• Gene id: 2618

Gene Summary

• Gene Symbol: GART   Gene   UCSC   Ensembl
• Aliases: AIRS, GARS, GARTF, PAIS, PGFT, PRGS
• Gene name: phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
• Alternate names: trifunctional purine biosynthetic protein adenosine-3, GAR transformylase, GARS-AIRS-GART, glycinamide ribonucleotide formyltransferase, glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase,
• Gene location: 21q22.11 (33542891: 33503930)     Exons: 23     NC_000021.9
• Gene summary(Entrez): 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.
• OMIM: 138440

SNPs

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: P22102  
  • 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.
  • Length: 1010  
  • Mass: 107767
• Sequence:

  MAARVLIIGSGGREHTLAWKLAQSHHVKQVLVAPGNAGTACSEKISNTAISISDHTALAQFCKEKKIEFVVVGPE
  APLAAGIVGNLRSAGVQCFGPTAEAAQLESSKRFAKEFMDRHGIPTAQWKAFTKPEEACSFILSADFPALVVKAS
  GLAAGKGVIVAKSKEEACKAVQEIMQEKAFGAAGETIVIEELLDGEEVSCLCFTDGKTVAPMPPAQDHKRLLEGD
  GGPNTGGMGAYCPAPQVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAGIMLTKNGPKVLEFNCRFGDPECQV
  ILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTALTVVMASKGYPGDYTKGVEITGFPEAQALGLEVFHAGTALK
  NGKVVTHGGRVLAVTAIRENLISALEEAKKGLAAIKFEGAIYRKDVGFRAIAFLQQPRSLTYKESGVDIAAGNML
  VKKIQPLAKATSRSGCKVDLGGFAGLFDLKAAGFKDPLLASGTDGVGTKLKIAQLCNKHDTIGQDLVAMCVNDIL
  AQGAEPLFFLDYFSCGKLDLSVTEAVVAGIAKACGKAGCALLGGETAEMPDMYPPGEYDLAGFAVGAMERDQKLP
  HLERITEGDVVVGIASSGLHSNGFSLVRKIVAKSSLQYSSPAPDGCGDQTLGDLLLTPTRIYSHSLLPVLRSGHV
  KAFAHITGGGLLENIPRVLPEKLGVDLDAQTWRIPRVFSWLQQEGHLSEEEMARTFNCGVGAVLVVSKEQTEQIL
  RDIQQHKEEAWVIGSVVARAEGSPRVKVKNLIESMQINGSVLKNGSLTNHFSFEKKKARVAVLISGTGSNLQALI
  DSTREPNSSAQIDIVISNKAAVAGLDKAERAGIPTRVINHKLYKNRVEFDSAIDLVLEEFSIDIVCLAGFMRILS
  GPFVQKWNGKMLNIHPSLLPSFKGSNAHEQALETGVTVTGCTVHFVAEDVDAGQIILQEAVPVKRGDTVATLSER
  VKLAEHKIFPAALQLVASGTVQLGENGKICWVKEE

• Structural information:
  • Protein Domains: (111..31-)
    (/note="ATP-grasp"-)
  • Interpro: IPR011761  IPR013815  IPR002376  IPR036477  IPR004607   IPR001555  IPR016185  IPR020561  IPR000115  IPR020560  IPR037123  IPR020559  IPR020562  IPR010918  IPR036676  IPR016188  IPR036921  IPR004733  IPR011054  
  • Prosite: PS50975 PS00184 PS00373
  • CDD: cd08645 cd02196
  • 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
  • PDBsum: 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
  • STRING: ENSP00000371253
• Other Databases: GeneCards:  GART  Malacards:  GART

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004637	phosphoribosylamine-glycine ligase activity	IBA	molecular function
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	IBA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IBA	biological process
GO:0046084	adenine biosynthetic process	IBA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016742	hydroxymethyl-, formyl- and related transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004637	phosphoribosylamine-glycine ligase activity	IEA	molecular function
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	IEA	molecular function
GO:0004644	phosphoribosylglycinamide formyltransferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0009113	purine nucleobase biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0004644	phosphoribosylglycinamide formyltransferase activity	TAS	molecular function
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	IEA	molecular function
GO:0004644	phosphoribosylglycinamide formyltransferase activity	IEA	molecular function
GO:0004637	phosphoribosylamine-glycine ligase activity	IEA	molecular function
GO:0004637	phosphoribosylamine-glycine ligase activity	TAS	molecular function
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	TAS	molecular function
GO:0004644	phosphoribosylglycinamide formyltransferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0046654	tetrahydrofolate biosynthetic process	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0006544	glycine metabolic process	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0004644	phosphoribosylglycinamide formyltransferase activity	IEA	molecular function
GO:0004641	phosphoribosylformylglycinamidine cyclo-ligase activity	IEA	molecular function
GO:0004637	phosphoribosylamine-glycine ligase activity	IEA	molecular function
GO:0003360	brainstem development	IEA	biological process
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa01523	Antifolate resistance
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Down syndrome	PMID:9328467
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)