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Aprt
Gene Detail
Symbol

Name
ID
Aprt
adenine phosphoribosyl transferase
MGI:88061
Feature Type
protein coding gene
Genetic Map
Chromosome 8
71.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(37)
Sequence Map
Chr8:122574637-122576907 bp, - strand
From NCBI annotation of GRCm38

  2271 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:413  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: APRT
Gene Tree: Aprt

Human
homologs
APRT, adenine phosphoribosyltransferase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 353
neXtProt AC: NX_P07741

Human Synonyms: AMP, APRTD

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

Disease Associations: (1) Diseases Associated with Human APRT

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(7) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Aprt (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Aprt interacts with 22 markers (Mir31, Mir141, Mir200a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process adenine metabolic process, adenine salvage, ...
Component cytoplasm, extracellular exosome, ...
Function adenine binding, adenine phosphoribosyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (126)    Tissues (100)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 124
RT-PCR 2
cDNA source data(163)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aprt    NEW 
Molecular
reagents
All nucleic(185) Genomic(14) cDNA(164) Primer pair(3) Other(4)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000006589 (Evidence)
Entrez Gene 11821 (Evidence)
UniGene 1786
DFCI TC1572965, TC1720596
DoTS DT.101370164, DT.102551876, DT.103600358, DT.110857264, DT.536302
NIA Mouse Gene Index U030359
EC 2.4.2.7
Consensus CDS Project CCDS40503.1
International Mouse Phenotyping Consortium Status Aprt
Sequences
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 sequences
All sequences(31) RefSeq(2) UniProt(1)
Polymorphisms
All PCR and RFLP(8) : PCR(1) RFLP(7) SNPs within 2kb(66 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005764 Adenine phosphoribosyl transferase
InterPro IPR000836 Phosphoribosyltransferase domain
Protein Ontology PR:000004175 adenine phosphoribosyltransferase
Graphical View of Protein Domain Structure
References
(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:185800 Rani V, et al., Prdx1 deficiency in mice promotes tissue specific loss of heterozygosity mediated by deficiency in DNA repair and increased oxidative stress. Mutat Res. 2012 Jul 1;735(1-2):39-45
All references(98)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1380, MGI:2142869

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
08/18/2015
MGI 6.0
The Jackson Laboratory