PPAT - phosphoribosyl pyrophosphate amidotransferase Gene

Homo sapiens

Also known as GPAT; PRAT; ATASE

Gene ID: 5471 | Gene type: protein coding

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

PPAT Protein Structure

GATase_2

Pribosyltran

0
100
200
300
400
517 a.a.

Protein Preferred Names

Protein Names

amidophosphoribosyltransferase

glutamine PRPP amidotransferase

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10932	PPAT Human Pre-designed siRNA Set A		/	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