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Aliases for PFAS Gene

Aliases for PFAS Gene

  • Phosphoribosylformylglycinamidine Synthase 2 3
  • FGAR Amidotransferase 2 3 4
  • Formylglycinamide Ribonucleotide Amidotransferase 3 4
  • Formylglycinamide Ribotide Amidotransferase 3 4
  • FGAM Synthase 3 4
  • EC 6.3.5.3 4 64
  • FGAR-AT 3 4
  • FGARAT 3 6
  • FGAMS 3 4
  • Formylglycinamide Ribotide Synthetase 3
  • KIAA0361 4
  • PURL 3

External Ids for PFAS Gene

Summaries for PFAS Gene

Entrez Gene Summary for PFAS Gene

  • 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]

GeneCards Summary for PFAS Gene

PFAS (Phosphoribosylformylglycinamidine Synthase) is a Protein Coding gene. Diseases associated with PFAS include partial fetal alcohol syndrome and fetal alcohol syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phosphoribosylformylglycinamidine synthase activity.

UniProtKB/Swiss-Prot for PFAS Gene

  • Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFAS Gene

Genomics for PFAS Gene

Genomic Location for PFAS Gene

Start:
8,247,618 bp from pter
End:
8,270,491 bp from pter
Size:
22,874 bases
Orientation:
Plus strand

Genomic View for PFAS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PFAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFAS Gene

Regulatory Elements for PFAS Gene

Transcription factor binding sites by QIAGEN in the PFAS gene promoter:

Proteins for PFAS Gene

  • Protein details for PFAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15067-PUR4_HUMAN
    Recommended name:
    Phosphoribosylformylglycinamidine synthase
    Protein Accession:
    O15067
    Secondary Accessions:
    • A6H8V8

    Protein attributes for PFAS Gene

    Size:
    1338 amino acids
    Molecular mass:
    144734 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20816.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for PFAS Gene

Proteomics data for PFAS Gene at MOPED

Selected DME Specific Peptides for PFAS Gene

Post-translational modifications for PFAS Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys279, Lys422, Lys451, Lys494, Lys507, Lys639, Lys646, Lys683, Lys843, Lys900, and Lys1051

Other Protein References for PFAS Gene

Domains for PFAS Gene

UniProtKB/Swiss-Prot:

PUR4_HUMAN
Domain:
  • Contains 1 glutamine amidotransferase type-1 domain.:
    • O15067
Family:
  • In the N-terminal section; belongs to the FGAMS family.:
    • O15067
genes like me logo Genes that share domains with PFAS: view

No data available for Gene Families for PFAS Gene

Function for PFAS Gene

Molecular function for PFAS Gene

GENATLAS Biochemistry: formylglycineamide ribonucleotide amidotransferase,150kDa,FGAM synthetase,catalyzing the fourth step of the de novo purine biosynthesis,leading to formyl glycinamidine ribonucleotide (FGAM)
UniProtKB/Swiss-Prot CatalyticActivity: 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
UniProtKB/Swiss-Prot Function: Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity).

Enzyme Numbers (IUBMB) for PFAS Gene

Gene Ontology (GO) - Molecular Function for PFAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004642 phosphoribosylformylglycinamidine synthase activity IDA 10548741
GO:0005524 ATP binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PFAS: view
genes like me logo Genes that share phenotypes with PFAS: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PFAS Gene

Localization for PFAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFAS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFAS Gene COMPARTMENTS Subcellular localization image for PFAS gene
Compartment Confidence
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PFAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PFAS: view

Pathways for PFAS Gene

genes like me logo Genes that share pathways with PFAS: view

UniProtKB/Swiss-Prot O15067-PUR4_HUMAN

  • 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

Gene Ontology (GO) - Biological Process for PFAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IBA --
GO:0006189 de novo IMP biosynthetic process NAS 10548741
GO:0006541 glutamine metabolic process IBA --
GO:0009156 ribonucleoside monophosphate biosynthetic process IBA --
genes like me logo Genes that share ontologies with PFAS: view

Compounds for PFAS Gene

(3) HMDB Compounds for PFAS Gene

Compound Synonyms Cas Number PubMed IDs
5'-Phosphoribosyl-N-formylglycinamide
  • 5'-P-ribosyl-N-formylglycineamide
Not Available
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9
Phosphoribosylformylglycineamidine
  • 5'-phosphoribosyl-N-formyl glycineamidine
37721-04-3

