Human Gene PFAS (uc002gkr.3) Description and Page Index
  Description: Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.
RefSeq Summary (NM_012393): 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]. ##Evidence-Data-START## Transcript exon combination :: BC146768.1, SRR1660809.69783.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000314666.11/ ENSP00000313490.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:8,152,596-8,173,809 Size: 21,214 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr17:8,157,256-8,172,582 Size: 15,327 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:8,152,596-8,173,809)mRNA (may differ from genome)Protein (1338 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Phosphoribosylformylglycinamidine synthase; Short=FGAM synthase; Short=FGAMS; EC=; AltName: Full=Formylglycinamide ribotide amidotransferase; Short=FGARAT; AltName: Full=Formylglycinamide ribotide synthetase;
CATALYTIC ACTIVITY: ATP + N(2)-formyl-N(1)-(5-phospho-D- ribosyl)glycinamide + L-glutamine + H(2)O = ADP + phosphate + 2- (formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine + L-glutamate.
PATHWAY: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5- phospho-D-ribosyl)glycinamide: step 1/2.
INTERACTION: P11171:EPB41; NbExp=1; IntAct=EBI-1052653, EBI-1050906; P30480:HLA-B; NbExp=1; IntAct=EBI-1052653, EBI-1054175; P23508:MCC; NbExp=1; IntAct=EBI-1052653, EBI-307531; P19532:TFE3; NbExp=1; IntAct=EBI-1052653, EBI-1048957; Q9UBN6:TNFRSF10D; NbExp=1; IntAct=EBI-1052653, EBI-1044859; Q9Y4K3:TRAF6; NbExp=1; IntAct=EBI-1052653, EBI-359276; P40337:VHL; NbExp=1; IntAct=EBI-1052653, EBI-301246;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SIMILARITY: In the N-terminal section; belongs to the FGAMS family.
SIMILARITY: Contains 1 glutamine amidotransferase type-1 domain.
SEQUENCE CAUTION: Sequence=BAA20816.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PFAS
CDC HuGE Published Literature: PFAS

-  MalaCards Disease Associations
  MalaCards Gene Search: PFAS
Diseases sorted by gene-association score: alcohol-related neurodevelopmental disorder (19), partial fetal alcohol syndrome (18), fetal alcohol spectrum disorder (13), toxic megacolon (11), fetal alcohol syndrome (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.80 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 199.40 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.90141-0.191 Picture PostScript Text
3' UTR -393.501227-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010918 - AIR_synth_C_dom
IPR000728 - AIR_synth_N_dom
IPR017926 - GATASE_1
IPR010073 - PRibForGlyAmidine_synth
IPR016188 - PurM_N-like

Pfam Domains:
PF02769 - AIR synthase related protein, C-terminal domain
PF13507 - CobB/CobQ-like glutamine amidotransferase domain

SCOP Domains:
109736 - FGAM synthase PurL, linker domain
52317 - Class I glutamine amidotransferase-like
56042 - PurM C-terminal domain-like
82697 - PurS-like
55326 - PurM N-terminal domain-like

ModBase Predicted Comparative 3D Structure on O15067
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004642 phosphoribosylformylglycinamidine synthase activity
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006164 purine nucleotide biosynthetic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0006541 glutamine metabolic process
GO:0009156 ribonucleoside monophosphate biosynthetic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0042493 response to drug
GO:0097065 anterior head development

