Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2618
Gene name	Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Gene symbol	GART
Synonyms (NCBI Gene)	AIRSGARSGARTFPAISPGFTPRGS
Chromosome	21
Chromosome location	21q22.11
Summary	The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis.

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044765	hsa-miR-320a	CLASH	23622248
MIRT043703	hsa-miR-342-3p	CLASH	23622248
MIRT042138	hsa-miR-484	CLASH	23622248
MIRT040950	hsa-miR-18a-3p	CLASH	23622248
MIRT039806	hsa-miR-615-3p	CLASH	23622248
MIRT039806	hsa-miR-615-3p	CLASH	23622248
MIRT039189	hsa-miR-769-5p	CLASH	23622248
MIRT037430	hsa-miR-744-5p	CLASH	23622248
MIRT1012184	hsa-miR-103b	CLIP-seq
MIRT1012185	hsa-miR-1225-3p	CLIP-seq
MIRT1012186	hsa-miR-1233	CLIP-seq
MIRT1012187	hsa-miR-186	CLIP-seq
MIRT1012188	hsa-miR-188-3p	CLIP-seq
MIRT1012189	hsa-miR-1972	CLIP-seq
MIRT1012190	hsa-miR-200b	CLIP-seq
MIRT1012191	hsa-miR-200c	CLIP-seq
MIRT1012192	hsa-miR-203	CLIP-seq
MIRT1012193	hsa-miR-296-3p	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT1012195	hsa-miR-3167	CLIP-seq
MIRT1012196	hsa-miR-330-3p	CLIP-seq
MIRT1012197	hsa-miR-338-3p	CLIP-seq
MIRT1012198	hsa-miR-34c-3p	CLIP-seq
MIRT1012199	hsa-miR-3613-3p	CLIP-seq
MIRT1012200	hsa-miR-3614-5p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012203	hsa-miR-376c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT1012206	hsa-miR-3942-3p	CLIP-seq
MIRT1012207	hsa-miR-3944-5p	CLIP-seq
MIRT1012208	hsa-miR-429	CLIP-seq
MIRT1012209	hsa-miR-4310	CLIP-seq
MIRT1012210	hsa-miR-4459	CLIP-seq
MIRT1012211	hsa-miR-4480	CLIP-seq
MIRT1012212	hsa-miR-4650-5p	CLIP-seq
MIRT1012213	hsa-miR-4722-5p	CLIP-seq
MIRT1012214	hsa-miR-4724-5p	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT1012216	hsa-miR-483-3p	CLIP-seq
MIRT1012217	hsa-miR-519a	CLIP-seq
MIRT1012218	hsa-miR-519b-3p	CLIP-seq
MIRT1012219	hsa-miR-519c-3p	CLIP-seq
MIRT1012220	hsa-miR-532-3p	CLIP-seq
MIRT1012221	hsa-miR-569	CLIP-seq
MIRT1012222	hsa-miR-876-5p	CLIP-seq
MIRT1999884	hsa-miR-137	CLIP-seq
MIRT1012187	hsa-miR-186	CLIP-seq
MIRT1012188	hsa-miR-188-3p	CLIP-seq
MIRT1012190	hsa-miR-200b	CLIP-seq
MIRT1012191	hsa-miR-200c	CLIP-seq
MIRT1012192	hsa-miR-203	CLIP-seq
MIRT1012193	hsa-miR-296-3p	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT1999885	hsa-miR-3163	CLIP-seq
MIRT1012196	hsa-miR-330-3p	CLIP-seq
MIRT1012198	hsa-miR-34c-3p	CLIP-seq
MIRT1012199	hsa-miR-3613-3p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT1999886	hsa-miR-421	CLIP-seq
MIRT1012208	hsa-miR-429	CLIP-seq
MIRT1999887	hsa-miR-4709-5p	CLIP-seq
MIRT1012214	hsa-miR-4724-5p	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT1012216	hsa-miR-483-3p	CLIP-seq
MIRT1999888	hsa-miR-496	CLIP-seq
MIRT1999889	hsa-miR-505	CLIP-seq
MIRT1012220	hsa-miR-532-3p	CLIP-seq
MIRT1999890	hsa-miR-550a	CLIP-seq
MIRT1012221	hsa-miR-569	CLIP-seq
MIRT1999891	hsa-miR-587	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT1012196	hsa-miR-330-3p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT1012207	hsa-miR-3944-5p	CLIP-seq
MIRT1012210	hsa-miR-4459	CLIP-seq
MIRT1012213	hsa-miR-4722-5p	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT1012217	hsa-miR-519a	CLIP-seq
MIRT1012218	hsa-miR-519b-3p	CLIP-seq
MIRT1012219	hsa-miR-519c-3p	CLIP-seq
MIRT1999891	hsa-miR-587	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT1012197	hsa-miR-338-3p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT1012209	hsa-miR-4310	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT2537099	hsa-miR-101	CLIP-seq
MIRT2537100	hsa-miR-144	CLIP-seq
MIRT2537101	hsa-miR-1827	CLIP-seq
MIRT2537102	hsa-miR-1914	CLIP-seq
MIRT2537103	hsa-miR-2114	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT1012196	hsa-miR-330-3p	CLIP-seq
MIRT1012197	hsa-miR-338-3p	CLIP-seq
MIRT1012199	hsa-miR-3613-3p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT2537104	hsa-miR-3929	CLIP-seq
