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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
Location & Maps
more
  • Sequence Map
    Chr11:68985697-69008460 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22764 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 42.26 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PFAS, phosphoribosylformylglycinamidine synthase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PFAS, phosphoribosylformylglycinamidine synthase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FGAMS, FGARAT, FGAR-AT, GATD8, PURL
  • Links
    NCBI Gene ID: 5198
    neXtProt AC: NX_O15067
    UniProt: O15067

  • Chr Location
    17p13.1; chr17:8249255-8270491 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 6 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    2 images
    17 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005962 VEGA Gene Model | MGI Sequence Detail 22764 C57BL/6J ±  kb
    transcript OTTMUST00000013311 VEGA | MGI Sequence Detail 6373 Not Applicable  
    polypeptide OTTMUSP00000006164 VEGA | MGI Sequence Detail 1337 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      146 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012571 phosphoribosylformylglycinamidine synthase
    • EC
    • InterPro Domains
      IPR029062 Class I glutamine amidotransferase-like
      IPR017926 Glutamine amidotransferase
      IPR010073 Phosphoribosylformylglycinamidine synthase
      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
    Molecular
    Reagents
    less
    • All nucleic 50
      cDNA 50

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3717450
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 17
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2016 Jul 15;415(2):216-27

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory