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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Alanine, aspartate and glutamate metabolism
Metabolic pathways
  Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 39735553
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 30463022
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 33407546
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 35798250
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 20459617
★☆☆☆☆
Found in Text Mining only
Diabetic Foot Associate 38287255
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 32256495
★☆☆☆☆
Found in Text Mining only
Xeroderma Pigmentosum Associate 8512814
★☆☆☆☆
Found in Text Mining only