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 path... See more...

Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3 4 5
  • EC 2.4.2.7 4 50
  • Transphosphoribosidase 3
  • AMP Pyrophosphorylase 3
  • AMP Diphosphorylase 3
  • APRTD 3
  • APRT 5
  • 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 nucleotides de novo biosynthesis and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and adenine binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APRT Gene

Genomics for APRT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APRT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APRT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APRT

Top Transcription factor binding sites by QIAGEN in the APRT gene promoter:
  • AP-1
  • CREB
  • p300

Genomic Locations for APRT Gene

Latest Assembly
chr16:88,809,339-88,811,937
(GRCh38/hg38)
Size:
2,599 bases
Orientation:
Minus strand

Previous Assembly
chr16:88,875,747-88,878,336
(GRCh37/hg19 by Entrez Gene)
Size:
2,590 bases
Orientation:
Minus strand

chr16:88,875,747-88,878,352
(GRCh37/hg19 by Ensembl)
Size:
2,606 bases
Orientation:
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:
    P07741-APT_HUMAN
    Recommended name:
    Adenine phosphoribosyltransferase
    Protein Accession:
    P07741
    Secondary Accessions:
    • G5E9J2
    • Q3KP55
    • Q68DF9

    Protein attributes for APRT Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for APRT Gene

Selected DME Specific Peptides for APRT Gene

P07741:
  • ECVSLVELTSLKGRE
  • GKLPGPT
  • SRGFLFGP
  • DDLLATGG
  • LKGREKL
  • SYSLEYG
  • LEYGKAELEIQKDALEPGQ

Post-translational modifications for APRT Gene

  • Ubiquitination at Lys34 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

Protein Domains for APRT Gene

InterPro:
Blocks:
  • Purine/pyrimidine phosphoribosyl transferase

Suggested Antigen Peptide Sequences for APRT Gene

GenScript: Design optimal peptide antigens:
  • Adenine phosphoribosyltransferase (APT_HUMAN)
  • Adenine phosphoribosyltransferase (Q12898_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07741

UniProtKB/Swiss-Prot:

APT_HUMAN :
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.
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

UniProtKB/Swiss-Prot Function:
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine; Xref=Rhea:RHEA:16609, ChEBI:CHEBI:16708, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:456215; EC=2.4.2.7;.
GENATLAS Biochemistry:
adenine phosphoribosyltransferase,purine salvage pathway

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 IBA 21873635
GO:0003999 adenine phosphoribosyltransferase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0016208 AMP binding IBA,IDA 15196008
GO:0016740 transferase activity 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APRT

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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
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 IBA,TAS 16130169
GO:0005829 cytosol IDA,TAS --
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
  • ATP/ITP metabolism

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,IBA 21873635
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

(23) 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 Target 1606
5-O-phosphono-alpha-D-ribofuranosyl diphosphate Approved, Experimental, Investigational Pharma Target 0
Propranolol Approved, Investigational Pharma Beta blocker 314

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-carbamoylimidazole
  • 4-Amino-5-imidazolecarboxamide
  • 5(4)-Amino-4(5)-imidazolecarboxamide
  • 5-Amino-4-imidazolecarboxyamide
  • 4-Aminoimidazole-5-carboxamide
360-97-4
Phosphoribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • alpha-Phosphoribosylpyrophosphoric acid
7540-64-9
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with APRT: view

Transcripts for APRT Gene

mRNA/cDNA for APRT Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APRT

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: - - - -
SP8:
SP9: -

Relevant External Links for APRT Gene

GeneLoc Exon Structure for
APRT

Expression for APRT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for APRT Gene



Protein tissue co-expression partners for APRT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APRT

SOURCE GeneReport for Unigene cluster for APRT Gene:

Hs.28914

Evidence on tissue expression from TISSUES for APRT Gene

  • Liver(4.5)
  • Blood(4.5)
  • Skin(3.3)
  • Nervous system(2.7)
  • Kidney(2.6)
  • Muscle(2.6)
  • Stomach(2.5)
  • Intestine(2.5)
  • Heart(2.4)
  • Bone marrow(2.3)
  • Spleen(2.3)
  • Lung(2.1)

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

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia APRT 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APRT 29 30
  • 85.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APRT 29 30
  • 85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aprt 29
  • 84.07 (n)
Mouse
(Mus musculus)
Mammalia Aprt 29 16 30
  • 82.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia APRT 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APRT 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APRT 29 30
  • 68.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APRT 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aprt 29
  • 60.34 (n)
Str.9492 29
Zebrafish
(Danio rerio)
Actinopterygii aprt 29 30
  • 57.25 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7615 29
Fruit Fly
(Drosophila melanogaster)
Insecta Aprt 29 30 31
  • 53.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005723 29
  • 51.52 (n)
Worm
(Caenorhabditis elegans)
Secernentea T19B4.3 29 30 31
  • 50.49 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER325W 29
  • 53.33 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01309g 29
  • 52.03 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APT1 29 30
  • 50.19 (n)
OneToMany
APT2 30
  • 40 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons APT1 29
  • 50.67 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0589100 29
  • 52.19 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02090 29
  • 56.09 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apt1 29
  • 45.71 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 42 (a)
OneToOne
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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for APRT (if available)
TreeFam:
Gene Tree for APRT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APRT: view image
Alliance of Genome Resources:
Additional Orthologs for APRT

Paralogs for APRT Gene

No data available for Paralogs for APRT Gene

Variants for APRT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APRT Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1026249 Uncertain Significance: not provided 88,810,103(-) C/G
NM_000485.3(APRT):c.367G>C (p.Val123Leu)
MISSENSE
1031589 Pathogenic: Adenine phosphoribosyltransferase deficiency 88,810,068(-) ACCACCAGTGG/A
NM_000485.3(APRT):c.392_400+1del
SPLICE_DONOR
851226 Uncertain Significance: not provided 88,809,759(-) G/A
NM_000485.3(APRT):c.482C>T (p.Ser161Leu)
MISSENSE_VARIANT,INTRON
884719 Uncertain Significance: Adenine phosphoribosyltransferase deficiency 88,809,830(-) G/A
NM_000485.3(APRT):c.411C>T (p.Asn137=)
SYNONYMOUS_VARIANT,INTRON
884720 Uncertain Significance: Adenine phosphoribosyltransferase deficiency 88,809,855(-) G/A
NM_000485.3(APRT):c.401-15C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for APRT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
APRT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APRT
Leiden Open Variation Database (LOVD)
APRT

SNP Genotyping and Copy Number Assays for research

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

Disorders for APRT Gene

MalaCards: The human disease database

(24) MalaCards diseases for APRT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search APRT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APT_HUMAN
  • 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 variants 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. 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
  2. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (PMID: 15196008) Silva M … Thiemann OH (Biochemistry 2004) 3 4 22
  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
  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
  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

Products for APRT Gene

Sources for APRT Gene