Free for academic non-profit institutions. Other users need a Commercial license

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 56
  • 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for PFAS Gene

Promoters and enhancers for PFAS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I008245 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 599.9 +0.3 313 5.5 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 PFAS CTC1 NEURL4 SENP3 CYB5D1 RANGRF CNTROB WRAP53 ZBTB4 NLGN2
GH17I007833 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 118.4 -407.9 -407889 12.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 KDM6B DVL2 PFAS CTC1 WRAP53 CNTROB POLR2A SNORD10 SNORA48 PER1
GH17I008185 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 102 -59.3 -59284 5.9 CLOCK MLX ZFP64 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC BORCS6 ENSG00000279152 GC17M008515 GC17M008516 PIR38375 PIR38980 PIR40201 PIR49700 MIR4521 TRI-AAT5-5
GH17I007474 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 84.1 -767.0 -767029 12.5 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC POLR2A ZBTB4 SLC35G6 DVL2 PFAS SNORD10 CTC1 WRAP53 SNORA48 CNTROB
GH17I008172 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 81.1 -72.7 -72651 5.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF416 LOC105371520 GC17M008511 SNORD118 TMEM107 DVL2 CTC1 CNTROB POLR2A WRAP53 SNORD10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PFAS on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PFAS Gene

Genomic Locations for PFAS Gene
chr17:8,247,618-8,270,491
(GRCh38/hg38)
Size:
22,874 bases
Orientation:
Plus strand
chr17:8,150,936-8,173,809
(GRCh37/hg19)

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 Lys279, isoforms=422, Lys451, Lys494, isoforms=507, Lys639, Lys646, isoforms=683, Lys843, isoforms=900, and isoforms=1051
  • Modification sites at PhosphoSitePlus

Domains & Families for PFAS Gene

Gene Families for PFAS Gene

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

Clone Products

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,HDA 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 251
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

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

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:

Clone Products

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

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 Variation AA Info Type
rs201280372 uncertain-significance, not specified, Dyskeratosis Congenita, Recessive 8,248,024(+) G/A/C/T upstream_transcript_variant
rs201782976 uncertain-significance, Dyskeratosis Congenita, Recessive 8,248,046(+) G/A/C upstream_transcript_variant
rs372313776 likely-benign, Dyskeratosis Congenita, Recessive 8,248,098(+) GGGGGGG/GGGGGGGG