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Aliases for APRT Gene

Aliases for APRT Gene

  • Adenine Phosphoribosyltransferase 2 3
  • EC 2.4.2.7 4 64
  • APRTD 3 6
  • Transphosphoribosidase 3
  • AMP Pyrophosphorylase 3
  • AMP Diphosphorylase 3
  • AMP 3

External Ids for APRT Gene

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 dihydroxyadeninuria and adenine phosphoribosyltransferase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include AMP binding and adenine phosphoribosyltransferase activity.

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

Genomic Location for APRT Gene

Start:
88,809,339 bp from pter
End:
88,811,944 bp from pter
Size:
2,606 bases
Orientation:
Minus strand

Genomic View for APRT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APRT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APRT Gene

Regulatory Elements for APRT Gene

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

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

Proteomics data for APRT Gene at MOPED

Selected DME Specific Peptides for APRT Gene

Post-translational modifications for APRT Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys34 and Lys167

Other Protein References for APRT Gene

Domains for APRT Gene

Protein Domains for APRT Gene

UniProtKB/Swiss-Prot:

APT_HUMAN
Family:
  • Belongs to the purine/pyrimidine phosphoribosyltransferase family.:
    • P07741
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 TAS --
GO:0016208 AMP binding IDA 15196008
GO:0016740 transferase activity --
genes like me logo Genes that share ontologies with APRT: view
genes like me logo Genes that share phenotypes with APRT: view

Animal Models for APRT Gene

MGI Knock Outs for APRT:

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

Localization for APRT Gene

Subcellular locations from UniProtKB/Swiss-Prot for APRT Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APRT Gene COMPARTMENTS Subcellular localization image for APRT gene
Compartment Confidence
cytosol 4
nucleus 4
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for APRT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with APRT: view

Pathways for APRT Gene

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

Pathways by source for APRT Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for APRT Gene
2 BioSystems pathways for APRT Gene
2 KEGG pathways 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:0006166 purine ribonucleoside salvage --
GO:0006168 adenine salvage IEA --
GO:0007595 lactation IEA --
GO:0007625 grooming behavior IEA --
genes like me logo Genes that share ontologies with APRT: view

Compounds for APRT Gene

(10) HMDB Compounds for APRT Gene

Compound Synonyms Cas Number PubMed IDs
5-Aminoimidazole-4-carboxamide
  • 4-Amino-5-Imidazolecarboxamide
360-97-4
Adenine
  • 1,6-Dihydro-6-iminopurine
73-24-5
Adenosine monophosphate
  • 5'-AMP
61-19-8
AICAR
  • 5'-P-ribosyl-5-amino-4-imidazole carboxamide
3031-94-5
Guanine
  • GUN
73-40-5

(5) Drugbank Compounds for APRT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
9-Deazaadenine
target
Adenine
  • 1H-Purin-6-amine
73-24-5 target
Adenosine monophosphate
  • 5'-Adenosine monophosphate
61-19-8 enzyme substrate
Alpha-Phosphoribosylpyrophosphoric Acid
13270-65-0 target
Citric Acid
77-92-9 target

(38) Novoseek inferred chemical compound relationships for APRT Gene

Compound -log(P) Hits PubMed IDs
2,8-dihydroxyadenine 98.4 65
adenine 94.3 173
8-azaadenine 89.1 2
purine 80.5 20
2,6-diaminopurine 80.2 2
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: - - - -
SP8:
SP9: -

Relevant External Links for APRT Gene

GeneLoc Exon Structure for
APRT
ECgene alternative splicing isoforms for
APRT

Expression for APRT Gene

mRNA expression in normal human tissues for APRT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with APRT: view

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 36
  • 99.44 (n)
  • 100 (a)
APRT 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APRT 36
  • 85 (n)
  • 86.67 (a)
APRT 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APRT 36
  • 85.19 (n)
  • 85.56 (a)
APRT 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aprt 36
  • 82.22 (n)
  • 82.78 (a)
Aprt 16
Aprt 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APRT 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APRT 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aprt 36
  • 84.07 (n)
  • 86.67 (a)
chicken
(Gallus gallus)
Aves APRT 36
  • 68.34 (n)
  • 68.72 (a)
APRT 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APRT 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aprt 36
  • 60.34 (n)
  • 63.69 (a)
Str.9492 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7615 36
zebrafish
(Danio rerio)
Actinopterygii aprt 36
  • 57.25 (n)
  • 56.5 (a)
aprt 37
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005723 36
  • 51.52 (n)
  • 40.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aprt 36
  • 53.03 (n)
  • 46.59 (a)
Aprt 37
  • 45 (a)
OneToOne
Aprt 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea T19B4.3 36
  • 50.49 (n)
  • 46.2 (a)
T19B4.3 37
  • 43 (a)
OneToOne
T19B4.3 38
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER325W 36
  • 53.33 (n)
  • 47.88 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes APT1 36
  • 50.19 (n)
  • 46.55 (a)
APT1 37
  • 43 (a)
OneToMany
APT2 37
  • 40 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01309g 36
  • 52.03 (n)
  • 45.12 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons APT1 36
  • 50.67 (n)
  • 42.2 (a)
rice
(Oryza sativa)
Liliopsida Os12g0589100 36
  • 52.19 (n)
  • 45.71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02090 36
  • 56.09 (n)
  • 46.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes apt1 36
  • 45.71 (n)
  • 44.57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToOne
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

ENSEMBL:
Gene Tree for APRT (if available)
TreeFam:
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 MAF
rs535070 -- 88,812,323(+) TGGAG(A/G)AGGGC upstream-variant-2KB
rs537641 -- 88,812,544(+) CCCTT(C/T)TGTCC upstream-variant-2KB
rs541276 -- 88,812,948(+) tctcg(A/T)tctcc upstream-variant-2KB
rs564235 -- 88,813,154(+) CTGGG(G/T)CCCCG upstream-variant-2KB
rs1799829 -- 88,812,533(-) CTTCT(G/T)CCCTC upstream-variant-2KB

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

Relevant External Links for APRT Gene

HapMap Linkage Disequilibrium report
APRT
Human Gene Mutation Database (HGMD)
APRT

Disorders for APRT Gene

(1) OMIM Diseases for APRT Gene (102600)

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 mutations affecting the gene represented in this entry.

(34) Novoseek inferred disease relationships for APRT Gene

Disease -log(P) Hits PubMed IDs
urolithiasis 82.6 27
lesch-nyhan syndrome 76.6 5
purine metabolism disorder 76.2 1
xanthinuria 72.6 2
hprt deficiency, partial 69.2 1

Genatlas disease for APRT Gene

uro-lithiasis,2.5 dihydroxyadenine
genes like me logo Genes that share disorders with APRT: view

Publications for APRT Gene

  1. 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 23
  2. 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 23
  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 23
  4. 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
  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 4 23

Products for APRT Gene

Sources for APRT Gene

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