FB2025_01 , released February 20, 2025
Gene: Dmel\Pfas
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General Information
Symbol
Dmel\Pfas
Species
D. melanogaster
Name
Phosphoribosylformylglycinamidine synthase
Annotation Symbol
CG9127
Feature Type
FlyBase ID
FBgn0000052
Gene Model Status
Stock Availability
Enzyme Name (EC)
phosphoribosylformylglycinamidine synthase (6.3.5.3)
Gene Summary
Phosphoribosylformylglycinamidine synthase (Pfas) encodes a phosphoribosylformylglycinamidine synthase, which is an essential enzyme in the pathway for de novo synthesis of the purine nucleotide inosine monophosphate (IMP). IMP is the precursor for purine nucleotides required for nucleic acids, energy transfer, cell signaling, and coenzymes. [Date last reviewed: 2019-03-14] (FlyBase Gene Snapshot)
Also Known As

ade2, adenosine 2

Key Links
Genomic Location
Cytogenetic map
Sequence location
Recombination map
2-18
RefSeq locus
NT_033779 REGION:6041181..6046050
Sequence
Genomic Maps
Other Genome Views
The following external sites may use different assemblies or annotations than FlyBase.
Function
Gene Ontology (GO) Annotations (5 terms)
Molecular Function (1 term)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
inferred from electronic annotation with InterPro:IPR010073
inferred from biological aspect of ancestor with PANTHER:PTN008493809
inferred from sequence or structural similarity with SGD:S000003293
Biological Process (3 terms)
Terms Based on Experimental Evidence (1 term)
CV Term
Evidence
References
inferred from mutant phenotype
Terms Based on Predictions or Assertions (2 terms)
CV Term
Evidence
References
inferred from biological aspect of ancestor with PANTHER:PTN008493809
inferred from sequence or structural similarity with SGD:S000003293
Cellular Component (1 term)
Terms Based on Experimental Evidence (0 terms)
Terms Based on Predictions or Assertions (1 term)
CV Term
Evidence
References
is_active_in cytoplasm
inferred from biological aspect of ancestor with PANTHER:PTN008493809
located_in cytoplasm
inferred from sequence or structural similarity with SGD:S000003293
Protein Family (UniProt)
-
Catalytic Activity (EC/Rhea)
phosphoribosylformylglycinamidine synthase activity
N(2)-formyl-N(1)-(5-phospho-beta-D-ribosyl)glycinamide + L-glutamine + ATP + H2O = 2-formamido-N(1)-(5-O-phospho-beta-D-ribosyl)acetamidine + L-glutamate + ADP + phosphate + H(+) (6.3.5.3)
RHEA 17129:
Summaries
Gene Snapshot
Phosphoribosylformylglycinamidine synthase (Pfas) encodes a phosphoribosylformylglycinamidine synthase, which is an essential enzyme in the pathway for de novo synthesis of the purine nucleotide inosine monophosphate (IMP). IMP is the precursor for purine nucleotides required for nucleic acids, energy transfer, cell signaling, and coenzymes. [Date last reviewed: 2019-03-14]
Gene Group (FlyBase)
CARBON-NITROGEN LIGASES, WITH GLUTAMINE AS AMIDO-N-DONOR -
Carbon-nitrogen ligases, with glutamine as amido-n-donor, catalyze the transfer of the amide nitrogen of glutamine to a variety of substrates.
Protein Function (UniProtKB)
Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway (PubMed:3086869). Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (PubMed:3086869). Because of its role in metabolisms, is involved in sleep regulation (PubMed:3086869).
(UniProt, P35421)
Phenotypic Description (Red Book; Lindsley and Zimm 1992)
ade2 (S. Henikoff and D. Nash)
Purine nucleoside auxotroph supplementable with adenine, adenosine, and inosine. Eye color reddish-brown similar to rosy. Lacks detectable levels of the fourth purine de novo synthetic-pathway enzyme, formylglycineamide ribotide amidotransferase (FGARAT; EC 6.33.5.3). Homozygotes and heteroallelic combinations of many alleles have defective wings; the defects include reduced wing size, deranged posterior wing margins, and extra wing veins. Macrochaetae are somewhat thinner than normal and reduced in length. ade25, ade26, and ade27 are sterile, perhaps owing to general debility, when homozygous or in heteroallelic combination with one another. Only ade27 was not tested owing to a linked lethal. Most homozygotes and heteroallelic heterozygotes display reduced viability, with the appearance of pharate adults unable to eclose.
Gene Model and Products
Number of Transcripts
3
Number of Unique Polypeptides
1

