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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; dog, domestic; hamster, Chinese    (Mammalian Orthology)
Comparative Map (Mouse/Human Aprt ± 2 cM)

Gene Tree: Aprt

Human ortholog

APRT adenine phosphoribosyltransferase NCBI Gene ID 353
Human Synonyms: AMP, APRTD
Human Chr16:88875877-88878342 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human APRT (1)

Alleles and phenotypes

All alleles(11) : Targeted(4) Gene trapped(7)
 

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 Using Mouse Aprt (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	adenine metabolic process, adenine salvage, ...
Component	cytoplasm
Function	adenine binding, adenine phosphoribosyltransferase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (126)    Tissues (100)    Images (32)
Theiler Stages: 21, 22, 23

Assay Type	Results
RNA in situ	124
RT-PCR	2

cDNA source data(163)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Aprt

Sequences

Length	Strain/Species
genomic	11821	NCBI Gene Model | MGI Sequence Detail	2271	C57BL/6J
transcript	NM_009698	RefSeq | MGI Sequence Detail	866	C57BL/6
polypeptide	P08030	UniProt | EBI | MGI Sequence Detail	180	Not Applicable

All sequences(33) RefSeq(2) UniProt(4)

Polymorphisms

All PCR and RFLP(8) : PCR(1) RFLP(7) SNPs(41 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005764	Adenine phosphoribosyl transferase
InterPro	IPR000836	Phosphoribosyltransferase domain
Protein Ontology	PR:000004175	adenine phosphoribosyltransferase

Graphical View of Protein Domain Structure

References

(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: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(103)

Other accession IDs

MGD-MRK-1380, MGI:2142869