PFAS Gene Summary [Human]
Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PFAS |
| Official Name | phosphoribosylformylglycinamidine synthase [Source:HGNC Symbol;Acc:HGNC:8863] |
| Ensembl ID | ENSG00000178921 |
| Bio databases IDs | |
| Aliases | phosphoribosylformylglycinamidine synthase, FGAR amidotransferase |
| Synonyms | 4432409B16, 4432409B16Rik, FGAMS, FGAR amidotransferase, FGAR-AT, GATD8, Gm18, Hs.88139, LOC687570, LOC687787, phosphoribosylformylglycinamidine synthase, phosphoribosylformylglycinamidine synthase (FGAR amidotransferase), PURL, Sofa |
| Species | Human, Homo sapiens |
| Orthologies |
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 PFAS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoribosylformylglycinamidine synthase II
- CobB/CobQ-like glutamine amidotransferase domain
- PRK05297
- PurM-like
- enzyme
- Formylglycinamide ribonucleotide amidotransferase N-terminal
- phosphoribosylformylglycinamidine synthase
- phosphoribosylformylglycinamidine synthase, single chain form
- phosphoribosylformylglycinamidine synthase I
- herpesvirus tegument protein/v-FGAM-synthase
- Formylglycinamide ribonucleotide amidotransferase linker domain
- Type 1 glutamine amidotransferase (GATase1)-like domain
- AIR synthase related protein, C-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- rheumatoid arthritis
- pervasive developmental disorder
- septic shock
role in cell
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PFAS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 'de novo' AMP biosynthetic process
- purine nucleotide biosynthetic process
- 'de novo' IMP biosynthetic process
- glutamine metabolic process
- GMP biosynthetic process
- purine ribonucleoside monophosphate biosynthetic process
- response to xenobiotic stimulus
- 'de novo' XMP biosynthetic process
- anterior head development
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- metal ion binding
- phosphoribosylformylglycinamidine synthase activity