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Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3 5
  • EC 4 63
  • 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 Dihydroxyadeninuria. Among its related pathways are Purine metabolism and Metabolism. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around APRT on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the APRT gene promoter:

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

Proteomics data for APRT Gene at MOPED

Selected DME Specific Peptides for APRT Gene

Post-translational modifications for APRT Gene

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

Antibody Products

Domains & Families for APRT Gene

Protein Domains 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

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

No data available for Gene Ontology (GO) - Molecular Function , 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: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:0006144 purine nucleobase metabolic process TAS --
GO:0006168 adenine salvage IEA --
GO:0032869 cellular response to insulin stimulus IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0046083 adenine 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
Propranolol Approved, Investigational Pharma Antagonist 207
Phosphoribosyl pyrophosphate Experimental Pharma Target 0
Guanine Experimental Pharma 0

(25) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
genes like me logo Genes that share compounds with APRT: view

Transcripts for APRT Gene

Unigene Clusters for APRT Gene

Adenine phosphoribosyltransferase:
Representative Sequences:

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, MOPED, and MaxQB for APRT Gene

SOURCE GeneReport for Unigene cluster for APRT Gene Hs.28914

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

Protein tissue co-expression partners for APRT Gene

- Elite partner

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
(Bos Taurus)
Mammalia APRT 35
  • 85 (n)
  • 86.67 (a)
  • 87 (a)
(Canis familiaris)
Mammalia APRT 35
  • 85.19 (n)
  • 85.56 (a)
  • 86 (a)
(Mus musculus)
Mammalia Aprt 35
  • 82.22 (n)
  • 82.78 (a)
Aprt 16
Aprt 36
  • 83 (a)
(Pan troglodytes)
Mammalia APRT 35
  • 99.44 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Aprt 35
  • 84.07 (n)
  • 86.67 (a)
(Monodelphis domestica)
Mammalia APRT 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia APRT 36
  • 60 (a)
(Gallus gallus)
Aves APRT 35
  • 68.34 (n)
  • 68.72 (a)
  • 55 (a)
(Anolis carolinensis)
Reptilia APRT 36
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aprt 35
  • 60.34 (n)
  • 63.69 (a)
Str.9492 35
(Danio rerio)
Actinopterygii aprt 35
  • 57.25 (n)
  • 56.5 (a)
aprt 36
  • 55 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7615 35
fruit fly
(Drosophila melanogaster)
Insecta Aprt 37
  • 49 (a)
Aprt 35
  • 53.03 (n)
  • 46.59 (a)
Aprt 36
  • 45 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005723 35
  • 51.52 (n)
  • 40.91 (a)
(Caenorhabditis elegans)
Secernentea T19B4.3 37
  • 45 (a)
T19B4.3 35
  • 50.49 (n)
  • 46.2 (a)
T19B4.3 36
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER325W 35
  • 53.33 (n)
  • 47.88 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01309g 35
  • 52.03 (n)
  • 45.12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APT1 35
  • 50.19 (n)
  • 46.55 (a)
APT1 36
  • 43 (a)
APT2 36
  • 40 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons APT1 35
  • 50.67 (n)
  • 42.2 (a)
(Oryza sativa)
Liliopsida Os12g0589100 35
  • 52.19 (n)
  • 45.71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02090 35
  • 56.09 (n)
  • 46.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apt1 35
  • 45.71 (n)
  • 44.57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for APRT:
  • 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
VAR_006747 Adenine phosphoribosyltransferase deficiency (APRTD)
VAR_006748 Adenine phosphoribosyltransferase deficiency (APRTD)
rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) 88,809,834(-) AACCA(C/T)GAACG intron-variant, reference, missense
rs8191494 - 88,810,108(-) AGGAC(A/G)GAGGG reference, missense
VAR_022608 Adenine phosphoribosyltransferase deficiency (APRTD)

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

Variant ID Type Subtype PubMed ID
nsv907226 CNV Loss 21882294
nsv907268 CNV Loss 21882294
dgv2978n71 CNV Loss 21882294
dgv2979n71 CNV Loss 21882294
nsv907278 CNV Loss 21882294
nsv907296 CNV Loss 21882294
nsv907307 CNV Gain 21882294
nsv907313 CNV Loss 21882294
dgv2988n71 CNV Loss 21882294
dgv2989n71 CNV Gain 21882294
nsv907320 CNV Loss 21882294
dgv2990n71 CNV Loss 21882294
dgv37n68 CNV Loss 17160897
nsv907322 CNV Loss 21882294
dgv2991n71 CNV Loss 21882294
dgv2992n71 CNV Loss 21882294
dgv2993n71 CNV Loss 21882294
nsv907336 CNV Loss 21882294
dgv2994n71 CNV Loss 21882294
nsv457617 CNV Gain 19166990
dgv2995n71 CNV Loss 21882294
dgv2996n71 CNV Loss 21882294
nsv471115 CNV Loss 18288195
nsv528898 CNV Loss 19592680
nsv471117 CNV Gain 18288195
nsv819907 CNV Gain 19587683
nsv521217 CNV Loss 19592680

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)

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
  • adenine phosphoribosyltransferase deficiency
lesch-nyhan syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
  • calculus of ureter
  • articular gout
- 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. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PMID: 15196008) Silva M. … Thiemann O.H. (Biochemistry 2004) 3 4 23 67
  2. Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure. (PMID: 17126311) Di Pietro V. … Tavazzi B. (Clin. Biochem. 2007) 3 23 25
  3. Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism. (PMID: 18399692) Silva C.H. … Thiemann O.H. (J. Biomol. Struct. Dyn. 2008) 3 23
  4. Configuration of a scintillation proximity assay for the activity assessment of recombinant human adenine phosphoribosyltransferase. (PMID: 17199504) Barrett C. … Bembenek M.E. (Assay Drug Dev Technol 2006) 23 25
  5. 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 23

Products for APRT Gene

Sources for APRT Gene