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APRT adenine phosphoribosyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000485 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_001030018 Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $299.00 14

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Gene Symbol APRT
Entrez Gene ID 353
Full Name adenine phosphoribosyltransferase
Synonyms AMP, APRTD
General protein information
Preferred Names
adenine phosphoribosyltransferase
Names
adenine phosphoribosyltransferase
AMP diphosphorylase
AMP pyrophosphorylase
transphosphoribosidase
NP_000476.1
NP_001025189.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q24

Summary 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].
Disorder

MIM: 102600

Urolithiasis, 2,8-dihydroxyadenine (3)

mRNA Protein Product Sequence Price Select
NM_000485, 71773149 NP_000476, 4502171 adenine phosphoribosyltransferase isoform a ORF Sequence $159.00
NM_001030018, 71773200 NP_001025189, 71773201 adenine phosphoribosyltransferase isoform b ORF Sequence $150.00
KEGG
hsa00230Purine metabolism
BIOCYC
HUMAN_P121-PWYadenine and adenosine salvage I
Reactome
REACT_1923Purine salvage
REACT_522Purine metabolism
REACT_1698Metabolism of nucleotides
REACT_111217Metabolism
Homo sapiens (human)APRTNP_000476.1
Pan troglodytes (chimpanzee)APRTXP_003952966.1
Macaca mulatta (Rhesus monkey)APRTXP_001089867.1
Canis lupus familiaris (dog)APRTXP_536752.2
Bos taurus (cattle)APRTNP_001020505.1
Mus musculus (house mouse)AprtNP_033828.2
Rattus norvegicus (Norway rat)AprtNP_001013079.1
Gallus gallus (chicken)APRTNP_001264576.1
Danio rerio (zebrafish)aprtNP_956962.1
Drosophila melanogaster (fruit fly)AprtNP_476637.1
Caenorhabditis elegansT19B4.3NP_491663.1
Arabidopsis thaliana (thale cress)APT1NP_564284.1
Xenopus (Silurana) tropicalis (western clawed frog)aprtNP_001007941.1
Process
IDNameEvidence
GO:0006144purine nucleobase metabolic processTAS
GO:0006166purine ribonucleoside salvageIEA
GO:0006168adenine salvageIEA
GO:0007595lactationIEA
GO:0007625grooming behaviorIEA
GO:0032869cellular response to insulin stimulusIEA
GO:0043101purine-containing compound salvageTAS
GO:0044209AMP salvageIEA
GO:0044281small molecule metabolic processTAS
GO:0055086nucleobase-containing small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005737cytoplasmTAS
GO:0005829cytosolTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0002055adenine bindingIEA
GO:0003999adenine phosphoribosyltransferase activityTAS
GO:0016208AMP bindingIDA
GeneCards APRT
UniProt P07741
Vega OTTHUMG00000175454
MIM 102600
Ensembl ENSG00000198931
HGNC 626
HPRD 00029

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the APRT gene?

The APRT gene provides instructions for making an enzyme called adenine phosphoribosyltransferase (APRT). This enzyme is produced in all cells and is part of the purine salvage pathway, which recycles a group of DNA building blocks (nucleotides) called purines to make other molecules. The APRT enzyme helps to recycle the purine adenine to make a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells.

Interactant

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