Aprt adenine phosphoribosyl transferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aprtprovided by MGI
Official Full Name: adenine phosphoribosyl transferaseprovided by MGI
Primary source: MGI:MGI:88061
See related: Ensembl:ENSMUSG00000006589 AllianceGenome:MGI:88061
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables adenine binding activity and adenine phosphoribosyltransferase activity. Involved in AMP salvage; GMP salvage; and IMP salvage. Acts upstream of or within adenine metabolic process; grooming behavior; and purine ribonucleoside salvage. Located in cytosol. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and sensory organ. Used to study adenine phosphoribosyltransferase deficiency. Human ortholog(s) of this gene implicated in adenine phosphoribosyltransferase deficiency. Orthologous to human APRT (adenine phosphoribosyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in duodenum adult (RPKM 258.1), placenta adult (RPKM 212.8) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 71.91 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (123301376..123303646, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (122574637..122576907, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Modulation of adenine phosphoribosyltransferase-mediated salvage pathway to accelerate diabetic wound healing.
Title: Modulation of adenine phosphoribosyltransferase-mediated salvage pathway to accelerate diabetic wound healing.
LOH on nonselected chromosomes was infrequent in Aprt mutants exhibiting intragenic events or mitotic recombination for chromosome 8
Title: Marked aneuploidy and loss of multiple chromosomes are common in autosomal mutants isolated from normal mouse kidney epithelium.
Data shsow that despite continuous selection for expression of the reactivated Aprt alleles, exceptionally high spontaneous re-silencing frequencies were observed.
Title: Aberrantly silenced promoters retain a persistent memory of the silenced state after long-term reactivation.
silencing of mouse Aprt is a gradual process in the differentiated cells
Title: Silencing of mouse Aprt is a gradual process in differentiated cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aprt (e-PCR), detects polymorphism
- UniSTS:141115

Aprt (e-PCR), detects polymorphism
- UniSTS:141116

C85684 (e-PCR)
- UniSTS:165604

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables AMP binding	ISO Inferred from Sequence Orthology more info
enables adenine binding	IBA Inferred from Biological aspect of Ancestor more info
enables adenine binding	IDA Inferred from Direct Assay more info	PubMed
enables adenine phosphoribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenine phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenine phosphoribosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables adenine phosphoribosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables adenine phosphoribosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in AMP salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in AMP salvage	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within AMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in AMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in IMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adenine metabolic process	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within adenine metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within adenine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenine salvage	IBA Inferred from Biological aspect of Ancestor more info
NOT acts_upstream_of_or_within grooming behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within grooming behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lactation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within purine ribonucleoside salvage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within purine ribonucleoside salvage	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: adenine phosphoribosyltransferase

NP_033828.2

EC 2.4.2.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.