PCYT1A (phosphate cytidylyltransferase 1A, choline)

2011-03-01  

Identity

HGNC
PCYT1A
LOCATION
3q29
LOCUSID
5130
ALIAS
CCTA,CCTalpha,CT,CTA,CTPCT,PCYT1,SMDCRD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5130
MIM: 123695
HGNC: 8754
Ensembl: ENSG00000161217

Variants:

dbSNP: 5130
ClinVar: 5130
TCGA: ENSG00000161217
COSMIC: PCYT1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161217ENST00000292823P49585
ENSG00000161217ENST00000411591C9J050
ENSG00000161217ENST00000412869C9JPY0
ENSG00000161217ENST00000419333C9JEJ2
ENSG00000161217ENST00000430755H7C1T3
ENSG00000161217ENST00000431016P49585
ENSG00000161217ENST00000433733H7BZN1
ENSG00000161217ENST00000438634F8WBU2
ENSG00000161217ENST00000441879C9J2E1
ENSG00000161217ENST00000443555C9JVS0
ENSG00000161217ENST00000444822F8WAZ5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450163lamivudineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
335219922021Methylome and transcriptome profiling revealed epigenetic silencing of LPCAT1 and PCYT1A associated with lipidome alterations in polycystic ovary syndrome.5
335219922021Methylome and transcriptome profiling revealed epigenetic silencing of LPCAT1 and PCYT1A associated with lipidome alterations in polycystic ovary syndrome.5
315175662020De novo phosphatidylcholine synthesis is required for autophagosome membrane formation and maintenance during autophagy.47
321869542020Differential dephosphorylation of CTP:phosphocholine cytidylyltransferase upon translocation to nuclear membranes and lipid droplets.7
327034352020PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma.3
315175662020De novo phosphatidylcholine synthesis is required for autophagosome membrane formation and maintenance during autophagy.47
321869542020Differential dephosphorylation of CTP:phosphocholine cytidylyltransferase upon translocation to nuclear membranes and lipid droplets.7
327034352020PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma.3
305592922019Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.6
314885472019Interdomain communication in the phosphatidylcholine regulatory enzyme, CCTα, relies on a modular αE helix.3
314885482019Remodeling of the interdomain allosteric linker upon membrane binding of CCTα pulls its active site close to the membrane surface.4
305592922019Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.6
314885472019Interdomain communication in the phosphatidylcholine regulatory enzyme, CCTα, relies on a modular αE helix.3
314885482019Remodeling of the interdomain allosteric linker upon membrane binding of CCTα pulls its active site close to the membrane surface.4
300557752018PEMT rs12325817 and PCYT1A rs7639752 polymorphisms are associated with betaine but not choline concentrations in pregnant women.2

Citation

Dessen P

PCYT1A (phosphate cytidylyltransferase 1A, choline)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52117/css/tumors-explorer/