Please see the JBrowse view of Dmel\Pfas for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)
Isoform displayed:
Pfam protein domains
InterPro name
classification
start
end
Protein Domains (via SMART)
Isoform displayed:
SMART protein domains
InterPro name
classification
start
end
Structure
Protein 3D structure   (Predicted by AlphaFold)   (AlphaFold entry P35421)

If you don't see a structure in the viewer, refresh your browser.
Model Confidence:
  • Very high (pLDDT > 90)
  • Confident (90 > pLDDT > 70)
  • Low (70 > pLDDT > 50)
  • Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures
Crossreferences
Comments on Gene Model

Gene model reviewed during 5.55

Gene model reviewed during 5.51

Gene model reviewed during 5.56

Transcript Data
Annotated Transcripts
Name
FlyBase ID
RefSeq ID
Length (nt)
Assoc. CDS (aa)
FBtr0079219
4281
1354
FBtr0079220
4337
1354
FBtr0079221
4277
1354
Additional Transcript Data and Comments
Reported size (kB)

4.8 (northern blot)

Comments
External Data
Crossreferences
Polypeptide Data
Annotated Polypeptides
Name
FlyBase ID
Predicted MW (kDa)
Length (aa)
Theoretical pI
UniProt
RefSeq ID
GenBank
FBpp0078850
148.1
1354
5.39
FBpp0078851
148.1
1354
5.39
FBpp0078852
148.1
1354
5.39
Polypeptides with Identical Sequences

The group(s) of polypeptides indicated below share identical sequence to each other.

1354 aa isoforms: Pfas-PA, Pfas-PB, Pfas-PC
Additional Polypeptide Data and Comments
Reported size (kDa)
Comments
External Data
Linkouts
Sequences Consistent with the Gene Model
Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\Pfas using the Feature Mapper tool.

External Data
Crossreferences
Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
Linkouts
Expression Data
Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-0.53

Transcript Expression
Polypeptide Expression
mass spectroscopy
Stage
Tissue/Position (including subcellular localization)
Reference
Additional Descriptive Data
Marker for
 
Subcellular Localization
CV Term
Evidence
References
Expression Deduced from Reporters
High-Throughput Expression Data
Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\Pfas in JBrowse
RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region
Reference
See Gelbart and Emmert, 2013 for analysis details and data files for all genes.
Developmental Proteome: Life Cycle
Developmental Proteome: Embryogenesis
External Data and Images
Linkouts
BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
Flygut - An atlas of the Drosophila adult midgut
Images
FlyExpress - Embryonic expression images (BDGP data)
  • Stages(s) 9-10
  • Stages(s) 11-12
  • Stages(s) 13-16
Alleles, Insertions, Transgenic Constructs, and Aberrations
Classical and Insertion Alleles ( 19 )
For All Classical and Insertion Alleles Show
 
Other relevant insertions
Transgenic Constructs ( 6 )
For All Alleles Carried on Transgenic Constructs Show
Transgenic constructs containing/affecting coding region of Pfas
Transgenic constructs containing regulatory region of Pfas
Aberrations (Deficiencies and Duplications) ( 4 )
Variants
Variant Molecular Consequences
Alleles Representing Disease-Implicated Variants
Phenotypes
For more details about a specific phenotype click on the relevant allele symbol.
Lethality
Allele
Sterility
Allele
Other Phenotypes
Allele
Phenotype manifest in
Allele
Orthologs
Human Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Homo sapiens (Human) (1)
14 of 14
Yes
Yes
Model Organism Orthologs (via DIOPT v9.1)
Species\Gene Symbol
Score
Best Score
Best Reverse Score
Alignment
Complementation?
Transgene?
Rattus norvegicus (Norway rat) (1)
13 of 14
Yes
Yes
Mus musculus (laboratory mouse) (1)
13 of 14
Yes
Yes
Xenopus tropicalis (Western clawed frog) (1)
11 of 13
Yes
Yes
Danio rerio (Zebrafish) (1)
13 of 14
Yes
Yes
Caenorhabditis elegans (Nematode, roundworm) (1)
14 of 14
Yes
Yes
Anopheles gambiae (African malaria mosquito) (1)
12 of 12
Yes
Yes
Arabidopsis thaliana (thale-cress) (1)
13 of 13
Yes
Yes
Saccharomyces cerevisiae (Brewer's yeast) (1)
12 of 13
Yes
Yes
Schizosaccharomyces pombe (Fission yeast) (1)
11 of 12
Yes
Yes
Escherichia coli (enterobacterium) (1)
9 of 11
Yes
Yes
Other Organism Orthologs (via OrthoDB)
Data provided directly from OrthoDB:Pfas. Refer to their site for version information.
Paralogs
Paralogs (via DIOPT v9.1)
Human Disease Associations
FlyBase Human Disease Model Reports
    Disease Ontology (DO) Annotations
    Models Based on Experimental Evidence ( 0 )
    Allele
    Disease
    Evidence
    References
    Potential Models Based on Orthology ( 0 )
    Human Ortholog
    Disease
    Evidence
    References
    Modifiers Based on Experimental Evidence ( 0 )
    Allele
    Disease
    Interaction
    References
    Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)
    Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.
    Homo sapiens (Human)
    Gene name
    Score
    OMIM
    OMIM Phenotype
    DO term
    Complementation?
    Transgene?
    Functional Complementation Data
    Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.
    Interactions
    Summary of Physical Interactions
    esyN Network Diagram
    Other Interaction Browsers
    Summary of Genetic Interactions
    esyN Network Diagram
    Show/hide secondary interactors 
    (data from AllianceMine provided by esyN)
    esyN Network Key:
    Suppression
    Enhancement
    Other Interaction Browsers

    Please look at the allele data for full details of the genetic interactions
    Starting gene(s)
    Interaction type
    Interacting gene(s)
    Reference
    Starting gene(s)
    Interaction type
    Interacting gene(s)
    Reference
    External Data
    Linkouts
    BioGRID - A database of protein and genetic interactions.
    DroID - A comprehensive database of gene and protein interactions.
    Pathways
    Signaling Pathways (FlyBase)
    Metabolic Pathways
    FlyBase
    External Links
    KEGG Metabolic Pathways - A collection of manually drawn metabolic pathway maps representing knowledge of molecular interaction, reaction and relation networks.
    Reactome Metabolic Pathways - An open-source, open access, manually curated and peer-reviewed metabolic pathway database.
    External Data
    Linkouts
    KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.
    Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
    Class of Gene
    Genomic Location and Detailed Mapping Data
    Chromosome (arm)
    2L
    Recombination map
    2-18
    Cytogenetic map
    Sequence location
    FlyBase Computed Cytological Location
    Cytogenetic map
    Evidence for location
    26B3-26B3
    Limits computationally determined from genome sequence between P{EP}chicEP713&P{EP}chicEP1095 and P{lacW}Gef26k13720
    Experimentally Determined Cytological Location
    Cytogenetic map
    Notes
    References
    26B1-26B2
    (determined by in situ hybridisation)
    Experimentally Determined Recombination Data
    Location
    Left of (cM)
    Right of (cM)
    Notes

    Mapping based on 73 cl-wg recombinants.

