Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5635
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoribosyl pyrophosphate synthetase associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRPSAP1
Synonyms (NCBI Gene) Gene synonyms aliases
PAP39
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021127 hsa-miR-186-5p Sequencing 20371350
MIRT031682 hsa-miR-16-5p Proteomics 18668040
MIRT031682 hsa-miR-16-5p CLASH 23622248
MIRT039657 hsa-miR-615-3p CLASH 23622248
MIRT039657 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0004857 Function Enzyme inhibitor activity TAS 8132556
GO:0005515 Function Protein binding IPI 16189514, 25416956, 25910212, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0006015 Process 5-phosphoribose 1-diphosphate biosynthetic process IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601249 9466 ENSG00000161542
Protein
UniProt ID Q14558
Protein name Phosphoribosyl pyrophosphate synthase-associated protein 1 (PRPP synthase-associated protein 1) (39 kDa phosphoribosypyrophosphate synthase-associated protein) (PAP39)
Protein function Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.
PDB 2C4K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13793 Pribosyltran_N 9 126 N-terminal domain of ribose phosphate pyrophosphokinase Domain
PF14572 Pribosyl_synth 167 350 Phosphoribosyl synthetase-associated domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 356
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
Carcinoma Hepatocellular Inhibit 28732507
Ovarian Neoplasms Associate 31469419