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Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3 5
  • EC 4 61
  • Transphosphoribosidase 3
  • AMP Pyrophosphorylase 3
  • AMP Diphosphorylase 3
  • APRTD 3
  • AMP 3

External Ids for APRT Gene

Previous GeneCards Identifiers for APRT Gene

  • GC16P080443
  • GC16P090104
  • GC16M088572
  • GC16M088620
  • GC16M087403
  • GC16M088875
  • GC16M074573

Summaries for APRT Gene

Entrez Gene Summary for APRT Gene

  • 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]

GeneCards Summary for APRT Gene

APRT (Adenine Phosphoribosyltransferase) is a Protein Coding gene. Diseases associated with APRT include Adenine Phosphoribosyltransferase Deficiency and Lesch-Nyhan Syndrome. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include transferase activity and adenine binding.

UniProtKB/Swiss-Prot for APRT Gene

  • Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Gene Wiki entry for APRT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APRT Gene

Genomics for APRT Gene

Regulatory Elements for APRT Gene

Enhancers for APRT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F088853 0.3 FANTOM5 12.3 -41.5 -41499 0.4 ZKSCAN8 SPI1 APRT CDT1 RNF166 CBFA2T3 SNAI3 TRAPPC2L PIR42461
GH16F088809 0.6 ENCODE 11.7 +0.7 667 4.4 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNORD68 GALNS LOC101927863 RPL13 ENSG00000260121 ENSG00000259877 ZNF778 CTU2 APRT SPG7
GH16F088967 1.1 FANTOM5 ENCODE 11.2 -161.5 -161545 12.4 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YBX1 ZNF766 ZNF143 LOC100289580 PABPN1L LOC100129697 LOC339059 SNORD68 APRT RPL13 ZNF778 LOC101927863 ENSG00000268218
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around APRT on UCSC Golden Path with GeneCards custom track

Promoters for APRT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000666204 -56 2001 HDGF ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for APRT Gene

88,809,339 bp from pter
88,811,944 bp from pter
2,606 bases
Minus strand

Genomic View for APRT Gene

Genes around APRT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APRT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APRT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APRT Gene

Proteins for APRT Gene

  • Protein details for APRT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Adenine phosphoribosyltransferase
    Protein Accession:
    Secondary Accessions:
    • G5E9J2
    • Q3KP55
    • Q68DF9

    Protein attributes for APRT Gene

    180 amino acids
    Molecular mass:
    19608 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for APRT Gene

    Alternative splice isoforms for APRT Gene


neXtProt entry for APRT Gene

Selected DME Specific Peptides for APRT Gene

Post-translational modifications for APRT Gene

  • Ubiquitination at Lys 34 and Lys 167
  • Modification sites at PhosphoSitePlus

Domains & Families for APRT Gene

Suggested Antigen Peptide Sequences for APRT Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
genes like me logo Genes that share domains with APRT: view

No data available for Gene Families for APRT Gene

Function for APRT Gene

Molecular function for APRT Gene

GENATLAS Biochemistry:
adenine phosphoribosyltransferase,purine salvage pathway
UniProtKB/Swiss-Prot CatalyticActivity:
AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

Enzyme Numbers (IUBMB) for APRT Gene

Gene Ontology (GO) - Molecular Function for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002055 adenine binding IEA --
GO:0003999 adenine phosphoribosyltransferase activity IEA,TAS --
GO:0016208 AMP binding IDA 15196008
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with APRT: view
genes like me logo Genes that share phenotypes with APRT: view

Human Phenotype Ontology for APRT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APRT Gene

MGI Knock Outs for APRT:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for APRT Gene

Localization for APRT Gene

Subcellular locations from UniProtKB/Swiss-Prot for APRT Gene


Subcellular locations from

Jensen Localization Image for APRT Gene COMPARTMENTS Subcellular localization image for APRT gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,TAS 16130169
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with APRT: view

Pathways & Interactions for APRT Gene

genes like me logo Genes that share pathways with APRT: view

Pathways by source for APRT Gene

2 KEGG pathways for APRT Gene
1 GeneGo (Thomson Reuters) pathway for APRT Gene

UniProtKB/Swiss-Prot P07741-APT_HUMAN

  • Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.

Gene Ontology (GO) - Biological Process for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006168 adenine salvage IEA --
GO:0007595 lactation IEA --
GO:0007625 grooming behavior IEA --
GO:0009116 nucleoside metabolic process IEA --
genes like me logo Genes that share ontologies with APRT: view

No data available for SIGNOR curated interactions for APRT Gene

Drugs & Compounds for APRT Gene

(24) Drugs for APRT Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Propranolol Approved, Investigational Pharma Antagonist Beta blocker 216
Guanine Experimental Pharma 0

