Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5471
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoribosyl pyrophosphate amidotransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPAT
Synonyms (NCBI Gene) Gene synonyms aliases
ATASE, GPAT, PRAT
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172450 9238 ENSG00000128059
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease 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