MIRT2537105	hsa-miR-3934	CLIP-seq
MIRT1012209	hsa-miR-4310	CLIP-seq
MIRT2537106	hsa-miR-4419b	CLIP-seq
MIRT2537107	hsa-miR-4478	CLIP-seq
MIRT2537108	hsa-miR-4649-3p	CLIP-seq
MIRT2537109	hsa-miR-4662a-5p	CLIP-seq
MIRT2537110	hsa-miR-4676-5p	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT2537111	hsa-miR-4762-5p	CLIP-seq
MIRT2537112	hsa-miR-485-5p	CLIP-seq
MIRT2537113	hsa-miR-520d-5p	CLIP-seq
MIRT2537114	hsa-miR-524-5p	CLIP-seq
MIRT1999890	hsa-miR-550a	CLIP-seq
MIRT2537115	hsa-miR-575	CLIP-seq
MIRT2537116	hsa-miR-582-5p	CLIP-seq
MIRT2537099	hsa-miR-101	CLIP-seq
MIRT2537100	hsa-miR-144	CLIP-seq
MIRT2537101	hsa-miR-1827	CLIP-seq
MIRT2537102	hsa-miR-1914	CLIP-seq
MIRT2537103	hsa-miR-2114	CLIP-seq
MIRT1012194	hsa-miR-3122	CLIP-seq
MIRT2681463	hsa-miR-3161	CLIP-seq
MIRT1012197	hsa-miR-338-3p	CLIP-seq
MIRT1012199	hsa-miR-3613-3p	CLIP-seq
MIRT1012201	hsa-miR-3689a-3p	CLIP-seq
MIRT1012202	hsa-miR-3689c	CLIP-seq
MIRT1012204	hsa-miR-3913-5p	CLIP-seq
MIRT1012205	hsa-miR-3926	CLIP-seq
MIRT2537104	hsa-miR-3929	CLIP-seq
MIRT2537105	hsa-miR-3934	CLIP-seq
MIRT2681464	hsa-miR-4277	CLIP-seq
MIRT1012209	hsa-miR-4310	CLIP-seq
MIRT2537106	hsa-miR-4419b	CLIP-seq
MIRT2537107	hsa-miR-4478	CLIP-seq
MIRT2537108	hsa-miR-4649-3p	CLIP-seq
MIRT2537109	hsa-miR-4662a-5p	CLIP-seq
MIRT2537110	hsa-miR-4676-5p	CLIP-seq
MIRT1012215	hsa-miR-4728-5p	CLIP-seq
MIRT2537111	hsa-miR-4762-5p	CLIP-seq
MIRT2537112	hsa-miR-485-5p	CLIP-seq
MIRT2537113	hsa-miR-520d-5p	CLIP-seq
MIRT2537114	hsa-miR-524-5p	CLIP-seq
MIRT1999890	hsa-miR-550a	CLIP-seq
MIRT2537115	hsa-miR-575	CLIP-seq
MIRT2537116	hsa-miR-582-5p	CLIP-seq
MIRT2681465	hsa-miR-630	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003360	Process	Brainstem development	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004637	Function	Phosphoribosylamine-glycine ligase activity	IBA
GO:0004637	Function	Phosphoribosylamine-glycine ligase activity	IEA
GO:0004637	Function	Phosphoribosylamine-glycine ligase activity	TAS
GO:0004641	Function	Phosphoribosylformylglycinamidine cyclo-ligase activity	IBA
GO:0004641	Function	Phosphoribosylformylglycinamidine cyclo-ligase activity	IDA	2183217
GO:0004641	Function	Phosphoribosylformylglycinamidine cyclo-ligase activity	IEA
GO:0004641	Function	Phosphoribosylformylglycinamidine cyclo-ligase activity	TAS
GO:0004644	Function	Phosphoribosylglycinamide formyltransferase activity	IDA	2183217
GO:0004644	Function	Phosphoribosylglycinamide formyltransferase activity	IEA
GO:0004644	Function	Phosphoribosylglycinamide formyltransferase activity	TAS	2050105
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	2183217
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IBA
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IDA	2183217
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006189	Process	'de novo' IMP biosynthetic process	IDA	2183217
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0009113	Process	Purine nucleobase biosynthetic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0016879	Function	Ligase activity, forming carbon-nitrogen bonds	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0044208	Process	'de novo' AMP biosynthetic process	IDA	2183217
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0046084	Process	Adenine biosynthetic process	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0097294	Process	'de novo' XMP biosynthetic process	IDA	2183217
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA

MIM	HGNC	e!Ensembl
138440	4163	ENSG00000159131

P22102

Protein name

Trifunctional purine biosynthetic protein adenosine-3 [Includes: Phosphoribosylamine--glycine ligase (EC 6.3.4.13) (Glycinamide ribonucleotide synthetase) (GARS) (Phosphoribosylglycinamide synthetase); Phosphoribosylformylglycinamidine cyclo-ligase (EC 6.

Protein function

Trifunctional enzyme that catalyzes three distinct reactions as part of the 'de novo' inosine monophosphate biosynthetic pathway. {ECO:0000305|PubMed:12450384, ECO:0000305|PubMed:12755606, ECO:0000305|PubMed:20631005, ECO:0000305|PubMed:2183217}

PDB

1MEJ , 1MEN , 1MEO , 1NJS , 1RBM , 1RBQ , 1RBY , 1RBZ , 1RC0 , 1RC1 , 1ZLX , 1ZLY , 2QK4 , 2V9Y , 4EW1 , 4EW2 , 4EW3 , 4ZYT , 4ZYU , 4ZYV , 4ZYW , 4ZYX , 4ZYY , 4ZYZ , 4ZZ0 , 4ZZ1 , 4ZZ2 , 4ZZ3 , 5J9F , 7JG0 , 7JG3 , 7JG4 , 8FDX , 8FDY , 8FE0 , 8FJV , 8FJW , 8FJX , 8FJY , 9NX6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02844	GARS_N	3 → 104	Phosphoribosylglycinamide synthetase, N domain	Domain
PF01071	GARS_A	105 → 298	Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain	Domain
PF02843	GARS_C	334 → 424	Phosphoribosylglycinamide synthetase, C domain	Domain
PF00586	AIRS	474 → 593	AIR synthase related protein, N-terminal domain	Domain
PF02769	AIRS_C	606 → 777	AIR synthase related protein, C-terminal domain	Domain
PF00551	Formyl_trans_N	808 → 988	Formyl transferase	Domain

Sequence

MAARVLIIGSGGREHTLAWKLAQSHHVKQVLVAPGNAGTACSEKISNTAISISDHTALAQ
FCKEKKIEFVVVGPEAPLAAGIVGNLRSAGVQCFGPTAEAAQLESSKRFAKEFMDRHGIP
TAQWKAFTKPEEACSFILSADFPALVVKASGLAAGKGVIVAKSKEEACKAVQEIMQEKAF
GAAGETIVIEELLDGEEVSCLCFTDGKTVAPMPPAQDHKRLLEGDGGPNTGGMGAYCPAP
QVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAGIMLTKNGPKVLEFNCRFGDPECQV
ILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTALTVVMASKGYPGDYTKGVEITGFPEA
QALGLEVFHAGTALKNGKVVTHGGRVLAVTAIRENLISALEEAKKGLAAIKFEGAIYRKD
VGFRAIAFLQQPRSLTYKESGVDIAAGNMLVKKIQPLAKATSRSGCKVDLGGFAGLFDLK
AAGFKDPLLASGTDGVGTKLKIAQLCNKHDTIGQDLVAMCVNDILAQGAEPLFFLDYFSC
GKLDLSVTEAVVAGIAKACGKAGCALLGGETAEMPDMYPPGEYDLAGFAVGAMERDQKLP
HLERITEGDVVVGIASSGLHSNGFSLVRKIVAKSSLQYSSPAPDGCGDQTLGDLLLTPTR
IYSHSLLPVLRSGHVKAFAHITGGGLLENIPRVLPEKLGVDLDAQTWRIPRVFSWLQQEG
HLSEEEMARTFNCGVGAVLVVSKEQTEQILRDIQQHKEEAWVIGSVVARAEGSPRVKVKN
LIESMQINGSVLKNGSLTNHFSFEKKKARVAVLISGTGSNLQALIDSTREPNSSAQIDIV
ISNKAAVAGLDKAERAGIPTRVINHKLYKNRVEFDSAIDLVLEEFSIDIVCLAGFMRILS
GPFVQKWNGKMLNIHPSLLPSFKGSNAHEQALETGVTVTGCTVHFVAEDVDAGQIILQEA
VPVKRGDTVATLSERVKLAEHKIFPAALQLVASGTVQLGENGKICWVKEE

Sequence length

1010

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism One carbon pool by folate Metabolic pathways Antifolate resistance		Purine ribonucleoside monophosphate biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs2084898135	RCV001172290	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	34818353	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Associate	32066674	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	37143728	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Associate	37143728	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	25318605	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cell Transformation Neoplastic	Stimulate	37439412	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	20020129, 29843204, 37439412	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	35659055	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	22931243, 28019128, 33933170	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	30927276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	21044360	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Associate	25318605	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	29843204, 37143728, 37439412	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Associate	30927276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	35000541	★★★★★ ★☆☆☆☆ Found in Text Mining only

GART (phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase)