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Aliases for PFAS Gene

Aliases for PFAS Gene

  • Phosphoribosylformylglycinamidine Synthase 2 3 5
  • 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 58
  • FGAR-AT 3 4
  • FGAMS 3 4
  • Formylglycinamide Ribotide Synthetase 3
  • KIAA0361 4
  • FGARAT 3
  • GATD8 3
  • PURL 3

External Ids for PFAS Gene

Previous GeneCards Identifiers for PFAS Gene

  • GC17U990074
  • GC17P009241
  • GC17P008099
  • GC17P008353
  • GC17P008093
  • GC17P008048
  • GC17P008152

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 Alcohol-Related Neurodevelopmental Disorder and Partial Fetal Alcohol Syndrome. Among its related pathways are Metabolism and Purine 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).

Additional gene information for PFAS Gene

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

Genomics for PFAS Gene

Regulatory Elements for PFAS Gene

Enhancers for PFAS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H007833 1.9 FANTOM5 ENCODE dbSUPER 107.4 -407.9 -407889 12 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC DVL2 PFAS CTC1 WRAP53 POLR2A CNTROB SNORD10 ENSG00000265749 NLGN2 KDM6B
GH17H008137 1.7 Ensembl ENCODE dbSUPER 96.3 -108.2 -108168 3 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC SSRP1 ZNF610 DVL2 PFAS ENSG00000265749 CNTROB SENP3 NEURL4 CTC1 SNORD10 POLR2A WRAP53
GH17H007474 1.8 FANTOM5 ENCODE dbSUPER 75.7 -767.0 -767029 12 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 SSRP1 DVL2 PFAS SNORD10 POLR2A SNORA48 CTC1 KCTD11 NEURL4 CHRNB1 CNTROB
GH17H008185 1.4 ENCODE dbSUPER 93.8 -59.2 -59235 5 MLX ZFP64 YY1 ZNF143 SP3 ZC3H11A NFYC ZFP41 SSRP1 GLIS1 DVL2 PFAS CNTROB WRAP53 ENSG00000265749 POLR2A NEURL4 SENP3 CTC1 LOC100996842
GH17H008093 1 ENCODE 124.1 -153.6 -153581 0 ZNF493 ZFP64 ZNF2 ZNF121 ZNF302 ZNF143 KLF7 ZNF202 SP3 ZC3H11A DVL2 PFAS CTC1 CNTROB WRAP53 POLR2A SNORD10 RPL26 ENSG00000265749 SNORA48
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PFAS on UCSC Golden Path with GeneCards custom track

Promoters for PFAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090978 782 3201 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

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

Genomic Location for PFAS Gene

Chromosome:
17
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

Genes around PFAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFAS Gene

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

Selected DME Specific Peptides for PFAS Gene

O15067:
  • EMAFAGN
  • HDVSDGG
  • SEHSRHWFF
  • GKDSLSM
  • ASNGASDYGNKFGEP
  • YPLNPNGSP
  • MPHPERA
  • SGNWMWAAK

Post-translational modifications for PFAS Gene

  • Ubiquitination at posLast=279279, Lys422, Lys451, Lys494, posLast=507507, Lys639, posLast=646646, Lys683, posLast=843843, Lys900, and posLast=10511051
  • Modification sites at PhosphoSitePlus

Domains & Families for PFAS Gene

Gene Families for PFAS Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O15067

UniProtKB/Swiss-Prot:

PUR4_HUMAN :
  • In the N-terminal section; belongs to the FGAMS family.
Family:
  • In the N-terminal section; belongs to the FGAMS family.
genes like me logo Genes that share domains with PFAS: view

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

Phenotypes From GWAS Catalog for PFAS Gene

Gene Ontology (GO) - Molecular Function for PFAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004642 phosphoribosylformylglycinamidine synthase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
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

Animal Model Products

  • Taconic Biosciences Mouse Models for PFAS

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PFAS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFAS Gene

Localization for PFAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFAS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFAS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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 & Interactions for PFAS Gene

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

Pathways by source for PFAS Gene

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:0006164 purine nucleotide biosynthetic process IEA --
GO:0006189 de novo IMP biosynthetic process NAS 10548741
GO:0006541 glutamine metabolic process IEA --
GO:0009156 ribonucleoside monophosphate biosynthetic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with PFAS: view

No data available for SIGNOR curated interactions for PFAS Gene

Drugs & Compounds for PFAS Gene

(5) Drugs for PFAS Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 236
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(6) Additional Compounds for PFAS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5'-Phosphoribosyl-N-formylglycinamide
  • 5'-P-Ribosyl-N-formylglycineamide
  • 5'-Phosphoribosyl-formylglycinamide
  • 5'-Phosphoribosyl-N-formylglycinamide
  • 5'-Phosphoribosyl-N-formylglycineamide
  • 5-Phosphoribosyl-N-formalglycineamide
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphoribosylformylglycineamidine
  • 5'-Phosphoribosyl-N-formyl glycineamidine
  • 5'-Phosphoribosylformylglycinamidine
  • 5-Phosphoribosyl-N-formylglycineamidine
  • FGAM
  • N-(2-Amino-2-iminoethyl)-N-(5-O-phosphono-b-D-ribofuranosyl)-Formamide
37721-04-3
genes like me logo Genes that share compounds with PFAS: view

Transcripts for PFAS Gene

Unigene Clusters for PFAS Gene

Phosphoribosylformylglycinamidine synthase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PFAS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PFAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PFAS Gene

This gene is overexpressed in Lymph node (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PFAS Gene



Protein tissue co-expression partners for PFAS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFAS Gene:

PFAS

SOURCE GeneReport for Unigene cluster for PFAS Gene:

Hs.573976

Evidence on tissue expression from TISSUES for PFAS Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with PFAS: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFAS Gene

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 33 34
  • 99.03 (n)
cow
(Bos Taurus)
Mammalia PFAS 33 34
  • 87.77 (n)
dog
(Canis familiaris)
Mammalia PFAS 33 34
  • 87.29 (n)
rat
(Rattus norvegicus)
Mammalia Pfas 33
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Pfas 33 16 34
  • 84.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PFAS 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pfas 33
  • 65.11 (n)
zebrafish
(Danio rerio)
Actinopterygii pfas 33 34
  • 62.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002091 33
  • 57.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta ade2 33 34
  • 55.11 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F10F2.2 33
  • 50.08 (n)
F10F2.2 34
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE6 34 36
  • 33 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PUR4 33
  • 53.11 (n)
rice
(Oryza sativa)
Liliopsida Os01g0888500 33
  • 54.65 (n)
Os.26952 33
barley
(Hordeum vulgare)
Liliopsida Hv.11704 33
wheat
(Triticum aestivum)
Liliopsida Ta.6639 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2383 33
Species where no ortholog for PFAS was found in the sources mined by GeneCards:
  • 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
rs372313776 Likely benign 8,248,097(+) GGGGT(-/G)GGGGG upstream-variant-2KB
rs201280372 Uncertain significance 8,248,024(+) GGCCC(A/C/G/T)GCCAG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs201782976 Uncertain significance 8,248,046(+) CGCCG(A/C/G)AGCTC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs757066174 Uncertain significance 8,248,004(+) CTCAC(A/G)GAGGA nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs886053610 Uncertain significance 8,248,095(-) CCCAC(C/G)CCCAT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3639880 CNV loss 21293372
nsv833353 CNV loss 17160897

Variation tolerance for PFAS Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.14; 95.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFAS Gene

Human Gene Mutation Database (HGMD)
PFAS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFAS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFAS Gene

Disorders for PFAS Gene

MalaCards: The human disease database

(5) MalaCards diseases for PFAS Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
alcohol-related neurodevelopmental disorder
  • arnd
partial fetal alcohol syndrome
fetal alcohol spectrum disorder
  • fetal alcohol syndrome
toxic megacolon
  • megacolon, toxic
fetal alcohol syndrome
  • alcohol-related neurodevelopmental disorder
- elite association - COSMIC cancer census association via MalaCards
Search PFAS in MalaCards View complete list of genes associated with diseases

Relevant External Links for PFAS

Genetic Association Database (GAD)
PFAS
Human Genome Epidemiology (HuGE) Navigator
PFAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFAS
genes like me logo Genes that share disorders with PFAS: view

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

Publications for PFAS Gene

  1. Human phosphoribosylformylglycineamide 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 22 60
  2. Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase. (PMID: 8110788) Barnes TS … Patterson D (Biochemistry 1994) 2 3 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  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 research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4 60

Products for PFAS Gene

Sources for PFAS Gene

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