Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniPathway vocabulary mapping

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

UniProtKB entry P60891 (PRPS1_HUMAN), Ribose-phosphate pyrophosphokinase 1

Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

Towards a proteome-scale map of the human protein-protein interaction network.

Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site.

Arts syndrome is caused by loss-of-function mutations in PRPS1.

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

A proteome-scale map of the human interactome network.

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

Widespread macromolecular interaction perturbations in human genetic disorders.

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.

Architecture of the human interactome defines protein communities and disease networks.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

A reference map of the human binary protein interactome.

Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains.

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

Multimodal cell maps as a foundation for structural and functional genomics.

The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.

PRPS1 dimer pyrophosphorylates R5P using dATP

PRPS dimers pyrophosphorylate R5P using ATP