GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Gene

Homo sapiens

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

Gene ID: 2618 | Gene type: protein coding

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

GART Protein Structure

GARS_N

GARS_A

GARS_C

AIRS

AIRS_C

Formyl_trans_N

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05280	GART Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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