    Stocks and Reagents
    Stocks (16)
    Genomic Clones (15)
     

    Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

    cDNA Clones (71)
     

    Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

    cDNA clones, fully sequenced
    BDGP DGC clones
    Other clones
      Drosophila Genomics Resource Center cDNA clones

      For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

      cDNA Clones, End Sequenced (ESTs)
      RNAi and Array Information
      Linkouts
      DRSC - Results frm RNAi screens
      Antibody Information
      Laboratory Generated Antibodies
       
      Commercially Available Antibodies
       
      Cell Line Information
      Publicly Available Cell Lines
       
        Other Stable Cell Lines
         
          Other Comments

          ade2 locus is sequenced and characterised.

          ade2 has been cloned and its primary product may be a formylglycineamide ribotide amidotransferase (FGARAT: EC 6.33.5.3).

          Structural gene for phosphoribosylformylglycinamidine synthase, an enzyme in the pathway of purine biosynthesis.

          Purine nucleoside auxotroph supplementable with adenine, adenosine and inosine. Eye color reddish-brown similar to rosy. Lacks detectable levels of the fourth purine de novo synthetic-pathway enzyme, formylglycineamide ribotide amidotransferase (FGARAT: EC 6.33.5.3). Homozygotes and heteroallelic combinations of many alleles have defective wings; the defects include reduced wing size, deranged posterior wing margins and extra wing veins. Macrochaetae are somewhat thinner than normal and reduced in length. ade25, ade26 and ade27 are sterile, perhaps owing to general debility, when homozygous or in heteroallelic combination with one another. Only ade27 was not tested owing to a linked lethal. Most homozygotes and heteroallelic heterozygotes display reduced viability, with the appearance of pharate adults unable to eclose.

          Relationship to Other Genes
          Source for database merge of
          Additional comments
          Nomenclature History
          Source for database identify of

          Source for identity of: Pfas ade2

          Nomenclature comments

          Renamed from 'ade2' to 'Pfas' (in FB2018_01) to provide more informative nomenclature, consistent with the clear vertebrate ortholog (and replace existing nomenclature suggesting incorrect relationships to yeast orthologs).

          Etymology
          Synonyms and Secondary IDs (11)
          Datasets (0)
          Study focus (0)
          Experimental Role
          Project
          Project Type
          Title
          Study result (0)
          Result
          Result Type
          Title
          External Crossreferences and Linkouts ( 59 )
          Sequence Crossreferences
          NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
          GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.
          GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.
          RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.
          UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.
          UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information
          Other crossreferences
          AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.
          BDGP expression data - Patterns of gene expression in Drosophila embryogenesis
          DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species
          EMBL-EBI Single Cell Expression Atlas - Single cell expression across species
          FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data
          FlyMine - An integrated database for Drosophila genomics
          KEGG Genes - Molecular building blocks of life in the genomic space.
          MARRVEL_MODEL - MARRVEL (model organism gene)
          Linkouts
          BioGRID - A database of protein and genetic interactions.
          Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones
          DroID - A comprehensive database of gene and protein interactions.
          DRSC - Results frm RNAi screens
          Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.
          FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array
          FlyCyc Genes - Genes from a BioCyc PGDB for Dmel
          Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns
          Flygut - An atlas of the Drosophila adult midgut
          FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.
          iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)
          KEGG Metabolic Pathways - A collection of manually drawn metabolic pathway maps representing knowledge of molecular interaction, reaction and relation networks.
          KEGG Pathways - A collection of manually drawn pathway maps representing knowledge of molecular interaction, reaction and relation networks.
          Reactome - An open-source, open access, manually curated and peer-reviewed pathway database.
          Reactome Metabolic Pathways - An open-source, open access, manually curated and peer-reviewed metabolic pathway database.
          References (80)