GART (phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase)

2014-08-01  

Identity

HGNC
GART
LOCATION
21q22.11
LOCUSID
2618
ALIAS
AIRS,GARS,GARTF,PAIS,PGFT,PRGS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2618
MIM: 138440
HGNC: 4163
Ensembl: ENSG00000159131

Variants:

dbSNP: 2618
ClinVar: 2618
TCGA: ENSG00000159131
COSMIC: GART

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159131ENST00000361093P22102
ENSG00000159131ENST00000366093H7C366
ENSG00000159131ENST00000381815P22102
ENSG00000159131ENST00000381831P22102
ENSG00000159131ENST00000381839P22102
ENSG00000159131ENST00000424203F8WD69
ENSG00000159131ENST00000426819C9JBJ1
ENSG00000159131ENST00000430874C9JTV6
ENSG00000159131ENST00000438059C9JKQ7
ENSG00000159131ENST00000441403C9JZG2

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
Purine metabolismKEGGko00230
One carbon pool by folateKEGGko00670
Purine metabolismKEGGhsa00230
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGhsa_M00048
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGM00048
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

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
374394122023GART Functions as a Novel Methyltransferase in the RUVBL1/β-Catenin Signaling Pathway to Promote Tumor Stemness in Colorectal Cancer.4
374394122023GART Functions as a Novel Methyltransferase in the RUVBL1/β-Catenin Signaling Pathway to Promote Tumor Stemness in Colorectal Cancer.4
354348222022VGLL3 increases the dependency of cancer cells on de novo nucleotide synthesis through GART expression.5
354348222022VGLL3 increases the dependency of cancer cells on de novo nucleotide synthesis through GART expression.5
339331702021The transcriptome profile of human trisomy 21 blood cells.11
339331702021The transcriptome profile of human trisomy 21 blood cells.11
276599402017Association of genetic polymorphisms of de novo nucleotide biosynthesis with increased CHD susceptibility in the northern Chinese population.4
276599402017Association of genetic polymorphisms of de novo nucleotide biosynthesis with increased CHD susceptibility in the northern Chinese population.4
277180352016GART mediates the renewal of intestinal epithelial barrier via p38/p53/PUMA cascade in colitis.3
277180352016GART mediates the renewal of intestinal epithelial barrier via p38/p53/PUMA cascade in colitis.3
253186052015Genetic variations in the one-carbon metabolism pathway genes and susceptibility to hepatocellular carcinoma risk: a case-control study.13
253186052015Genetic variations in the one-carbon metabolism pathway genes and susceptibility to hepatocellular carcinoma risk: a case-control study.13
244447102014Glycinamide ribonucleotide formyl transferase is frequently overexpressed in glioma and critically regulates the proliferation of glioma cells.4
248306182014Increased expression of glycinamide ribonucleotide transformylase is associated with a poor prognosis in hepatocellular carcinoma, and it promotes liver cancer cell proliferation.11
244447102014Glycinamide ribonucleotide formyl transferase is frequently overexpressed in glioma and critically regulates the proliferation of glioma cells.4

Citation

Dessen P

GART (phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54324/js/humanGenome