Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2618
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GART
Synonyms (NCBI Gene) Gene synonyms aliases
AIRS, GARS, GARTF, PAIS, PGFT, PRGS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PAIS
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003360 Process Brainstem development IEA
GO:0004637 Function Phosphoribosylamine-glycine ligase activity IBA 21873635
GO:0004637 Function Phosphoribosylamine-glycine ligase activity TAS
GO:0004641 Function Phosphoribosylformylglycinamidine cyclo-ligase activity IBA 21873635
GO:0004641 Function Phosphoribosylformylglycinamidine cyclo-ligase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138440 4163 ENSG00000159131
Protein
UniProt ID 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
FCKEKKIEFVVVGPEAPLAAGIVGNLRSAGVQCFGPTAEAAQLE
SSKRFAKEFMDRHGIP
TAQWKAFTKPEEACSFILSADFPALVVKASGLAAGKGVIVAKSKEEACKAVQEIMQEKAF
GAAGETIVIEELLDGEEVSCLCFTDGKTVAPMPPAQDHKRLLEGDGGPNTGGMGAYCPAP
QVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAGIMLTKNGPKVLEFNCRFGDPEC
QV
ILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTALTVVMASKGYPGDYTKGVEITGFPEA
QALGLEVFHAGTALKNGKVVTHGGRVLAVTAIRENLISALEEAKKGLAAIKFEGAIYRKD
VGFR
AIAFLQQPRSLTYKESGVDIAAGNMLVKKIQPLAKATSRSGCKVDLGGFAGLFDLK
AAGFKDPLLASGTDGVGTKLKIAQLCNKHDTIGQDLVAMCVNDILAQGAEPLFFLDYFSC
GKLDLSVTEAVVAGIAKACGKAGCALLGGETAEMPDMYPPGEYDLAGFAVGAM
ERDQKLP
HLERITEGDVVVGIASSGLHSNGFSLVRKIVAKSSLQYSSPAPDGCGDQTLGDLLLTPTR
IYSHSLLPVLRSGHVKAFAHITGGGLLENIPRVLPEKLGVDLDAQTWRIPRVFSWLQQEG
HLSEEEMARTFNCGVGAVLVVSKEQTEQILRDIQQHKEEAWVIGSVVARAEGSPRVK
VKN
LIESMQINGSVLKNGSLTNHFSFEKKKARVAVLISGTGSNLQALIDSTREPNSSAQIDIV
ISNKAAVAGLDKAERAGIPTRVINHKLYKNRVEFDSAIDLVLEEFSIDIVCLAGFMRILS
GPFVQKWNGKMLNIHPSLLPSFKGSNAHEQALETGVTVTGCTVHFVAEDVDAGQIILQEA
VPVKRGDTVATLSERVKLAEHKIFPAAL
QLVASGTVQLGENGKICWVKEE
Sequence length 1010
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
One carbon pool by folate
Metabolic pathways
Antifolate resistance
  Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Charcot-marie-tooth disease Autosomal dominant Charcot-Marie-Tooth disease type 2D rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
Distal hereditary motor neuronopathy Distal hereditary motor neuropathy type 5 rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090
View all (57 more)
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
27602772
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 25854761
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 34818353
Attention Deficit Disorder with Hyperactivity Associate 32066674
Breast Neoplasms Associate 37143728
Carcinoma Ductal Associate 37143728
Carcinoma Hepatocellular Associate 25318605
Cell Transformation Neoplastic Stimulate 37439412
Colorectal Neoplasms Associate 20020129, 29843204, 37439412
COVID 19 Associate 35659055
Down Syndrome Associate 22931243, 28019128, 33933170
Drug Related Side Effects and Adverse Reactions Associate 30927276