(26) Additional Compounds for APRT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 4-Amino-5-Imidazolecarboxamide
  • 4-Aminoimidazole-5-carboxamide
  • 4-Carbamoyl-5-aminoimidazole
  • 4-Carboxamido-5-aminoimidazole
  • 5-Amino-1H-Imidazole-4-carboxamide
Phosphoribosyl pyrophosphate
  • 5-Phospho-a-D-ribose-1-diphosphate
  • 5-Phospho-a-D-ribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phospho-alpha-D-ribose-1-diphosphate
  • 5-Phospho-alpha-D-ribosyl pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
genes like me logo Genes that share compounds with APRT: view

Transcripts for APRT Gene

Unigene Clusters for APRT Gene

Adenine phosphoribosyltransferase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APRT Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: - - - -
SP6: - - -
SP7: - - - -
SP9: -

Relevant External Links for APRT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for APRT Gene

mRNA expression in normal human tissues for APRT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for APRT Gene

This gene is overexpressed in Tlymphocyte (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APRT Gene

Protein tissue co-expression partners for APRT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APRT Gene:


SOURCE GeneReport for Unigene cluster for APRT Gene:

genes like me logo Genes that share expression patterns with APRT: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for APRT Gene

Orthologs for APRT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for APRT Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia APRT 34 35
  • 99.44 (n)
(Canis familiaris)
Mammalia APRT 34 35
  • 85.19 (n)
(Bos Taurus)
Mammalia APRT 34 35
  • 85 (n)
(Rattus norvegicus)
Mammalia Aprt 34
  • 84.07 (n)
(Mus musculus)
Mammalia Aprt 34 16 35
  • 82.22 (n)
(Monodelphis domestica)
Mammalia APRT 35
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia APRT 35
  • 60 (a)
(Gallus gallus)
Aves APRT 34 35
  • 68.34 (n)
(Anolis carolinensis)
Reptilia APRT 35
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aprt 34
  • 60.34 (n)
Str.9492 34
(Danio rerio)
Actinopterygii aprt 34 35
  • 57.25 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7615 34
fruit fly
(Drosophila melanogaster)
Insecta Aprt 36 34 35
  • 53.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005723 34
  • 51.52 (n)
(Caenorhabditis elegans)
Secernentea T19B4.3 36 34 35
  • 50.49 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER325W 34
  • 53.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01309g 34
  • 52.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APT1 34 35
  • 50.19 (n)
APT2 35
  • 40 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons APT1 34
  • 50.67 (n)
(Oryza sativa)
Liliopsida Os12g0589100 34
  • 52.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02090 34
  • 56.09 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apt1 34
  • 45.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
Species where no ortholog for APRT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APRT Gene

Gene Tree for APRT (if available)
Gene Tree for APRT (if available)

Paralogs for APRT Gene

No data available for Paralogs for APRT Gene

Variants for APRT Gene

Sequence variations from dbSNP and Humsavar for APRT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs104894506 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723], Pathogenic 88,810,550(-) CCTAG(A/T)CTCCC reference, missense
rs104894508 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723], Pathogenic 88,810,141(-) TGAGC(C/T)GGAGA reference, missense
rs200392753 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,494(+) GAGCA(C/T)GCAGC reference, missense
rs281860266 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723], Pathogenic 88,809,793(-) CTGAG(G/T)TCCTG intron-variant, reference, missense
rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723], Pathogenic 88,809,834(-) AACCA(C/T)GAACG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for APRT Gene

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

Variation tolerance for APRT Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APRT Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APRT Gene

Disorders for APRT Gene

MalaCards: The human disease database

(16) MalaCards diseases for APRT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adenine phosphoribosyltransferase deficiency
  • 2,8-dihydroxyadenine urolithiasis
lesch-nyhan syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
  • aprt deficiency
  • calculus of ureter
xanthinuria, type i
  • xanthinuria, type ii
- elite association - COSMIC cancer census association via MalaCards
Search APRT in MalaCards View complete list of genes associated with diseases


  • Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269 PubMed:11243733, ECO:0000269 PubMed:1353080, ECO:0000269 PubMed:15571218, ECO:0000269 PubMed:1746557, ECO:0000269 PubMed:21635362, ECO:0000269 PubMed:3343350, ECO:0000269 PubMed:3680503, ECO:0000269 PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for APRT Gene

uro-lithiasis,2.5 dihydroxyadenine

Relevant External Links for APRT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with APRT: view

Publications for APRT Gene

  1. Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. (PMID: 15571218) Taniguchi A. … Kamatani N. (Nucleosides Nucleotides Nucleic Acids 2004) 3 4 22 64
  2. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PMID: 15196008) Silva M. … Thiemann O.H. (Biochemistry 2004) 3 4 22 64
  3. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. (PMID: 11243733) Deng L. … Sahota A. (Mol. Genet. Metab. 2001) 3 4 22 64
  4. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (PMID: 1353080) Kamatani N. … Kashiwazaki S. (J. Clin. Invest. 1992) 3 4 22 64
  5. Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. (PMID: 1746557) Chen J. … Tischfield J.A. (Am. J. Hum. Genet. 1991) 3 4 22 64

Products for APRT Gene

Sources for APRT Gene

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