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    PFAS phosphoribosylformylglycinamidine synthase [ Homo sapiens (human) ]

    Gene ID: 5198, updated on 10-Dec-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
    mouse all
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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

      UniProtKB/TrEMBL
      B4DJ26

    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, A8K9T9

    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

      UniProtKB/TrEMBL
      B4DJ26
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15067.4 GenPept UniProtKB/Swiss-Prot:O15067

    Gene LinkOut

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