Gene Gene information from NCBI Gene database.
Entrez ID 5471
Gene name Phosphoribosyl pyrophosphate amidotransferase
Gene symbol PPAT
Synonyms (NCBI Gene)
ATASEGPATPRAT
Chromosome 4
Chromosome location 4q12
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 b
miRNA miRNA information provided by mirtarbase database.
324
miRTarBase ID miRNA Experiments Reference
MIRT005010 hsa-miR-125b-5p Microarray 17891175
MIRT024474 hsa-miR-215-5p Microarray 19074876
MIRT026845 hsa-miR-192-5p Microarray 19074876
MIRT027826 hsa-miR-98-5p Microarray 19088304
MIRT030142 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004044 Function Amidophosphoribosyltransferase activity IBA
GO:0004044 Function Amidophosphoribosyltransferase activity IEA
GO:0004044 Function Amidophosphoribosyltransferase activity TAS 8106516
GO:0005515 Function Protein binding IPI 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172450 9238 ENSG00000128059
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q06203
Protein name Amidophosphoribosyltransferase (ATase) (EC 2.4.2.14) (Glutamine phosphoribosylpyrophosphate amidotransferase) (GPAT)
Protein function Catalyzes the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13522 GATase_6 64 216 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8380692}.
Sequence
MELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPT
FKSHKGMGLVNHVFTEDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVA
HNGELVNAARLRKKLLRHGIGLSTSSDSEMITQLLAYTPPQEQDDTPDWVARIKNLMKEA
PTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSD
INDKEKKTSETEGWVVSSESCSFL
SIGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEDQMVY
TVRYRCGQQLAIEAPVDADLVSTVPESATPAALAYAGKCGLPYVEVLCKNRYVGRTFIQP
NMRLRQLGVAKKFGVLSDNFKGKRIVLVDDSIVRGNTISPIIKLLKESGAKEVHIRVASP
PIKYPCFMGINIPTKEELIANKPEFDHLAEYLGANSVVYLSVEGLVSSVQEGIKFKKQKE
KKHDIMIQENGNGLECFEKSGHCTACLTGKYPVELEW
Sequence length 517
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2545651685 RCV004557898
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 39735553
Breast Neoplasms Associate 30463022
Carcinoma Hepatocellular Associate 33407546
Carcinoma Renal Cell Associate 35798250
Colorectal Neoplasms Associate 20459617
Diabetic Foot Associate 38287255
Inflammation Associate 32256495
Xeroderma Pigmentosum Associate 8512814