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PFAS phosphoribosylformylglycinamidine synthase [ Homo sapiens (human) ]

Gene ID: 5198, updated on 7-Aug-2022

Summary

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

See PFAS in Genome Data Viewer
Location:
17p13.1
Exon count:
30
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8247608..8270486)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8155517..8176708)
105.20220307 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 solute carrier family 25 member 35 Neighboring gene RAN guanine nucleotide release factor Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene CRISPRi-validated cis-regulatory element chr17.641

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoribosylformylglycinamidine synthase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 

General protein information

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

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_012393.3NP_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, Q6P4B4
    Related
    ENSP00000313490.6, ENST00000314666.11
    Conserved Domains (1) summary
    TIGR01735
    Location:71333
    FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_024450804.2XP_024306572.1  phosphoribosylformylglycinamidine synthase isoform X1

    UniProtKB/Swiss-Prot
    A6H8V8
    Conserved Domains (1) summary
    TIGR01735
    Location:71333
    FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form
  2. XM_047436297.1XP_047292253.1  phosphoribosylformylglycinamidine synthase isoform X4

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

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

    Conserved Domains (3) summary
    cd02203
    Location:218608
    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:707943
    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:174943
    PurL1; Phosphoribosylformylglycinamidine (FGAM) synthase, synthetase domain [Nucleotide transport and metabolism]
  5. XM_047436298.1XP_047292254.1  phosphoribosylformylglycinamidine synthase isoform X5

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8155517..8176708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)