B
LOCATION
Xp22.11
LOCUSID
9468
ALIAS
CCTB,CTB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9468
MIM: 300948
HGNC: 8755
Ensembl: ENSG00000102230

Variants:

dbSNP: 9468
ClinVar: 9468
TCGA: ENSG00000102230
COSMIC: PCYT1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102230ENST00000356768Q9Y5K3
ENSG00000102230ENST00000379144Q9Y5K3
ENSG00000102230ENST00000379145Q9Y5K3
ENSG00000102230ENST00000496020F2Z2B1

Expression (GTEx)

0
5
10
15
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
Phosphonate and phosphinate metabolismKEGGko00440
Glycerophospholipid metabolismKEGGko00564
Phosphonate and phosphinate metabolismKEGGhsa00440
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGhsa_M00090
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGM00090
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
261657972015CTP:phosphocholine cytidylyltransferase: Function, regulation, and structure of an amphitropic enzyme required for membrane biogenesis.33
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
195956832009Mass spectrometric identification of human phosphate cytidylyltransferase 1 as a novel calcium oxalate crystal growth inhibitor purified from human renal stone matrix.4
254524702015Neurokinin 3 receptor and phosphocholine transferase: missing factors for pathogenesis of C-reactive protein in preeclampsia.4

Citation

Dessen P

PCYT1B (phosphate cytidylyltransferase 1B, choline)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71779/pcyt1b