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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
    gene 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
    18
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 MGP_129S1SvImJ_G0018512
 protein coding gene Chr11:69381717-69404695 (-)
A/J MGP_AJ_G0018481
 protein coding gene Chr11:66775389-66798613 (-)
AKR/J MGP_AKRJ_G0018450
 protein coding gene Chr11:68772311-68795131 (-)
BALB/cJ MGP_BALBcJ_G0018452
 protein coding gene Chr11:67096067-67118836 (-)
C3H/HeJ MGP_C3HHeJ_G0018265
 protein coding gene Chr11:68793040-68815784 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018904
 protein coding gene Chr11:71489707-71514349 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016548
 protein coding gene Chr11:63713614-63737823 (-)
CAST/EiJ MGP_CASTEiJ_G0017821
 protein coding gene Chr11:69028586-69052808 (-)
CBA/J MGP_CBAJ_G0018239
 protein coding gene Chr11:74680261-74708951 (-)
DBA/2J MGP_DBA2J_G0018348
 protein coding gene Chr11:66373607-66399520 (-)
FVB/NJ MGP_FVBNJ_G0018338
 protein coding gene Chr11:65992487-66015910 (-)
LP/J MGP_LPJ_G0018419
 protein coding gene Chr11:69966807-69989951 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018361
 protein coding gene Chr11:75334557-75360551 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018945
 protein coding gene Chr11:69021305-69045314 (-)
PWK/PhJ MGP_PWKPhJ_G0017596
 protein coding gene Chr11:67003560-67030809 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017384
 protein coding gene Chr11:68853355-68877832 (-)
WSB/EiJ MGP_WSBEiJ_G0017874
 protein coding gene Chr11:68662232-68686265 (-)



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
    neXtProt AC: NX_O15067
    UniProt: O15067

  • Chr Location
    17p13.1; chr17:8247608-8270491 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 8 alleles in 8 genetic backgrounds
    2 images
    22 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
    21
  • GO References
    9
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
    853
  • 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
      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 4 sites, 4 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 51
      cDNA 51

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3717450
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 22
    • 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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    11/19/2024
    MGI 6.24     		The Jackson Laboratory