Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PFAS Gene

protein-coding   GIFtS: 61
GCID: GC17P008152

phosphoribosylformylglycinamidine synthase

 Explore 11 diseases affiliated with
PFAS via our new
 Human Malady Compendium 
Biological research products
for PFAS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Phosphoribosylformylglycinamidine Synthase1 2     Formylglycinamide Ribotide Synthetase2 3
FGARAT1 2 3 5     FGAMS2 3
PURL1 2     FGAM Synthase2 3
KIAA03611 3     EC 6.3.5.33 8
Formylglycinamide Ribotide Amidotransferase2 3     FGAR Amidotransferase2

External Ids:    HGNC: 88631   Entrez Gene: 51982   Ensembl: ENSG000001789217   OMIM: 6021335   UniProtKB: O150673   

Export aliases for PFAS gene to outside databases

Previous GC identifers: GC17U990074 GC17P009241 GC17P008099 GC17P008353 GC17P008093 GC17P008048


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PFAS:
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PFAS gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFAS promoter sequence
   Search SABiosciences Chromatin IP Primers for PFAS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFAS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

PFAS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFAS gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P008152:  view genomic region     (about GC identifiers)

Start:
8,150,936 bp from pter      End:
8,173,809 bp from pter
Size:
22,874 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067 (See protein sequence)
Recommended Name: Phosphoribosylformylglycinamidine synthase  
Size: 1338 amino acids; 144734 Da
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=BAA20816.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6H8V8

Explore the universe of human proteins at neXtProt for PFAS: NX_O15067

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15067

  • 4/8 DME Specific Peptides for PFAS (O15067) (see all 8)
     EMAFAGN  HDVSDGG  MPHPERA  GKDSLSM 

    PFAS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036525.1  
    ENSEMBL proteins: 
     ENSP00000463362   ENSP00000464689   ENSP00000464671   ENSP00000313490   ENSP00000463045  
     ENSP00000462874   ENSP00000463103   ENSP00000443244   ENSP00000441706  
    Reactome Protein details: O15067
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PFAS
    OriGene Protein Over-expression Lysate: PFAS
    OriGene Custom Protein Services for PFAS 
    GenScript Custom Purified and Recombinant Proteins Services for PFAS
    Novus Biologicals PFAS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PFAS

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005829cytosol TAS--


    PFAS for ontologies           About GeneDecksing



    PFAS Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PFAS 
    GenScript Custom Superior Antibodies Services for PFAS
    Novus Biologicals PFAS Antibodies
    Search for Antibodies for PFAS at Abcam  
    Uscn Antibodies for PFAS
    ThermoFisher Antibody for PFAS

    Assay Products for PFAS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PFAS
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for PFAS


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PFAS for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016188 PurM_N-like
     IPR000728 AIR_synth_N_dom
     IPR010073 PRibForGlyAmidine_synth
     IPR010918 AIR_synth_C_dom
     IPR017926 GATASE_1

    Graphical View of Domain Structure for InterPro Entry O15067

    ProtoNet protein and cluster: O15067

    2 Blocks protein families:
    IPB000728 AIR synthase related protein
    IPB010918 AIR synthase related protein


    UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067
    Similarity: In the N-terminal section; belongs to the FGAMS family
    Similarity: Contains 1 glutamine amidotransferase type-1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067
    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

         Genatlas biochemistry entry for PFAS:
    formylglycineamide ribonucleotide amidotransferase,150kDa,FGAM synthetase,catalyzing the fourth step of the de novo
    purine biosynthesis,leading to formyl glycinamidine ribonucleotide (FGAM)

    Enzyme Number (IUBMB): EC 6.3.5.31 2

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: PFAS
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFAS
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PFAS:
    hsa-miR-146a* hsa-miR-133a hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidPFAS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFAS (see all 4)
    OriGene shRNA RFP: PFAS
    OriGene siRNA: PFAS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFAS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PFAS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PFAS (NM_012393)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFAS 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PFAS
    Search LifeMap BioReagents cell lines for PFAS

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFAS

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004642phosphoribosylformylglycinamidine synthase activity IDA10548741
    GO:0005524ATP binding IEA--


    PFAS for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pfas):
     craniofacial  skeleton  vision/eye 

    PFAS for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1purine nucleotides de novo biosynthesis II
    purine nucleotides de novo biosynthesis II1.00
    5-aminoimidazole ribonucleotide biosynthesis I0.30
    Purine ribonucleoside monophosphate biosynthesis0.91
    2Purine metabolism
    Purine metabolism1.00
    Metabolism of nucleotides0.42
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Purine metabolism
    Purine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for PFAS 
        purine nucleotides de novo biosynthesis II
    5-aminoimidazole ribonucleotide biosynthesis I

    4        Reactome Pathways for PFAS
        Metabolism of nucleotides
    Metabolism
    Purine ribonucleoside monophosphate biosynthesis
    Purine metabolism


    2         Kegg Pathways  (Kegg details for PFAS):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067
    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


    PFAS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PFAS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/81 Interacting proteins for PFAS (O150671, 3 ENSP000003134904) via UniProtKB, MINT, STRING, and/or I2D (see all 81)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF10DQ9UBN61, 3, ENSP000003102634EBI-1052653,EBI-1044859 I2D: score=2 STRING: ENSP00000310263
    HLA-BP304801, 3EBI-1052653,EBI-1054175 I2D: score=1 I2D: score=1 
    EPB41P111711, 3EBI-1052653,EBI-1050906 I2D: score=2 
    MCCP235081, 3EBI-1052653,EBI-307531 I2D: score=2 
    TRAF6Q9Y4K31, 3EBI-1052653,EBI-359276 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006189'de novo' IMP biosynthetic process NAS10548741
    GO:0006541glutamine metabolic process IEA--
    GO:0009168purine ribonucleoside monophosphate biosynthetic process TAS--
    GO:0042493response to drug IEA--


    PFAS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PFAS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PFAS

    3 HMDB Compounds for PFAS    About this table
    CompoundSynonyms CAS #PubMed Ids
    5'-Phosphoribosyl-N-formylglycinamide5'-P-ribosyl-N-formylglycineamide (see all 8)----
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    Phosphoribosylformylglycineamidine5'-phosphoribosyl-N-formyl glycineamidine (see all 6)37721-04-3--

    2 DrugBank Compounds for PFAS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 17016423 3345200 2347042
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423 2347042

    3 Novoseek chemical compound relationships for PFAS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inosine monophosphate 70.1 6 15566465 (1)
    purine 66.8 4 9328467 (1), 10548741 (1), 15566465 (1)
    guanylate 51.9 1 2347042 (1)

    Search CenterWatch for drugs/clinical trials and news about PFAS / PUR4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PFAS gene: 
    NM_012393.2  

    Unigene Cluster for PFAS:

    Phosphoribosylformylglycinamidine synthase
    Hs.573976  [show with all ESTs]
    Unigene Representative Sequence: NM_012393
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585183 ENST00000584044 ENST00000580356 ENST00000314666(uc002gkr.3 uc010vuv.2 uc002gks.3)
    ENST00000581242 ENST00000585319 ENST00000583059 ENST00000581288 ENST00000578979
    ENST00000546020 ENST00000580251 ENST00000545834(uc010cnw.1)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: PFAS
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFAS
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate PFAS:
    hsa-miR-146a* hsa-miR-133a hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidPFAS 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFAS (see all 4)
    OriGene shRNA RFP: PFAS
    OriGene siRNA: PFAS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFAS
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PFAS (NM_012393)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFAS 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFAS
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PFAS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFAS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFAS

    Additional cDNA sequence: 

    AB002359.1 AK292402.1 AK292804.1 AK295895.1 AY545554.1 BC006522.2 BC009318.2 BC063538.1 
    BC146768.1 BC167158.1 

    9 DOTS entries:

    DT.210405  DT.100778167  DT.102828379  DT.100744649  DT.100778165  DT.101981676  DT.121005380  DT.121005387 
    DT.100663545 

    24/97 AceView cDNA sequences (see all 97):

    BQ186094 CB991938 BC063538 CB128507 BG818824 CB123130 AI064852 AA593024 
    BQ427996 AI624181 AA393540 BQ216997 NM_012393 AL044325 CB991935 BQ065341 
    BM476397 BM834506 BQ216455 CB997531 BX452354 BX456770 BE271660 BP430750 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for PFAS (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
    SP1:                                                                                                                          -                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                      -                                                                     

    ExUns: 18b · 18c · 18d ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                  -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 29a · 29b ^ 30
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PFAS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PFAS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGAGGCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PFAS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PFAS

    SOURCE GeneReport for Unigene cluster: Hs.573976
        SABiosciences Custom PCR Arrays for PFAS
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFAS
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PFAS
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFAS
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFAS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFAS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for PFAS gene from 9/37 species (see all 37)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfas1 , 5 phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)1, 5 84.82(n)1
    88.56(a)1
      11 (42.26 cM)5
    2378231  NM_001159519.11  NP_001152991.11 
     689856975 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    68(a)
    62(a)
    1 ↔ 1
    possible ortholog
    GL343466.1(207082-233142)
    GL345100.1(10-11638)
    zebrafish
    (Danio rerio)
    Actinopterygii pfas1 phosphoribosylformylglycinamidine synthase 62.44(n)
    64.34(a)
      570437  NM_001045202.1  NP_001038667.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ade21 adenosine 2 55.34(n)
    51.14(a)
      33847  NM_164676.1  NP_723147.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F10F2.21 Protein F10F2.2 50.84(n)
    50.44(a)
      175608  NM_065541.4  NP_497942.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE6(YGR061C)4
    ADE61
    Formylglycinamidine-ribonucleotide (FGAM)-synthetase, more4
    Ade6p1
    44.4(n)1
    37.72(a)1
      7(615965-611889)4
    8529521, 4  NP_011575.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PUR41 phosphoribosylformylglycinamidine synthase 53.01(n)
    51.61(a)
      843766  NM_106086.4  NP_177566.3 
    rice
    (Oryza sativa)
    Liliopsida Os.269522 Oryza sativa (japonica cultivar-group) cDNA clone0 more 77.97(n)    NM_190202.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria purL6
    phosphoribosylformyl-glycineamide synthetase
    36(a)
    1 ↔ 1
    Chromosome(2689678-2693565)