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  KJ897317 - Synthetic construct Homo sapiens clone ccsbBroadEn_06711 PFAS gene, encodes complete protein.
AK292804 - Homo sapiens cDNA FLJ75059 complete cds, highly similar to Homo sapiens phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) (PFAS), mRNA.
AK295895 - Homo sapiens cDNA FLJ61288 complete cds, highly similar to Phosphoribosylformylglycinamidine synthase (EC
AK292402 - Homo sapiens cDNA FLJ77779 complete cds, highly similar to Homo sapiens phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) (PFAS), mRNA.
AB002359 - Homo sapiens mRNA for KIAA0361 gene.
BC146768 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone MGC:166843 IMAGE:9007213), complete cds.
BC167158 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone MGC:176698 IMAGE:8862577), complete cds.
JD130194 - Sequence 111218 from Patent EP1572962.
JD418309 - Sequence 399333 from Patent EP1572962.
JD382897 - Sequence 363921 from Patent EP1572962.
JD184838 - Sequence 165862 from Patent EP1572962.
JD044226 - Sequence 25250 from Patent EP1572962.
JD184839 - Sequence 165863 from Patent EP1572962.
JD044234 - Sequence 25258 from Patent EP1572962.
JD099630 - Sequence 80654 from Patent EP1572962.
JD516987 - Sequence 498011 from Patent EP1572962.
AB385316 - Synthetic construct DNA, clone: pF1KA0361, Homo sapiens PFAS gene for phosphoribosylformylglycinamidine synthase, complete cds, without stop codon, in Flexi system.
AY545554 - Homo sapiens PFAS-like mRNA, complete sequence.
BC063538 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone IMAGE:4443422), partial cds.
DQ576789 - Homo sapiens piRNA piR-44901, complete sequence.
BC006522 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone IMAGE:3505782), partial cds.
BC031807 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone IMAGE:4474255), with apparent retained intron.
BC009318 - Homo sapiens phosphoribosylformylglycinamidine synthase, mRNA (cDNA clone IMAGE:4120764), with apparent retained intron.
JD275838 - Sequence 256862 from Patent EP1572962.
JD414423 - Sequence 395447 from Patent EP1572962.
JD106406 - Sequence 87430 from Patent EP1572962.
JD465068 - Sequence 446092 from Patent EP1572962.
JD167029 - Sequence 148053 from Patent EP1572962.
JD489345 - Sequence 470369 from Patent EP1572962.
JD330486 - Sequence 311510 from Patent EP1572962.
JD520163 - Sequence 501187 from Patent EP1572962.
JD364297 - Sequence 345321 from Patent EP1572962.
JD480141 - Sequence 461165 from Patent EP1572962.
JD352879 - Sequence 333903 from Patent EP1572962.
JD526202 - Sequence 507226 from Patent EP1572962.
JD070199 - Sequence 51223 from Patent EP1572962.
JD397833 - Sequence 378857 from Patent EP1572962.
JD416255 - Sequence 397279 from Patent EP1572962.
JD072133 - Sequence 53157 from Patent EP1572962.
JD242804 - Sequence 223828 from Patent EP1572962.
JD064359 - Sequence 45383 from Patent EP1572962.
JD117801 - Sequence 98825 from Patent EP1572962.
JD108014 - Sequence 89038 from Patent EP1572962.
JD304126 - Sequence 285150 from Patent EP1572962.
JD312104 - Sequence 293128 from Patent EP1572962.
JD346586 - Sequence 327610 from Patent EP1572962.
JD482434 - Sequence 463458 from Patent EP1572962.
JD356538 - Sequence 337562 from Patent EP1572962.
JD357368 - Sequence 338392 from Patent EP1572962.
JD184808 - Sequence 165832 from Patent EP1572962.
JD091380 - Sequence 72404 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6121 - 5-aminoimidazole ribonucleotide biosynthesis I
PWY-6122 - 5-aminoimidazole ribonucleotide biosynthesis II
PWY-6277 - superpathway of 5-aminoimidazole ribonucleotide biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O15067 (Reactome details) participates in the following event(s):

R-HSA-73812 FGAR + L-Glutamine + ATP + H2O => FGAM + L-Glutamate + ADP + Pi
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6H8V8, KIAA0361, NM_012393, NP_036525, O15067, PUR4_HUMAN
UCSC ID: uc002gkr.3
RefSeq Accession: NM_012393
Protein: O15067 (aka PUR4_HUMAN)
CCDS: CCDS11136.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_012393.2
exon count: 28CDS single in 3' UTR: no RNA size: 5400
ORF size: 4017CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 8220.50frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.