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0PUR4_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NamePFAS
DescriptionPhosphoribosylformylglycinamidine synthase (ec 6.3.5.3) (fgam synthase) (fgams) (formylglycinamide ribotide amidotransferase) (fgarat) (formylglycinamide ribotide synthetase).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005737 cytoplasm (NAS)
0004642 phosphoribosylformylglycinamidine synthase ... (IEP)
0006189 'de novo' IMP biosynthesis (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
This entry includes Hydrogen expression/formation protein.ypE.hich may be involved in the maturation of NifE hydrogenase; AIR synthase and FGAM synthase.hich are involved in de novo purine biosynthesis; and selenide.ater dikinase.n enzyme which synthesizes selenophosphate from selenide and ATP.
  IPR010918:AIR synthase related protein, C-terminal
This family includes Hydrogen expression/formation protein.ypE.hich may be involved inthe maturation of NifE hydrogenase; AIR synthase and FGAM synthase.hich are involved inde novo purine biosynthesis; and selenide.ater dikinase.n enzyme which synthesizesselenophosphate from selenide and ATP.
  IPR000728:AIR synthase related protein
This entry represents a single-molecule form of phosphoribosylformylglycinamidine synthase.lso called FGAM synthase.n enzyme of purine de novo biosynthesis. This form is found mostly in eukaryotes and proteobacteria. In Bacillus subtilis PurL (FGAM synthase II) and PurQ (FGAM synthase I) perform the equivalent function; the unrelated small protein PurS is also required and may be a third subunit .
  IPR010073:Phosphoribosylformylglycinamidine synthase, eukaryotes and proteobacteria
IPR010918:AIRS_C 
Evalue:-29.1426677703857 
Location:444-603IPR010918:AIRS_C 
Evalue:-24.6777801513672 
Location:847-992IPR000728:AIRS 
Evalue:-23.0362129211426 
Location:259-434
SequencesProtein: PUR4_HUMAN (1338 aa)
mRNA: NM_012393
Local Annotation
Synapse Ontology
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentK01952
  Level 3 annotation:
    phosphoribosylformylglycinamidine synthase
  Level 2 annotation:
    Purine metabolism
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 8 residues, 8093361-8093382Exon2: 75 residues, 8097901-8098122Exon3: 47 residues, 8098208-8098344Exon4: 37 residues, 8099069-8099175Exon5: 65 residues, 8099544-8099734Exon6: 37 residues, 8099847-8099953Exon7: 49 residues, 8100309-8100450Exon8: 43 residues, 8100566-8100691Exon9: 45 residues, 8100877-8101006Exon10: 46 residues, 8101849-8101981Exon11: 45 residues, 8102113-8102242Exon12: 26 residues, 8106962-8107036Exon13: 54 residues, 8107151-8107308Exon14: 22 residues, 8107617-8107679Exon15: 56 residues, 8107817-8107979Exon16: 44 residues, 8108254-8108380Exon17: 46 residues, 8108512-8108644Exon18: 79 residues, 8108937-8109168Exon19: 62 residues, 8109330-8109511Exon20: 30 residues, 8109598-8109682Exon21: 54 residues, 8109904-8110060Exon22: 42 residues, 8110276-8110396Exon23: 50 residues, 8110795-8110941Exon24: 71 residues, 8111070-8111278Exon25: 32 residues, 8111414-8111506Exon26: 40 residues, 8111593-8111708Exon27: 110 residues, 8112575-8112899Exon28: 512 residues, 8112996-8114528Exon29: 2 residues, -Jump to PUR4_HUMAN  
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Loci Cluster (Details)Loci: 4258 6644024-6675784 ~-32K 14997(TEKT1)(-)Loci: 4259 7033935-7063745 ~-30K 15014(DLG4)(-)Loci: 2974 7063876-7069308 ~-5K 15016(ACADVL)(+)Loci: 4260 7084462-7086477 ~-2K 15021(GABARAP)(-)Loci: 2975 7252225-7263903 ~-12K 15047(NLGN2)(+)Loci: 2976 7289129-7301655 ~-13K 15051(CHRNB1)(+)Loci: 2977 7427889-7432228 ~-4K 15066(MPDU1)(+)Loci: 2978 7474184-7477419 ~-3K 15071(SHBG)(+)Loci: 4261 7512446-7531642 ~-19K 15074(TP53)(-)Loci: 4262 7774391-7775983 ~-2K 15094(TRAPPC1)(-)Loci: 2979 7846716-7864382 ~-18K 15097(GUCY2D)(+)Loci: 4263 8004447-8006987 ~-3K 15108(VAMP2)(-)Loci: 2980 8093361-8114528 ~-21K 15119(PFAS)(+)Loci: 2981 8279988-8330396 ~-50K 15135(+)Loci: 2973 6620295-6631688 ~-11K 14996(FBXO39)(+)Link out to UCSC