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Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3 5
  • EC 4 56
  • 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 Innate Immune System and Metabolism. Gene Ontology (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

Additional gene information for APRT Gene

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

Genomics for APRT Gene

GeneHancer (GH) Regulatory Elements for APRT Gene

Promoters and enhancers for APRT Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I088809 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.8 +0.7 667 4.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 APRT ENSG00000259877 SNORD68 GALNS ANKRD11 LOC101927863 RPL13 ENSG00000260121 ZC3H18 ACSF3
GH16I088779 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.1 +29.2 29187 6.7 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 PIEZO1 APRT ANKRD11 SNORD68 CDT1 TRAPPC2L GALNS ENSG00000259877 RPL13 CTU2
GH16I088854 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 12.3 -44.5 -44469 4.2 CLOCK MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 FOS GALNS TRAPPC2L APRT CDT1 CYBA RNF166 ZC3H18 SNAI3 CBFA2T3
GH16I089503 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -695.0 -695039 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SPG7 LOC101927863 AFG3L1P MC1R RPL13 ENSG00000268218 ANKRD11 ZC3H18 TCF25 ACSF3
GH16I089558 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10 -750.7 -750682 7.9 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC RPL13 SNORD68 GC16P089560 PIR32702 GC16P089561 AFG3L1P ANKRD11 TCF25 ENSG00000268218 ENSG00000259877
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APRT on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for APRT Gene

Genomic Locations for APRT Gene
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 posLast=3434 and Lys167
  • Modification sites at PhosphoSitePlus

Domains & Families for APRT Gene

Gene Families for APRT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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 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

CRISPR Products

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APRT gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol TAS,IDA --
GO:0034774 secretory granule lumen TAS --
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, Investigational Nutra Enzyme, substrate 0
Citric Acid Approved, Vet_approved Nutra Agonist, Activator, Target 1243
Alpha-Phosphoribosylpyrophosphoric Acid Approved, Experimental, Investigational Pharma Target 0
Phosphoric acid Approved 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


Evidence on tissue expression from TISSUES for APRT Gene

  • Blood(4.5)
  • Liver(4.4)
  • Skin(2.9)
  • Kidney(2.4)
  • Nervous system(2.4)
  • Heart(2.1)
  • Stomach(2.1)
  • Lung(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APRT Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • urinary
  • kidney
  • ureter
  • urinary bladder
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with APRT: view

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 33 34
  • 99.44 (n)
(Canis familiaris)
Mammalia APRT 33 34
  • 85.19 (n)
(Bos Taurus)
Mammalia APRT 33 34
  • 85 (n)
(Rattus norvegicus)
Mammalia Aprt 33
  • 84.07 (n)
(Mus musculus)
Mammalia Aprt 33 16 34
  • 82.22 (n)
(Monodelphis domestica)
Mammalia APRT 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia APRT 34
  • 60 (a)
(Gallus gallus)
Aves APRT 33 34
  • 68.34 (n)
(Anolis carolinensis)
Reptilia APRT 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aprt 33
  • 60.34 (n)
Str.9492 33
(Danio rerio)
Actinopterygii aprt 33 34
  • 57.25 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7615 33
fruit fly
(Drosophila melanogaster)
Insecta Aprt 35 33 34
  • 53.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005723 33
  • 51.52 (n)
(Caenorhabditis elegans)
Secernentea T19B4.3 35 33 34
  • 50.49 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER325W 33
  • 53.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01309g 33
  • 52.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APT1 33 34
  • 50.19 (n)
APT2 34
  • 40 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons APT1 33
  • 50.67 (n)
(Oryza sativa)
Liliopsida Os12g0589100 33
  • 52.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02090 33
  • 56.09 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apt1 33
  • 45.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs104894506 pathogenic, Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,550(-) T/A coding_sequence_variant, missense_variant
rs104894507 pathogenic, Adenine phosphoribosyltransferase deficiency 88,810,450(-) C/T coding_sequence_variant, stop_gained
rs104894508 pathogenic, Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] 88,810,141(-) A/G coding_sequence_variant, missense_variant
rs1135364 benign, Morquio syndrome, Adenine phosphoribosyltransferase deficiency 88,813,828(-) T/C upstream_transcript_variant
rs1135366 benign, Morquio syndrome, Adenine phosphoribosyltransferase deficiency 88,813,787(-) T/C upstream_transcript_variant

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)

Additional Variant Information for APRT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for APRT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
adenine phosphoribosyltransferase deficiency
  • aprtd
lesch-nyhan syndrome
  • lns
  • adenine phosphoribosyltransferase deficiency
  • articular gout
kelley-seegmiller syndrome
  • gout, hprt-related
- 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

Additional Disease Information for APRT

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 OH (Biochemistry 2004) 3 4 22 58
  2. 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 58
  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 (Molecular genetics and metabolism 2001) 3 4 22 58
  4. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. (PMID: 1353080) Kamatani N … Kashiwazaki S (The Journal of clinical investigation 1992) 3 4 22 58
  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 JA (American journal of human genetics 1991) 3 4 22 58

Products for APRT Gene

Sources for APRT Gene

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