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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
    genome feature page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:123301376-123303646 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 71.91 cM
  • Mapping Data
    37 experiments
Strain
Comparison
more
  • SNPs within 2kb
    196 from dbSNP Build 142
  • Strain Annotations
    27
  • PCR
    1
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88061
 protein coding gene Chr8:123301374-123303648 (-)
129S1/SvImJ ENSMUSGG00200054613
 protein coding gene Chr8:117634055-117634996 (-)
129S1/SvImJ ENSMUSG00200041771
 protein coding gene Chr8:117632574-117633472 (-)
A/J ENSMUSG00195024211
 protein coding gene Chr8:117923069-117923969 (-)
A/J ENSMUSGG00195055138
 protein coding gene Chr8:117924553-117925495 (-)
AKR/J ENSMUSG00220040399
 protein coding gene Chr8:118114227-118115127 (-)
AKR/J ENSMUSGG00220054569
 protein coding gene Chr8:118115711-118116653 (-)
BALB/cJ ENSMUSG00180027178
 protein coding gene Chr8:117969116-117970016 (-)
BALB/cJ ENSMUSGG00180055258
 protein coding gene Chr8:117970600-117971542 (-)
C3H/HeJ ENSMUSG00175027612
 protein coding gene Chr8:118025983-118026883 (-)
C3H/HeJ ENSMUSGG00175055138
 protein coding gene Chr8:118027467-118028409 (-)
C57BL/6NJ ENSMUSG00215016572
 protein coding gene Chr8:117607355-117608255 (-)
C57BL/6NJ ENSMUSGG00215055401
 protein coding gene Chr8:117608839-117609780 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031667
 protein coding gene Chr8:113737353-113739546 (-)
CAST/EiJ no annotation
CBA/J ENSMUSG00210030966
 protein coding gene Chr8:117959823-117960723 (-)
CBA/J ENSMUSGG00210054736
 protein coding gene Chr8:117961307-117962248 (-)
DBA/2J ENSMUSGG00185057564
 protein coding gene Chr8:124066227-124067168 (-)
DBA/2J ENSMUSG00185032960
 protein coding gene Chr8:124064743-124065643 (-)
FVB/NJ ENSMUSG00205034126
 protein coding gene Chr8:116925995-116926895 (-)
FVB/NJ ENSMUSGG00205054089
 protein coding gene Chr8:116927479-116928420 (-)
JF1/MsJ no annotation
LP/J ENSMUSGG00230055503
 protein coding gene Chr8:127685499-127686423 (-)
LP/J ENSMUSG00230029870
 protein coding gene Chr8:127684018-127684916 (-)
NOD/ShiLtJ ENSMUSG00190017413
 protein coding gene Chr8:118060320-118061220 (-)
NOD/ShiLtJ ENSMUSGG00190054524
 protein coding gene Chr8:118061804-118062745 (-)
NZO/HlLtJ ENSMUSG00225041426
 protein coding gene Chr8:131065239-131066139 (-)
NZO/HlLtJ ENSMUSG00225028133
 protein coding gene Chr5:53140914-53141759 (-)
NZO/HlLtJ ENSMUSGG00225055339
 protein coding gene Chr8:131066723-131067664 (-)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    APRT, adenine phosphoribosyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    APRT, adenine phosphoribosyltransferase
  • Synonyms
    AMP, APRTD
  • Links
    NCBI Gene ID: 353
    UniProt: P07741

  • Chr Location
    16q24.3; chr16:88809339-88811963 (-)  GRCh38
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
less
  • Phenotype Summary
    47 phenotypes from 4 alleles in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    1 images
    33 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.
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
less
  • All GO Annotations
    44
  • GO References
    24
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
    737
  • Tissues
    107
  • cDNA Data
    165
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11821 NCBI Gene Model | MGI Sequence Detail 2271 C57BL/6J ±  kb
    transcript NM_009698 RefSeq | MGI Sequence Detail 866 ZRU/MplStud  
    polypeptide P08030 UniProt | EBI | MGI Sequence Detail 180 Not Applicable  
    For the selected sequence
    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 124
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 24
      Phenotypes 33
    • 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: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