PFAS (phosphoribosylformylglycinamidine synthase)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 5198 |
| Gene name | Phosphoribosylformylglycinamidine synthase |
| Gene symbol | PFAS |
| Synonyms (NCBI Gene) |
FGAMSFGAR-ATFGARATGATD8PURL
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| Chromosome | 17 |
| Chromosome location | 17p13.1 |
| Summary | 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 encode |
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miRNA
miRNA information provided by mirtarbase database.
399
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O15067 | ||||||||||||||||||||||||||||||
| Protein name | Phosphoribosylformylglycinamidine synthase (FGAM synthase) (FGAMS) (EC 6.3.5.3) (Formylglycinamide ribonucleotide amidotransferase) (FGAR amidotransferase) (FGAR-AT) (Formylglycinamide ribotide amidotransferase) (Phosphoribosylformylglycineamide amidotran | ||||||||||||||||||||||||||||||
| Protein function | Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and gluta | ||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence | |||||||||||||||||||||||||||||||
| Sequence length | 1338 | ||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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