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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
Location & Maps
more
  • Sequence Map
    Chr8:122574637-122576907 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2271 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: HomoloGene
  • Synonyms
    AMP, APRTD
  • Links
    NCBI Gene ID: 353
    neXtProt AC: NX_P07741

  • Chr Location
    16q24; chr16:88809469-88811934 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 413
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • 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
       Adenine Phosphoribosyltransferase Deficiency; APRTD   OMIM: 614723 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
    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.
  • All Mutations and Alleles
    11
  • Gene trapped
    7
  • Targeted
    4
  • Incidental Mutations
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
receptor
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 11821 NCBI Gene Model | MGI Sequence Detail 2271 C57BL/6J ±  kb
transcript NM_009698 RefSeq | MGI Sequence Detail 866 C57BL/6  
polypeptide P08030 UniProt | EBI | MGI Sequence Detail 180 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    66 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004175 adenine phosphoribosyltransferase
  • EC
  • InterPro Domains
    IPR005764 Adenine phosphoribosyl transferase
    IPR000836 Phosphoribosyltransferase domain
    IPR029057 Phosphoribosyltransferase-like
Molecular
Reagents
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  • All nucleic 185
    Genomic 14
    cDNA 164
    Primer pair 3
    Other 4

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-1380, MGI:2142869
References
more
  • Summaries
    All 96
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 15
    Phenotypes 22
  • Earliest
    J:5817 Kozak C, et al., Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome. Somatic Cell Genet. 1975 Oct;1(4):371-82
  • Latest
    J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory