• Gene id: 5471

Gene Summary

• Gene Symbol: PPAT   Gene   UCSC   Ensembl
• Aliases: ATASE, GPAT, PRAT
• Gene name: phosphoribosyl pyrophosphate amidotransferase
• Alternate names: amidophosphoribosyltransferase, glutamine PRPP amidotransferase, glutamine phosphoribosylpyrophosphatate amidotransferase, glutamine phosphoribosylpyrophosphate amidotransferase,
• Gene location: 4q12 (56435614: 56393361)     Exons: 11     NC_000004.12
• Gene summary(Entrez): 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 b
• OMIM: 603662

Protein Summary

• Protein general information: Q06203  
  • Name: Amidophosphoribosyltransferase (ATase) (EC 2.4.2.14) (Glutamine phosphoribosylpyrophosphate amidotransferase) (GPAT)
  • Length: 517  
  • Mass: 57399
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPTFKSHKGMGLVNHVFT
  EDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVAHNGELVNAARLRKKLLRHGIGLSTSSDSEM
  ITQLLAYTPPQEQDDTPDWVARIKNLMKEAPTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSDINDKEKKTS
  ETEGWVVSSESCSFLSIGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEDQMVY
  TVRYRCGQQLAIEAPVDADLVSTVPESATPAALAYAGKCGLPYVEVLCKNRYVGRTFIQPNMRLRQLGVAKKFGV
  LSDNFKGKRIVLVDDSIVRGNTISPIIKLLKESGAKEVHIRVASPPIKYPCFMGINIPTKEELIANKPEFDHLAE
  YLGANSVVYLSVEGLVSSVQEGIKFKKQKEKKHDIMIQENGNGLECFEKSGHCTACLTGKYPVELEW

• Structural information:
  • Protein Domains: (12..26-)
    type-2 (/note="Glutamine-amidotransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00609"-)
  • Interpro: IPR017932  IPR029055  IPR000836  IPR029057  IPR005854   IPR035584  
  • Prosite: PS51278 PS00103
  • CDD: cd00715 cd06223
  • STRING: ENSP00000264220
• Other Databases: GeneCards:  PPAT  Malacards:  PPAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0004044	amidophosphoribosyltransferase activity	IEA	molecular function
GO:0009113	purine nucleobase biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0004044	amidophosphoribosyltransferase activity	TAS	molecular function
GO:0006164	purine nucleotide biosynthetic process	TAS	biological process
GO:0004044	amidophosphoribosyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0004044	amidophosphoribosyltransferase activity	IEA	molecular function
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0019693	ribose phosphate metabolic process	IEA	biological process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0006543	glutamine catabolic process	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IEA	biological process
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray