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FLASH GENE

Symbol

GART

contributors: mct - updated : 16-10-2024

HGNC name	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
HGNC id	4163

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.1      Physical location : 34.876.238 - 34.915.198
Synonym symbol(s)	PFGS, PGFT, PRGS, AIRS, TFPS, GARS, PAIS, GARTF
EC.number	2.1.2.2, 6.3.3.1, 6.3.4.13

DNA

TYPE	functioning gene
STRUCTURE	38.96 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	alternatively spliced isoform of TFPS, trifunctional (110 kDa) and monofunctional (50kDa) (Brodsky)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_175085 11 splicing 2152 NP_780294 45 433 - 2016 27718035 11 exons missing the 3' end exons compared to transcript variant 1 NM_000819 22 splicing 3318 NP_000810 107 1010 - 2016 27718035 22 exons NM_001136006 21 - 3515 NP_001129478 - 1010 - 2016 27718035 NM_001136005 22 - 3552 NP_001129477 - 1010 - 2016 27718035

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       highly Digestive liver       moderately   mouth       moderately   salivary gland       moderately Endocrine neuroendocrine pituitary     moderately Lymphoid/Immune spleen       highly Nervous brain hindbrain cerebellum       brain         Reproductive female system uterus cervix   highly   male system testis     predominantly Respiratory respiratory tract trachea     highly Urinary bladder       moderately Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective bone     moderately

cell lineage
cell lines
fluid/secretion	highly in lymph

at STAGE

physiological period

fetal

Text	cerebellum

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a ATP-grasp domain

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to rattus Gart (86.5 pc)
	homolog to murine Gart (85.5 pc)

Homologene

FAMILY	GARS family
	AIR synthase family
	GART family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	catalyzing the third step of the de novo purine biosynthesis (see TFPS) leading to formylglycinamide ribonucleotide (FGAR)
	phosphoribosyl glycineamide synthetase
	pivotal enzyme in de novo purine synthesis, that mediates cellular apoptosis in many diseases
	GART plays a critical role in the protection of cellular apoptosis and migration of intestinal epithelial cells to maintain the integrity of the epithelial barrier

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

a component

component of the trifunctional enzyme

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

GART enhances the stability of RUVBL1 through methylating its K7 site, which consequently aberrantly activates the Wnt/CTNNB1 signaling pathway to induce tumor stemness

cell & other

REGULATION

induced by

VGLL3 inducing GART expression and thereby confers de novo nucleotide-dependent cell proliferation in cancer cell

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         only in individuals with Down syndrome tumoral     --over   is associated with poor outcomes in colorectal cancer (CRC) patients and promotes the proliferation and migration of CRC cells tumoral     --over   in hepatocellular carcinoma (HCC)

Susceptibility

to Autism spectrum disorders (ASD)

Variant & Polymorphism other	blocking GART results in nearly the same effect in the metabolic network as folate depletion, and methylation defect to be a potential cause of ASD, due to the depletion of purine, and consequently S-adenosyl methionine (SAM), biosynthesis

Candidate gene	for a chemotherapeutic target for several decades
Marker	GART expression may be one of the causative factors for a poor prognosis in HCC
Therapy target

ANIMAL & CELL MODELS