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Pfas Gene Detail
Summary
  • Symbol
    Pfas
  • Name
    phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)
  • Synonyms
    4432409B16Rik, Sofa
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684864
    NCBI Gene: 237823
  • Alliance
    genome feature page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:68876527-68899286 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 42.26 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    540 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684864
 protein coding gene Chr11:68876523-68899286 (-)
129S1/SvImJ ENSMUSG00200042793
 protein coding gene Chr11:65821767-65839944 (-)
A/J ENSMUSG00195035818
 protein coding gene Chr11:65840353-65858530 (-)
AKR/J ENSMUSG00220054112
 protein coding gene Chr11:65957284-65975433 (-)
BALB/cJ ENSMUSG00180053211
 protein coding gene Chr11:65919173-65937351 (-)
C3H/HeJ ENSMUSG00175054386
 protein coding gene Chr11:65869483-65887661 (-)
C57BL/6NJ ENSMUSG00215053350
 protein coding gene Chr11:65645302-65663479 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016548
 protein coding gene Chr11:63713614-63737823 (-)
CAST/EiJ ENSTCUG00005053589
 protein coding gene Chr11:65397134-65415310 (-)
CBA/J ENSMUSG00210054235
 protein coding gene Chr11:65723562-65741738 (-)
DBA/2J ENSMUSG00185054398
 protein coding gene Chr11:65922982-65941134 (-)
FVB/NJ ENSMUSG00205031641
 protein coding gene Chr11:65814175-65832351 (-)
JF1/MsJ ENSUMUG00000049936
 protein coding gene Chr11:66321076-66339228 (-)
LP/J ENSMUSG00230053086
 protein coding gene Chr11:67032167-67050344 (-)
NOD/ShiLtJ ENSMUSG00190054008
 protein coding gene Chr11:65951833-65970009 (-)
NZO/HlLtJ ENSMUSG00225046326
 protein coding gene Chr11:69205644-69223791 (-)
PWK/PhJ ENSLUMG00010053225
 protein coding gene Chr11:65831397-65849558 (-)
SPRET/EiJ ENSMSPG00010039950
 protein coding gene Chr11:66567894-66586329 (-)
WSB/EiJ ENSIUOG00005038416
 protein coding gene Chr11:65851866-65870040 (-)



Homology
more
  • Human Ortholog
    PFAS, phosphoribosylformylglycinamidine synthase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PFAS, phosphoribosylformylglycinamidine synthase
  • Synonyms
    FGAMS, FGAR-AT, FGARAT, GATD8, PURL
  • Links
    NCBI Gene ID: 5198
    UniProt: O15067

  • Chr Location
    17p13.1; chr17:8247608-8270491 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 8 alleles in 8 genetic backgrounds
    2 images
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice heterozygous for spontaneous or ENU-induced mutations exhibit craniofacial abnormalities, most notably a domed cranium and short snout, variable white belly spots and white tail tips, and a range of eye defects including microphthalmia and anophthalmia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    744
  • Tissues
    98
  • cDNA Data
    51
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 237823 NCBI Gene Model | MGI Sequence Detail 22760 C57BL/6J ±  kb
    transcript NM_001159519 RefSeq | MGI Sequence Detail 6369 C57BL/6  
    polypeptide Q5SUR0 UniProt | EBI | MGI Sequence Detail 1337 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012571 phosphoribosylformylglycinamidine synthase
      (term hierarchy)
    • EC
      6.3.5.3
    • InterPro Domains
      IPR029062 Class I glutamine amidotransferase-like
      IPR055181 FGAR-AT, PurM N-terminal-like domain
      IPR041609 Phosphoribosylformylglycinamidine synthase, linker domain
      IPR040707 Phosphoribosylformylglycinamidine synthase, N-terminal
      IPR010073 Phosphoribosylformylglycinamidine synthase PurL
      IPR036604 Phosphoribosylformylglycinamidine synthase subunit PurS-like superfamily
      IPR010918 PurM-like, C-terminal domain
      IPR036676 PurM-like, C-terminal domain superfamily
      IPR036921 PurM-like, N-terminal domain superfamily
    • GlyGen
      Q5SUR0 6 sites, 4 N-linked glycans (3 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 51

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3717450
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 3
      Gene Ontology 11
      Phenotypes 24
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory