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Aprt Gene Detail
Summary
  • Symbol
    Aprt
  • Name
    adenine phosphoribosyl transferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:88061
    NCBI Gene: 11821
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:122574635-122576909 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2275 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 71.91 cM
  • Mapping Data
    37 experiments
Homology
more
  • Human Ortholog
    APRT, adenine phosphoribosyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    APRT, adenine phosphoribosyltransferase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AMP, APRTD
  • Links
    NCBI Gene ID: 353
    neXtProt AC: NX_P07741
    UniProt: P07741

  • Chr Location
    16q24.3; chr16:88809469-88811934 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 413
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: APRT
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Aprt mouse models; 1 with human APRT associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 3 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    1 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Most homozygous null mutants may die by 6 months of age with highly abnormal kidney morphology and kidney tubule obstructions depending on the genetic background. Mice have elevated urinary 2,8-hydroxyadenine and crystalline deposits in kidney. Severity varies by genetic background.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000061857 VEGA Gene Model | MGI Sequence Detail 2275 C57BL/6J ±  kb
    transcript OTTMUST00000150938 VEGA | MGI Sequence Detail 849 Not Applicable  
    polypeptide OTTMUSP00000078282 VEGA | MGI Sequence Detail 180 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      66 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 187
      Genomic 14
      cDNA 166
      Primer pair 3
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1380, MGI:2142869
    References
    more
    • Summaries
      All 107
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 16
      Phenotypes 24
    • Earliest
      J:5409 Tischfield JA, et al., Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization. Proc Natl Acad Sci U S A. 1974 Jan;71(1):45-9
    • Latest
      J:248071 Turker MS, et al., Simulated space radiation-induced mutants in the mouse kidney display widespread genomic change. PLoS One. 2017;12(7):e0180412

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory