Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pfasprovided by MGI
Official Full Name: phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)provided by MGI
Primary source: MGI:MGI:2684864
See related: Ensembl:ENSMUSG00000020899 AllianceGenome:MGI:2684864
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm18; PURL; Sofa; FGAMS; FGARAT; FGAR-AT; 4432409B16Rik
Summary: Predicted to enable phosphoribosylformylglycinamidine synthase activity. Acts upstream of or within anterior head development. Predicted to be located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; integumental system; and liver. Orthologous to human PFAS (phosphoribosylformylglycinamidine synthase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 10.9), ovary adult (RPKM 10.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 42.26 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (68876527..68899286, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (68985701..69008460, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Transgenic (1)
Gene trapped (1)
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ligase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide 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	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' AMP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in 'de novo' IMP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in 'de novo' XMP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in GMP biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within anterior head development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phosphoribosylformylglycinamidine synthase

Names: FGAM synthase; FGAR amidotransferase; formylglycinamide ribonucleotide amidotransferase; formylglycinamide ribotide amidotransferase; formylglycinamide ribotide synthetase

NP_001152991.1

EC 6.3.5.3

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)

NM_001159519.1 → NP_001152991.1 phosphoribosylformylglycinamidine synthase

See identical proteins and their annotated locations for NP_001152991.1

Status: VALIDATED

Source sequence(s)

AL645902, AL714000

Consensus CDS

CCDS48823.1

UniProtKB/Swiss-Prot

A4FUJ6, Q5SUR0, Q6A080

Related

ENSMUSP00000021282.6, ENSMUST00000021282.12

Conserved Domains (4) 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:706 → 980

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, ...

TIGR01735
Location:7 → 1332

FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form

pfam13507
Location:1062 → 1331

GATase_5; CobB/CobQ-like glutamine amidotransferase domain