GART (phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase)

2014-08-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
AIRS,GARS,GARTF,PAIS,PGFT,PRGS
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
191611602009An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).30
199369462010Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.23
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
193363702009Determination of genetic predisposition to patent ductus arteriosus in preterm infants.17
124503842002Crystal structures of human GAR Tfase at low and high pH and with substrate beta-GAR.12
164670962006A phase II trial of pemetrexed in advanced breast cancer: clinical response and association with molecular target expression.12
253186052015Genetic variations in the one-carbon metabolism pathway genes and susceptibility to hepatocellular carcinoma risk: a case-control study.11
160261562005The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase.10
206310052010Structural studies of tri-functional human GART.8

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/gart