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Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
APRT (Adenine Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with APRT include Adenine Phosphoribosyltransferase Deficiency and Urolithiasis. Among its related pathways are Metabolism of nucleotides and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and adenine binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002055 | adenine binding | IBA | 21873635 |
GO:0003999 | adenine phosphoribosyltransferase activity | TAS,IBA | 21873635 |
GO:0016208 | AMP binding | IBA,IDA | 15196008 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA,TAS | 16130169 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0034774 | secretory granule lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides |
.01
|
|
2 | Innate Immune System |
.61
|
|
3 | Metabolism |
.40
|
|
4 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
|
5 | purine nucleotides de novo biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006166 | purine ribonucleoside salvage | IEA | -- |
GO:0006168 | adenine salvage | IEA,IBA | 21873635 |
GO:0007595 | lactation | IEA | -- |
GO:0007625 | grooming behavior | IEA | -- |
GO:0009116 | nucleoside metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Adenine | Approved | Nutra | Target | 0 | ||
Adenosine monophosphate | Approved, Investigational | Nutra | Enzyme, substrate | 0 | ||
Citric acid | Approved, Vet_approved | Nutra | Activator, Agonist, Target | 1509 | ||
5-O-phosphono-alpha-D-ribofuranosyl diphosphate | Approved, Experimental, Investigational | Pharma | Target | 0 | ||
Phosphoric acid | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
5-Aminoimidazole-4-carboxamide |
|
360-97-4 |
|
|||
Phosphoribosyl pyrophosphate |
|
7540-64-9 |
|
|||
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APRT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APRT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APRT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aprt 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aprt 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | APRT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APRT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APRT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | APRT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aprt 30 |
|
||
Str.9492 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | aprt 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7615 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aprt 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005723 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T19B4.3 30 31 32 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER325W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B01309g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | APT1 30 31 |
|
OneToMany | |
APT2 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | APT1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0589100 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02090 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | apt1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
732386 | Likely Benign: not provided | 88,810,108(-) | T/C | MISSENSE_VARIANT | |
744458 | Likely Benign: not provided | 88,809,712(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
797738 | Likely Benign: not provided | 88,809,782(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
851226 | Uncertain Significance: not provided | 88,809,759(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
884719 | Uncertain Significance: Adenine phosphoribosyltransferase deficiency | 88,809,830(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3064n100 | CNV | gain | 25217958 |
dgv3065n100 | CNV | gain | 25217958 |
dgv37n68 | CNV | loss | 17160897 |
dgv5319n54 | CNV | loss | 21841781 |
esv3639555 | CNV | gain | 21293372 |
esv3892938 | CNV | loss | 25118596 |
nsv1061256 | CNV | gain | 25217958 |
nsv1063024 | CNV | gain | 25217958 |
nsv1063441 | CNV | loss | 25217958 |
nsv457617 | CNV | gain | 19166990 |
nsv471115 | CNV | loss | 18288195 |
nsv471117 | CNV | gain | 18288195 |
nsv482951 | CNV | loss | 15286789 |
nsv521217 | CNV | loss | 19592680 |
nsv528898 | CNV | loss | 19592680 |
nsv573674 | CNV | gain | 21841781 |
nsv573714 | CNV | gain | 21841781 |
nsv573718 | CNV | loss | 21841781 |
nsv819907 | CNV | gain | 19587683 |
nsv952071 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adenine phosphoribosyltransferase deficiency |
|
|
urolithiasis |
|
|
lesch-nyhan syndrome |
|
|
ureterolithiasis |
|
|
xanthinuria |
|