(2) Drugbank Compounds for PFAS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate

(3) Novoseek inferred chemical compound relationships for PFAS Gene

Compound -log(P) Hits PubMed IDs
inosine monophosphate 70.1 1
purine 66.8 3
guanylate 51.9 1
genes like me logo Genes that share compounds with PFAS: view

Transcripts for PFAS Gene

Unigene Clusters for PFAS Gene

Phosphoribosylformylglycinamidine synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PFAS Gene

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: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13: - - - -
SP14:
SP15:
SP16: -
SP17: -
SP18:

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:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 29a · 29b ^ 30
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for PFAS Gene

GeneLoc Exon Structure for
PFAS
ECgene alternative splicing isoforms for
PFAS

Expression for PFAS Gene

mRNA expression in normal human tissues for PFAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PFAS Gene

SOURCE GeneReport for Unigene cluster for PFAS Gene Hs.573976

genes like me logo Genes that share expressions with PFAS: view

Orthologs for PFAS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFAS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFAS 36
  • 99.03 (n)
  • 99.03 (a)
PFAS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PFAS 36
  • 87.77 (n)
  • 89.01 (a)
PFAS 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFAS 36
  • 87.29 (n)
  • 89.46 (a)
PFAS 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfas 36
  • 84.82 (n)
  • 88.56 (a)
Pfas 16
Pfas 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFAS 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 69 (a)
OneToMany
-- 37
  • 65 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pfas 36
  • 85.13 (n)
  • 89.63 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 68 (a)
OneToMany
-- 37
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pfas 36
  • 65.11 (n)
  • 67.89 (a)
zebrafish
(Danio rerio)
Actinopterygii pfas 36
  • 62.64 (n)
  • 64.64 (a)
pfas 37
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002091 36
  • 57.22 (n)
  • 51.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta ade2 36
  • 55.11 (n)
  • 51.1 (a)
ade2 37
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F10F2.2 36
  • 50.08 (n)
  • 49.38 (a)
F10F2.2 37
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE6 37
  • 33 (a)
OneToOne
ADE6 39
thale cress
(Arabidopsis thaliana)
eudicotyledons PUR4 36
  • 53.11 (n)
  • 51.61 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.11704 36
rice
(Oryza sativa)
Liliopsida Os.26952 36
Os01g0888500 36
  • 54.65 (n)
  • 53.55 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6639 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2383 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToOne
Species with no ortholog for PFAS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PFAS Gene

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

Paralogs for PFAS Gene

No data available for Paralogs for PFAS Gene

Variants for PFAS Gene

Sequence variations from dbSNP and Humsavar for PFAS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1132554 -- 8,270,449(+) TAGCC(C/T)CTCCC utr-variant-3-prime
rs1132556 -- 8,270,078(+) tcacc(A/G)tgtct utr-variant-3-prime
rs4791636 -- 8,251,797(+) CTCCC(A/G)AGTAG intron-variant
rs4791641 - 8,257,831(+) GGATC(C/T)AAGCT reference, missense
rs4792687 -- 8,257,284(+) GGGCG(C/T)GGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PFAS Gene

Variant ID Type Subtype PubMed ID
nsv833353 CNV Loss 17160897
nsv907661 CNV Gain 21882294

Relevant External Links for PFAS Gene

HapMap Linkage Disequilibrium report
PFAS
Human Gene Mutation Database (HGMD)
PFAS

Disorders for PFAS Gene

Relevant External Links for PFAS

Genetic Association Database (GAD)
PFAS
Human Genome Epidemiology (HuGE) Navigator
PFAS
genes like me logo Genes that share disorders with PFAS: view

No data available for UniProtKB/Swiss-Prot for PFAS Gene

Publications for PFAS Gene

  1. Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase. (PMID: 8110788) Barnes T.S. … Patterson D. (Biochemistry 1994) 2 3 23
  2. Human phosphoribosylformylglycinamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis. (PMID: 10548741) Patterson D. … Bowersox J. (Gene 1999) 3 4 23
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. 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. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4

Products for PFAS Gene

Sources for PFAS Gene

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