Gene Gene information from NCBI Gene database.
Entrez ID 5198
Gene name Phosphoribosylformylglycinamidine synthase
Gene symbol PFAS
Synonyms (NCBI Gene)
FGAMSFGAR-ATFGARATGATD8PURL
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
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT051541 hsa-let-7e-5p CLASH 23622248
MIRT050032 hsa-miR-27a-3p CLASH 23622248
MIRT048843 hsa-miR-93-5p CLASH 23622248
MIRT048110 hsa-miR-197-3p CLASH 23622248
MIRT047554 hsa-miR-10a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004642 Function Phosphoribosylformylglycinamidine synthase activity IBA
GO:0004642 Function Phosphoribosylformylglycinamidine synthase activity IDA 10548741, 27590927
GO:0004642 Function Phosphoribosylformylglycinamidine synthase activity IEA
GO:0004642 Function Phosphoribosylformylglycinamidine synthase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602133 8863 ENSG00000178921
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF18076 FGAR-AT_N 39 160 Formylglycinamide ribonucleotide amidotransferase N-terminal Domain
PF18072 FGAR-AT_linker 184 232 Formylglycinamide ribonucleotide amidotransferase linker domain Domain
PF02769 AIRS_C 444 603 AIR synthase related protein, C-terminal domain Domain
PF02769 AIRS_C 848 991 AIR synthase related protein, C-terminal domain Domain
PF13507 GATase_5 1062 1333 Domain
Sequence
MSPVLHFYVRPSGHEGAAPGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKL
MWLFGCPLLLDDVARESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVE
TTRRYRLSFAHPPSAEVEAIALATLHDRMTEQHFPHPIQS
FSPESMPEPLNGPINILGEG
RLALEKANQELGLALDSWDLDFYTKRFQELQRNPSTVEAFDLAQSNSEHSRHWFFKGQLH
VDGQKLVHSLFESIMSTQESSNPNNVLKFCDNSSAIQGKEVRFLRPEDPTRPSRFQQQQG
LRHVVFTAETHNFPTGVCPFSGATTGTGGRIRDVQCTGRGAHVVAGTAGYCFGNLHIPGY
NLPWEDPSFQYPGNFARPLEVAIEASNGASDYGNKFGEPVLAGFARSLGLQLPDGQRREW
IKPIMFSGGIGSMEADHISKEAPEPGMEVVKVGGPVYRIGVGGGAASSVQVQGDNTSDLD
FGAVQRGDPEMEQKMNRVIRACVEAPKGNPICSLHDQGAGGNGNVLKELSDPAGAIIYTS
RFQLGDPTLNALEIWGAEYQESNALLLRSPNRDFLTHVSARERCPACFVGTITGDRRIVL
VDD
RECPVRRNGQGDAPPTPLPTPVDLELEWVLGKMPRKEFFLQRKPPMLQPLALPPGLS
VHQALERVLRLPAVASKRYLTNKVDRSVGGLVAQQQCVGPLQTPLADVAVVALSHEELIG
AATALGEQPVKSLLDPKVAARLAVAEALTNLVFALVTDLRDVKCSGNWMWAAKLPGEGAA
LADACEAMVAVMAALGVAVDGGKDSLSMAARVGTETVRAPGSLVISAYAVCPDITATVTP
DLKHPEGRGHLLYVALSPGQHRLGGTALAQCFSQLGEHPPDLDLPENLVRAFSITQGLLK
DRLLCSGHDVSDGGLVTCLLEMAFAGNCGLQVDVPVPRVDVLSVLFAEEPGLVLEVQEPD
LAQVLKRYRDAGLHCLELGHTGEAGPHAMVR
VSVNGAVVLEEPVGELRALWEETSFQLDR
LQAEPRCVAEEERGLRERMGPSYCLPPTFPKASVPREPGGPSPRVAILREEGSNGDREMA
DAFHLAGFEVWDVTMQDLCSGAIGLDTFRGVAFVGGFSYADVLGSAKGWAAAVTFHPRAG
AELRRFRKRPDTFSLGVCNGCQLLALLGWVGGDPNEDAAEMGPDSQPARPGLLLRHNLSG
RYESRWASVRVGPGPALMLRGMEGAVLPVWSAHGEGYVAFSSPELQAQIEARGLAPLHWA
DDDGNPTEQYPLNPNGSPGGVAGICSCDGRHLAVMPHPERAVRPWQWAWRPPPFDTLTTS
PWLQLFINARNWT
LEGSC
Sequence length 1338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
  Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Graves Ophthalmopathy Associate 37884559
★☆☆☆☆
Found in Text Mining only
Retinoblastoma Associate 37228185
★☆☆☆☆
Found in Text Mining only