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PFAS phosphoribosylformylglycinamidine synthase [ Homo sapiens (human) ]

Gene ID: 5198, updated on 27-Nov-2024

Summary

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Official Symbol
PFASprovided by HGNC
Official Full Name
phosphoribosylformylglycinamidine synthaseprovided by HGNC
Primary source
HGNC:HGNC:8863
See related
Ensembl:ENSG00000178921 MIM:602133; AllianceGenome:HGNC:8863
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PURL; FGAMS; GATD8; FGARAT; FGAR-AT
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 4.9), appendix (RPKM 4.3) and 25 other tissues See more
Orthologs
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Genomic context

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See PFAS in Genome Data Viewer
Location:
17p13.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8247608..8270486)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8153834..8176708)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8152607..8173804)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Ser (anticodon AGA) 2-6 Neighboring gene tRNA-Ile (anticodon AAT) 4-1 Neighboring gene CST telomere replication complex component 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8152035-8152791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8187618-8188118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8188119-8188619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11694 Neighboring gene solute carrier family 25 member 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11696 Neighboring gene RAN guanine nucleotide release factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11697 Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene CRISPRi-validated cis-regulatory element chr17.641

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase. Barnes TS, et al. Biochemistry, 1994 Feb 22. PMID 8110788
  2. Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS. Lu A, et al. Biochem Biophys Res Commun, 2019 Jun 4. PMID 30987822
  3. Human phosphoribosylformylglycineamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis. Patterson D, et al. Gene, 1999 Nov 1. PMID 10548741
  4. ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis. Ali ES, et al. Mol Cell, 2020 Jun 18. PMID 32485148, Free PMC Article
  5. NSUN2-mediated m(5) C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression. Zuo S, et al. Clin Transl Med, 2023 May. PMID 37228185, Free PMC Article

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NSUN2-mediated m[5] C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression.
    Title: NSUN2-mediated m(5) C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression.
  2. ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis.
    Title: ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis.
  3. A total of 429 proteins are newly identified to interact with PFAS. PFAS interacts with CAD, CCT2, PRDX1, and PHGDH.
    Title: Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS.
  4. Study observed FGAMS as distinct puncta throughout neuronal processes, where it co-localized with neurofilament heavy chain, tubulin, and mitochondria. Data provide insight into potential purine biosynthetic mechanisms utilized within neurons during homeostasis as well as viral infection.
    Title: Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase in neurons.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif interacts with PFAS; interaction predicted to be relevant to purine pyrimidine biosynthesis PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0361

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphoribosylformylglycinamidine synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphoribosylformylglycinamidine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphoribosylformylglycinamidine synthase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' IMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in 'de novo' IMP biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in 'de novo' XMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in GMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in anterior head development IEA
Inferred from Electronic Annotation
more info
  
involved_in glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in purine nucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
phosphoribosylformylglycinamidine synthase
Names
FGAM synthase
FGAR amidotransferase
IKZF1/PFAS fusion
formylglycinamide ribonucleotide amidotransferase
formylglycinamide ribotide amidotransferase
formylglycinamide ribotide synthetase
phosphoribosylformylglycineamide amidotransferase
NP_036525.1
XP_006721609.1
XP_024306572.1
XP_047292251.1
XP_047292252.1
XP_047292253.1
XP_047292254.1
XP_054172475.1
XP_054172476.1
XP_054172477.1
XP_054172478.1
XP_054172479.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012393.3 → NP_036525.1  phosphoribosylformylglycinamidine synthase

    See identical proteins and their annotated locations for NP_036525.1

    Status: REVIEWED

    Source sequence(s)
    AK292804, BC063538
    Consensus CDS
    CCDS11136.1
    UniProtKB/Swiss-Prot
    A6H8V8, O15067
    UniProtKB/TrEMBL
    A8K9T9
    Related
    ENSP00000313490.6, ENST00000314666.11
    Conserved Domains (1) summary
    TIGR01735
    Location:7 → 1333
    FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8247608..8270486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450804.2 → XP_024306572.1  phosphoribosylformylglycinamidine synthase isoform X1

    UniProtKB/Swiss-Prot
    A6H8V8, O15067
    UniProtKB/TrEMBL
    A8K9T9
    Conserved Domains (1) summary
    TIGR01735
    Location:7 → 1333
    FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form

  2. XM_047436297.1 → XP_047292253.1  phosphoribosylformylglycinamidine synthase isoform X4

  3. XM_047436296.1 → XP_047292252.1  phosphoribosylformylglycinamidine synthase isoform X3

  4. XM_006721546.4 → XP_006721609.1  phosphoribosylformylglycinamidine synthase isoform X4

    Conserved Domains (3) summary
    cd02203
    Location:218 → 608
    PurL_repeat1; PurL subunit of the formylglycinamide ribonucleotide amidotransferase (FGAR-AT), first repeat. FGAR-AT catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to formylglycinamidine ribonucleotide (FGAM), ADP, ...
    cd02204
    Location:707 → 943
    PurL_repeat2; PurL subunit of the formylglycinamide ribonucleotide amidotransferase (FGAR-AT), second repeat. FGAR-AT catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to formylglycinamidine ribonucleotide (FGAM), ADP, ...
    COG0046
    Location:174 → 943
    PurL1; Phosphoribosylformylglycinamidine (FGAM) synthase, synthetase domain [Nucleotide transport and metabolism]

  5. XM_047436298.1 → XP_047292254.1  phosphoribosylformylglycinamidine synthase isoform X5

  6. XM_047436295.1 → XP_047292251.1  phosphoribosylformylglycinamidine synthase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8153834..8176708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316500.1 → XP_054172475.1  phosphoribosylformylglycinamidine synthase isoform X1

    UniProtKB/TrEMBL
    A8K8N7

  2. XM_054316502.1 → XP_054172477.1  phosphoribosylformylglycinamidine synthase isoform X4

  3. XM_054316503.1 → XP_054172478.1  phosphoribosylformylglycinamidine synthase isoform X4

  4. XM_054316504.1 → XP_054172479.1  phosphoribosylformylglycinamidine synthase isoform X5

  5. XM_054316501.1 → XP_054172476.1  phosphoribosylformylglycinamidine synthase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15067.4 GenPept UniProtKB/Swiss-Prot:O15067

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