    ENSEMBL Gene Tree for PFAS (if available)
    TreeFam Gene Tree for PFAS (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/507 NCBI SNPs in PFAS are shown (see all 507    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs732449021,2
    C,--8046616(+) TTTACT/GTATTA 2 -- int12Minor allele frequency- G:0.07WA 120
    rs99005201,2
    C,--8046799(+) CGCAGA/CACCAG 2 -- int12Minor allele frequency- C:0.15CSA WA 120
    rs99003521,2
    C,A,--8047059(+) gggGGC/TGCTCG 2 -- us2k10--------
    rs782860571,2
    --8047682(+) CCCGGC/ATAATT 2 -- us2k13Minor allele frequency- A:0.13CSA WA NA 239
    rs576553481,2
    C,--8047766(+) CTGCCG/CGCCTC 2 -- us2k11Minor allele frequency- C:0.50WA 2
    rs782084851,2
    F,--8048342(+) TCCAGG/CTGCAG 2 -- us2k11Minor allele frequency- C:0.03EA 120
    rs768819161,2
    F,--8048643(+) AGCTTA/TTATTT 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1146233131,2
    C,F,--8048831(+) ATTCAA/GTGGAA 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1873411101,2
    --8150712(+) AGCCTC/TCGTCT 3 -- us2k1 int10--------
    rs124518001,2
    C,F,H,--8150723(+) ACCCGG/ATTCAA 3 -- us2k1 int18Minor allele frequency- A:0.09NS EA NA WA 784

    HapMap Linkage Disequilibrium report for PFAS (8150936 - 8173809 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PFAS: --
    Human Gene Mutation Database (HGMD): PFAS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PFAS
    DNA2.0 Custom Variant and Variant Library Synthesis for PFAS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PFAS for disorders           About GeneDecksing

    OMIM gene information: 602133    OMIM disorders: --

    11 diseases for PFAS:    About MalaCards
    alcohol-related neurodevelopmental disorder    partial fetal alcohol syndrome    fetal alcohol syndrome    toxic megacolon
    food allergy    megacolon    alcoholism    down syndrome
    pneumonia    tuberculosis    mycobacterium tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for PFAS:
    alcohol-related neurodevelopmental disorder     Fetal alcohol syndrome     Partial fetal alcohol syndrome     Toxic megacolon
    Human Genome Epidemiology (HuGE) Navigator: PFAS (1 document)

    Export disorders for PFAS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PFAS gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with PFAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human phosphoribosylformylglycinamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis. (PubMed id 10548741)1, 2, 9 Patterson D.... Bowersox J. (1999)
    2. Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase. (PubMed id 8110788)1, 3, 9 Barnes T.S....Patterson D. (1994)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    5. The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. (PubMed id 9328467)1, 9 Brodsky G....Patterson D. (1997)
    6. Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride. (PubMed id 2347042)7, 9 Jayaram H.N....Weber G. (1990)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5198 HGNC: 8863 AceView: PFAS Ensembl:ENSG00000178921 euGenes: HUgn5198
    ECgene: PFAS Kegg: 5198 H-InvDB: PFAS

    (According to HUGE)
    About This Section
    HUGE: KIAA0361

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PFAS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PFAS gene:
    Search GeneIP for patents involving PFAS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for PFAS  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFAS   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFAS  
     OriGene Protein Over-expression Lysate for PFAS   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PFAS   OriGene 3'-UTR Clone for PFAS  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFAS  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for PFAS   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PFAS   OriGene Custom Protein Services for PFAS  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PFAS
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PFAS
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFAS
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFAS
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFAS
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFAS
     GenScript Custom Purified and Recombinant Proteins Services for PFAS GenScript cDNA clones with any tag delivered in your preferred vector for PFAS
     GenScript Custom Assay Services for PFAS GenScript Custom Superior Antibodies Services for PFAS
     GenScript Custom overexpressing Cell Line Services for PFAS CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PFAS promoter
     Search Chromatin IP Primers for PFAS
     RT2 qPCR Primer Assay in human, mouse, rat PFAS
     Search GNC Networks for PFAS
     SABiosciences Custom PCR Arrays for PFAS
     Search Tocris compounds for PFAS
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PFAS antibodies
     PFAS lysates
     Search for Antibodies for PFAS at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PFAS
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     PFAS Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for PFAS
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFAS
     SwitchGear 3'UTR luciferase reporter plasmids for PFAS
     SwitchGear Promoter luciferase reporter plasmids for PFAS
     ThermoFisher Antibody for PFAS
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFAS
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PFAS gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4