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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, DKFZp686D13177, MGC125856, MGC125857, MGC129961
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_001138089.2
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)LOC100857155XP_003641980.1
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
GeneCards APRT
PDB 1ZN9, 1ZN8, 1ZN7, 1ORE, 1OPU
UniProt P07741
MIM 102600
Ensembl ENSG00000198931
HGNC 626
HPRD 00029

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

General protein information

Preferred Names
adenine phosphoribosyltransferase
Names
adenine phosphoribosyltransferase
AMP diphosphorylase
AMP pyrophosphorylase
transphosphoribosidase
NP_000476.1
NP_001025189.1

Interactant



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