PRPSAP2 Gene Summary [Human]

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Details

Type
Protein Coding
Official Symbol
PRPSAP2
Official Name
phosphoribosyl pyrophosphate synthetase associated protein 2 [Source:HGNC Symbol;Acc:HGNC:9467]
Ensembl ID
ENSG00000141127
Bio databases IDs NCBI: 5636 Ensembl: ENSG00000141127
Aliases phosphoribosyl pyrophosphate synthetase associated protein 2
Synonyms A230054F23Rik, PAP41, phosphoribosyl pyrophosphate synthetase-associated protein 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRPSAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • enzyme inhibitor activity
  • Phosphoribosyl transferase (PRT)-type I domain
  • ribose-phosphate pyrophosphokinase
  • protein binding
  • Phosphoribosyl synthetase-associated domain
  • PRK00934
  • N-terminal domain of ribose phosphate pyrophosphokinase
  • identical protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • gout
  • pancreatic epithelial cancer
  • pancreatic carcinoma
  • systemic autoimmune syndrome
regulates
  • nucleic acid component or derivative

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Unknown

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PRPSAP2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • purine nucleotide biosynthetic process
  • nucleobase-containing compound metabolic process
  • 5-phosphoribose 1-diphosphate biosynthetic process
  • bone development

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • ribose phosphate diphosphokinase complex

Molecular Function

What the gene product does at the molecular level
  • magnesium ion binding
  • ATP binding
  • identical protein binding
  • protein binding
  • enzyme inhibitor activity
  • ribose phosphate diphosphokinase activity

Gene-Specific Assays for Results You Can Trust

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