• Gene id: 5198

Gene Summary

• Gene Symbol: PFAS   Gene   UCSC   Ensembl
• Aliases: FGAMS, FGAR-AT, FGARAT, GATD8, PURL
• Gene name: phosphoribosylformylglycinamidine synthase
• Alternate names: phosphoribosylformylglycinamidine synthase, FGAM synthase, FGAR amidotransferase, IKZF1/PFAS fusion, formylglycinamide ribonucleotide amidotransferase, formylglycinamide ribotide amidotransferase, formylglycinamide ribotide synthetase,
• Gene location: 17p13.1 (8247595: 8270490)     Exons: 30     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 602397

Protein Summary

• Protein general information: O15067  
  • Name: Phosphoribosylformylglycinamidine synthase (FGAM synthase) (FGAMS) (EC 6.3.5.3) (Formylglycinamide ribonucleotide amidotransferase) (FGAR amidotransferase) (FGAR AT) (Formylglycinamide ribotide amidotransferase)
  • Length: 1338  
  • Mass: 144734
• Sequence:

  MSPVLHFYVRPSGHEGAAPGHTRRKLQGKLPELQGVETELCYNVNWTAEALPSAEETKKLMWLFGCPLLLDDVAR
  ESWLLPGSNDLLLEVGPRLNFSTPTSTNIVSVCRATGLGPVDRVETTRRYRLSFAHPPSAEVEAIALATLHDRMT
  EQHFPHPIQSFSPESMPEPLNGPINILGEGRLALEKANQELGLALDSWDLDFYTKRFQELQRNPSTVEAFDLAQS
  NSEHSRHWFFKGQLHVDGQKLVHSLFESIMSTQESSNPNNVLKFCDNSSAIQGKEVRFLRPEDPTRPSRFQQQQG
  LRHVVFTAETHNFPTGVCPFSGATTGTGGRIRDVQCTGRGAHVVAGTAGYCFGNLHIPGYNLPWEDPSFQYPGNF
  ARPLEVAIEASNGASDYGNKFGEPVLAGFARSLGLQLPDGQRREWIKPIMFSGGIGSMEADHISKEAPEPGMEVV
  KVGGPVYRIGVGGGAASSVQVQGDNTSDLDFGAVQRGDPEMEQKMNRVIRACVEAPKGNPICSLHDQGAGGNGNV
  LKELSDPAGAIIYTSRFQLGDPTLNALEIWGAEYQESNALLLRSPNRDFLTHVSARERCPACFVGTITGDRRIVL
  VDDRECPVRRNGQGDAPPTPLPTPVDLELEWVLGKMPRKEFFLQRKPPMLQPLALPPGLSVHQALERVLRLPAVA
  SKRYLTNKVDRSVGGLVAQQQCVGPLQTPLADVAVVALSHEELIGAATALGEQPVKSLLDPKVAARLAVAEALTN
  LVFALVTDLRDVKCSGNWMWAAKLPGEGAALADACEAMVAVMAALGVAVDGGKDSLSMAARVGTETVRAPGSLVI
  SAYAVCPDITATVTPDLKHPEGRGHLLYVALSPGQHRLGGTALAQCFSQLGEHPPDLDLPENLVRAFSITQGLLK
  DRLLCSGHDVSDGGLVTCLLEMAFAGNCGLQVDVPVPRVDVLSVLFAEEPGLVLEVQEPDLAQVLKRYRDAGLHC
  LELGHTGEAGPHAMVRVSVNGAVVLEEPVGELRALWEETSFQLDRLQAEPRCVAEEERGLRERMGPSYCLPPTFP
  KASVPREPGGPSPRVAILREEGSNGDREMADAFHLAGFEVWDVTMQDLCSGAIGLDTFRGVAFVGGFSYADVLGS
  AKGWAAAVTFHPRAGAELRRFRKRPDTFSLGVCNGCQLLALLGWVGGDPNEDAAEMGPDSQPARPGLLLRHNLSG
  RYESRWASVRVGPGPALMLRGMEGAVLPVWSAHGEGYVAFSSPELQAQIEARGLAPLHWADDDGNPTEQYPLNPN
  GSPGGVAGICSCDGRHLAVMPHPERAVRPWQWAWRPPPFDTLTTSPWLQLFINARNWTLEGSC

• Structural information:
  • Protein Domains: (1064..130-)
    type-1" (/note="Glutamine-amidotransferase)
  • Interpro: IPR029062  IPR040707  IPR017926  IPR010073  IPR041609   IPR010918  IPR036676  IPR036921  IPR036604  
  • Prosite: PS51273
  • STRING: ENSP00000313490
• Other Databases: GeneCards:  PFAS  Malacards:  PFAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004642	phosphoribosylformylglycinamidine synthase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0009113	purine nucleobase biosynthetic process	IBA	biological process
GO:0004642	phosphoribosylformylglycinamidine synthase activity	IEA	molecular function
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0004642	phosphoribosylformylglycinamidine synthase activity	IEA	molecular function
GO:0004642	phosphoribosylformylglycinamidine synthase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0097065	anterior head development	IEA	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006189	'de novo' IMP biosynthetic process	IEA	biological process
GO:0004642	phosphoribosylformylglycinamidine synthase activity	IDA	molecular function
GO:0006189	'de novo' IMP biosynthetic process	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq