CTPS1 (CTP synthase 1)

2003-06-01  

Identity

HGNC
CTPS1
LOCATION
1p34.2
LOCUSID
1503
ALIAS
CTPS,GATD5,GATD5A,IMD24

Other Information

Locus ID:

NCBI: 1503
MIM: 123860
HGNC: 2519
Ensembl: ENSG00000171793

Variants:

dbSNP: 1503
ClinVar: 1503
TCGA: ENSG00000171793
COSMIC: CTPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171793ENST00000372616P17812
ENSG00000171793ENST00000463285A0A3B3ITF6
ENSG00000171793ENST00000463423A0A3B3ISY3
ENSG00000171793ENST00000470271A0A3B3ITH9
ENSG00000171793ENST00000648020A0A3B3ITB8
ENSG00000171793ENST00000648914A0A3B3IRQ8
ENSG00000171793ENST00000649124P17812
ENSG00000171793ENST00000649215B4E1E0
ENSG00000171793ENST00000649864A0A3B3IRI2
ENSG00000171793ENST00000650070P17812

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Pyrimidine metabolismKEGGko00240
Pyrimidine metabolismKEGGhsa00240
Metabolic pathwaysKEGGhsa01100
Pyrimidine ribonucleotide biosynthesis, UMP => UDP/UTP,CDP/CTPKEGGhsa_M00052
Pyrimidine ribonucleotide biosynthesis, UMP => UDP/UTP,CDP/CTPKEGGM00052
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphatesREACTOMER-HSA-499943

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
349916212022CTPS1 promotes malignant progression of triple-negative breast cancer with transcriptional activation by YBX1.15
359125422022CTPS1 inhibition suppresses proliferation and migration in colorectal cancer cells.3
349916212022CTPS1 promotes malignant progression of triple-negative breast cancer with transcriptional activation by YBX1.15
359125422022CTPS1 inhibition suppresses proliferation and migration in colorectal cancer cells.3
335764992021Energy deficiency caused by CTPS downregulation in decidua may contribute to pre-eclampsia by impairing decidualization.1
335764992021Energy deficiency caused by CTPS downregulation in decidua may contribute to pre-eclampsia by impairing decidualization.1
321611902020Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.16
321611902020Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation.16
284594472017Human CTP synthase filament structure reveals the active enzyme conformation.90
290971812017CTP synthase forms the cytoophidium in human hepatocellular carcinoma.21
284594472017Human CTP synthase filament structure reveals the active enzyme conformation.90
290971812017CTP synthase forms the cytoophidium in human hepatocellular carcinoma.21
244774772014Glutamine deprivation initiates reversible assembly of mammalian rods and rings.42
248702412014CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.88
244774772014Glutamine deprivation initiates reversible assembly of mammalian rods and rings.42

Citation

Dessen P

CTPS1 (CTP synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40199