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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 63
  • FGAR-AT 3 4
  • FGAMS 3 4
  • Formylglycinamide Ribotide Synthetase 3
  • KIAA0361 4
  • FGARAT 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).

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

Regulatory Elements for PFAS Gene

Promoters for PFAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PFAS on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PFAS Gene at MOPED

Selected DME Specific Peptides for PFAS Gene

Post-translational modifications for PFAS Gene

  • Ubiquitination at Lys 279, Lys 422, Lys 451, Lys 494, Lys 507, Lys 639, Lys 646, Lys 683, Lys 843, Lys 900, and Lys 1051
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PFAS Gene

Graphical View of Domain Structure for InterPro Entry

O15067

UniProtKB/Swiss-Prot:

PUR4_HUMAN :
  • Contains 1 glutamine amidotransferase type-1 domain.
  • In the N-terminal section; belongs to the FGAMS family.
Domain:
  • Contains 1 glutamine amidotransferase type-1 domain.
Family:
  • In the N-terminal section; belongs to the FGAMS family.
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

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PFAS Gene COMPARTMENTS Subcellular localization image for PFAS gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
mitochondrion 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PFAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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:0006144 purine nucleobase metabolic process TAS --
GO:0006164 purine nucleotide biosynthetic process IBA --
GO:0006541 glutamine metabolic process IEA,IBA --
GO:0009156 ribonucleoside monophosphate biosynthetic process IEA,IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Adenosine triphosphate Approved Nutra 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(8) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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

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, MOPED, and MaxQB for PFAS Gene



SOURCE GeneReport for Unigene cluster for PFAS Gene Hs.573976

genes like me logo Genes that share expression patterns with PFAS: view

Protein tissue co-expression partners for PFAS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PFAS 35
  • 87.77 (n)
  • 89.01 (a)
PFAS 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFAS 35
  • 87.29 (n)
  • 89.46 (a)
PFAS 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfas 35
  • 84.82 (n)
  • 88.56 (a)
Pfas 16
Pfas 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFAS 35
  • 99.03 (n)
  • 99.03 (a)
PFAS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfas 35
  • 85.13 (n)
  • 89.63 (a)
oppossum
(Monodelphis domestica)
Mammalia PFAS 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pfas 35
  • 65.11 (n)
  • 67.89 (a)
zebrafish
(Danio rerio)
Actinopterygii pfas 35
  • 62.64 (n)
  • 64.64 (a)
pfas 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002091 35
  • 57.22 (n)
  • 51.86 (a)
fruit fly
(Drosophila melanogaster)
Insecta ade2 35
  • 55.11 (n)
  • 51.1 (a)
ade2 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F10F2.2 35
  • 50.08 (n)
  • 49.38 (a)
F10F2.2 36
  • 47 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE6 36
  • 33 (a)
OneToOne
ADE6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PUR4 35
  • 53.11 (n)
  • 51.61 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.11704 35
rice
(Oryza sativa)
Liliopsida Os.26952 35
Os01g0888500 35
  • 54.65 (n)
  • 53.55 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6639 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2383 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
rs9891699 - 8,253,992(+) CAGCC(C/T)CTGGA nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs4791641 - 8,257,831(+) GGATC(C/T)AAGCT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs35217368 - 8,263,140(-) CCCCA(A/T)AGTCC nc-transcript-variant, reference, missense
rs11078738 - 8,264,282(+) ACCCC(C/T)GCCAA nc-transcript-variant, reference, missense
rs1132554 -- 8,270,449(+) TAGCC(C/T)CTCCC utr-variant-3-prime

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

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

HapMap Linkage Disequilibrium report
PFAS
Human Gene Mutation Database (HGMD)
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: 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 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 67
  2. 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
  3. Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride. (PMID: 2347042) Jayaram H.N. … Weber G. (Cancer Chemother. Pharmacol. 1990) 23 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for PFAS Gene

Sources for PFAS Gene

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