GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Gene

Also Known as AIRS; GARS; PAIS; PGFT; PRGS; GARTF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2618

About GART

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,503,931-33,542,893 (from NCBI)

This gene has 18 transcripts (splice variants), 1 gene allele and 238 orthologues. Ubiquitous expression in testis (RPKM 13.5), lymph node (RPKM 11.6) and 25 other tissues.

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. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GART Products (4)

mRNA Protein Name
NM_000819.5 NP_000810.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_001136005.1 NP_001129477.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_001136006.1 NP_001129478.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
NM_175085.3 NP_780294.1 trifunctional purine biosynthetic protein adenosine-3 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphoribosylformylglycinamidine cyclo-ligase activity IDA
IDA: Inferred from direct assay
2183217 GOA
enables phosphoribosylglycinamide formyltransferase activity IDA
IDA: Inferred from direct assay
2183217 GOA
Biological Process GO Annotation Evidence References Source
involved in 'de novo' AMP biosynthetic process IDA
IDA: Inferred from direct assay
2183217 GOA
involved in 'de novo' IMP biosynthetic process IDA
IDA: Inferred from direct assay
2183217 GOA
involved in 'de novo' XMP biosynthetic process IDA
IDA: Inferred from direct assay
2183217 GOA
involved in GMP biosynthetic process IDA
IDA: Inferred from direct assay
2183217 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytosol IDA
IDA: Inferred from direct assay
2183217 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GART Protein Structure

GARS_N

GARS_N: Phosphoribosylglycinamide synthetase, N domain (4 - 104)

GARS_A

GARS_A: Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (105 - 298)

GARS_C

GARS_C: Phosphoribosylglycinamide synthetase, C domain (334 - 425)

AIRS

AIRS: AIR synthase related protein, N-terminal domain (471 - 571)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (607 - 776)

Formyl_trans_N

Formyl_trans_N: Formyl transferase (809 - 988)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1010 a.a.
Protein Preferred Names Protein Names

trifunctional purine biosynthetic protein adenosine-3

  • GAR transformylase

Related Diseases

Diseases Alias
Tracheoesophageal Fistula With Or Without Esophageal Atresia

  • Esophageal Atresia With Or Without Tracheoesophageal Fistula

  • Esophageal Atresia
Esophageal Atresia

  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia
Nondisjunction

  • Mosaicism, Chromosomal

  • Mixoploidy, Familial
Down Syndrome

  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21
Cystoisosporiasis

  • Isosporiasis

  • Infection By Isospora Belli And Isospora Hominis

  • Isosporosis

  • Infection By Isospora Belli Or Isospora Hominis

  • Isospora Belli Or Hominis Infection

  • Coccidial Infestation

  • Coccidiosis

  • Coccidial Dysentery

  • Intestinal Coccidiosis Nos
Lung Non-Squamous Non-Small Cell Carcinoma

  • Non- Squamous Nsclc
Neuroaspergillosis
Pleural Cancer

  • Pleural Neoplasms

  • Neoplasm Of Pleura

  • Pleural Tumor

  • Malignant Tumor Of Pleura

  • Pleural Cavity Cancer

  • Primary Malignant Neoplasm Of Parietal Pleura

  • Primary Malignant Neoplasm Of Pleura

  • Primary Malignant Neoplasm Of Visceral Pleura
Folate Malabsorption, Hereditary

  • Hereditary Folate Malabsorption

  • Congenital Defect Of Folate Absorption

  • Congenital Folate Malabsorption

  • Folic Acid Transport Defect

  • HFM
Amyotrophic Lateral Sclerosis 1

  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05280 GART Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18934 Gart Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25424 Gart Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GART RGD RGD:1308717
Macaca mulatta GART VGNC VGNC:72882
Mus musculus GART MGD MGI:95654
Felis catus GART VGNC VGNC:62466
Bos taurus GART VGNC VGNC:29255
Others GART NCBI