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PPAT - phosphoribosyl pyrophosphate amidotransferase Gene

Also Known as GPAT; PRAT; ATASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5471

About PPAT

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,393,362-56,435,615 (from NCBI)

This gene has 5 transcripts (splice variants) and 214 orthologues. Ubiquitous expression in testis (RPKM 6.9), lymph node (RPKM 5.0) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]

PPAT Products (1)

mRNA	Protein	Name
NM_002703.5	NP_002694.3	amidophosphoribosyltransferase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

PPAT Protein Structure

GATase_2

Pribosyltran

0
100
200
300
400
517 a.a.

Protein Preferred Names	Protein Names
amidophosphoribosyltransferase	glutamine PRPP amidotransferase

PPAT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PPAT	Q06203	NUDT5	Homo sapiens	Q9UKK9	Anti Tag CoIP	33961781
Intra	PPAT	Q06203	NUDT5	Homo sapiens	Q9UKK9	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Phosphoribosylpyrophosphate Synthetase Superactivity	PRPS1 SUPERACTIVITY Prpp Synthetase Superactivity Gout, Prps-Related Prpp Synthetase Deficiency Prpp Synthetase Overactivity Prs Overactivity Prs Superactivity Mild Phosphoribosylpyrophosphate Synthetase Superactivity Mild Prpp Synthetase Superactivity Mild Prps1 Superactivity Severe Phosphoribosylpyrophosphate Synthetase Superactivity Severe Prpp Synthetase Superactivity Severe Prps1 Superactivity Prps-Related Gout Superactivity, Phosphoribosylpyrophosphate Synthetase
Subacute Leukemia
Immunodeficiency 24	Severe Combined Immunodeficiency Due To Ctps1 Deficiency IMD24 Scid Due To Ctps1 Deficiency Immunodeficiency, Type 24
Hyperuricemia, Hprt-Related	Hprt-Related Gout Kelley-Seegmiller Syndrome Hprt Deficiency, Partial HRH Gout, Hprt-Related Hprt1 Deficiency, Partial Hrpt-Related Hyperuricemia Hprt Deficiency, Grade I Hprt Partial Deficiency Hprt-Related Hyperuricemia Hprt1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial Hyperuricemia, Hrpt-Related
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02946	COASY Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10932	PPAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18044	Ppat Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18993	Coasy Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24518	Ppat Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W1143867	4’-Phosphopantetheine	Inhibitor	97.8%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PPAT	MGD	MGI:2387203
Macaca mulatta	PPAT	VGNC	VGNC:76231
Rattus norvegicus	PPAT	RGD	RGD:620237
Bos taurus	PPAT	VGNC	VGNC:33186
Felis catus	PPAT	VGNC	VGNC:68979
Canis familiaris	PPAT	VGNC	VGNC:44839
Others	PPAT	NCBI