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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0034231
 protein coding gene Chr8:126127335-126129602 (-)
A/J MGP_AJ_G0034211
 protein coding gene Chr8:120902670-120904941 (-)
AKR/J MGP_AKRJ_G0034138
 protein coding gene Chr8:124425383-124427654 (-)
BALB/cJ MGP_BALBcJ_G0034205
 protein coding gene Chr8:121103320-121105591 (-)
C3H/HeJ MGP_C3HHeJ_G0033916
 protein coding gene Chr8:125125674-125127945 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034725
 protein coding gene Chr8:130340343-130342613 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031667
 protein coding gene Chr8:113737353-113739546 (-)
CAST/EiJ MGP_CASTEiJ_G0033243
 protein coding gene Chr8:125209980-125212249 (-)
CBA/J MGP_CBAJ_G0033889
 protein coding gene Chr8:135122034-135124304 (-)
DBA/2J MGP_DBA2J_G0034045
 protein coding gene Chr8:120091866-120094136 (-)
FVB/NJ MGP_FVBNJ_G0033988
 protein coding gene Chr8:119238101-119240371 (-)
LP/J MGP_LPJ_G0034134
 protein coding gene Chr8:126250191-126252458 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034035
 protein coding gene Chr8:137290407-137292677 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034743
 protein coding gene Chr8:124609044-124611197 (-)
PWK/PhJ MGP_PWKPhJ_G0032945
 protein coding gene Chr8:119916235-119918494 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032785
 protein coding gene Chr8:123339772-123342046 (-)
WSB/EiJ MGP_WSBEiJ_G0033359
 protein coding gene Chr8:125364540-125366808 (-)



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
    neXtProt AC: NX_P07741
    UniProt: P07741

  • Chr Location
    16q24.3; chr16:88809339-88811937 (-)  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
    30 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
    35
  • GO References
    19
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
    846
  • 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 114
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 19
      Phenotypes 30
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory